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
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
increased grip strength Ralgapbtm1a(KOMP)Wtsi HET Early adult 3.06×10-27

Download data as:  TSV  XLS

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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 Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

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 1
Hypokalemia OMIM:170400
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Liddle Syndrome
Hypokalemia ORPHA:526
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Hypomagnesemia, Seizures, And Mental Retardation 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
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:612780
Bartter Syndrome, Type 3
Hyperchloriduria, Increased circulating renin level, Hypokalemia OMIM:607364
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Mercury Poisoning
Hypokalemia ORPHA:330021
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia OMIM:619377
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Gitelman Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:263800
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia OMIM:608885
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
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Hypocalcemia ORPHA:699
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Gitelman Syndrome
Hypermagnesemia, Hypocalcemia, Hypokalemia, Hypomagnesemia ORPHA:358
Vipoma
Hypercalcemia, Hypokalemia ORPHA:97282
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia ORPHA:786
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... ORPHA:466677
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia OMIM:619573
Nelson Syndrome
Hypokalemia ORPHA:199244
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Proximal Renal Tubular Acidosis
Bicarbonaturia, Hypokalemia, Hyperuricosuria ORPHA:47159
Tsh-Secreting Pituitary Adenoma
Hypokalemia ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Leprechaunism
Increased circulating renin level, Hypokalemia ORPHA:508
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:85138
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... ORPHA:289548
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:275761
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Hypocalcemia ORPHA:544482
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Vascular Ehlers-Danlos Syndrome
Hypokalemia ORPHA:286
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia 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 PMC5827107

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