Incidental Mutation 'R3406:Bdkrb2'
ID 259395
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 040624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R3406 (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: 96.9%
  • 20x: 93.4%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,859,338 (GRCm39) M1K probably null Het
Adam34l A T 8: 44,079,089 (GRCm39) C378* probably null Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Chd4 C A 6: 125,098,970 (GRCm39) T1586K probably benign Het
Cnga3 A G 1: 37,301,146 (GRCm39) E622G probably benign Het
Dbh A G 2: 27,064,977 (GRCm39) D396G possibly damaging Het
Dhodh G A 8: 110,330,107 (GRCm39) R86* probably null Het
Dpt A C 1: 164,624,500 (GRCm39) E67A probably damaging Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Esp4 T A 17: 40,913,336 (GRCm39) L68M possibly damaging Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fbxo38 T C 18: 62,647,914 (GRCm39) T875A probably damaging Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hemk1 G A 9: 107,214,415 (GRCm39) Q6* probably null Het
Hmcn2 C T 2: 31,323,284 (GRCm39) probably benign Het
Hook2 A G 8: 85,720,613 (GRCm39) probably benign Het
Irx3 A G 8: 92,525,555 (GRCm39) S507P unknown Het
Kazn C A 4: 141,966,506 (GRCm39) probably benign Het
Kcne4 C T 1: 78,795,688 (GRCm39) A112V possibly damaging Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Lrrc30 A G 17: 67,939,175 (GRCm39) L135P probably damaging Het
Lyst T A 13: 13,809,815 (GRCm39) M495K possibly damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mlst8 A T 17: 24,697,099 (GRCm39) M56K probably benign Het
Mmp9 A G 2: 164,791,310 (GRCm39) Y160C probably damaging Het
Mslnl A G 17: 25,965,155 (GRCm39) Y507C probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncdn C T 4: 126,642,388 (GRCm39) R423Q probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nek8 G T 11: 78,061,572 (GRCm39) S319* probably null Het
Or11g7 G A 14: 50,690,653 (GRCm39) C48Y probably benign Het
Or52m2 T C 7: 102,263,993 (GRCm39) M68V possibly damaging Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pcdhb15 C A 18: 37,608,442 (GRCm39) A558E probably benign Het
Plrg1 T A 3: 82,978,526 (GRCm39) W431R probably damaging Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Rpgrip1 G A 14: 52,382,666 (GRCm39) D600N possibly damaging Het
Siah3 A G 14: 75,763,421 (GRCm39) D224G probably damaging Het
Slc22a6 T C 19: 8,598,675 (GRCm39) L244P probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Tbck T A 3: 132,432,845 (GRCm39) N418K probably benign Het
Tcp11x2 T C X: 134,555,733 (GRCm39) N474S probably damaging Het
Tenm3 A C 8: 48,681,590 (GRCm39) V2680G probably damaging Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Tlr6 C T 5: 65,110,772 (GRCm39) V712M probably damaging Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Znrf2 A T 6: 54,861,776 (GRCm39) N229I 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
R3404: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'- TCACACACTTGGCAGTAGTC -3'

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