Incidental Mutation 'R9019:Bdkrb1'
ID 686625
Institutional Source Beutler Lab
Gene Symbol Bdkrb1
Ensembl Gene ENSMUSG00000041347
Gene Name bradykinin receptor, beta 1
Synonyms B1R, kinin B1
MMRRC Submission 068849-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9019 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 105570350-105571770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105570700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 89 (S89P)
Ref Sequence ENSEMBL: ENSMUSP00000138118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041229] [ENSMUST00000182899] [ENSMUST00000183086]
AlphaFold Q61125
Predicted Effect probably damaging
Transcript: ENSMUST00000041229
AA Change: S89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045335
Gene: ENSMUSG00000041347
AA Change: S89P

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:7tm_1 53 319 4.7e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182899
AA Change: S89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138118
Gene: ENSMUSG00000041347
AA Change: S89P

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:7tm_1 53 319 5.3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183086
AA Change: S89P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138216
Gene: ENSMUSG00000041347
AA Change: S89P

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,011,522 (GRCm39) T1174S Het
Aoc2 C T 11: 101,216,262 (GRCm39) P115L possibly damaging Het
Arhgef19 C T 4: 140,973,738 (GRCm39) P75L probably benign Het
Atad3a A G 4: 155,838,052 (GRCm39) V240A possibly damaging Het
AW551984 A T 9: 39,508,973 (GRCm39) L317* probably null Het
Bpifb4 T A 2: 153,790,607 (GRCm39) L166* probably null Het
Ccdc27 A G 4: 154,124,014 (GRCm39) V173A unknown Het
Ccl8 T C 11: 82,006,877 (GRCm39) V30A probably benign Het
Cdc16 C T 8: 13,831,501 (GRCm39) A578V probably benign Het
Cnksr1 T C 4: 133,959,365 (GRCm39) Y423C probably damaging Het
Cyp3a44 T C 5: 145,727,519 (GRCm39) D270G probably damaging Het
Ep300 A G 15: 81,532,730 (GRCm39) E1656G unknown Het
Eppk1 A G 15: 75,992,472 (GRCm39) F1470L probably benign Het
Fbxw16 T A 9: 109,270,135 (GRCm39) D202V probably damaging Het
Fndc3a G A 14: 72,811,840 (GRCm39) T330I probably benign Het
Gm36864 A T 7: 43,887,028 (GRCm39) Q307L probably benign Het
Gm37240 T C 3: 84,426,946 (GRCm39) E38G probably damaging Het
Gm6871 A T 7: 41,195,262 (GRCm39) C492S probably damaging Het
Gnaq T C 19: 16,355,638 (GRCm39) Y285H probably benign Het
Htt T A 5: 35,023,920 (GRCm39) F1723I probably damaging Het
Il21r G A 7: 125,231,472 (GRCm39) S300N probably damaging Het
Itm2b G A 14: 73,605,856 (GRCm39) probably benign Het
Kat6a T C 8: 23,425,754 (GRCm39) S1100P probably damaging Het
Kcnj2 T C 11: 110,963,415 (GRCm39) I269T probably damaging Het
Kmt2c G A 5: 25,488,208 (GRCm39) A4635V probably damaging Het
Kng2 A T 16: 22,847,546 (GRCm39) D38E probably damaging Het
Lgr5 A C 10: 115,314,454 (GRCm39) L161R probably damaging Het
Lrig2 A T 3: 104,368,914 (GRCm39) I923N probably benign Het
Mrgprh T C 17: 13,096,200 (GRCm39) S147P probably damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nsmaf A T 4: 6,418,523 (GRCm39) S427R probably damaging Het
Or8g53 G T 9: 39,684,038 (GRCm39) D19E probably benign Het
Pdcd11 G T 19: 47,101,658 (GRCm39) G948C probably damaging Het
Pdzd2 A G 15: 12,375,612 (GRCm39) Y1508H probably damaging Het
Prmt5 G T 14: 54,753,564 (GRCm39) A105E probably benign Het
Prr23a3 T C 9: 98,747,213 (GRCm39) S56P probably damaging Het
Slc44a2 A G 9: 21,265,077 (GRCm39) E705G probably damaging Het
Sostdc1 A T 12: 36,364,431 (GRCm39) N47Y probably benign Het
Speg T C 1: 75,405,882 (GRCm39) Y3029H probably damaging Het
Srd5a1 G A 13: 69,748,413 (GRCm39) R129* probably null Het
Srrm4 A G 5: 116,605,586 (GRCm39) S224P unknown Het
Syne2 A G 12: 75,999,618 (GRCm39) E2337G possibly damaging Het
Tmem150c C A 5: 100,240,958 (GRCm39) V32L probably benign Het
Topaz1 T C 9: 122,619,192 (GRCm39) I1263T possibly damaging Het
Ttc39d C T 17: 80,523,349 (GRCm39) R3W probably benign Het
Xylt1 T C 7: 117,250,038 (GRCm39) probably null Het
Zfp933 A T 4: 147,911,021 (GRCm39) C192S probably damaging Het
Zswim8 G A 14: 20,761,119 (GRCm39) G129D probably 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
R7322:Bdkrb1 UTSW 12 105,570,563 (GRCm39) missense possibly damaging 0.56
R7995:Bdkrb1 UTSW 12 105,571,379 (GRCm39) missense probably damaging 1.00
R8497:Bdkrb1 UTSW 12 105,570,463 (GRCm39) nonsense probably null
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'- TTCTAACCAAAGCCAGCAGG -3'
(R):5'- TATACCAGCAACCTGTAGCGG -3'

Sequencing Primer
(F):5'- CAACATCACCTCCTGCGAG -3'
(R):5'- AACCTGTAGCGGTCCTGACTG -3'
Posted On 2021-11-19