Incidental Mutation 'R0080:Grk6'
ID 19649
Institutional Source Beutler Lab
Gene Symbol Grk6
Ensembl Gene ENSMUSG00000074886
Gene Name G protein-coupled receptor kinase 6
Synonyms Gprk6
MMRRC Submission 038367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0080 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55592885-55608740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55606723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 474 (S474P)
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
AA Change: S508P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: S508P

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: S508P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: S508P

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
AA Change: S508P

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: S476P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000224995
AA Change: S503P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225925
AA Change: S474P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 93.1%
  • 20x: 79.7%
Validation Efficiency 88% (175/200)
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
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC 10: 95,630,440 (GRCm39) probably null Het
Adam17 A C 12: 21,379,049 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,497 (GRCm39) probably benign Het
Adgb T C 10: 10,253,583 (GRCm39) probably benign Het
Antkmt T C 17: 26,010,548 (GRCm39) I89V probably benign Het
Ccdc180 A G 4: 45,896,205 (GRCm39) D118G probably null Het
Coro7 A T 16: 4,448,328 (GRCm39) L714Q probably damaging Het
D2hgdh A G 1: 93,754,177 (GRCm39) Y50C probably damaging Het
Dsg1b T G 18: 20,530,424 (GRCm39) S360A probably damaging Het
Ednra T C 8: 78,401,688 (GRCm39) I201V probably benign Het
Ggt6 A G 11: 72,328,021 (GRCm39) T136A possibly damaging Het
Gnb5 A T 9: 75,221,636 (GRCm39) E28V possibly damaging Het
Golgb1 T C 16: 36,718,973 (GRCm39) L293P probably damaging Het
Gpr179 A G 11: 97,242,295 (GRCm39) V183A probably benign Het
Hectd4 A G 5: 121,487,435 (GRCm39) S3477G probably benign Het
Hoatz T C 9: 51,013,102 (GRCm39) T57A probably benign Het
Irx3 T C 8: 92,526,954 (GRCm39) D250G possibly damaging Het
Jsrp1 T G 10: 80,646,349 (GRCm39) M70L probably benign Het
Kcmf1 G T 6: 72,827,470 (GRCm39) probably null Het
Med23 T C 10: 24,788,715 (GRCm39) V1368A probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nos1 G T 5: 118,031,943 (GRCm39) C297F probably damaging Het
Oas1d G A 5: 121,054,955 (GRCm39) A176T possibly damaging Het
Odf2l A T 3: 144,830,084 (GRCm39) I19F possibly damaging Het
Or6c1b T C 10: 129,273,140 (GRCm39) I153T possibly damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Pfkfb2 A T 1: 130,642,279 (GRCm39) S5R probably benign Het
Pign G T 1: 105,480,130 (GRCm39) A848E probably damaging Het
Pomgnt2 A T 9: 121,811,326 (GRCm39) V485E probably damaging Het
Ryr2 T A 13: 11,583,361 (GRCm39) K4764N probably damaging Het
Scgb1b19 A G 7: 32,987,067 (GRCm39) T73A probably damaging Het
Slc35d3 T C 10: 19,724,944 (GRCm39) E304G probably damaging Het
Snta1 A G 2: 154,225,757 (GRCm39) V209A probably benign Het
Spdye4b A T 5: 143,181,430 (GRCm39) D95V probably damaging Het
Srek1 T C 13: 103,880,194 (GRCm39) T455A unknown Het
Tie1 T A 4: 118,341,550 (GRCm39) E254V probably damaging Het
Tigd4 A G 3: 84,501,452 (GRCm39) H123R probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Trim60 C T 8: 65,453,251 (GRCm39) A333T probably damaging Het
Vmn2r82 A T 10: 79,232,339 (GRCm39) R779S probably benign Het
Wdr91 T C 6: 34,883,620 (GRCm39) R132G possibly damaging Het
Zfp445 A G 9: 122,681,421 (GRCm39) V840A probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCACCATGCTGATCTCTCCAAATC -3'
(R):5'- AGGGCAGACACTGCTAGGACTTAC -3'

Sequencing Primer
(F):5'- GCTGATCTCTCCAAATCAGGATG -3'
(R):5'- GACTGAAGAGTCTCTGTAGCAATCC -3'
Posted On 2013-04-11