Incidental Mutation 'IGL02318:Grk3'
ID288129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grk3
Ensembl Gene ENSMUSG00000042249
Gene NameG protein-coupled receptor kinase 3
Synonyms4833444A01Rik, Bark-2, Adrbk-2, Adrbk2, beta ARK2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02318
Quality Score
Status
Chromosome5
Chromosomal Location112910482-113015791 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 112937803 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 314 (Y314H)
Ref Sequence ENSEMBL: ENSMUSP00000142968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065167] [ENSMUST00000197888] [ENSMUST00000200332]
Predicted Effect probably damaging
Transcript: ENSMUST00000065167
AA Change: Y356H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070445
Gene: ENSMUSG00000042249
AA Change: Y356H

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: Y314H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142968
Gene: ENSMUSG00000042249
AA Change: Y314H

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,563,576 F116S probably damaging Het
2410089E03Rik A G 15: 8,175,025 K96E probably damaging Het
4930467E23Rik T C 8: 19,747,799 probably null Het
Abhd18 G A 3: 40,930,227 probably null Het
Akr1c6 G T 13: 4,438,497 C34F probably benign Het
Ankef1 T A 2: 136,544,775 I180N possibly damaging Het
Ap1b1 G A 11: 5,019,294 V217I probably benign Het
Arhgap27 T C 11: 103,333,163 Q608R probably benign Het
Arhgap32 A G 9: 32,259,331 T1136A probably benign Het
Ascc3 T A 10: 50,728,154 Y1323* probably null Het
Bsx A C 9: 40,874,221 Q15P probably benign Het
Cdh20 A G 1: 104,954,039 I410V probably null Het
Col20a1 A G 2: 181,007,159 D945G probably damaging Het
Cox20 A G 1: 178,322,478 probably null Het
Cpne9 A G 6: 113,293,738 D305G possibly damaging Het
Cyp2d12 A G 15: 82,555,243 T33A probably benign Het
Dvl3 A G 16: 20,523,743 R149G possibly damaging Het
Dysf A G 6: 84,186,464 I1624V possibly damaging Het
Echs1 A T 7: 140,111,710 L167Q probably damaging Het
Ect2 A T 3: 27,138,719 N358K probably benign Het
Eml4 A G 17: 83,441,366 I230V probably benign Het
Fut10 A G 8: 31,236,258 Y347C probably damaging Het
Gfm2 C A 13: 97,162,975 N401K probably damaging Het
Gm4788 T A 1: 139,781,097 E24D probably benign Het
Gm4795 C T 10: 45,006,639 noncoding transcript Het
Gm5592 C A 7: 41,286,788 T238N probably benign Het
Gm9892 T C 8: 52,196,225 noncoding transcript Het
Greb1l G T 18: 10,469,388 M134I possibly damaging Het
Hrh2 T C 13: 54,214,650 I215T probably damaging Het
Ilkap A G 1: 91,385,238 probably null Het
Inpp4a T C 1: 37,368,303 Y233H probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lmo7 C T 14: 101,900,066 probably benign Het
Luc7l3 C T 11: 94,292,993 R440Q probably benign Het
Mis18bp1 A C 12: 65,158,741 I219S probably benign Het
Myo9b G A 8: 71,354,124 E1581K probably damaging Het
Nfs1 T A 2: 156,124,271 Q458L probably damaging Het
Numb A T 12: 83,831,918 probably null Het
Nxf1 G A 19: 8,764,150 probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr67 A G 7: 103,788,268 V3A probably benign Het
Pde2a A T 7: 101,503,343 Y371F possibly damaging Het
Phlpp2 G T 8: 109,939,873 L1011F probably benign Het
Prss27 G T 17: 24,045,597 V245L probably benign Het
Rbm7 T C 9: 48,494,111 N56S probably damaging Het
Rftn1 T C 17: 50,036,970 I97V possibly damaging Het
Ric3 T C 7: 109,048,080 T178A probably damaging Het
Rock1 A G 18: 10,104,323 probably benign Het
Sall2 T C 14: 52,315,565 T56A probably damaging Het
Sgk1 T C 10: 21,995,541 S60P probably damaging Het
Smarcad1 G A 6: 65,073,239 A281T probably damaging Het
Spta1 A G 1: 174,174,463 H53R possibly damaging Het
Thbs4 T C 13: 92,763,584 D468G probably damaging Het
Tmem108 A T 9: 103,499,782 V156E probably benign Het
Tmem206 A G 1: 191,348,408 E275G possibly damaging Het
Tnfaip3 T G 10: 19,004,467 R617S probably benign Het
Traf3 A G 12: 111,237,597 M7V probably benign Het
Ubr3 T A 2: 69,979,397 I1237N probably damaging Het
Vmn2r23 T C 6: 123,741,836 V716A probably benign Het
Other mutations in Grk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00974:Grk3 APN 5 112985819 missense probably damaging 1.00
IGL01359:Grk3 APN 5 112937760 missense probably damaging 1.00
IGL02612:Grk3 APN 5 112969234 missense probably benign 0.27
R0142:Grk3 UTSW 5 112915053 missense probably damaging 1.00
R0589:Grk3 UTSW 5 112928763 splice site probably benign
R0607:Grk3 UTSW 5 112920053 missense probably damaging 1.00
R1459:Grk3 UTSW 5 112915012 missense probably benign 0.10
R1554:Grk3 UTSW 5 112969269 missense possibly damaging 0.76
R1640:Grk3 UTSW 5 113015382 missense probably benign 0.36
R1657:Grk3 UTSW 5 112966982 missense probably damaging 1.00
R1789:Grk3 UTSW 5 112941718 missense probably damaging 1.00
R2401:Grk3 UTSW 5 112914983 missense probably benign
R3735:Grk3 UTSW 5 112953831 missense probably benign 0.00
R4024:Grk3 UTSW 5 112914984 missense possibly damaging 0.77
R4025:Grk3 UTSW 5 112914984 missense possibly damaging 0.77
R4392:Grk3 UTSW 5 112920136 missense probably damaging 1.00
R4439:Grk3 UTSW 5 112946677 splice site probably null
R4589:Grk3 UTSW 5 112941718 missense possibly damaging 0.87
R4646:Grk3 UTSW 5 112929720 missense probably benign 0.04
R5154:Grk3 UTSW 5 112941717 missense probably damaging 1.00
R5462:Grk3 UTSW 5 112969208 missense probably damaging 1.00
R5764:Grk3 UTSW 5 112966910 critical splice donor site probably null
R5790:Grk3 UTSW 5 112966976 missense possibly damaging 0.80
R6516:Grk3 UTSW 5 112961549 intron probably benign
R6848:Grk3 UTSW 5 112985775 missense probably damaging 0.98
Posted On2015-04-16