Incidental Mutation 'IGL01359:Grk3'
ID 75650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk3
Ensembl Gene ENSMUSG00000042249
Gene Name G protein-coupled receptor kinase 3
Synonyms Adrbk-2, beta ARK2, 4833444A01Rik, Bark-2, Adrbk2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01359
Quality Score
Status
Chromosome 5
Chromosomal Location 113058344-113163518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 113085626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 370 (S370I)
Ref Sequence ENSEMBL: ENSMUSP00000070445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065167] [ENSMUST00000197888] [ENSMUST00000200332]
AlphaFold Q3UYH7
Predicted Effect probably damaging
Transcript: ENSMUST00000065167
AA Change: S370I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070445
Gene: ENSMUSG00000042249
AA Change: S370I

DomainStartEndE-ValueType
RGS 54 175 1.44e-28 SMART
S_TKc 191 453 8.94e-85 SMART
S_TK_X 454 530 2.19e-10 SMART
PH 559 654 8.45e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197888
AA Change: S328I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142968
Gene: ENSMUSG00000042249
AA Change: S328I

DomainStartEndE-ValueType
RGS 12 133 1.44e-28 SMART
S_TKc 149 411 8.94e-85 SMART
S_TK_X 412 488 2.19e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200332
SMART Domains Protein: ENSMUSP00000142926
Gene: ENSMUSG00000042249

