Incidental Mutation 'IGL00419:Bdkrb2'
ID4364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bdkrb2
Ensembl Gene ENSMUSG00000021070
Gene Namebradykinin receptor, beta 2
Synonymskinin B2, B2R, B(2), B2, BK2R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL00419
Quality Score
Status
Chromosome12
Chromosomal Location105563226-105595237 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 105588303 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001652]
Predicted Effect probably benign
Transcript: ENSMUST00000001652
SMART Domains Protein: ENSMUSP00000001652
Gene: ENSMUSG00000021070

DomainStartEndE-ValueType
Pfam:7tm_1 75 333 8.8e-56 PFAM
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 receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are indistinguishable from normal littermates, but bradykinin response is eliminated in ileum, uterus, and cervical ganglia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a4 A C 1: 172,239,806 N586K probably damaging Het
AU040320 T C 4: 126,792,234 M201T probably benign Het
Bcap29 A T 12: 31,630,872 F38L probably benign Het
Ceacam5 G T 7: 17,759,556 E835* probably null Het
Cenpp T C 13: 49,647,656 probably null Het
Clca2 A G 3: 145,098,813 V51A probably damaging Het
Dmxl2 T C 9: 54,406,667 N1660D probably damaging Het
Exosc9 T C 3: 36,553,139 probably benign Het
Ezh1 T C 11: 101,194,506 probably null Het
Fbxo24 G A 5: 137,624,301 R68C probably damaging Het
Gbp9 T C 5: 105,094,077 I205V probably benign Het
Gpc5 A G 14: 115,370,024 Y346C probably damaging Het
Hectd1 A G 12: 51,764,035 Y1706H probably damaging Het
Igsf9b A G 9: 27,319,655 Y318C probably damaging Het
Map1a A T 2: 121,299,027 Q182L probably damaging Het
Rab11fip3 A T 17: 25,991,809 probably benign Het
Rbm20 G A 19: 53,843,264 R643Q probably damaging Het
Ros1 A T 10: 52,091,054 C1707S probably damaging Het
Rpgrip1l G T 8: 91,263,574 R747S possibly damaging Het
Rsph10b T C 5: 143,937,087 *166R probably null Het
Sft2d1 G A 17: 8,320,605 C80Y possibly damaging Het
Zdhhc14 T C 17: 5,752,684 probably benign Het
Zfp300 T A X: 21,082,292 Y411F probably damaging Het
Zfp92 T C X: 73,420,158 probably benign Het
Zhx1 A G 15: 58,053,315 F512L probably damaging Het
Other mutations in Bdkrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Bdkrb2 APN 12 105592355 missense probably benign 0.04
R0465:Bdkrb2 UTSW 12 105591859 missense possibly damaging 0.89
R1082:Bdkrb2 UTSW 12 105592592 missense probably benign 0.00
R1171:Bdkrb2 UTSW 12 105592157 missense probably benign
R1589:Bdkrb2 UTSW 12 105591859 missense possibly damaging 0.94
R2265:Bdkrb2 UTSW 12 105592225 missense probably benign 0.00
R3404:Bdkrb2 UTSW 12 105592496 missense possibly damaging 0.90
R3406:Bdkrb2 UTSW 12 105592496 missense possibly damaging 0.90
R3857:Bdkrb2 UTSW 12 105592439 missense probably benign 0.08
R4761:Bdkrb2 UTSW 12 105588278 missense probably benign 0.00
R4833:Bdkrb2 UTSW 12 105591658 missense probably benign 0.10
R6916:Bdkrb2 UTSW 12 105591779 missense probably damaging 0.96
R7358:Bdkrb2 UTSW 12 105592541 missense possibly damaging 0.67
Posted On2012-04-20