Incidental Mutation 'IGL03183:Grk5'
ID412320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk5
Ensembl Gene ENSMUSG00000003228
Gene NameG protein-coupled receptor kinase 5
SynonymsGprk5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03183
Quality Score
Status
Chromosome19
Chromosomal Location60889749-61092553 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61069336 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 158 (F158S)
Ref Sequence ENSEMBL: ENSMUSP00000003313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003313] [ENSMUST00000122927]
Predicted Effect probably damaging
Transcript: ENSMUST00000003313
AA Change: F158S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003313
Gene: ENSMUSG00000003228
AA Change: F158S

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
RGS 52 171 1.21e-35 SMART
S_TKc 186 448 9.44e-84 SMART
S_TK_X 449 528 1.08e-9 SMART
low complexity region 561 590 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122927
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. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in a decrease in thermal pain sensation. Mice homozygous for a knock-out allele exhibit decreased response of heart to induced stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh6a1 A G 12: 84,436,440 probably null Het
Ano2 A T 6: 125,710,629 K32N probably benign Het
Asic1 A G 15: 99,672,017 H73R probably benign Het
B3glct A G 5: 149,754,142 D412G probably damaging Het
Baz2b T C 2: 59,903,296 I1891V probably benign Het
Cc2d2a A G 5: 43,732,379 E1278G probably damaging Het
Ccdc116 T C 16: 17,142,854 E33G probably benign Het
Celf4 T A 18: 25,537,739 Q129L probably benign Het
Celf4 G T 18: 25,537,740 Q129K probably benign Het
Col18a1 A G 10: 77,073,754 S817P probably damaging Het
Corin A G 5: 72,301,586 V940A probably damaging Het
Dlgap2 A T 8: 14,727,525 N257Y possibly damaging Het
Dnah2 C A 11: 69,458,488 V2441L possibly damaging Het
Evpl C T 11: 116,221,612 E1751K probably damaging Het
Fam35a T C 14: 34,245,186 T690A probably benign Het
Fat1 G A 8: 44,950,586 E125K probably damaging Het
Fras1 A T 5: 96,733,781 probably benign Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
G3bp2 A C 5: 92,055,046 M362R possibly damaging Het
Hmbox1 G T 14: 64,887,599 Q188K probably damaging Het
Ift172 A T 5: 31,272,004 D604E probably benign Het
Igkv6-32 T A 6: 70,074,572 T5S probably benign Het
Impa1 A G 3: 10,322,994 Y123H probably damaging Het
Itgb4 C T 11: 115,988,724 T612M probably damaging Het
Med12l T A 3: 59,037,555 probably null Het
Meis2 A G 2: 116,059,521 L160S probably damaging Het
Micu1 C T 10: 59,728,048 R31* probably null Het
Nlrp9a G T 7: 26,557,457 A167S probably damaging Het
Olfr1408 A G 1: 173,130,858 Y120H probably damaging Het
Olfr1425 A T 19: 12,074,028 N201K probably damaging Het
Plpp6 A G 19: 28,964,671 N224S possibly damaging Het
Sdk2 T A 11: 113,850,984 H803L probably benign Het
Slc36a1 T A 11: 55,228,191 Y331N probably damaging Het
Spata31d1c A T 13: 65,035,195 I184F possibly damaging Het
Stat3 T C 11: 100,902,756 I338V possibly damaging Het
Stk10 T A 11: 32,604,143 V610E possibly damaging Het
Syna A G 5: 134,558,290 S602P probably benign Het
Tap2 T A 17: 34,205,425 probably benign Het
Tln1 T C 4: 43,539,084 probably benign Het
Tra2b C A 16: 22,254,553 probably benign Het
Ttc7b T C 12: 100,373,709 probably null Het
Vmn2r121 G A X: 124,132,326 T378I probably benign Het
Wdr1 A T 5: 38,533,482 probably null Het
Wdr66 A G 5: 123,254,619 probably benign Het
Other mutations in Grk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Grk5 APN 19 61069371 missense probably damaging 0.99
R0257:Grk5 UTSW 19 61076630 intron probably benign
R1565:Grk5 UTSW 19 61089972 missense probably damaging 0.99
R1603:Grk5 UTSW 19 61069362 missense probably benign 0.06
R1672:Grk5 UTSW 19 61086215 splice site probably null
R1687:Grk5 UTSW 19 61076783 missense probably damaging 1.00
R1793:Grk5 UTSW 19 61076762 missense probably damaging 1.00
R1822:Grk5 UTSW 19 61089972 missense probably damaging 0.99
R1824:Grk5 UTSW 19 61089972 missense probably damaging 0.99
R1876:Grk5 UTSW 19 61083225 missense probably damaging 1.00
R4320:Grk5 UTSW 19 61091945 nonsense probably null
R4828:Grk5 UTSW 19 60987775 nonsense probably null
R5085:Grk5 UTSW 19 61076684 missense probably damaging 1.00
R6237:Grk5 UTSW 19 61089942 missense probably damaging 1.00
R6310:Grk5 UTSW 19 61080911 missense probably damaging 0.96
R6736:Grk5 UTSW 19 60890626 missense probably damaging 0.99
R7061:Grk5 UTSW 19 61046092 missense probably benign 0.00
R7248:Grk5 UTSW 19 60890607 missense probably benign 0.05
R7583:Grk5 UTSW 19 61083204 missense possibly damaging 0.85
R7852:Grk5 UTSW 19 61080945 critical splice donor site probably null
R7935:Grk5 UTSW 19 61080945 critical splice donor site probably null
Posted On2016-08-02