Incidental Mutation 'R2875:Grk6'
ID 260521
Institutional Source Beutler Lab
Gene Symbol Grk6
Ensembl Gene ENSMUSG00000074886
Gene Name G protein-coupled receptor kinase 6
Synonyms Gprk6
MMRRC Submission 040463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2875 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55592885-55608740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55600117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 271 (H271R)
Ref Sequence ENSEMBL: ENSMUSP00000153623 (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: H303R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: H303R

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: H303R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: H303R

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: H303R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000224653
AA Change: H271R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000224995
AA Change: H298R

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably damaging
Transcript: ENSMUST00000225925
AA Change: H269R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (1/1)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,080,177 (GRCm39) K16* probably null Het
Adgb T G 10: 10,298,463 (GRCm39) T422P probably damaging Het
Adrm1 A G 2: 179,817,411 (GRCm39) T293A probably damaging Het
Baz1a A T 12: 54,969,904 (GRCm39) D585E probably damaging Het
Ccdc152 T C 15: 3,327,663 (GRCm39) N38S probably damaging Het
Cenpf A G 1: 189,390,841 (GRCm39) M997T probably benign Het
Dnah12 A G 14: 26,414,625 (GRCm39) I9V probably benign Het
Dnah12 A G 14: 26,598,907 (GRCm39) N995S probably benign Het
Dnah9 C A 11: 66,059,287 (GRCm39) G3C possibly damaging Het
Dock2 A G 11: 34,609,712 (GRCm39) S243P probably damaging Het
Eif2ak3 T C 6: 70,860,623 (GRCm39) S400P probably damaging Het
Eno1b A G 18: 48,180,851 (GRCm39) K343R possibly damaging Het
H2-Ab1 A C 17: 34,482,286 (GRCm39) M1L probably benign Het
Irf8 C A 8: 121,481,202 (GRCm39) P262Q probably damaging Het
Kcnc3 G T 7: 44,240,961 (GRCm39) G218* probably null Het
Krt9 C A 11: 100,080,031 (GRCm39) G454* probably null Het
Mgrn1 C T 16: 4,725,280 (GRCm39) T47I possibly damaging Het
Ndst1 A T 18: 60,823,119 (GRCm39) F816I probably damaging Het
Or11g26 T A 14: 50,753,269 (GRCm39) W203R probably benign Het
Or5h25 A T 16: 58,930,165 (GRCm39) D269E probably benign Het
Phf12 C A 11: 77,900,573 (GRCm39) T223N probably damaging Het
Rad1 T C 15: 10,490,417 (GRCm39) V128A probably benign Het
Rad54l C T 4: 115,959,050 (GRCm39) R382Q probably benign Het
Rhbdd1 A G 1: 82,346,090 (GRCm39) D215G probably benign Het
Sdc4 T C 2: 164,273,211 (GRCm39) D33G possibly damaging Het
Smarca4 A T 9: 21,553,876 (GRCm39) K387N possibly damaging Het
St3gal5 A G 6: 72,124,114 (GRCm39) M214V possibly damaging Het
Stk25 T C 1: 93,556,973 (GRCm39) D15G possibly damaging Het
Timm21 T C 18: 84,969,217 (GRCm39) D69G probably benign Het
Ttll4 A G 1: 74,725,597 (GRCm39) probably null Het
Ttn T A 2: 76,589,438 (GRCm39) N21272I probably damaging Het
Uchl3 A G 14: 101,905,996 (GRCm39) H153R probably benign Het
Zbed6 C T 1: 133,584,598 (GRCm39) C913Y probably damaging Het
Zcwpw1 T C 5: 137,808,304 (GRCm39) S251P probably damaging Het
Zeb1 GGA GGAAGA 18: 5,772,859 (GRCm39) probably benign Het
Zscan29 T C 2: 120,994,581 (GRCm39) Y468C 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
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
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'- GTGAGCTTAGCCTACGCCTATG -3'
(R):5'- AAACCTAGGTCTGAAGCGC -3'

Sequencing Primer
(F):5'- GCTTAGCCTACGCCTATGAGACC -3'
(R):5'- GGTCTGAAGCGCTCAAATCTATCG -3'
Posted On 2015-01-23