Incidental Mutation 'IGL00772:Grk1'
ID13523
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 #IGL00772
Quality Score
Status
Chromosome8
Chromosomal Location13405081-13421951 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13405349 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 78 (T78A)
Ref Sequence ENSEMBL: ENSMUSP00000147484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033827] [ENSMUST00000209909]
Predicted Effect probably benign
Transcript: ENSMUST00000033827
AA Change: T78A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: T78A

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 benign
Transcript: ENSMUST00000209909
AA Change: T78A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A T 1: 59,169,896 C1501* probably null Het
Ap3b2 T C 7: 81,471,949 E513G probably damaging Het
Cdh19 T C 1: 110,949,252 D119G probably damaging Het
Clasp2 A G 9: 113,905,992 probably benign Het
Cobl A G 11: 12,266,985 M419T probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctu2 T C 8: 122,477,238 probably benign Het
Dnah2 A C 11: 69,451,257 Y2968D probably damaging Het
Eme1 A G 11: 94,645,451 L564P probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Folh1 A G 7: 86,731,784 S494P probably damaging Het
Fras1 T A 5: 96,636,112 I825N probably benign Het
Lipi A T 16: 75,550,366 probably benign Het
Mak A T 13: 41,055,820 probably benign Het
Prkd1 T C 12: 50,383,416 E636G probably damaging Het
Psmd1 T C 1: 86,090,198 probably benign Het
Scara5 G A 14: 65,670,562 probably benign Het
Skint8 A G 4: 111,938,923 I265V probably benign Het
Slc48a1 A G 15: 97,789,954 Y63C probably damaging Het
Slc4a2 G T 5: 24,435,196 V598L probably damaging Het
Smo A T 6: 29,758,894 K565* probably null Het
Spink5 A G 18: 44,006,420 I617V probably benign Het
Tmed11 T C 5: 108,786,165 D55G probably benign Het
Tro A G X: 150,655,325 V112A probably benign Het
Utrn G A 10: 12,649,185 R2185C probably benign Het
Other mutations in Grk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Grk1 APN 8 13413128 nonsense probably null
IGL00501:Grk1 APN 8 13407835 missense probably damaging 1.00
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 On2012-12-06