Incidental Mutation 'R3404:Bdkrb2'
ID 259294
Institutional Source Beutler Lab
Gene Symbol Bdkrb2
Ensembl Gene ENSMUSG00000021070
Gene Name bradykinin receptor, beta 2
Synonyms B2R, kinin B2, BK2R, B(2), B2
MMRRC Submission 040622-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R3404 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 105529485-105561496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105558755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 332 (V332A)
Ref Sequence ENSEMBL: ENSMUSP00000001652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001652]
AlphaFold P32299
Predicted Effect possibly damaging
Transcript: ENSMUST00000001652
AA Change: V332A

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001652
Gene: ENSMUSG00000021070
AA Change: V332A

DomainStartEndE-ValueType
Pfam:7tm_1 75 333 8.8e-56 PFAM
Meta Mutation Damage Score 0.3737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.8%
Validation Efficiency 98% (41/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C T 15: 64,571,449 (GRCm39) V1065M probably damaging Het
Alg12 A T 15: 88,698,782 (GRCm39) I181N probably damaging Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Ankar T A 1: 72,682,252 (GRCm39) K1220* probably null Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Baz1a C T 12: 54,963,774 (GRCm39) S770N probably benign Het
Bcorl1 T A X: 47,459,884 (GRCm39) M1139K probably benign Het
Bnc2 G T 4: 84,464,478 (GRCm39) N20K probably damaging Het
Brip1 T A 11: 86,034,089 (GRCm39) N544I possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Cyp2c66 T C 19: 39,151,771 (GRCm39) V162A probably benign Het
Dnai1 A T 4: 41,603,246 (GRCm39) E176D probably benign Het
Dnhd1 C T 7: 105,343,968 (GRCm39) Q1771* probably null Het
Fezf1 A T 6: 23,247,283 (GRCm39) V264D probably benign Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hemk1 G A 9: 107,214,415 (GRCm39) Q6* probably null Het
Hspa13 C A 16: 75,554,914 (GRCm39) E391* probably null Het
Ighv1-53 T A 12: 115,122,058 (GRCm39) T106S possibly damaging Het
Immp2l T A 12: 41,160,846 (GRCm39) L48* probably null Het
Itgam A G 7: 127,669,875 (GRCm39) probably null Het
Ltn1 A T 16: 87,213,103 (GRCm39) V486D probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mycbp2 C A 14: 103,437,550 (GRCm39) C2104F probably damaging Het
Nlrp2 T C 7: 5,322,286 (GRCm39) D49G probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Prkd1 C T 12: 50,695,687 (GRCm39) A24T unknown Het
Pzp G A 6: 128,490,769 (GRCm39) T398M probably damaging Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Rnf146 A G 10: 29,223,424 (GRCm39) V154A possibly damaging Het
Senp7 T A 16: 56,008,640 (GRCm39) W1007R probably damaging Het
Snx31 C T 15: 36,525,799 (GRCm39) C300Y probably benign Het
Ticrr G C 7: 79,344,539 (GRCm39) S1468T probably benign Het
Trim33 A G 3: 103,228,875 (GRCm39) E327G probably damaging Het
Ubap2l T C 3: 89,946,157 (GRCm39) E149G probably damaging Het
Ube4a A G 9: 44,840,985 (GRCm39) S979P probably damaging Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vps13b T C 15: 35,926,200 (GRCm39) S3834P probably damaging Het
Zfp609 A T 9: 65,608,454 (GRCm39) M1142K possibly damaging Het
Zfp729b T G 13: 67,739,283 (GRCm39) H994P probably damaging Het
Other mutations in Bdkrb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Bdkrb2 APN 12 105,554,562 (GRCm39) splice site probably benign
IGL00703:Bdkrb2 APN 12 105,558,614 (GRCm39) missense probably benign 0.04
R0465:Bdkrb2 UTSW 12 105,558,118 (GRCm39) missense possibly damaging 0.89
R1082:Bdkrb2 UTSW 12 105,558,851 (GRCm39) missense probably benign 0.00
R1171:Bdkrb2 UTSW 12 105,558,416 (GRCm39) missense probably benign
R1589:Bdkrb2 UTSW 12 105,558,118 (GRCm39) missense possibly damaging 0.94
R2265:Bdkrb2 UTSW 12 105,558,484 (GRCm39) missense probably benign 0.00
R3406:Bdkrb2 UTSW 12 105,558,755 (GRCm39) missense possibly damaging 0.90
R3857:Bdkrb2 UTSW 12 105,558,698 (GRCm39) missense probably benign 0.08
R4761:Bdkrb2 UTSW 12 105,554,537 (GRCm39) missense probably benign 0.00
R4833:Bdkrb2 UTSW 12 105,557,917 (GRCm39) missense probably benign 0.10
R6916:Bdkrb2 UTSW 12 105,558,038 (GRCm39) missense probably damaging 0.96
R7358:Bdkrb2 UTSW 12 105,558,800 (GRCm39) missense possibly damaging 0.67
R9256:Bdkrb2 UTSW 12 105,558,352 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- AGTTCAAGGAGGTCCAGACG -3'
(R):5'- ACACACTTGGCAGTAGTCCTG -3'

Sequencing Primer
(F):5'- AAGGCCACCGTGCTAGTG -3'
(R):5'- CAGTAGTCCTGCCTGGTGG -3'
Posted On 2015-01-23