Incidental Mutation 'IGL01116:Grk1'
ID 51794
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk1
Ensembl Gene ENSMUSG00000031450
Gene Name G protein-coupled receptor kinase 1
Synonyms Rhok, RK
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01116
Quality Score
Status
Chromosome 8
Chromosomal Location 13455081-13471951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13455404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 96 (D96G)
Ref Sequence ENSEMBL: ENSMUSP00000147484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033827] [ENSMUST00000209909]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033827
AA Change: D96G

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: D96G

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 possibly damaging
Transcript: ENSMUST00000209909
AA Change: D96G

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,849,911 (GRCm39) M951L probably benign Het
Als2 T C 1: 59,225,163 (GRCm39) probably benign Het
Arhgap26 T C 18: 39,244,856 (GRCm39) V167A probably damaging Het
Bbs1 A G 19: 4,952,867 (GRCm39) probably benign Het
Capn11 A T 17: 45,949,806 (GRCm39) probably benign Het
Cenpl G T 1: 160,910,857 (GRCm39) S268I possibly damaging Het
Coq8b T C 7: 26,939,282 (GRCm39) V144A possibly damaging Het
Exo1 T A 1: 175,728,963 (GRCm39) C10S possibly damaging Het
Fam193b A T 13: 55,691,266 (GRCm39) S203T probably damaging Het
Ggact T C 14: 123,129,167 (GRCm39) N16S probably damaging Het
Gm3940 A T 1: 52,129,882 (GRCm39) probably benign Het
Gm5458 G T 14: 19,649,760 (GRCm39) L155I probably damaging Het
Golm1 T C 13: 59,797,470 (GRCm39) K125R probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria1 A G 11: 57,127,801 (GRCm39) N337D probably damaging Het
Gripap1 G A X: 7,678,705 (GRCm39) G464D probably benign Het
Hsf1 T C 15: 76,382,403 (GRCm39) V258A probably benign Het
Ighv7-4 A G 12: 114,186,653 (GRCm39) S40P probably damaging Het
Igkv4-50 G A 6: 69,677,921 (GRCm39) S61L probably benign Het
Igkv4-62 C T 6: 69,377,035 (GRCm39) G38E probably damaging Het
Ints1 T C 5: 139,757,437 (GRCm39) D358G probably damaging Het
Madd A G 2: 90,984,888 (GRCm39) probably benign Het
Map3k6 A G 4: 132,974,439 (GRCm39) S580G probably damaging Het
Myef2 A G 2: 124,940,402 (GRCm39) M383T probably damaging Het
Myo3b T C 2: 70,119,730 (GRCm39) L930P probably damaging Het
Ndufaf3 C T 9: 108,444,068 (GRCm39) R20Q probably benign Het
Npr2 T C 4: 43,640,248 (GRCm39) S328P probably damaging Het
Or1r1 A T 11: 73,875,144 (GRCm39) C97S probably damaging Het
Or4k15b T A 14: 50,272,507 (GRCm39) M118L probably benign Het
Pdpr T C 8: 111,839,342 (GRCm39) I155T possibly damaging Het
Phf11b A T 14: 59,560,631 (GRCm39) I216K probably benign Het
Phkg1 T C 5: 129,893,813 (GRCm39) probably null Het
Pik3r6 A G 11: 68,422,276 (GRCm39) Y225C probably benign Het
Plekhh2 A T 17: 84,914,356 (GRCm39) D1253V possibly damaging Het
Plppr3 T C 10: 79,702,757 (GRCm39) T155A probably damaging Het
Ppp6r2 T C 15: 89,166,192 (GRCm39) F732S probably damaging Het
Ryr1 A G 7: 28,799,627 (GRCm39) probably benign Het
Slc16a8 T G 15: 79,135,432 (GRCm39) S459R probably damaging Het
Slc25a12 A T 2: 71,123,696 (GRCm39) probably benign Het
Slc38a2 T C 15: 96,591,066 (GRCm39) probably benign Het
Slit1 C A 19: 41,594,824 (GRCm39) W1182L possibly damaging Het
Snx2 C T 18: 53,327,495 (GRCm39) probably benign Het
Sos1 A T 17: 80,752,929 (GRCm39) V335D probably damaging Het
St18 A G 1: 6,872,856 (GRCm39) D197G probably damaging Het
Ston2 G T 12: 91,615,522 (GRCm39) N295K possibly damaging Het
Stpg3 A G 2: 25,103,191 (GRCm39) probably benign Het
Tmem63a A G 1: 180,799,654 (GRCm39) I675V probably damaging Het
Vmn2r16 T A 5: 109,488,294 (GRCm39) L389Q probably damaging Het
Vps13d C A 4: 144,699,320 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,934 (GRCm39) D3012E probably damaging Het
Other mutations in Grk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Grk1 APN 8 13,463,128 (GRCm39) nonsense probably null
IGL00501:Grk1 APN 8 13,457,835 (GRCm39) missense probably damaging 1.00
IGL00772:Grk1 APN 8 13,455,349 (GRCm39) missense probably benign
IGL00905:Grk1 APN 8 13,466,068 (GRCm39) missense probably benign 0.32
IGL01976:Grk1 APN 8 13,465,993 (GRCm39) missense probably damaging 1.00
R0463:Grk1 UTSW 8 13,459,279 (GRCm39) missense probably damaging 1.00
R1600:Grk1 UTSW 8 13,455,406 (GRCm39) missense probably benign 0.01
R1838:Grk1 UTSW 8 13,466,155 (GRCm39) missense possibly damaging 0.77
R1911:Grk1 UTSW 8 13,457,923 (GRCm39) missense probably damaging 0.99
R2122:Grk1 UTSW 8 13,455,221 (GRCm39) missense probably benign 0.01
R4583:Grk1 UTSW 8 13,459,322 (GRCm39) missense probably damaging 0.99
R5347:Grk1 UTSW 8 13,464,478 (GRCm39) missense probably damaging 1.00
R5520:Grk1 UTSW 8 13,459,305 (GRCm39) missense probably benign
R5682:Grk1 UTSW 8 13,464,351 (GRCm39) missense possibly damaging 0.88
R6145:Grk1 UTSW 8 13,455,765 (GRCm39) nonsense probably null
R6329:Grk1 UTSW 8 13,455,704 (GRCm39) missense probably damaging 1.00
R6415:Grk1 UTSW 8 13,463,127 (GRCm39) missense probably damaging 1.00
R6717:Grk1 UTSW 8 13,466,237 (GRCm39) missense probably benign 0.01
R7421:Grk1 UTSW 8 13,455,316 (GRCm39) missense probably damaging 1.00
R8401:Grk1 UTSW 8 13,457,846 (GRCm39) missense probably damaging 1.00
R8785:Grk1 UTSW 8 13,458,058 (GRCm39) intron probably benign
Posted On 2013-06-21