Incidental Mutation 'IGL02054:Grk6'
ID185167
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 #IGL02054
Quality Score
Status
Chromosome13
Chromosomal Location55445072-55460927 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 55454397 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 346 (A346S)
Ref Sequence ENSEMBL: ENSMUSP00000153668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001115] [ENSMUST00000099482] [ENSMUST00000224118] [ENSMUST00000224653] [ENSMUST00000224995] [ENSMUST00000225925]
Predicted Effect probably benign
Transcript: ENSMUST00000001115
AA Change: A380S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: A380S

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
AA Change: A380S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: A380S

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 benign
Transcript: ENSMUST00000224118
AA Change: A380S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224532
Predicted Effect probably benign
Transcript: ENSMUST00000224653
AA Change: A348S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000224995
AA Change: A375S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225925
AA Change: A346S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,292,123 P1036Q probably damaging Het
Bag4 T C 8: 25,771,225 S163G probably benign Het
Camkk1 G A 11: 73,025,882 R102Q probably damaging Het
Caprin1 A C 2: 103,771,798 probably null Het
Cct8 A T 16: 87,490,476 probably benign Het
Dlgap2 A G 8: 14,843,552 M941V probably damaging Het
Dock7 C T 4: 98,973,409 R1327Q probably damaging Het
Fam160a2 A G 7: 105,384,423 S529P probably damaging Het
Gbp9 T C 5: 105,082,807 D417G probably benign Het
Gemin2 G A 12: 59,021,737 probably null Het
Gtf2h1 A G 7: 46,815,425 probably benign Het
Irak3 T A 10: 120,176,259 Q200L probably benign Het
Irx4 A G 13: 73,268,828 T448A probably damaging Het
Iws1 T C 18: 32,090,542 probably null Het
Kcnk18 G A 19: 59,235,613 probably benign Het
Klk1b11 C A 7: 43,998,827 S86Y possibly damaging Het
Lgals7 T C 7: 28,866,189 F136S probably damaging Het
Luc7l T A 17: 26,279,340 probably benign Het
Mta2 T A 19: 8,950,912 V525E probably benign Het
Mtnr1b G T 9: 15,874,240 A74E possibly damaging Het
Myo1c A G 11: 75,661,136 T354A probably benign Het
Nat1 T C 8: 67,491,422 F153S probably damaging Het
Oasl2 T C 5: 114,897,806 C48R probably damaging Het
Olfr1313 T G 2: 112,071,924 I220L probably benign Het
Pkm C A 9: 59,678,201 R489S probably damaging Het
Pth2r T A 1: 65,336,781 I66N probably damaging Het
Slc25a18 T C 6: 120,792,397 probably null Het
Tnip3 T C 6: 65,590,611 S2P possibly damaging Het
Vmn2r61 T C 7: 42,276,734 probably null Het
Other mutations in Grk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Grk6 APN 13 55451391 missense possibly damaging 0.92
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
IGL03340:Grk6 APN 13 55453190 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
R7982:Grk6 UTSW 13 55451706 missense probably damaging 1.00
R8401:Grk6 UTSW 13 55452168 missense possibly damaging 0.95
R8468:Grk6 UTSW 13 55451385 missense probably damaging 1.00
Posted On2014-05-07