Gene Summary

Name:
G-protein-coupled receptor 50
Synonyms:
H9

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images hemizygote 100% (2 of 2)
Ileum  Section images hemizygote 100% (2 of 2)
Thymus  Section images hemizygote 50% (1 of 2)
Vas deferens  Section images hemizygote 100% (2 of 2)
Adrenal gland N/A hemizygote 0.0% (0 of 2)
Aorta N/A hemizygote 0.0% (0 of 2)
Blood N/A hemizygote 0.0% (0 of 2)
Bone marrow N/A hemizygote 0.0% (0 of 2)
Brain N/A hemizygote 0.0% (0 of 2)
Brainstem N/A hemizygote Not available
Brown adipose tissue N/A hemizygote 0.0% (0 of 2)
Cartilage tissue N/A hemizygote Not available
Cecum N/A hemizygote 50% (1 of 2)
Cerebellum N/A hemizygote 0.0% (0 of 2)
Cerebral cortex N/A hemizygote Not available
Chest bone N/A hemizygote Not available
Colon N/A hemizygote 50% (1 of 2)
Diaphragm N/A hemizygote 0.0% (0 of 2)
Duodenum N/A hemizygote 0.0% (0 of 2)
Esophagus N/A hemizygote 0.0% (0 of 2)
Eye N/A hemizygote 0.0% (0 of 2)
Gall bladder N/A hemizygote Not available
Gonadal fat pad N/A hemizygote 0.0% (0 of 2)
Harderian gland N/A hemizygote 0.0% (0 of 2)
Heart N/A hemizygote Not available
Hindlimb N/A hemizygote Not available
Hippocampus N/A hemizygote Not available
Hypothalamus N/A hemizygote Not available
Jejunum N/A hemizygote 0.0% (0 of 2)
Kidney N/A hemizygote 0.0% (0 of 2)
Large intestine N/A hemizygote 50% (1 of 2)
Liver N/A hemizygote 0.0% (0 of 2)
Lower urinary tract N/A hemizygote Not available
Lung N/A hemizygote 0.0% (0 of 2)
Lymph node N/A hemizygote Not available
Mammary gland N/A hemizygote Not available
Mesenteric adipose tissue N/A hemizygote 0.0% (0 of 2)
Mesenteric lymph node N/A hemizygote 0.0% (0 of 2)
Midbrain N/A hemizygote 0.0% (0 of 2)
Olfactory lobe N/A hemizygote 0.0% (0 of 2)
Ovary N/A hemizygote Not available
Oviduct N/A hemizygote Not available
Pancreas N/A hemizygote 0.0% (0 of 2)
Parathyroid gland N/A hemizygote Not available
Parotid gland N/A hemizygote 0.0% (0 of 2)
Penis N/A hemizygote 0.0% (0 of 2)
Peripheral nervous system N/A hemizygote Not available
Peyer's patch N/A hemizygote Not available
Pituitary gland N/A hemizygote 0.0% (0 of 2)
Prostate gland N/A hemizygote 0.0% (0 of 2)
Quadriceps N/A hemizygote 0.0% (0 of 2)
Sciatic nerve N/A hemizygote 0.0% (0 of 2)
Skeletal muscle N/A hemizygote Not available
Skin N/A hemizygote 0.0% (0 of 2)
Small intestine N/A hemizygote 100% (2 of 2)
Spinal cord N/A hemizygote 0.0% (0 of 2)
Spleen N/A hemizygote 0.0% (0 of 2)
Stomach pyloric region N/A hemizygote Not available
Stomach N/A hemizygote 50% (1 of 2)
Striatum N/A hemizygote Not available
Sublingual gland N/A hemizygote 0.0% (0 of 2)
Submandibular gland N/A hemizygote 0.0% (0 of 2)
Testis N/A hemizygote 50% (1 of 2)
Thyroid gland N/A hemizygote 0.0% (0 of 2)
Tongue N/A hemizygote 0.0% (0 of 2)
Trachea N/A hemizygote 0.0% (0 of 2)
Trigeminal V nerve N/A hemizygote 0.0% (0 of 2)
Urinary bladder N/A hemizygote 0.0% (0 of 2)
Uterus N/A hemizygote Not available
Vagina N/A hemizygote Not available
Vascular system N/A hemizygote Not available
Vesicular gland N/A hemizygote 0.0% (0 of 2)
White adipose tissue N/A hemizygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
chest bone Unavailable
colon 15.83% (22 of 139)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.72% (1 of 138)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
ileum 13.97% (19 of 136)
jejunum 8.63% (12 of 139)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 319)
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
tongue 3.65% (5 of 137)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vagina 0.0%
vas deferens 4.64% (18 of 388)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

