Incidental Mutation 'R7322:Bdkrb1'
ID 568232
Institutional Source Beutler Lab
Gene Symbol Bdkrb1
Ensembl Gene ENSMUSG00000041347
Gene Name bradykinin receptor, beta 1
Synonyms B1R, kinin B1
MMRRC Submission 045417-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 105570350-105571770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105570563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 43 (V43A)
Ref Sequence ENSEMBL: ENSMUSP00000138118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041229] [ENSMUST00000182899] [ENSMUST00000183086]
AlphaFold Q61125
Predicted Effect possibly damaging
Transcript: ENSMUST00000041229
AA Change: V43A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045335
Gene: ENSMUSG00000041347
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:7tm_1 53 319 4.7e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182899
AA Change: V43A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138118
Gene: ENSMUSG00000041347
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:7tm_1 53 319 5.3e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183086
AA Change: V43A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138216
Gene: ENSMUSG00000041347
AA Change: V43A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:7tm_1 53 268 6.7e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one null allele display hypoalgesia and altered inflammatory responses while those homozygous for another are reported to have a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,067,151 (GRCm39) V1352D probably damaging Het
Adam33 C T 2: 130,895,614 (GRCm39) C567Y probably damaging Het
Alppl2 C A 1: 87,015,184 (GRCm39) G422C probably benign Het
Ang T A 14: 51,338,868 (GRCm39) I3K unknown Het
Ankrd10 A T 8: 11,665,841 (GRCm39) V253E probably damaging Het
Arhgef17 T C 7: 100,527,004 (GRCm39) I806V probably benign Het
Atp10b T C 11: 43,103,374 (GRCm39) L586P probably damaging Het
Brinp3 C T 1: 146,558,426 (GRCm39) R117* probably null Het
Brwd1 A T 16: 95,867,319 (GRCm39) M172K probably damaging Het
Bsn G A 9: 108,003,620 (GRCm39) R262* probably null Het
Bst2 A C 8: 71,989,851 (GRCm39) L74R probably damaging Het
C1qa T C 4: 136,623,465 (GRCm39) *246W probably null Het
Cadm2 G A 16: 66,679,734 (GRCm39) T42M probably damaging Het
Ccdc150 A G 1: 54,299,125 (GRCm39) T34A probably benign Het
Ccdc178 G A 18: 22,238,606 (GRCm39) T337M probably benign Het
Ccl8 T C 11: 82,007,408 (GRCm39) V81A probably damaging Het
Dgcr6 A G 16: 17,888,771 (GRCm39) T69A unknown Het
Dnah10 A G 5: 124,898,333 (GRCm39) D3762G probably benign Het
Eif3d T C 15: 77,845,876 (GRCm39) T382A probably benign Het
Epb41 A T 4: 131,717,030 (GRCm39) Y375N probably damaging Het
Epb41l1 A T 2: 156,345,771 (GRCm39) H258L probably damaging Het
Fbn1 A C 2: 125,321,115 (GRCm39) I81S possibly damaging Het
Fzd5 A G 1: 64,774,487 (GRCm39) S425P probably damaging Het
Gfra2 T A 14: 71,205,831 (GRCm39) V398D probably benign Het
Gm3755 A G 14: 18,620,904 (GRCm39) L130P Het
Grin3b A G 10: 79,811,529 (GRCm39) Y705C probably damaging Het
Hmcn2 A G 2: 31,349,093 (GRCm39) D4944G probably damaging Het
Hoxd11 T C 2: 74,514,355 (GRCm39) L295P probably damaging Het
Ighv1-81 C A 12: 115,884,287 (GRCm39) G16C possibly damaging Het
Kcna5 T C 6: 126,510,754 (GRCm39) D458G possibly damaging Het
Klb A T 5: 65,540,707 (GRCm39) E933D probably benign Het
Lrp1 A T 10: 127,381,433 (GRCm39) M3855K probably benign Het
Map3k4 A T 17: 12,489,833 (GRCm39) L533I probably damaging Het
