Incidental Mutation 'R1803:Grk2'
ID 203344
Institutional Source Beutler Lab
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
MMRRC Submission 039833-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1803 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4336029-4356250 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4344911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 53 (V53M)
Ref Sequence ENSEMBL: ENSMUSP00000109468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025791] [ENSMUST00000088737] [ENSMUST00000113837] [ENSMUST00000167511] [ENSMUST00000171123]
AlphaFold Q99MK8
Predicted Effect probably benign
Transcript: ENSMUST00000025791
AA Change: V11M

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025791
Gene: ENSMUSG00000024858
AA Change: V11M

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 probably benign
Transcript: ENSMUST00000088737
AA Change: V53M

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086114
Gene: ENSMUSG00000024858
AA Change: V53M

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 damaging
Transcript: ENSMUST00000113837
AA Change: V53M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109468
Gene: ENSMUSG00000024858
AA Change: V53M

DomainStartEndE-ValueType
RGS 54 175 3.17e-30 SMART
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: ENSMUST00000167511
AA Change: V73M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129839
Gene: ENSMUSG00000024858
AA Change: V73M

DomainStartEndE-ValueType
Pfam:RGS 74 134 4.5e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171123
AA Change: V53M

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126930
Gene: ENSMUSG00000024858
AA Change: V53M

