Incidental Mutation 'IGL00703:Bdkrb2'
ID9260
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: 0.109) question?
Stock #IGL00703
Quality Score
Status
Chromosome12
Chromosomal Location105563226-105595237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105592355 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 285 (V285A)
Ref Sequence ENSEMBL: ENSMUSP00000001652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001652]
Predicted Effect probably benign
Transcript: ENSMUST00000001652
AA Change: V285A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000001652
Gene: ENSMUSG00000021070
AA Change: V285A

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b A T 8: 43,520,179 D595E probably damaging Het
Cdc42se1 A G 3: 95,232,545 probably benign Het
Dimt1 T C 13: 106,953,430 probably benign Het
Gpx8 T C 13: 113,045,513 N129D possibly damaging Het
Ikbke A T 1: 131,255,302 probably benign Het
Mast4 C A 13: 102,770,767 E558* probably null Het
Mybpc1 T C 10: 88,525,108 probably null Het
Nrg3 T A 14: 38,370,801 D609V probably damaging Het
Palmd A G 3: 116,927,391 probably benign Het
Ppp1r3a T C 6: 14,718,408 T836A probably benign Het
Ptms T C 6: 124,914,956 probably benign Het
Rnf170 A G 8: 26,125,918 N79S probably damaging Het
Slc15a2 T C 16: 36,757,791 I379V probably benign Het
Slco1b2 A T 6: 141,655,352 T134S probably damaging Het
Tg G A 15: 66,696,489 V1342I probably benign Het
Tsc22d1 A G 14: 76,504,828 R38G possibly damaging Het
Ufl1 A G 4: 25,280,631 V72A possibly damaging Het
Ugt2b35 A T 5: 87,008,192 Y381F probably benign Het
Vil1 T C 1: 74,423,960 L434P possibly damaging Het
Other mutations in Bdkrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Bdkrb2 APN 12 105588303 splice site probably benign
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 On2012-12-06