Incidental Mutation 'R1077:Grk6'
ID 85702
Institutional Source Beutler Lab
Gene Symbol Grk6
Ensembl Gene ENSMUSG00000074886
Gene Name G protein-coupled receptor kinase 6
Synonyms Gprk6
MMRRC Submission 039163-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1077 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55592885-55608740 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 55602340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001115] [ENSMUST00000099482] [ENSMUST00000224118] [ENSMUST00000224653] [ENSMUST00000224995] [ENSMUST00000225925]
AlphaFold O70293
Predicted Effect probably null
Transcript: ENSMUST00000001115
SMART Domains Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886

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 null
Transcript: ENSMUST00000099482
SMART Domains Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886

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 null
Transcript: ENSMUST00000224118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224532
Predicted Effect probably null
Transcript: ENSMUST00000224653
Predicted Effect probably null
Transcript: ENSMUST00000224995
Predicted Effect probably null
Transcript: ENSMUST00000225925
Meta Mutation Damage Score 0.9480 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (40/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,130,770 (GRCm39) noncoding transcript Het
Apob A G 12: 8,056,017 (GRCm39) K1500E probably benign Het
Atp8b1 A T 18: 64,706,333 (GRCm39) Y225* probably null Het
Cdc25c A T 18: 34,882,026 (GRCm39) probably benign Het
Ceacam15 T C 7: 16,406,000 (GRCm39) N184D probably benign Het
Cntln T C 4: 84,914,716 (GRCm39) S508P probably damaging Het
Defa41 T A 8: 21,692,449 (GRCm39) F90Y probably benign Het
Dhx34 A G 7: 15,952,293 (GRCm39) S111P probably damaging Het
Dst A G 1: 34,203,248 (GRCm39) E759G probably damaging Het
Fis1 G A 5: 136,994,000 (GRCm39) A28T probably damaging Het
Fsd1 T C 17: 56,297,542 (GRCm39) probably null Het
Il23r A T 6: 67,450,794 (GRCm39) H228Q probably benign Het
Kcnh4 C T 11: 100,643,164 (GRCm39) V368I possibly damaging Het
Kdr T C 5: 76,116,891 (GRCm39) E728G probably damaging Het
Krt33a T A 11: 99,906,763 (GRCm39) M71L probably benign Het
Lrrc7 T G 3: 157,866,780 (GRCm39) D987A probably damaging Het
Naalad2 C T 9: 18,258,802 (GRCm39) R491Q probably damaging Het
Nedd4l A T 18: 65,300,570 (GRCm39) probably benign Het
Pramel7 A G 2: 87,321,534 (GRCm39) L167S probably damaging Het
Prkci A G 3: 31,104,341 (GRCm39) D568G probably damaging Het
Psg18 G A 7: 18,085,000 (GRCm39) T32I possibly damaging Het
Ric8b T A 10: 84,806,581 (GRCm39) probably benign Het
Rnf213 T C 11: 119,376,824 (GRCm39) probably benign Het
Rttn T C 18: 89,082,373 (GRCm39) V1433A probably damaging Het
Sbf2 A T 7: 109,966,379 (GRCm39) probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sfta2 T C 17: 35,961,019 (GRCm39) probably benign Het
Slc17a1 T A 13: 24,062,433 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,626 (GRCm39) C314Y probably benign Het
Smpd4 T C 16: 17,441,833 (GRCm39) V35A probably damaging Het
Sorl1 T C 9: 41,925,786 (GRCm39) D1182G probably damaging Het
Syne2 A G 12: 76,088,809 (GRCm39) I5056V possibly damaging Het
Tex14 T C 11: 87,410,571 (GRCm39) probably benign Het
Tex44 A G 1: 86,354,777 (GRCm39) T229A probably benign Het
Tfap2b T A 1: 19,304,373 (GRCm39) C394* probably null Het
Ttk T A 9: 83,726,202 (GRCm39) probably benign Het
Vmn2r26 G A 6: 124,030,872 (GRCm39) V536I probably benign Het
Wac A G 18: 7,921,916 (GRCm39) T553A probably damaging Het
Wdcp T A 12: 4,900,685 (GRCm39) H180Q probably damaging Het
Wdr33 A G 18: 31,968,514 (GRCm39) H235R probably benign 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
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'- TACACGTTCAGTCCTGACTGGTGG -3'
(R):5'- TGAAAGTGACTTGGCCCTTGCTC -3'

Sequencing Primer
(F):5'- GACTGGTGGGCGCTAGG -3'
(R):5'- TACATCAGGCTTAAAAGGTGGCTC -3'
Posted On 2013-11-18