Incidental Mutation 'IGL00501:Grk1'
ID5067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk1
Ensembl Gene ENSMUSG00000031450
Gene NameG protein-coupled receptor kinase 1
SynonymsRK, Rhok
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00501
Quality Score
Status
Chromosome8
Chromosomal Location13405081-13421951 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13407835 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 245 (V245E)
Ref Sequence ENSEMBL: ENSMUSP00000147484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033827] [ENSMUST00000209909]
Predicted Effect probably damaging
Transcript: ENSMUST00000033827
AA Change: V245E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: V245E

DomainStartEndE-ValueType
RGS 57 175 7.34e-35 SMART
S_TKc 190 455 3.42e-81 SMART
S_TK_X 456 535 3.21e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209909
AA Change: V245E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211027
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]
PHENOTYPE: Analysis of homozygous null mice revealed abnormal photoresponses and light-induced apoptosis in rods. Mutant mice may serve as models of Oguchi disease and retinal degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik G A 18: 40,257,387 probably benign Het
Acat1 T C 9: 53,582,595 I409V probably damaging Het
Adck1 A G 12: 88,368,422 N26S probably benign Het
Adgrf5 G A 17: 43,449,915 A834T possibly damaging Het
Agpat5 T C 8: 18,876,132 probably null Het
Ano8 A C 8: 71,479,149 probably null Het
Baz2a T A 10: 128,114,625 M476K probably benign Het
Col16a1 A G 4: 130,094,552 probably null Het
Cyp3a13 A T 5: 137,911,933 I113N probably benign Het
Dstn A G 2: 143,942,174 T146A probably benign Het
Eif2ak1 A T 5: 143,889,470 M434L probably damaging Het
Fam126a A G 5: 23,985,845 probably benign Het
Gba2 G A 4: 43,568,477 A663V probably damaging Het
Gja10 T C 4: 32,601,230 T385A possibly damaging Het
Gm42878 A C 5: 121,533,343 I209R probably damaging Het
H2afz T C 3: 137,865,596 V53A probably damaging Het
Klhdc8b C T 9: 108,448,906 R263H probably benign Het
Lcn8 T C 2: 25,655,107 probably benign Het
Ldlr T C 9: 21,735,361 probably null Het
Lrrc40 T C 3: 158,061,282 F458S probably damaging Het
Lypla1 T A 1: 4,828,587 H35Q probably damaging Het
Mb21d1 G A 9: 78,435,587 A311V probably damaging Het
Mink1 C T 11: 70,603,812 T273I probably damaging Het
Neb A G 2: 52,295,344 F959L probably benign Het
Nedd4l A T 18: 65,208,092 D704V probably damaging Het
Peak1 C T 9: 56,227,326 E1274K probably damaging Het
Prkcz G T 4: 155,294,401 probably benign Het
Rabgap1 T A 2: 37,469,546 N40K probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spink5 A G 18: 43,977,739 T126A probably damaging Het
Tanc2 T C 11: 105,923,220 V1830A probably benign Het
Tmem104 T C 11: 115,243,937 I433T probably damaging Het
Trim10 G A 17: 36,877,047 R385K probably benign Het
Zbtb44 A G 9: 31,054,310 I339V possibly damaging Het
Other mutations in Grk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Grk1 APN 8 13413128 nonsense probably null
IGL00772:Grk1 APN 8 13405349 missense probably benign
IGL00905:Grk1 APN 8 13416068 missense probably benign 0.32
IGL01116:Grk1 APN 8 13405404 missense possibly damaging 0.52
IGL01976:Grk1 APN 8 13415993 missense probably damaging 1.00
R0463:Grk1 UTSW 8 13409279 missense probably damaging 1.00
R1600:Grk1 UTSW 8 13405406 missense probably benign 0.01
R1838:Grk1 UTSW 8 13416155 missense possibly damaging 0.77
R1911:Grk1 UTSW 8 13407923 missense probably damaging 0.99
R2122:Grk1 UTSW 8 13405221 missense probably benign 0.01
R4583:Grk1 UTSW 8 13409322 missense probably damaging 0.99
R5347:Grk1 UTSW 8 13414478 missense probably damaging 1.00
R5520:Grk1 UTSW 8 13409305 missense probably benign
R5682:Grk1 UTSW 8 13414351 missense possibly damaging 0.88
R6145:Grk1 UTSW 8 13405765 nonsense probably null
R6329:Grk1 UTSW 8 13405704 missense probably damaging 1.00
R6415:Grk1 UTSW 8 13413127 missense probably damaging 1.00
R6717:Grk1 UTSW 8 13416237 missense probably benign 0.01
R7421:Grk1 UTSW 8 13405316 missense probably damaging 1.00
R8401:Grk1 UTSW 8 13407846 missense probably damaging 1.00
Posted On2012-04-20