Incidental Mutation 'R6717:Grk1'
ID 529437
Institutional Source Beutler Lab
Gene Symbol Grk1
Ensembl Gene ENSMUSG00000031450
Gene Name G protein-coupled receptor kinase 1
Synonyms Rhok, RK
MMRRC Submission 044835-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6717 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 13455081-13471951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13466237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 560 (M560I)
Ref Sequence ENSEMBL: ENSMUSP00000147484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033827] [ENSMUST00000209909]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033827
AA Change: M560I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: M560I

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: M560I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211027
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (47/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C T 5: 4,114,086 (GRCm39) L3122F probably damaging Het
Atp6v1b1 A T 6: 83,730,632 (GRCm39) probably null Het
Ccdc178 A T 18: 22,153,946 (GRCm39) V621E probably damaging Het
Cfap126 T C 1: 170,941,671 (GRCm39) probably null Het
Cog2 T C 8: 125,252,488 (GRCm39) I64T probably damaging Het
Dhx9 A C 1: 153,349,210 (GRCm39) probably null Het
Efcab7 A G 4: 99,761,931 (GRCm39) D407G possibly damaging Het
Eif2b5 G T 16: 20,324,033 (GRCm39) G459C probably damaging Het
Eml5 T C 12: 98,793,765 (GRCm39) E1168G probably damaging Het
Flnc AGCTGTCAAGTATGCTG AGCTG 6: 29,450,901 (GRCm39) probably benign Het
Fry A G 5: 150,419,777 (GRCm39) T980A probably benign Het
Gabbr2 A G 4: 46,787,574 (GRCm39) V363A possibly damaging Het
Ggt6 T A 11: 72,328,346 (GRCm39) L244* probably null Het
Gprc6a T A 10: 51,491,233 (GRCm39) I768F probably damaging Het
Hapln4 G A 8: 70,537,740 (GRCm39) E145K probably damaging Het
Hoxd9 C T 2: 74,528,733 (GRCm39) P112S probably benign Het
Ly6g6f T A 17: 35,304,550 (GRCm39) M1L probably benign Het
Mast1 T C 8: 85,644,383 (GRCm39) T849A probably benign Het
Mob4 A T 1: 55,175,872 (GRCm39) M39L possibly damaging Het
Mrgpre A T 7: 143,335,260 (GRCm39) L81Q probably damaging Het
Mst1 T C 9: 107,957,774 (GRCm39) probably null Het
Muc5b A T 7: 141,411,559 (GRCm39) R1502* probably null Het
Or4b13 T A 2: 90,082,868 (GRCm39) I155L probably benign Het
Or5ap2 T A 2: 85,680,567 (GRCm39) I257N probably damaging Het
Or9e1 T C 11: 58,732,113 (GRCm39) Y58H probably damaging Het
Pdc A G 1: 150,208,769 (GRCm39) D84G probably damaging Het
Peak1 T C 9: 56,114,523 (GRCm39) N443D probably benign Het
Pkd1l3 T A 8: 110,341,401 (GRCm39) W85R unknown Het
Pramel31 G T 4: 144,089,227 (GRCm39) V182L probably benign Het
Rfc1 G A 5: 65,459,347 (GRCm39) Q190* probably null Het
Rfc1 A G 5: 65,470,304 (GRCm39) S68P probably damaging Het
Rnf145 T C 11: 44,452,317 (GRCm39) V432A probably benign Het
Ror2 A G 13: 53,273,018 (GRCm39) S204P probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Slc2a8 A C 2: 32,866,189 (GRCm39) M277R probably damaging Het
Slc4a1 T C 11: 102,245,249 (GRCm39) Y566C probably damaging Het
Slc6a12 A G 6: 121,331,262 (GRCm39) N185S probably benign Het
Srcap GCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCT 7: 127,157,482 (GRCm39) probably benign Het
Stk33 T A 7: 108,926,823 (GRCm39) T279S possibly damaging Het
Taok3 A G 5: 117,379,015 (GRCm39) probably benign Het
Tlr11 A G 14: 50,599,561 (GRCm39) T516A probably benign Het
Tmem132c T A 5: 127,641,093 (GRCm39) L1088Q possibly damaging Het
Tmem132d T A 5: 127,861,485 (GRCm39) M879L probably benign Het
Tnk2 A G 16: 32,489,687 (GRCm39) E322G probably damaging Het
Ttc28 T C 5: 111,433,302 (GRCm39) V2081A probably benign Het
Ttn C T 2: 76,624,753 (GRCm39) probably null Het
Zfp105 T C 9: 122,759,373 (GRCm39) V348A possibly damaging Het
Zswim2 T C 2: 83,745,753 (GRCm39) R562G probably benign 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
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
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

Sequencing Primer
Posted On 2018-08-01