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A T 17: 79,935,095 (GRCm39) probably benign Het
Adgrl3 C T 5: 81,919,464 (GRCm39) R586* probably null Het
Arpp21 T C 9: 111,956,466 (GRCm39) T471A possibly damaging Het
Blnk T C 19: 40,940,821 (GRCm39) E194G probably damaging Het
Cd44 G A 2: 102,664,597 (GRCm39) P332S probably damaging Het
Cd47 T C 16: 49,688,169 (GRCm39) F30L possibly damaging Het
Cdh23 T C 10: 60,167,060 (GRCm39) E1861G probably damaging Het
Cdkal1 T A 13: 29,701,454 (GRCm39) M332L probably damaging Het
Cul9 A G 17: 46,814,023 (GRCm39) S2284P probably damaging Het
Cyp2a5 G T 7: 26,534,971 (GRCm39) probably null Het
Dcp2 T C 18: 44,528,984 (GRCm39) I33T probably damaging Het
Ddx52 A T 11: 83,836,958 (GRCm39) I150L probably damaging Het
Dennd5a T A 7: 109,497,820 (GRCm39) T1067S probably benign Het
Dnpep A T 1: 75,286,058 (GRCm39) L419* probably null Het
Dock8 A G 19: 25,109,599 (GRCm39) K927R probably benign Het
Dpy19l4 A T 4: 11,281,020 (GRCm39) V475E possibly damaging Het
Edf1 C T 2: 25,450,206 (GRCm39) S41F probably damaging Het
Elapor2 A G 5: 9,477,832 (GRCm39) H410R probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Epha3 T C 16: 63,422,651 (GRCm39) K579E probably benign Het
Exoc1 A G 5: 76,709,288 (GRCm39) N23S probably benign Het
Flt3 C A 5: 147,303,865 (GRCm39) E358* probably null Het
Fzd1 A T 5: 4,806,385 (GRCm39) I399K probably damaging Het
Gdi2 T A 13: 3,614,547 (GRCm39) Y333* probably null Het
Gm10479 A G 12: 20,483,654 (GRCm39) H91R probably benign Het
Gm10842 G A 11: 105,037,867 (GRCm39) R50K unknown Het
Grin2c A T 11: 115,151,558 (GRCm39) probably null Het
H2-M10.2 C T 17: 36,596,763 (GRCm39) M104I probably benign Het
Hyou1 C T 9: 44,295,479 (GRCm39) Q290* probably null Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Itgb2 T C 10: 77,400,624 (GRCm39) S746P probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl2 T C 8: 65,212,831 (GRCm39) E236G probably damaging Het
Krtap19-4 C A 16: 88,681,879 (GRCm39) G26C unknown Het
Krtap4-16 G A 11: 99,741,998 (GRCm39) T134I possibly damaging Het
Lamb2 A G 9: 108,365,298 (GRCm39) H1318R probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Mfsd10 A T 5: 34,794,094 (GRCm39) D6E possibly damaging Het
Mnat1 G T 12: 73,226,007 (GRCm39) G91* probably null Het
Mns1 A T 9: 72,360,016 (GRCm39) I389F probably damaging Het
Morc1 A T 16: 48,443,001 (GRCm39) T829S probably benign Het
Morn5 T A 2: 35,943,089 (GRCm39) V63E probably benign Het
Mybpc1 T C 10: 88,389,157 (GRCm39) T404A possibly damaging Het
Npc1l1 A T 11: 6,178,846 (GRCm39) M188K probably damaging Het
Nrcam T A 12: 44,618,991 (GRCm39) M846K probably benign Het
Nup210 A C 6: 91,051,264 (GRCm39) F373C probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5b111 A T 19: 13,291,535 (GRCm39) V38E possibly damaging Het
Or7g18 T C 9: 18,787,376 (GRCm39) V248A probably damaging Het
Osbpl8 T C 10: 111,110,910 (GRCm39) S471P probably damaging Het
Plekhn1 A T 4: 156,306,838 (GRCm39) I517N probably benign Het
Plin4 G T 17: 56,411,931 (GRCm39) T700K probably damaging Het
Plxna4 A T 6: 32,494,379 (GRCm39) V79D probably damaging Het
Prdm16 A T 4: 154,419,718 (GRCm39) M897K probably damaging Het
Ptprg T A 14: 12,091,410 (GRCm38) probably null Het
Rcan2 G T 17: 44,347,924 (GRCm39) C211F probably damaging Het
Rigi A G 4: 40,224,013 (GRCm39) S289P probably benign Het
Rxfp1 C T 3: 79,645,076 (GRCm39) C9Y probably benign Het
Scn2a G A 2: 65,501,111 (GRCm39) probably null Het
Scnn1a A C 6: 125,309,157 (GRCm39) R264S probably damaging Het
Sema4g T C 19: 44,986,459 (GRCm39) V345A probably benign Het
Sgo2b T A 8: 64,380,426 (GRCm39) D802V probably benign Het
Slc25a21 G A 12: 56,904,872 (GRCm39) T54I probably benign Het
Slc25a46 C T 18: 31,727,641 (GRCm39) E223K probably damaging Het
Slc25a54 A G 3: 109,010,013 (GRCm39) I171V probably benign Het
Slc7a6 T C 8: 106,919,088 (GRCm39) V224A possibly damaging Het
Smchd1 A T 17: 71,694,001 (GRCm39) V1248E probably damaging Het
Sort1 C A 3: 108,233,015 (GRCm39) F196L probably damaging Het
Sptbn4 G A 7: 27,118,008 (GRCm39) T357M probably damaging Het
Srrm3 T A 5: 135,885,983 (GRCm39) W308R probably damaging Het
Stard9 A T 2: 120,531,970 (GRCm39) E2742D probably benign Het
Tas1r1 T A 4: 152,116,705 (GRCm39) I310F probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tff1 A T 17: 31,380,560 (GRCm39) C85* probably null Het
Tlr11 C T 14: 50,598,104 (GRCm39) T30I probably benign Het
Trio T C 15: 27,748,426 (GRCm39) T1265A probably benign Het
Ttc7b T C 12: 100,373,261 (GRCm39) M338V possibly damaging Het
Umod T A 7: 119,063,947 (GRCm39) S620C probably damaging Het
Ust C A 10: 8,173,819 (GRCm39) probably null Het
Vmn1r176 A T 7: 23,534,609 (GRCm39) S181R probably damaging Het
Vmn1r202 T C 13: 22,686,313 (GRCm39) T35A probably benign Het
Vmn1r39 C A 6: 66,781,895 (GRCm39) R104L probably benign Het
Vps13b T A 15: 35,430,351 (GRCm39) Y286* probably null Het
Zfp579 G A 7: 4,996,769 (GRCm39) R381C probably damaging Het
Zfp85 A G 13: 67,899,747 (GRCm39) S71P probably benign Het
Zfyve16 A T 13: 92,640,593 (GRCm39) V1254E probably damaging 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
IGL01465:Grk2 APN 19 4,340,886 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCACCATTCTTTACTGGAGGGG -3'
(R):5'- CATTCTAGCATTGTTTGTTTGCTTGC -3'

Sequencing Primer
(F):5'- CATTCTTTACTGGAGGGGGAGCC -3'
(R):5'- CTGAGGACCTAAGTCTGATACCTG -3'
Posted On 2014-06-23