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Gene: Mrap MGI:1924287

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Gene Summary

Name:
melanocortin 2 receptor accessory protein
Synonyms:
1110025G12Rik,  C21ORF61

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Mrapem1(IMPC)Tcp HOM E15.5 0.00
abnormal skin morphology Mrapem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Mrapem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, complete penetrance Mrapem1(IMPC)Tcp HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

106 Images

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Eye Morphology

Images Slit Lamp

96 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Mrap mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mrap by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glucocorticoid Deficiency 2
Recurrent pneumonia, Hypoglycemia, Bilateral cryptorchidism, Recurrent hypoglycemia, Increased ci... OMIM:607398
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361

The table below shows human diseases predicted to be associated to Mrap by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... OMIM:610978
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Meconium Aspiration Syndrome
Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothorax, Maternal diabet... ORPHA:70588
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Abnormal lung mor... ORPHA:60032
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Bilateral cryptorchidism, Death in infancy, Neonatal death, Unilateral cryptorchidism OMIM:300219
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Dysphagia, Atelectasis, Pulmonary fibrosis ORPHA:254361
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, A... ORPHA:90790
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Polydipsia, Adrenal hyperplasia, Glucocortocoid-insensitive primary h... ORPHA:251274
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556037
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Adrenal hyperplasia, Decreased... ORPHA:231580
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556030
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Miscarriage ORPHA:96181
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Polydipsia, Adrenal hyperplasia ORPHA:369929
Cortisone Reductase Deficiency 2
Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio... OMIM:614662
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Pulmon... OMIM:611812
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration ORPHA:122
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascu... ORPHA:244
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Cholestasis,... OMIM:620233
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Farber Disease
Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Elevated circula... ORPHA:333
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis OMIM:244400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Death in infancy, Neonatal death, Decreased circulating c... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Death in infancy, Neonatal death, Decreased circulating c... OMIM:618839
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Atelectasis, Splenomegaly, Neonatal death, Hypoplastic nipples, Hepatomegaly... OMIM:269860
Zygomycosis
Hepatitis, Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Perit... ORPHA:73263
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Death in childhood, Microvesicular hepa... OMIM:618278
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Dysphagia, Atelectasis, Fulminant hepatitis ORPHA:319213
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating h... ORPHA:534
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Increased circulating cortisol level, Increased urinary cortisol level... ORPHA:99889
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Atelectasis, Pleural effusion, Splenomegaly, Hepatomegaly, Air bronchogram, ... OMIM:306400
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Bronchitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice... ORPHA:60
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Stillbirth, Abnormal lung lobation OMIM:236680
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, D... ORPHA:320
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Cryptorchidism, Pancreatitis, Pulmonary... OMIM:620371
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Digeorge Syndrome
Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Atelectasis, Hepatic steatosis, Ovar... OMIM:188400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Dysphagia, Atelectasis ORPHA:258
Tetraamelia Syndrome 1
Asplenia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia OMIM:273395
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
22Q11.2 Deletion Syndrome
Cholelithiasis, Atelectasis, Abnormal lung lobation, Cryptorchidism, Splenomegaly, Hypoplasia of ... ORPHA:567
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory tract infection, Elevated circulating alanine aminotransferase concentra... ORPHA:365
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Glucocorticoid Deficiency 2
Recurrent pneumonia, Hypoglycemia, Bilateral cryptorchidism, Recurrent hypoglycemia, Increased ci... OMIM:607398
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Craniorachischisis
Bifid sternum ORPHA:63260
Relapsing Polychondritis
Hepatitis, Atelectasis ORPHA:728
Chand Syndrome
Atelectasis ORPHA:1401
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Aspiration pneumonia ORPHA:79500
Coffin-Lowry Syndrome
Bifid sternum, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing, Short metacarpal,... OMIM:303600
African Trypanosomiasis
Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Aggressive behavior,... ORPHA:3385

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mrap

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mrap.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MRAP2 regulates energy homeostasis by promoting primary cilia localization of MC4R. JCI insight (January 2023) Mrap2tm1a(EUCOMM)Wtsi PMC9977312
The Insulinostatic Effect of Ghrelin Requires MRAP2 Expression in δ Cells. iScience (June 2020) Mrap2tm1c(EUCOMM)Wtsi Mrap2tm1a(EUCOMM)Wtsi PMC7300157
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mrap2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Mrap2tm1a(EUCOMM)Wtsi PMC6459510
MRAP2 regulates ghrelin receptor signaling and hunger sensing. Nature communications (September 2017) Mrap2tm1c(EUCOMM)Wtsi Mrap2tm1a(EUCOMM)Wtsi PMC5620068
Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol. The Journal of endocrinology (April 2016) Mrap2tm1a(EUCOMM)Wtsi PMC5064762
The Melanocortin Receptor Accessory Protein 2 promotes food intake through inhibition of the Prokineticin Receptor-1. eLife (February 2016) Mrap2tm1a(EUCOMM)Wtsi PMC4786424

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MGI Allele Allele Type Produced
Mrapem1(IMPC)Tcp Exon Deletion Mice
Mraptm364278(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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