Gene Summary

Name:
Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms:
B230339M05Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Ralgapbtm1a(KOMP)Wtsi HET Early adult 3.06×10-27
decreased circulating potassium level Ralgapbtm1a(KOMP)Wtsi HET Early adult 4.46×10-06
preweaning lethality, complete penetrance Ralgapbtm1a(KOMP)Wtsi HOM   Early adult 0.00

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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

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 88 images

Human diseases caused by Ralgapb 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 Ralgapb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Liddle Syndrome
Hypokalemia ORPHA:526
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia OMIM:604278
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia ORPHA:682
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
East Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level ORPHA:199343
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia OMIM:602522
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:612780
Mercury Poisoning
Hypokalemia ORPHA:330021
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration OMIM:619377
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Increased circulating renin level OMIM:263800
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... OMIM:601678
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
Bartter Syndrome Type 4
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia ORPHA:89938
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:427
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carniti... OMIM:219800
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Hyperalaninemia ORPHA:699
Bartter Syndrome, Type 2, Antenatal
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... OMIM:241200
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... ORPHA:94093
Gitelman Syndrome
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia ORPHA:358
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyponatremia, Hypercholesterolemia ORPHA:534
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Nelson Syndrome
Hypokalemia ORPHA:199244
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration OMIM:619573
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:90791
Acute Adrenal Insufficiency
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:95409
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia ORPHA:47159
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Leprechaunism
Hypokalemia, Increased circulating renin level ORPHA:508
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Addison Disease
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:85138
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Hyponatremia, Hypercholesterolemia ORPHA:275761
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia ORPHA:544482
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Hyponatremia ORPHA:90794

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 Ralgapb

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 Ralgapb.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ralgapbtm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ralgapbtm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ralgapbtm1a(KOMP)Wtsi PMC6459510
RalA controls glucose homeostasis by regulating glucose uptake in brown fat. Proceedings of the National Academy of Sciences of the United States of America (June 2018) Ralgapbtm1a(KOMP)Wtsi PMC6065037
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ralgapbtm1a(KOMP)Wtsi Ralgapbtm1a(KOMP)Wtsi