Incidental Mutation 'IGL01465:Grk2'
ID 88091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk2
Ensembl Gene ENSMUSG00000024858
Gene Name G protein-coupled receptor kinase 2
Synonyms betaARK1, Bark-1, Adrbk-1, beta ARK1, Adrbk1, beta-AR kinase-1, beta-adrenergic receptor kinase-1, beta ARK
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01465
Quality Score
Status
Chromosome 19
Chromosomal Location 4336029-4356250 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4340886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 221 (C221S)
Ref Sequence ENSEMBL: ENSMUSP00000126930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025791] [ENSMUST00000088737] [ENSMUST00000113837] [ENSMUST00000171123] [ENSMUST00000167511]
AlphaFold Q99MK8
Predicted Effect possibly damaging
Transcript: ENSMUST00000025791
AA Change: C179S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025791
Gene: ENSMUSG00000024858
AA Change: C179S

DomainStartEndE-ValueType
RGS 12 133 3.17e-30 SMART
S_TKc 149 411 2.43e-86 SMART
S_TK_X 412 491 5.3e-9 SMART
PH 517 612 2.79e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000088737
AA Change: C221S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086114
Gene: ENSMUSG00000024858
AA Change: C221S

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
S_TKc 191 453 2.43e-86 SMART
S_TK_X 454 533 5.3e-9 SMART
PH 559 654 2.79e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113837
SMART Domains Protein: ENSMUSP00000109468
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164427
Predicted Effect probably benign
Transcript: ENSMUST00000165954
SMART Domains Protein: ENSMUSP00000128177
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
Pfam:Pkinase 1 169 5.8e-46 PFAM
Pfam:Pkinase_Tyr 2 155 9.3e-20 PFAM
S_TK_X 170 208 3.39e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167172
Predicted Effect probably damaging
Transcript: ENSMUST00000171123
AA Change: C221S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126930
Gene: ENSMUSG00000024858
AA Change: C221S

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
Pfam:Pkinase_Tyr 191 378 1.1e-21 PFAM
Pfam:Pkinase 191 381 4.9e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169991
Predicted Effect probably benign
Transcript: ENSMUST00000167511
SMART Domains Protein: ENSMUSP00000129839
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
Pfam:RGS 74 134 4.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168594
SMART Domains Protein: ENSMUSP00000126025
Gene: ENSMUSG00000024858

DomainStartEndE-ValueType
Blast:S_TKc 2 38 2e-18 BLAST
S_TK_X 39 85 2.95e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene phosphorylates the beta-2-adrenergic receptor and appears to mediate agonist-specific desensitization observed at high agonist concentrations. This protein is an ubiquitous cytosolic enzyme that specifically phosphorylates the activated form of the beta-adrenergic and related G-protein-coupled receptors. Abnormal coupling of beta-adrenergic receptor to G protein is involved in the pathogenesis of the failing heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality likely due to heart failure. Homozygous mutant embryos are pale in appearance and exhibit ventricular hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Grk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Grk2 APN 19 4,339,339 (GRCm39) critical splice donor site probably null
IGL00927:Grk2 APN 19 4,337,982 (GRCm39) missense probably benign 0.09
IGL02692:Grk2 APN 19 4,340,716 (GRCm39) splice site probably benign
IGL02870:Grk2 APN 19 4,340,430 (GRCm39) missense probably damaging 1.00
IGL03210:Grk2 APN 19 4,337,857 (GRCm39) missense probably benign 0.01
IGL03227:Grk2 APN 19 4,337,857 (GRCm39) missense probably benign 0.01
IGL03230:Grk2 APN 19 4,337,857 (GRCm39) missense probably benign 0.01
Greco UTSW 19 4,340,630 (GRCm39) critical splice donor site probably null
PIT4480001:Grk2 UTSW 19 4,337,437 (GRCm39) missense possibly damaging 0.93
R0008:Grk2 UTSW 19 4,337,262 (GRCm39) missense probably damaging 0.99
R0371:Grk2 UTSW 19 4,341,614 (GRCm39) splice site probably null
R0426:Grk2 UTSW 19 4,340,628 (GRCm39) splice site probably null
R0494:Grk2 UTSW 19 4,341,347 (GRCm39) missense probably damaging 1.00
R0833:Grk2 UTSW 19 4,339,385 (GRCm39) missense probably damaging 1.00
R1240:Grk2 UTSW 19 4,340,707 (GRCm39) missense probably damaging 1.00
R1446:Grk2 UTSW 19 4,337,437 (GRCm39) missense possibly damaging 0.93
R1499:Grk2 UTSW 19 4,337,222 (GRCm39) missense probably benign 0.11
R1664:Grk2 UTSW 19 4,337,268 (GRCm39) missense possibly damaging 0.48
R1796:Grk2 UTSW 19 4,337,968 (GRCm39) missense probably benign 0.12
R1803:Grk2 UTSW 19 4,344,911 (GRCm39) missense probably damaging 1.00
R2021:Grk2 UTSW 19 4,340,698 (GRCm39) missense probably damaging 1.00
R3947:Grk2 UTSW 19 4,342,445 (GRCm39) missense possibly damaging 0.95
R4551:Grk2 UTSW 19 4,336,084 (GRCm39) missense possibly damaging 0.96
R4945:Grk2 UTSW 19 4,340,475 (GRCm39) missense probably damaging 1.00
R5299:Grk2 UTSW 19 4,342,799 (GRCm39) missense probably damaging 1.00
R5753:Grk2 UTSW 19 4,340,496 (GRCm39) missense probably damaging 1.00
R5754:Grk2 UTSW 19 4,340,496 (GRCm39) missense probably damaging 1.00
R5973:Grk2 UTSW 19 4,337,925 (GRCm39) missense possibly damaging 0.88
R6026:Grk2 UTSW 19 4,340,811 (GRCm39) missense probably damaging 0.99
R7117:Grk2 UTSW 19 4,340,630 (GRCm39) critical splice donor site probably null
R7468:Grk2 UTSW 19 4,356,063 (GRCm39) start gained probably benign
R7764:Grk2 UTSW 19 4,337,391 (GRCm39) missense probably damaging 1.00
R8250:Grk2 UTSW 19 4,339,962 (GRCm39) missense probably damaging 1.00
R8789:Grk2 UTSW 19 4,338,511 (GRCm39) missense probably damaging 1.00
R9468:Grk2 UTSW 19 4,344,952 (GRCm39) missense probably damaging 1.00
R9508:Grk2 UTSW 19 4,341,636 (GRCm39) missense probably damaging 1.00
R9526:Grk2 UTSW 19 4,340,871 (GRCm39) missense probably damaging 1.00
R9694:Grk2 UTSW 19 4,338,511 (GRCm39) missense probably damaging 1.00
X0009:Grk2 UTSW 19 4,341,617 (GRCm39) critical splice donor site probably null
Z1176:Grk2 UTSW 19 4,337,673 (GRCm39) missense probably benign 0.00
Posted On 2013-11-18