Incidental Mutation 'R5682:Grk1'
ID 443119
Institutional Source Beutler Lab
Gene Symbol Grk1
Ensembl Gene ENSMUSG00000031450
Gene Name G protein-coupled receptor kinase 1
Synonyms Rhok, RK
MMRRC Submission 043318-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5682 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 13455081-13471951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13464351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 408 (I408F)
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: I408F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: I408F

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: I408F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211027
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,283,723 (GRCm39) S7T probably benign Het
Acot4 G A 12: 84,085,576 (GRCm39) V98M probably damaging Het
Acsm2 A T 7: 119,162,774 (GRCm39) N41I probably benign Het
Adamtsl3 A T 7: 82,255,758 (GRCm39) N1590I probably damaging Het
Ank3 G A 10: 69,729,347 (GRCm39) G714R probably damaging Het
Armh4 T C 14: 49,989,043 (GRCm39) D642G probably damaging Het
Ash1l G A 3: 88,914,914 (GRCm39) R1848Q probably damaging Het
Atp1a4 A T 1: 172,081,730 (GRCm39) Y141N probably damaging Het
Atxn3 A T 12: 101,924,406 (GRCm39) I1N probably damaging Het
Avil A C 10: 126,849,973 (GRCm39) Q608P probably damaging Het
Axin1 T C 17: 26,406,775 (GRCm39) V456A probably benign Het
Cacna1g A G 11: 94,349,940 (GRCm39) L635P probably damaging Het
Card11 G A 5: 140,888,666 (GRCm39) Q231* probably null Het
Ccdc162 G A 10: 41,432,799 (GRCm39) R500* probably null Het
Cdh24 T C 14: 54,874,805 (GRCm39) D400G probably damaging Het
Cep112 T C 11: 108,361,138 (GRCm39) L164P probably damaging Het
Corin A G 5: 72,579,497 (GRCm39) S224P possibly damaging Het
Csgalnact2 T C 6: 118,097,953 (GRCm39) Y371C probably damaging Het
Cspg4 A T 9: 56,793,480 (GRCm39) E405V probably benign Het
Ctnna3 T A 10: 64,709,085 (GRCm39) M708K probably damaging Het
Cyp7a1 T A 4: 6,268,429 (GRCm39) Y432F probably benign Het
Dcaf11 T A 14: 55,800,883 (GRCm39) V113E probably damaging Het
Dhx29 T C 13: 113,067,383 (GRCm39) I88T probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Elmo2 A G 2: 165,139,330 (GRCm39) F406L probably damaging Het
Eps15l1 G A 8: 73,125,592 (GRCm39) Q648* probably null Het
Fam171a1 G A 2: 3,227,126 (GRCm39) R753Q probably damaging Het
Figla T A 6: 85,995,604 (GRCm39) V86E probably damaging Het
Galnt7 C A 8: 58,036,967 (GRCm39) E141* probably null Het
Garnl3 A G 2: 32,944,185 (GRCm39) Y125H probably damaging Het
Gnb5 A G 9: 75,234,523 (GRCm39) D74G probably damaging Het
Has1 A T 17: 18,064,425 (GRCm39) W405R possibly damaging Het
Hdac5 A G 11: 102,104,749 (GRCm39) probably benign Het
Helq T A 5: 100,933,170 (GRCm39) M555L probably benign Het
Hipk2 T C 6: 38,714,408 (GRCm39) N556S possibly damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Ing3 T C 6: 21,968,949 (GRCm39) S144P probably damaging Het
Itgb1 G A 8: 129,453,549 (GRCm39) probably null Het
Kcnh4 A T 11: 100,640,628 (GRCm39) M466K possibly damaging Het
Krit1 T A 5: 3,880,737 (GRCm39) N565K probably damaging Het
Limk1 A C 5: 134,694,059 (GRCm39) probably null Het
Lrif1 T C 3: 106,639,884 (GRCm39) I323T possibly damaging Het
Macf1 T C 4: 123,328,552 (GRCm39) E1811G probably damaging Het
Mctp2 A C 7: 71,895,207 (GRCm39) probably null Het
Mmp21 A G 7: 133,276,358 (GRCm39) I495T probably benign Het
Mpz A T 1: 170,986,463 (GRCm39) T126S possibly damaging Het
Napsa A G 7: 44,234,768 (GRCm39) Y301C possibly damaging Het
Ncbp1 T A 4: 46,170,474 (GRCm39) probably benign Het
Nup160 A G 2: 90,510,155 (GRCm39) E47G probably benign Het
Or8b56 A G 9: 38,739,424 (GRCm39) I146V probably benign Het
Pcdha11 A G 18: 37,144,502 (GRCm39) K198E probably damaging Het
Pcdha3 A G 18: 37,081,040 (GRCm39) D594G probably damaging Het
Pdcd5 G A 7: 35,346,613 (GRCm39) probably benign Het
Pdhx A T 2: 102,865,685 (GRCm39) S166T probably benign Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Prkch C T 12: 73,744,724 (GRCm39) H246Y probably damaging Het
Ptk2 A T 15: 73,134,413 (GRCm39) L562* probably null Het
Rab3ip C T 10: 116,743,008 (GRCm39) W439* probably null Het
Rasef T A 4: 73,659,208 (GRCm39) R435* probably null Het
Rnf103 C T 6: 71,485,708 (GRCm39) probably benign Het
Rtel1 T C 2: 180,991,765 (GRCm39) F388L probably benign Het
Sds A C 5: 120,621,784 (GRCm39) S309R possibly damaging Het
Sgip1 T A 4: 102,824,847 (GRCm39) D736E possibly damaging Het
Sgms2 A G 3: 131,118,611 (GRCm39) Y291H probably damaging Het
Sgsm3 A G 15: 80,895,661 (GRCm39) probably null Het
Siglec1 T A 2: 130,925,930 (GRCm39) I259F probably damaging Het
Sik2 G A 9: 50,828,382 (GRCm39) P220L probably damaging Het
Slc29a3 A G 10: 60,551,991 (GRCm39) V351A probably benign Het
Slc36a3 A G 11: 55,016,489 (GRCm39) S369P probably benign Het
Srgap1 A T 10: 121,640,919 (GRCm39) M649K probably damaging Het
Thnsl1 A G 2: 21,216,879 (GRCm39) E211G possibly damaging Het
Tmprss9 A G 10: 80,733,207 (GRCm39) probably null Het
Tpgs1 G A 10: 79,511,421 (GRCm39) V188M probably damaging Het
Vmn1r201 G T 13: 22,659,355 (GRCm39) V190F probably damaging Het
Vmn1r64 A T 7: 5,886,622 (GRCm39) L307Q possibly damaging Het
Wbp11 T C 6: 136,791,252 (GRCm39) probably benign Het
Wdr35 A G 12: 9,031,125 (GRCm39) Y134C probably damaging Het
Zan G T 5: 137,412,521 (GRCm39) C3263* probably null Het
Zc3h12c G T 9: 52,037,876 (GRCm39) D301E probably damaging Het
Zfp365 A C 10: 67,745,637 (GRCm39) L47R probably damaging Het
Zmym6 C T 4: 126,998,200 (GRCm39) P412L 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
IGL01116:Grk1 APN 8 13,455,404 (GRCm39) missense possibly damaging 0.52
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGAGATGGGAGCCTTTC -3'
(R):5'- CCCTCTCAGGCTTATGGTAAC -3'

Sequencing Primer
(F):5'- ATGGGAGCCTTTCAAAGCC -3'
(R):5'- TGGTAACACCCATACCGGCTTC -3'
Posted On 2016-11-09