Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
G protein-coupled receptor kinase 2
Synonyms:
beta ARK,  beta ARK1,  beta-AR kinase-1,  beta-adrenergic receptor kinase-1,  Bark-1,  Adrbk-1,  betaARK1,  Adrbk1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Grk2 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 Grk2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Syncope, Atrial fibrillation, Abnormal left ventricular function, Tr... ORPHA:75249
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, R... OMIM:616028
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Right atrial enlargement, Restrictive cardiomyo... OMIM:619313
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Cyclic Vomiting Syndrome
Growth delay, Pallor, Cardiomyopathy OMIM:500007
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Neonatal ... OMIM:619167
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Pallor, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
American Trypanosomiasis
Arrhythmia, Achalasia, Congestive heart failure, Myocarditis, Pallor, Cardiomyopathy ORPHA:3386
Beta-Thalassemia
Pallor, Skin ulcer, Hypertrophic cardiomyopathy ORPHA:848
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor ORPHA:71518
Retinitis Pigmentosa 42
Pallor OMIM:612943
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Intrauterine growth retardation, Short stature, ... OMIM:609053
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Pericarditis ORPHA:163596
Retinitis Pigmentosa 81
Pallor OMIM:617871
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Pallor OMIM:606353
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Optic Atrophy 1
Pallor OMIM:165500
Hereditary Spherocytosis
Restrictive cardiomyopathy, Growth delay, Pallor, Skin ulcer ORPHA:822
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Retinitis Pigmentosa 70
Pallor OMIM:615922
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Generalized limb muscle atrophy, Pallor OMIM:600462
Retinitis Pigmentosa 27
Pallor OMIM:613750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Dominant Beta-Thalassemia
Arrhythmia, Growth delay, Delayed puberty, Hypoplasia of the musculature, High-output congestive ... ORPHA:231226
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Breath-Holding Spells
Pallor OMIM:607578
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Pallor, Syncope ORPHA:324575
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Delayed puberty, Right ventricular hypertrophy, ... OMIM:300967
Beta-Thalassemia Major
Arrhythmia, Growth delay, Delayed puberty, Hypoplasia of the musculature, High-output congestive ... ORPHA:231214
Retinitis Pigmentosa 73
Pallor OMIM:616544
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Pallor, Short stature OMIM:615631
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Sh... OMIM:105650
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Atrial situs ambiguous, Tr... ORPHA:99125
Evans Syndrome
Petechiae, Pallor, Epistaxis, Syncope ORPHA:1959
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Hypotension, Pallor, Cardiac arrest ORPHA:20
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Fanconi Anemia, Complementation Group C
Anemic pallor, Ventricular septal defect, Flexion contracture, Short stature, Intrauterine growth... OMIM:227645
Myopathy, Mitochondrial, And Ataxia
Growth delay, Distal amyotrophy, Short stature, Pallor, Increased variability in muscle fiber dia... OMIM:617675
Alternating Hemiplegia Of Childhood
Arrhythmia, Facial hypotonia, Cardiac conduction abnormality, Abnormal T-wave, Pallor, Cardiomyop... ORPHA:2131
Fanconi Anemia, Complementation Group E
Anemic pallor, Short stature, Abnormal heart morphology OMIM:600901
Fanconi Anemia, Complementation Group A
Anemic pallor, Short stature, Abnormal heart morphology OMIM:227650
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Short stature OMIM:611590
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Pallor ORPHA:90037
Autoimmune Hemolytic Anemia
Arrhythmia, Pallor, Congestive heart failure ORPHA:98375
Primary Myelofibrosis
Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism,... ORPHA:3260
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor ORPHA:75564
Blackfan-Diamond Anemia
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Growth delay, Short s... ORPHA:124
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Pallor ORPHA:3226
Rare Circulatory System Disease
Elbow flexion contracture, Pallor, Intermittent claudication ORPHA:98028
Dravet Syndrome
Pallor ORPHA:33069
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Retinitis Pigmentosa 51
Pallor OMIM:613464
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Hereditary Folate Malabsorption
Pallor, Skeletal muscle atrophy ORPHA:90045
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Pericardial effus... ORPHA:91347
Esophageal Atresia
Tetralogy of Fallot, Growth delay, Pallor, Ventricular septal defect ORPHA:1199
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Pallor ORPHA:263455
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia, Pallor ORPHA:90033
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Growth delay, Pallor, Pulmonary arterial hypertension ORPHA:667
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Short stature, Melena ORPHA:98870
Fanconi Anemia, Complementation Group D2
Anemic pallor, Short stature, Abnormal heart morphology OMIM:227646
Cold Agglutinin Disease
Pallor ORPHA:56425
Sepsis In Premature Infants
Purpura, Hypotension, Petechiae, Tachycardia, Bradycardia, Pallor ORPHA:90051
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Congestive heart failure, Vasculitis, Retinal he... ORPHA:33226
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Irida Syndrome
Pallor ORPHA:209981
Myelofibrosis
Pallor, Purpura OMIM:254450
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Pallor, Skin ulcer, High-output congestive heart failure ORPHA:231222
Infection-Related Hemolytic Uremic Syndrome
Pallor, Hypertensive crisis, Hypertension, Myocarditis ORPHA:544482
Paroxysmal Nocturnal Hemoglobinuria
Angina pectoris, Pulmonary embolism, Myocardial infarction, Pulmonary arterial hypertension, Tran... ORPHA:447
Beta-Ketothiolase Deficiency
Hypotension, Pallor, Hypertension ORPHA:134
Senior-Loken Syndrome 8
Pallor OMIM:616307
Retinitis Pigmentosa 75
Pallor OMIM:617023
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Pallor, Bradycardia, Dry skin ORPHA:91355
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Pallor, Syncope ORPHA:98849
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Fumarase Deficiency
Pallor OMIM:606812
Pituitary Apoplexy
Hypotension, Pallor, Hypertension ORPHA:95613
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Proximal amyotrophy, Hypertensive cr... ORPHA:653
Incontinentia Pigmenti
Pallor, Retinal hemorrhage, Short stature, Erythema OMIM:308300
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Letterer-Siwe Disease
Pallor OMIM:246400
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Elliptocytosis 1
Pallor OMIM:611804
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Mitral regurgitation, Abnormal left ventricular function, ... ORPHA:391665
Childhood Absence Epilepsy
Pallor ORPHA:64280
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Retinal hemorrhage ORPHA:86839
Aregenerative Anemia
Pallor ORPHA:101096
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay, Hematochezia ORPHA:329971
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Goodpasture Syndrome
Pulmonary hemorrhage, Pallor OMIM:233450

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 Grk2

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 Grk2.

No publications found that use IMPC mice or data for Grk2.

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MGI Allele Allele Type Produced
Grk2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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