12 Images

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Hind Leg and Hip

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Gpr50 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gpr50 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity, Short stature OMIM:616311
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Polyphagia, Increased adipose tissue ORPHA:71529
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Insulin-Like Growth Factor I Deficiency
Intrauterine growth retardation, Decreased body weight, Hyperactivity, Short stature OMIM:608747
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia OMIM:248100
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Childhood-onset truncal obesity, Polyphagia, Delayed puberty, In... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Childhood-onset truncal obesity, Polyphagia, Delayed puberty, In... ORPHA:71526
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia, Short stature ORPHA:329249
Immunodeficiency 8
Hyperactivity OMIM:615401
Obesity Due To Sim1 Deficiency
Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia OMIM:618406
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Abnormal eating behavior OMIM:614962
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Short stature OMIM:300271
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Growth delay ORPHA:163690
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss, Hyperactivity OMIM:275000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia, Hyperactivity ORPHA:411515
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Leptin Receptor Deficiency
Short stature, Abnormal eating behavior, Polyphagia, Delayed puberty, Obesity OMIM:614963
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Hyperactivity, Small for gestational age ORPHA:85288
Smith-Magenis syndrome
Hyperactivity, Short stature DECIPHER:8
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Short stature ORPHA:177910
Temple Syndrome
Postnatal growth retardation, Short stature, Small for gestational age, Polyphagia, Obesity ORPHA:254516
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
2Q23.1 Microdeletion Syndrome
Growth delay, Polyphagia, Hyperactivity, Short stature ORPHA:228402
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Schaaf-Yang Syndrome
Flexion contracture, Short stature, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita... OMIM:615547
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Trisomy 18P
Intrauterine growth retardation, Polyphagia, Attention deficit hyperactivity disorder, Short stature ORPHA:1715
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder OMIM:615538
Huntington Disease
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia ORPHA:399
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Polyphagia, Truncal obesity OMIM:615986
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Polyphagia, Small for gestational age ORPHA:324575
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Body Mass Index Quantitative Trait Locus 19
Obesity, Polyphagia OMIM:617885
Pick Disease Of Brain
Polyphagia OMIM:172700
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Polyphagia ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Polyphagia ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Polyphagia ORPHA:276580
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Postnatal growth retardation OMIM:606407
Frontotemporal Dementia
Polyphagia OMIM:600274
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Hyperactivity, Polyphagia, Intrauterine growth retardation ORPHA:525731
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Hyperactivity, Small for gestational a... ORPHA:73272
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Polyphagia, Growth delay ORPHA:95427
Insulinoma
Increased body weight, Polyphagia ORPHA:97279
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Polyphagia, Delayed puberty, Obesity, Abnormal dental enamel morphology ORPHA:251004
Luscan-Lumish Syndrome
Obesity, Polyphagia, Short stature OMIM:616831
Obesity Due To Congenital Leptin Deficiency
Obesity, Polyphagia ORPHA:66628
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Polyphagia ORPHA:179494
Angelman Syndrome
Hyperactivity, Delayed menarche, Polyphagia, Dysphagia, Obesity ORPHA:72
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Short stature, Camptodactyly, ... ORPHA:412035
Prader-Willi Syndrome
Abdominal obesity, Short stature, Polyphagia, Attention deficit hyperactivity disorder, Delayed p... OMIM:176270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Short stature, Small for gestational age, Bulimia, Polyphagia, Delayed puberty... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Short stature, Small for gestational age, Bulimia, Polyphagia, Delayed puberty... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Short stature, Small for gestational age, Bulimia, Polyphagia, Delayed puberty... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Short stature, Small for gestational age, Bulimia, Polyphagia, Delayed puberty... ORPHA:177901
Intellectual Developmental Disorder, Autosomal Dominant 1
Postnatal growth retardation, Polyphagia, Short stature OMIM:156200
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Flexion contracture, Short stature, Polyphagia, Increased b... ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Polyphagia, Obesity ORPHA:398079
7Q11.23 Microduplication Syndrome
Growth delay, Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Short stature, Pol... ORPHA:96121
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Short stature, Polyphagia, Attention deficit hyperactivity ... ORPHA:739
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Polyphagia OMIM:612469
Prader-Willi-Like Syndrome
Failure to thrive, Short stature, Small for gestational age, Bulimia, Polyphagia, Delayed puberty... ORPHA:398073
Adnp Syndrome
Inguinal hernia, Short stature, Truncal obesity, Polyphagia, Attention deficit hyperactivity diso... ORPHA:404448
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Postnatal growth retardation, Polyphagia ORPHA:251028
Craniopharyngioma
Growth delay, Postnatal growth retardation, Proportionate short stature, Polyphagia, Delayed pube... ORPHA:54595
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Weaver Syndrome
Joint contracture of the hand, Inguinal hernia, Camptodactyly, Polyphagia, Umbilical hernia OMIM:277590
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Reduced intrathoracic... OMIM:608594
X-Linked Acrogigantism
Polyphagia, Increased body mass index, Delayed puberty ORPHA:300373
Gangliocytoma
Polyphagia ORPHA:251937
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Reduced intrathoracic... OMIM:269700
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Obesity, Polyphagia, Short stature ORPHA:79444
Early-Onset Schizophrenia
Polyphagia, Attention deficit hyperactivity disorder ORPHA:96369
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Short stature, Cyanosis, Polyphagia, Delayed puberty, Obesity ORPHA:293987
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Obesity, Polyphagia, Short stature ORPHA:79443
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Small for gestational age ORPHA:424
1P36 Deletion Syndrome
Failure to thrive, Short stature, Camptodactyly of finger, Polyphagia, Dysphagia, Obesity ORPHA:1606
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity ORPHA:99819
Chromosome 1P36 Deletion Syndrome, Distal
Growth delay, Camptodactyly of finger, Camptodactyly, Polyphagia, Dysphagia, Obesity OMIM:607872
Histidinemia
Hyperactivity ORPHA:2157
Alström Syndrome
Short stature, Delayed menarche, Truncal obesity, Polyphagia, Obesity, Dorsocervical fat pad ORPHA:64

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 Gpr50

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 Gpr50.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Gpr50tm1.1(KOMP)Vlcg PMC5638796

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MGI Allele Allele Type Produced
Gpr50tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpr50tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Gpr50tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gpr50tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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