Incidental Mutation 'IGL03340:Grk6'
ID 417203
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 # IGL03340
Quality Score
Status
Chromosome 13
Chromosomal Location 55592885-55608740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55601003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 295 (D295G)
Ref Sequence ENSEMBL: ENSMUSP00000153668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001115] [ENSMUST00000099482] [ENSMUST00000224118] [ENSMUST00000224653] [ENSMUST00000224995] [ENSMUST00000225925]
AlphaFold O70293
Predicted Effect probably damaging
Transcript: ENSMUST00000001115
AA Change: D329G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: D329G

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 damaging
Transcript: ENSMUST00000099482
AA Change: D329G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: D329G

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 noncoding transcript
Transcript: ENSMUST00000185186
Predicted Effect probably damaging
Transcript: ENSMUST00000224118
AA Change: D329G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224653
AA Change: D297G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224995
AA Change: D324G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225925
AA Change: D295G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,126,786 (GRCm39) L26P probably benign Het
Aff1 A T 5: 103,931,670 (GRCm39) H104L possibly damaging Het
Apon T C 10: 128,090,847 (GRCm39) I175T probably benign Het
C2cd6 A C 1: 59,115,830 (GRCm39) F168V probably benign Het
Cgn C T 3: 94,685,405 (GRCm39) probably benign Het
Cramp1 G A 17: 25,192,516 (GRCm39) P956L probably damaging Het
Cyp2e1 G A 7: 140,344,767 (GRCm39) V78M probably damaging Het
Cyp4b1 G A 4: 115,499,076 (GRCm39) P97S probably damaging Het
Fads2 G T 19: 10,069,136 (GRCm39) P96Q possibly damaging Het
Fcer2a T C 8: 3,738,310 (GRCm39) D120G possibly damaging Het
Fhip1b A G 7: 105,038,517 (GRCm39) S241P probably damaging Het
Gm21972 G T 1: 86,061,450 (GRCm39) A887S probably damaging Het
Herc2 T A 7: 55,740,668 (GRCm39) V270D possibly damaging Het
Kcnk2 T A 1: 189,027,878 (GRCm39) I126F possibly damaging Het
Kifap3 T G 1: 163,656,718 (GRCm39) V346G possibly damaging Het
Kpna1 T A 16: 35,820,616 (GRCm39) N20K probably damaging Het
Krt33b A G 11: 99,916,298 (GRCm39) probably benign Het
Krtap9-5 T C 11: 99,839,427 (GRCm39) C43R possibly damaging Het
Lars1 G A 18: 42,361,715 (GRCm39) probably benign Het
Lifr T C 15: 7,207,417 (GRCm39) W540R probably benign Het
Lrp1b A G 2: 41,358,981 (GRCm39) S631P probably damaging Het
Mbd1 G T 18: 74,407,553 (GRCm39) R111L probably benign Het
Meltf C T 16: 31,711,602 (GRCm39) T576M probably damaging Het
Mmp20 G A 9: 7,643,995 (GRCm39) G228S probably damaging Het
Mob4 A G 1: 55,175,867 (GRCm39) D37G possibly damaging Het
Msr1 T C 8: 40,073,048 (GRCm39) K234E possibly damaging Het
Myof A G 19: 37,899,607 (GRCm39) V1764A probably damaging Het
Naaladl1 A G 19: 6,156,229 (GRCm39) Y105C possibly damaging Het
Nisch A G 14: 30,895,101 (GRCm39) V1065A probably damaging Het
Npas4 A T 19: 5,035,094 (GRCm39) probably benign Het
Or4c124 T C 2: 89,156,039 (GRCm39) T162A possibly damaging Het
Pdss2 A G 10: 43,269,997 (GRCm39) D280G probably benign Het
Plk3 A G 4: 116,990,125 (GRCm39) I182T probably damaging Het
Ppm1k A G 6: 57,487,711 (GRCm39) W371R probably damaging Het
Samm50 T C 15: 84,082,864 (GRCm39) probably null Het
Scaper G T 9: 55,510,116 (GRCm39) T640K possibly damaging Het
Sun3 A C 11: 8,973,285 (GRCm39) probably benign Het
Svep1 T A 4: 58,111,451 (GRCm39) K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 (GRCm39) P745Q probably benign Het
Tomm20l A T 12: 71,164,388 (GRCm39) probably benign Het
Usp38 A C 8: 81,738,905 (GRCm39) L237V probably damaging Het
Vmn1r210 T C 13: 23,011,644 (GRCm39) Y214C probably benign Het
Zan G A 5: 137,426,136 (GRCm39) P2547S unknown 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
IGL02442:Grk6 APN 13 55,606,750 (GRCm39) splice site probably benign
IGL02750:Grk6 APN 13 55,599,356 (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 2016-08-02