Incidental Mutation 'IGL02156:Grk6'
ID282235
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 #IGL02156
Quality Score
Status
Chromosome13
Chromosomal Location55445072-55460927 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55449361 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 36 (F36L)
Ref Sequence ENSEMBL: ENSMUSP00000153344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001115] [ENSMUST00000099482] [ENSMUST00000224118] [ENSMUST00000224653] [ENSMUST00000224995] [ENSMUST00000225925]
Predicted Effect probably benign
Transcript: ENSMUST00000001115
AA Change: F36L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001115
Gene: ENSMUSG00000074886
AA Change: F36L

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: F36L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097081
Gene: ENSMUSG00000074886
AA Change: F36L

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: F36L

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000224653
AA Change: F4L

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224995
AA Change: F36L

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000225925
AA Change: F36L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,871,307 noncoding transcript Het
Adam33 G A 2: 131,053,158 probably benign Het
Akr7a5 C A 4: 139,314,269 A163D probably damaging Het
Arap1 T C 7: 101,388,730 probably benign Het
Arhgap8 A G 15: 84,770,035 I306V possibly damaging Het
Asf1a C T 10: 53,606,143 A17V probably benign Het
Atp1a4 A T 1: 172,257,962 S25T probably benign Het
BC030867 C T 11: 102,255,039 S47F probably damaging Het
Cbln4 T C 2: 172,042,208 I31V probably benign Het
Ccdc93 T G 1: 121,448,276 L172R possibly damaging Het
Ceacam9 T C 7: 16,723,619 probably benign Het
Crhr1 C A 11: 104,163,883 N107K probably benign Het
Cyp11b1 T A 15: 74,835,797 M488L probably benign Het
Dnah7a A G 1: 53,419,723 V3752A probably benign Het
Dnhd1 G A 7: 105,721,744 V4744M probably damaging Het
Dstyk C A 1: 132,449,926 N423K probably benign Het
Exph5 T C 9: 53,375,641 S1341P probably damaging Het
Fam161b T C 12: 84,354,753 H409R probably benign Het
Fbxo21 A G 5: 117,994,668 probably benign Het
Flt1 A G 5: 147,681,741 I230T probably damaging Het
Gm9931 T C 1: 147,281,628 noncoding transcript Het
Grm1 G T 10: 10,719,976 A636D probably damaging Het
Hectd1 A T 12: 51,754,133 probably benign Het
Hltf G A 3: 20,092,807 V577I possibly damaging Het
Lrrc8c A G 5: 105,607,493 D378G probably damaging Het
Mcoln1 C A 8: 3,512,657 S6* probably null Het
Meis1 A T 11: 19,011,292 S194T probably benign Het
Myo1h A C 5: 114,353,911 probably benign Het
Nop9 T A 14: 55,753,283 C557* probably null Het
Nrap T C 19: 56,321,000 D1619G probably damaging Het
Olfr1314 A T 2: 112,092,016 H228Q probably benign Het
Olfr854 A G 9: 19,567,198 M59T probably damaging Het
Olfr934 T A 9: 38,982,546 Y166F possibly damaging Het
Pard3b T A 1: 61,767,950 D41E possibly damaging Het
Parp14 G T 16: 35,858,597 Q334K probably benign Het
Phf3 A T 1: 30,808,778 I1228K probably damaging Het
Polr1b T A 2: 129,123,879 F814I probably benign Het
Rsph1 T G 17: 31,258,116 S282R probably benign Het
Son T C 16: 91,656,104 S580P possibly damaging Het
Sptbn5 G T 2: 120,047,617 probably benign Het
Ssr2 T A 3: 88,583,788 probably null Het
Tfpt A G 7: 3,629,040 S24P probably damaging Het
Tg A G 15: 66,705,348 T1507A probably benign Het
Trpm7 A G 2: 126,799,243 probably benign Het
Wwox G A 8: 114,448,159 probably null Het
Ythdf2 C T 4: 132,204,508 R447H possibly damaging Het
Zfp385c A G 11: 100,629,019 F368S probably damaging Het
Zfp488 A G 14: 33,970,400 S269P possibly damaging Het
Zhx1 A C 15: 58,054,049 V267G possibly damaging 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
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 On2015-04-16