Incidental Mutation 'IGL02442:Grk6'
ID 293485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk6
Ensembl Gene ENSMUSG00000074886
Gene Name G protein-coupled receptor kinase 6
Synonyms Gprk6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02442
Quality Score
Status
Chromosome 13
Chromosomal Location 55592885-55608740 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 55606750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001115] [ENSMUST00000099482] [ENSMUST00000224118] [ENSMUST00000224653] [ENSMUST00000224995] [ENSMUST00000225925]
AlphaFold O70293
Predicted Effect probably benign
Transcript: ENSMUST00000001115
SMART Domains Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
RGS 52 171 1.81e-34 SMART
S_TKc 186 448 8.4e-90 SMART
S_TK_X 449 528 2.8e-8 SMART
low complexity region 572 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099482
SMART Domains Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886

DomainStartEndE-ValueType
low complexity region 14 31 N/A INTRINSIC
RGS 52 171 1.81e-34 SMART
S_TKc 186 448 8.4e-90 SMART
S_TK_X 449 528 2.8e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224532
Predicted Effect probably benign
Transcript: ENSMUST00000224653
Predicted Effect probably benign
Transcript: ENSMUST00000224995
Predicted Effect probably benign
Transcript: ENSMUST00000225925
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 the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Whereas, homozygous mutant mice are viable and show no gross anatomical or behavioral abnormalites under normal physiological conditions, they exhibit locomotor supersensitivity to psychostimulants including cocaine and amphetamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 A G 11: 80,068,032 (GRCm39) E348G probably damaging Het
Ahnak G A 19: 8,981,380 (GRCm39) G888D probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap97d1 T C 11: 101,881,652 (GRCm39) V116A probably benign Het
Csde1 T C 3: 102,962,135 (GRCm39) C649R probably benign Het
Cym A C 3: 107,121,601 (GRCm39) D230E probably damaging Het
Dnah1 A T 14: 31,009,835 (GRCm39) I1911N probably damaging Het
Fat1 A G 8: 45,403,360 (GRCm39) H37R probably benign Het
Ggt6 T C 11: 72,327,632 (GRCm39) V146A possibly damaging Het
Glud1 T A 14: 34,057,395 (GRCm39) L54* probably null Het
Gsta4 G A 9: 78,116,447 (GRCm39) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm39) V620M probably damaging Het
Hspe1 T C 1: 55,128,201 (GRCm39) probably benign Het
Icmt T C 4: 152,383,173 (GRCm39) V76A possibly damaging Het
Ifrd1 A G 12: 40,266,316 (GRCm39) probably benign Het
Lgals12 T C 19: 7,584,019 (GRCm39) probably benign Het
Lypla1 T C 1: 4,902,610 (GRCm39) probably benign Het
Map1b A T 13: 99,644,706 (GRCm39) W66R probably damaging Het
Matn3 T A 12: 9,017,678 (GRCm39) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm39) R191W probably damaging Het
Mycbp2 T C 14: 103,551,811 (GRCm39) K140R probably benign Het
Ndfip1 C T 18: 38,580,789 (GRCm39) S66L probably damaging Het
Neu1 A G 17: 35,153,445 (GRCm39) I323V probably benign Het
Nup205 A T 6: 35,167,003 (GRCm39) T341S probably benign Het
Or4f7 G A 2: 111,644,336 (GRCm39) T245I probably benign Het
Or5b112 T A 19: 13,319,484 (GRCm39) C121S probably benign Het
Or5b3 T A 19: 13,388,351 (GRCm39) N139K probably benign Het
Ovch2 T A 7: 107,395,755 (GRCm39) I88F possibly damaging Het
Pkd1 T A 17: 24,784,200 (GRCm39) S249T probably benign Het
Plekhg3 A T 12: 76,625,127 (GRCm39) Q1324L probably benign Het
Ppara T A 15: 85,685,344 (GRCm39) V431E probably benign Het
Prkaa1 T G 15: 5,206,369 (GRCm39) H408Q probably damaging Het
Sap25 T A 5: 137,640,257 (GRCm39) N108K probably benign Het
Setd5 A C 6: 113,087,341 (GRCm39) I81L possibly damaging Het
Sinhcaf A T 6: 148,830,005 (GRCm39) probably null Het
Sri T A 5: 8,112,411 (GRCm39) M78K probably damaging Het
Tyro3 A G 2: 119,639,349 (GRCm39) N352S probably benign Het
Ubr5 T A 15: 38,038,145 (GRCm39) E332V possibly damaging Het
Vmn2r19 G T 6: 123,286,621 (GRCm39) V85F possibly damaging Het
Vmn2r53 A T 7: 12,315,656 (GRCm39) V721D probably damaging Het
Vwa5a A G 9: 38,646,080 (GRCm39) M483V probably benign Het
Zfp786 T A 6: 47,798,301 (GRCm39) Q212H probably benign Het
Other mutations in Grk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Grk6 APN 13 55,599,204 (GRCm39) missense possibly damaging 0.92
IGL02054:Grk6 APN 13 55,602,210 (GRCm39) missense probably benign 0.03
IGL02156:Grk6 APN 13 55,597,174 (GRCm39) missense possibly damaging 0.86
IGL02750:Grk6 APN 13 55,599,356 (GRCm39) missense probably damaging 1.00
IGL03340:Grk6 APN 13 55,601,003 (GRCm39) missense probably damaging 1.00
Damper UTSW 13 55,606,733 (GRCm39) missense probably damaging 1.00
Piano UTSW 13 55,602,340 (GRCm39) critical splice donor site probably null
R0080:Grk6 UTSW 13 55,606,723 (GRCm39) missense probably benign 0.00
R1077:Grk6 UTSW 13 55,602,340 (GRCm39) critical splice donor site probably null
R1530:Grk6 UTSW 13 55,606,612 (GRCm39) missense probably damaging 0.99
R1531:Grk6 UTSW 13 55,599,967 (GRCm39) missense probably damaging 1.00
R1733:Grk6 UTSW 13 55,600,979 (GRCm39) splice site probably benign
R1851:Grk6 UTSW 13 55,599,591 (GRCm39) nonsense probably null
R1874:Grk6 UTSW 13 55,598,086 (GRCm39) missense probably damaging 1.00
R2142:Grk6 UTSW 13 55,602,177 (GRCm39) missense probably damaging 1.00
R2875:Grk6 UTSW 13 55,600,117 (GRCm39) missense probably damaging 1.00
R5187:Grk6 UTSW 13 55,599,519 (GRCm39) missense probably damaging 1.00
R7010:Grk6 UTSW 13 55,598,113 (GRCm39) missense possibly damaging 0.74
R7104:Grk6 UTSW 13 55,602,219 (GRCm39) missense probably benign 0.36
R7111:Grk6 UTSW 13 55,606,733 (GRCm39) missense probably damaging 1.00
R7769:Grk6 UTSW 13 55,598,820 (GRCm39) missense probably benign 0.01
R7982:Grk6 UTSW 13 55,599,519 (GRCm39) missense probably damaging 1.00
R8401:Grk6 UTSW 13 55,599,981 (GRCm39) missense possibly damaging 0.95
R8468:Grk6 UTSW 13 55,599,198 (GRCm39) missense probably damaging 1.00
R9022:Grk6 UTSW 13 55,606,877 (GRCm39) missense possibly damaging 0.94
R9731:Grk6 UTSW 13 55,607,640 (GRCm39) missense possibly damaging 0.71
Posted On 2015-04-16