Incidental Mutation 'IGL03340:Grk6'
ID417203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk6
Ensembl Gene ENSMUSG00000074886
Gene NameG protein-coupled receptor kinase 6
SynonymsGprk6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03340
Quality Score
Status
Chromosome13
Chromosomal Location55445072-55460927 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55453190 bp
ZygosityHeterozygous
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]
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: 55,080,001 L26P probably benign Het
Aff1 A T 5: 103,783,804 H104L possibly damaging Het
Apon T C 10: 128,254,978 I175T probably benign Het
C2cd6 A C 1: 59,076,671 F168V probably benign Het
Cgn C T 3: 94,778,095 probably benign Het
Cramp1l G A 17: 24,973,542 P956L probably damaging Het
Cyp2e1 G A 7: 140,764,854 V78M probably damaging Het
Cyp4b1 G A 4: 115,641,879 P97S probably damaging Het
Fads2 G T 19: 10,091,772 P96Q possibly damaging Het
Fam160a2 A G 7: 105,389,310 S241P probably damaging Het
Fcer2a T C 8: 3,688,310 D120G possibly damaging Het
Gm21972 G T 1: 86,133,728 A887S probably damaging Het
Herc2 T A 7: 56,090,920 V270D possibly damaging Het
Kcnk2 T A 1: 189,295,681 I126F possibly damaging Het
Kifap3 T G 1: 163,829,149 V346G possibly damaging Het
Kpna1 T A 16: 36,000,246 N20K probably damaging Het
Krt33b A G 11: 100,025,472 probably benign Het
Krtap9-5 T C 11: 99,948,601 C43R possibly damaging Het
Lars G A 18: 42,228,650 probably benign Het
Lifr T C 15: 7,177,936 W540R probably benign Het
Lrp1b A G 2: 41,468,969 S631P probably damaging Het
Mbd1 G T 18: 74,274,482 R111L probably benign Het
Meltf C T 16: 31,892,784 T576M probably damaging Het
Mmp20 G A 9: 7,643,994 G228S probably damaging Het
Mob4 A G 1: 55,136,708 D37G possibly damaging Het
Msr1 T C 8: 39,620,007 K234E possibly damaging Het
Myof A G 19: 37,911,159 V1764A probably damaging Het
Naaladl1 A G 19: 6,106,199 Y105C possibly damaging Het
Nisch A G 14: 31,173,144 V1065A probably damaging Het
Npas4 A T 19: 4,985,066 probably benign Het
Olfr1232 T C 2: 89,325,695 T162A possibly damaging Het
Pdss2 A G 10: 43,394,001 D280G probably benign Het
Plk3 A G 4: 117,132,928 I182T probably damaging Het
Ppm1k A G 6: 57,510,726 W371R probably damaging Het
Samm50 T C 15: 84,198,663 probably null Het
Scaper G T 9: 55,602,832 T640K possibly damaging Het
Sun3 A C 11: 9,023,285 probably benign Het
Svep1 T A 4: 58,111,451 K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 P745Q probably benign Het
Tomm20l A T 12: 71,117,614 probably benign Het
Usp38 A C 8: 81,012,276 L237V probably damaging Het
Vmn1r210 T C 13: 22,827,474 Y214C probably benign Het
Zan G A 5: 137,427,874 P2547S unknown Het
Other mutations in Grk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Grk6 APN 13 55451391 missense possibly damaging 0.92
IGL02054:Grk6 APN 13 55454397 missense probably benign 0.03
IGL02156:Grk6 APN 13 55449361 missense possibly damaging 0.86
IGL02442:Grk6 APN 13 55458937 splice site probably benign
IGL02750:Grk6 APN 13 55451543 missense probably damaging 1.00
Damper UTSW 13 55458920 missense probably damaging 1.00
Piano UTSW 13 55454527 critical splice donor site probably null
R0080:Grk6 UTSW 13 55458910 missense probably benign 0.00
R1077:Grk6 UTSW 13 55454527 critical splice donor site probably null
R1530:Grk6 UTSW 13 55458799 missense probably damaging 0.99
R1531:Grk6 UTSW 13 55452154 missense probably damaging 1.00
R1733:Grk6 UTSW 13 55453166 splice site probably benign
R1851:Grk6 UTSW 13 55451778 nonsense probably null
R1874:Grk6 UTSW 13 55450273 missense probably damaging 1.00
R2142:Grk6 UTSW 13 55454364 missense probably damaging 1.00
R2875:Grk6 UTSW 13 55452304 missense probably damaging 1.00
R5187:Grk6 UTSW 13 55451706 missense probably damaging 1.00
R7010:Grk6 UTSW 13 55450300 missense possibly damaging 0.74
R7104:Grk6 UTSW 13 55454406 missense probably benign 0.36
R7111:Grk6 UTSW 13 55458920 missense probably damaging 1.00
R7769:Grk6 UTSW 13 55451007 missense probably benign 0.01
Posted On2016-08-02