Mrps6 C A 16: 91,855,335 (GRCm39) Y4* probably null Het
Nabp1 A T 1: 51,512,229 (GRCm39) V105E probably damaging Het
Naip6 T A 13: 100,435,896 (GRCm39) N876Y possibly damaging Het
Nlrp2 T C 7: 5,311,644 (GRCm39) S944G possibly damaging Het
Nr4a3 A T 4: 48,083,238 (GRCm39) E590D probably benign Het
Or10h5 A G 17: 33,434,673 (GRCm39) I215T probably damaging Het
Or1b1 T C 2: 36,995,603 (GRCm39) R20G probably null Het
Or52ab2 T A 7: 102,970,494 (GRCm39) V292E Het
Or5j1 A T 2: 86,878,823 (GRCm39) Y252* probably null Het
Or8k22 C T 2: 86,162,908 (GRCm39) S264N probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pdzd2 T C 15: 12,437,248 (GRCm39) D451G probably damaging Het
Pkd2l1 A G 19: 44,146,129 (GRCm39) S142P probably benign Het
Postn T C 3: 54,277,701 (GRCm39) L232P probably damaging Het
Prss8 T C 7: 127,528,735 (GRCm39) T33A probably benign Het
Ptgr3 A G 18: 84,113,260 (GRCm39) Y312C probably damaging Het
Rapgef2 A T 3: 79,053,130 (GRCm39) M1K probably null Het
Rasa3 T C 8: 13,645,857 (GRCm39) N161S possibly damaging Het
Riox1 G A 12: 83,997,442 (GRCm39) probably benign Het
Rmdn2 A T 17: 79,929,040 (GRCm39) K97N probably damaging Het
Sgo1 A G 17: 53,984,085 (GRCm39) L431P probably damaging Het
Slc9a8 T A 2: 167,293,222 (GRCm39) V217E probably damaging Het
Slco2b1 C T 7: 99,341,055 (GRCm39) G21D not run Het
Spata31d1d C A 13: 59,874,790 (GRCm39) R915L probably benign Het
Stk17b A T 1: 53,805,104 (GRCm39) N152K probably benign Het
Syne2 T A 12: 76,030,798 (GRCm39) I3634N probably damaging Het
Tnfrsf9 A G 4: 151,018,794 (GRCm39) D155G probably damaging Het
Tnrc6a T A 7: 122,770,731 (GRCm39) D840E probably benign Het
Tyk2 G A 9: 21,021,500 (GRCm39) S902L probably benign Het
Unc119 T C 11: 78,239,449 (GRCm39) S235P probably damaging Het
Vav1 A C 17: 57,609,266 (GRCm39) D394A probably benign Het
Vezf1 T A 11: 87,972,410 (GRCm39) I439K possibly damaging Het
Zfp335 A T 2: 164,752,741 (GRCm39) M1K probably null Het
Zfp715 T C 7: 42,960,562 (GRCm39) T10A possibly damaging Het
Zmynd11 C T 13: 9,740,445 (GRCm39) E382K possibly damaging Het
Other mutations in Bdkrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Bdkrb1 APN 12 105,571,210 (GRCm39) missense probably damaging 1.00
IGL01419:Bdkrb1 APN 12 105,571,040 (GRCm39) missense possibly damaging 0.94
IGL02536:Bdkrb1 APN 12 105,571,259 (GRCm39) missense possibly damaging 0.87
IGL02687:Bdkrb1 APN 12 105,571,091 (GRCm39) missense probably damaging 1.00
R1075:Bdkrb1 UTSW 12 105,570,562 (GRCm39) missense probably benign 0.00
R1652:Bdkrb1 UTSW 12 105,570,502 (GRCm39) missense probably damaging 1.00
R1696:Bdkrb1 UTSW 12 105,570,761 (GRCm39) missense probably benign 0.32
R2046:Bdkrb1 UTSW 12 105,570,985 (GRCm39) missense probably benign 0.43
R5099:Bdkrb1 UTSW 12 105,570,533 (GRCm39) missense probably benign 0.04
R6542:Bdkrb1 UTSW 12 105,571,352 (GRCm39) missense probably damaging 1.00
R7146:Bdkrb1 UTSW 12 105,571,142 (GRCm39) missense probably damaging 1.00
R7995:Bdkrb1 UTSW 12 105,571,379 (GRCm39) missense probably damaging 1.00
R8497:Bdkrb1 UTSW 12 105,570,463 (GRCm39) nonsense probably null
R9019:Bdkrb1 UTSW 12 105,570,700 (GRCm39) missense probably damaging 1.00
R9564:Bdkrb1 UTSW 12 105,571,078 (GRCm39) missense probably benign 0.01
R9565:Bdkrb1 UTSW 12 105,571,078 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGGGATAGACCACAGCTG -3'
(R):5'- CCAAAGGGCCAGTTGAAAC -3'

Sequencing Primer
(F):5'- ACCACAGCTGGGCTTGG -3'
(R):5'- AGTTGAAACGGTTCCCAACGTTC -3'
Posted On 2019-06-26