Incidental Mutation 'IGL00509:Grk4'
ID6448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk4
Ensembl Gene ENSMUSG00000052783
Gene NameG protein-coupled receptor kinase 4
SynonymsGprk2l, A830025H08Rik
Accession Numbers

Genbank: NM_019497.2, NM_001080743.1

Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL00509
Quality Score
Status
Chromosome5
Chromosomal Location34660379-34755305 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34716290 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 233 (N233K)
Ref Sequence ENSEMBL: ENSMUSP00000001112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001112]
Predicted Effect probably damaging
Transcript: ENSMUST00000001112
AA Change: N233K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783
AA Change: N233K

DomainStartEndE-ValueType
RGS 51 171 1.61e-31 SMART
S_TKc 186 448 7.78e-85 SMART
S_TK_X 449 528 2.98e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153323
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 its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice heterozygous for a knock-out allele are viable, fertile and overtly normal. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(2)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,243,243 probably null Het
Abr A G 11: 76,423,089 L514P probably damaging Het
Ahnak T A 19: 9,009,951 D2866E possibly damaging Het
Bfsp1 T A 2: 143,831,892 T293S probably damaging Het
Ccr1 C T 9: 123,964,053 V147I probably benign Het
Cd84 T C 1: 171,852,137 probably null Het
Cep192 T C 18: 67,858,868 V1939A possibly damaging Het
Chrnb4 A T 9: 55,036,594 L80Q probably damaging Het
Ckmt2 A T 13: 91,863,263 L76H probably damaging Het
Cntnap2 C T 6: 46,015,263 P375S possibly damaging Het
Cped1 A T 6: 22,215,523 L685F probably damaging Het
Dab2ip T C 2: 35,720,013 S682P probably damaging Het
Dclk1 A T 3: 55,247,286 T46S probably damaging Het
Eif2d T A 1: 131,166,352 C427S probably benign Het
Fat4 T A 3: 38,889,039 Y694N probably damaging Het
Gm15217 T C 14: 46,383,311 probably benign Het
Gpr35 T C 1: 92,982,872 I102T probably damaging Het
Hdac3 T C 18: 37,954,885 D10G possibly damaging Het
Hexb G A 13: 97,181,929 T308M probably damaging Het
Inpp5j C A 11: 3,501,595 D436Y possibly damaging Het
Kif18a A G 2: 109,317,988 E609G possibly damaging Het
Kif24 T C 4: 41,413,826 probably null Het
Lrp4 G A 2: 91,486,174 probably benign Het
Mat2b T C 11: 40,684,727 K161E possibly damaging Het
Nek2 T G 1: 191,827,378 probably benign Het
Numa1 A G 7: 102,013,286 T1965A possibly damaging Het
Oca2 G A 7: 56,280,846 G137D probably damaging Het
Pdcl2 T A 5: 76,325,112 D3V probably damaging Het
Ranbp17 T C 11: 33,493,402 N91S probably benign Het
Siglech A T 7: 55,768,887 D146V possibly damaging Het
Slc4a3 C T 1: 75,555,083 T898M probably damaging Het
Sp3 A G 2: 72,938,062 probably benign Het
Tln1 C T 4: 43,542,719 V1396I probably benign Het
Ugt2a3 T A 5: 87,325,655 M468L probably damaging Het
Other mutations in Grk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Grk4 APN 5 34694818 missense probably benign 0.00
IGL02127:Grk4 APN 5 34710186 missense probably benign 0.00
IGL02191:Grk4 APN 5 34755189 missense probably benign 0.27
IGL02227:Grk4 APN 5 34694782 missense probably benign 0.06
IGL03152:Grk4 APN 5 34745357 missense probably damaging 1.00
IGL03214:Grk4 APN 5 34752209 missense probably benign
F5426:Grk4 UTSW 5 34745159 splice site probably benign
R0110:Grk4 UTSW 5 34716213 missense probably damaging 0.97
R0469:Grk4 UTSW 5 34716213 missense probably damaging 0.97
R0671:Grk4 UTSW 5 34748267 missense probably benign 0.04
R1466:Grk4 UTSW 5 34694750 missense probably benign 0.02
R1466:Grk4 UTSW 5 34694750 missense probably benign 0.02
R1584:Grk4 UTSW 5 34694750 missense probably benign 0.02
R1605:Grk4 UTSW 5 34674557 missense probably damaging 0.98
R1607:Grk4 UTSW 5 34731538 missense probably benign 0.01
R1903:Grk4 UTSW 5 34676187 splice site probably null
R2352:Grk4 UTSW 5 34669176 missense probably benign 0.04
R4561:Grk4 UTSW 5 34694813 missense probably benign 0.00
R4580:Grk4 UTSW 5 34660981 missense probably damaging 1.00
R4807:Grk4 UTSW 5 34752208 missense probably benign
R5412:Grk4 UTSW 5 34745268 missense probably benign 0.00
R5905:Grk4 UTSW 5 34711730 missense probably damaging 1.00
R6360:Grk4 UTSW 5 34674537 missense probably damaging 1.00
R6604:Grk4 UTSW 5 34719864 missense probably damaging 1.00
R6865:Grk4 UTSW 5 34731550 missense probably damaging 1.00
R7265:Grk4 UTSW 5 34716264 missense probably damaging 0.96
R7394:Grk4 UTSW 5 34751618 missense probably benign
X0064:Grk4 UTSW 5 34719884 missense possibly damaging 0.76
Posted On2012-04-20