Incidental Mutation 'R1565:Grk5'
ID175237
Institutional Source Beutler Lab
Gene Symbol Grk5
Ensembl Gene ENSMUSG00000003228
Gene NameG protein-coupled receptor kinase 5
SynonymsGprk5
MMRRC Submission 039604-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1565 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location60889749-61092553 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61089972 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 489 (V489A)
Ref Sequence ENSEMBL: ENSMUSP00000003313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003313] [ENSMUST00000122927]
Predicted Effect probably damaging
Transcript: ENSMUST00000003313
AA Change: V489A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003313
Gene: ENSMUSG00000003228
AA Change: V489A

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
Meta Mutation Damage Score 0.2836 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,501 G270S probably benign Het
Abtb1 T C 6: 88,836,554 T401A probably benign Het
Adamts14 A T 10: 61,270,897 M148K probably damaging Het
Adcy5 A G 16: 35,268,957 E508G probably damaging Het
Ankfy1 T A 11: 72,757,318 L875H probably damaging Het
Cacng3 A T 7: 122,768,401 D168V probably damaging Het
Clpb G A 7: 101,785,461 R488Q probably benign Het
Cpxm2 A T 7: 132,062,145 Y350N probably damaging Het
D130040H23Rik T A 8: 69,303,160 *406R probably null Het
Dnah10 T A 5: 124,829,614 D4236E probably damaging Het
Dpf3 T A 12: 83,370,617 Y27F probably damaging Het
Esp4 T C 17: 40,602,595 *118Q probably null Het
Fam222b T C 11: 78,154,662 S222P possibly damaging Het
Flnc T C 6: 29,455,171 V1933A probably damaging Het
Gem T C 4: 11,713,709 F282L possibly damaging Het
Gli2 T C 1: 118,841,930 T631A possibly damaging Het
Gm13088 G A 4: 143,655,617 Q170* probably null Het
Gpld1 T A 13: 24,956,068 V116E probably damaging Het
Gpr176 A G 2: 118,280,214 M188T probably benign Het
H2-Ke6 C T 17: 34,027,495 V105I possibly damaging Het
Hpdl T C 4: 116,820,883 N127S probably damaging Het
Id4 G T 13: 48,262,294 V151L possibly damaging Het
Kcnh8 G T 17: 52,956,881 G802V probably benign Het
Lamc1 C A 1: 153,242,743 S894I probably benign Het
Larp1b A G 3: 40,972,384 N184S probably damaging Het
Lhx1 A T 11: 84,519,821 S226T probably benign Het
Lmo7 A T 14: 101,887,521 Q472L probably damaging Het
Mog G C 17: 37,017,582 N152K possibly damaging Het
Mttp A G 3: 138,116,405 probably null Het
Mycbp2 A G 14: 103,252,509 V953A possibly damaging Het
Myo3a A T 2: 22,340,280 Y509F probably damaging Het
Myo9b A G 8: 71,315,192 N303S possibly damaging Het
Nek3 T C 8: 22,132,201 probably null Het
Nlrc4 A T 17: 74,441,931 D771E probably benign Het
Nup160 A T 2: 90,722,061 N1127I possibly damaging Het
Oas1h A T 5: 120,862,600 N91I probably damaging Het
Olfr1225 A T 2: 89,170,627 V195D probably benign Het
Olfr1226 G T 2: 89,193,883 S50R probably damaging Het
Olfr1342 T A 4: 118,690,192 N87Y probably damaging Het
Parp4 T C 14: 56,589,872 probably benign Het
Pi4ka G A 16: 17,281,900 C96Y probably null Het
Pira2 A T 7: 3,844,549 F47Y probably damaging Het
Pkhd1 C A 1: 20,347,457 G2490V probably damaging Het
Plekhg1 C T 10: 3,940,526 T394I probably damaging Het
Psmd1 T C 1: 86,091,997 probably benign Het
Rab3ip A T 10: 116,939,223 C77S probably benign Het
Reln A T 5: 21,925,213 M2700K probably benign Het
Rfx1 A G 8: 84,073,946 T59A probably benign Het
Ric8b G T 10: 84,980,099 V405L probably benign Het
Rufy3 G T 5: 88,640,632 A479S probably damaging Het
Sardh A T 2: 27,242,719 Y166N probably damaging Het
Slamf6 T G 1: 171,934,408 V132G possibly damaging Het
Slc12a3 T G 8: 94,345,877 H674Q possibly damaging Het
Sned1 G A 1: 93,281,654 V830M possibly damaging Het
Srsf9 A G 5: 115,327,370 N21S possibly damaging Het
Stkld1 A T 2: 26,950,090 T391S probably benign Het
Sumf2 C A 5: 129,859,914 N230K probably damaging Het
Tbc1d22a T C 15: 86,235,569 V22A possibly damaging Het
Thsd7b T A 1: 129,596,041 S194T possibly damaging Het
Tmem27 A G X: 164,118,234 D184G possibly damaging Het
Tnn T A 1: 160,097,265 Y1173F probably damaging Het
Top2a A G 11: 99,001,054 F1122L probably damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trim39 G A 17: 36,268,854 R70W probably damaging Het
Ttn G A 2: 76,794,261 T15289I probably damaging Het
Ugt2b38 A T 5: 87,411,914 V373E probably damaging Het
Usp54 A G 14: 20,607,159 S24P probably damaging Het
Vmn2r27 C T 6: 124,231,634 G51S probably benign Het
Xylt2 C T 11: 94,667,594 A579T probably benign Het
Zbtb21 A G 16: 97,952,427 S247P probably benign Het
Zc3h7b C T 15: 81,777,088 P376L probably benign Het
Zfp251 T A 15: 76,853,038 R613S probably damaging Het
Zfp251 C T 15: 76,853,039 R613K possibly damaging Het
Zfp91 T C 19: 12,779,075 D135G probably benign Het
Other mutations in Grk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Grk5 APN 19 61069371 missense probably damaging 0.99
IGL03183:Grk5 APN 19 61069336 missense probably damaging 0.99
R0257:Grk5 UTSW 19 61076630 intron probably benign
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
Predicted Primers PCR Primer
(F):5'- CACTAGAACCTGGTCCCTTTTGCG -3'
(R):5'- AATCTCTGCTACCCTACCCAGTGAC -3'

Sequencing Primer
(F):5'- TCAGTCTGAGGACCCAAGTG -3'
(R):5'- ACCCAGTGACCTTCTATGCAC -3'
Posted On2014-04-24