DomainStartEndE-ValueType
PDB:3V5W|A 1 88 6e-42 PDB
SCOP:d1dk8a_ 48 88 2e-4 SMART
Blast:RGS 54 88 1e-18 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation of this gene appear normal and are fertile, but exhibit a lack of odorant receptor-mediated desensitization in the olfactory epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,621,577 (GRCm39) E605K probably damaging Het
Adgrl4 G A 3: 151,248,923 (GRCm39) C737Y probably damaging Het
Ankk1 A T 9: 49,327,328 (GRCm39) I617N possibly damaging Het
B3gat2 T C 1: 23,802,301 (GRCm39) F196L probably damaging Het
Bcl2l14 T A 6: 134,400,828 (GRCm39) I83N probably damaging Het
Bcr T C 10: 74,995,611 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,009,939 (GRCm39) I127N probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah11 T C 12: 117,946,734 (GRCm39) T3117A probably damaging Het
Dnai2 A G 11: 114,642,614 (GRCm39) Y405C probably benign Het
Emc2 A G 15: 43,375,145 (GRCm39) Y214C probably damaging Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fkrp C T 7: 16,545,415 (GRCm39) R149Q probably benign Het
Fsd1l A G 4: 53,659,601 (GRCm39) R153G possibly damaging Het
Galnt4 T C 10: 98,945,459 (GRCm39) Y395H probably damaging Het
Gk5 T C 9: 96,019,842 (GRCm39) L126P probably damaging Het
Gm973 A G 1: 59,669,438 (GRCm39) S830G probably benign Het
Gpc5 G A 14: 115,607,162 (GRCm39) G255S possibly damaging Het
Herc1 A G 9: 66,346,550 (GRCm39) D1972G probably benign Het
Itih3 T A 14: 30,639,729 (GRCm39) D364V probably damaging Het
Lce1f G T 3: 92,626,491 (GRCm39) C55* probably null Het
Ltn1 A C 16: 87,202,581 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,315 (GRCm39) A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 (GRCm39) E3974G probably benign Het
Msl3l2 T C 10: 55,992,340 (GRCm39) V355A probably damaging Het
Nadsyn1 T C 7: 143,374,967 (GRCm39) I30V possibly damaging Het
Nuggc T C 14: 65,860,656 (GRCm39) V418A probably damaging Het
Or4f57 A T 2: 111,791,406 (GRCm39) M4K probably benign Het
Or52e8 T C 7: 104,625,193 (GRCm39) probably null Het
Or52m2 A T 7: 102,263,379 (GRCm39) H272Q probably benign Het
Ppp4r3a T C 12: 101,024,755 (GRCm39) E248G probably damaging Het
Rab3gap2 T A 1: 184,971,067 (GRCm39) V234E probably damaging Het
Radil G A 5: 142,529,468 (GRCm39) T105I probably damaging Het
Saa4 A G 7: 46,381,060 (GRCm39) W21R possibly damaging Het
Sec62 G A 3: 30,868,455 (GRCm39) S228N unknown Het
Setd4 C T 16: 93,388,127 (GRCm39) G120S probably damaging Het
Sgpl1 G A 10: 60,936,687 (GRCm39) T556I probably benign Het
Slc14a2 T C 18: 78,197,323 (GRCm39) D811G probably benign Het
Slc26a11 A T 11: 119,254,257 (GRCm39) M192L probably benign Het
Spon1 A T 7: 113,633,525 (GRCm39) Q656L probably damaging Het
Tex15 A G 8: 34,071,926 (GRCm39) D2491G probably damaging Het
Tox T C 4: 6,697,583 (GRCm39) T407A probably damaging Het
Ubr5 A T 15: 37,973,250 (GRCm39) I2611N probably damaging Het
Usp25 G A 16: 76,856,141 (GRCm39) A245T probably damaging Het
Vwa8 C A 14: 79,302,353 (GRCm39) Y1007* probably null Het
Zfp423 T C 8: 88,507,290 (GRCm39) H893R probably damaging Het
Zfp507 A G 7: 35,493,927 (GRCm39) I372T probably damaging Het
Other mutations in Grk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00974:Grk3 APN 5 113,133,685 (GRCm39) missense probably damaging 1.00
IGL02318:Grk3 APN 5 113,085,669 (GRCm39) missense probably damaging 1.00
IGL02612:Grk3 APN 5 113,117,100 (GRCm39) missense probably benign 0.27
R0142:Grk3 UTSW 5 113,062,919 (GRCm39) missense probably damaging 1.00
R0589:Grk3 UTSW 5 113,076,629 (GRCm39) splice site probably benign
R0607:Grk3 UTSW 5 113,067,919 (GRCm39) missense probably damaging 1.00
R1459:Grk3 UTSW 5 113,062,878 (GRCm39) missense probably benign 0.10
R1554:Grk3 UTSW 5 113,117,135 (GRCm39) missense possibly damaging 0.76
R1640:Grk3 UTSW 5 113,163,248 (GRCm39) missense probably benign 0.36
R1657:Grk3 UTSW 5 113,114,848 (GRCm39) missense probably damaging 1.00
R1789:Grk3 UTSW 5 113,089,584 (GRCm39) missense probably damaging 1.00
R2401:Grk3 UTSW 5 113,062,849 (GRCm39) missense probably benign
R3735:Grk3 UTSW 5 113,101,697 (GRCm39) missense probably benign 0.00
R4024:Grk3 UTSW 5 113,062,850 (GRCm39) missense possibly damaging 0.77
R4025:Grk3 UTSW 5 113,062,850 (GRCm39) missense possibly damaging 0.77
R4392:Grk3 UTSW 5 113,068,002 (GRCm39) missense probably damaging 1.00
R4439:Grk3 UTSW 5 113,094,543 (GRCm39) splice site probably null
R4589:Grk3 UTSW 5 113,089,584 (GRCm39) missense possibly damaging 0.87
R4646:Grk3 UTSW 5 113,077,586 (GRCm39) missense probably benign 0.04
R5154:Grk3 UTSW 5 113,089,583 (GRCm39) missense probably damaging 1.00
R5462:Grk3 UTSW 5 113,117,074 (GRCm39) missense probably damaging 1.00
R5764:Grk3 UTSW 5 113,114,776 (GRCm39) critical splice donor site probably null
R5790:Grk3 UTSW 5 113,114,842 (GRCm39) missense possibly damaging 0.80
R6516:Grk3 UTSW 5 113,109,415 (GRCm39) intron probably benign
R6848:Grk3 UTSW 5 113,133,641 (GRCm39) missense probably damaging 0.98
R7857:Grk3 UTSW 5 113,109,427 (GRCm39) missense unknown
R7873:Grk3 UTSW 5 113,077,552 (GRCm39) missense probably benign 0.03
R8029:Grk3 UTSW 5 113,109,508 (GRCm39) missense probably benign
R8132:Grk3 UTSW 5 113,109,355 (GRCm39) missense unknown
R8204:Grk3 UTSW 5 113,105,225 (GRCm39) missense probably benign 0.17
R8903:Grk3 UTSW 5 113,066,697 (GRCm39) missense possibly damaging 0.89
R9450:Grk3 UTSW 5 113,062,913 (GRCm39) missense probably benign 0.06
R9794:Grk3 UTSW 5 113,121,448 (GRCm39) critical splice acceptor site probably null
RF021:Grk3 UTSW 5 113,089,554 (GRCm39) missense probably benign 0.20
Z1176:Grk3 UTSW 5 113,105,180 (GRCm39) critical splice donor site probably null
Posted On 2013-10-07