Incidental Mutation 'IGL01419:Bdkrb1'
ID80302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bdkrb1
Ensembl Gene ENSMUSG00000041347
Gene Namebradykinin receptor, beta 1
SynonymsB1R, kinin B1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01419
Quality Score
Status
Chromosome12
Chromosomal Location105603085-105605428 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105604781 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 202 (H202R)
Ref Sequence ENSEMBL: ENSMUSP00000138216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041229] [ENSMUST00000182899] [ENSMUST00000183086]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041229
AA Change: H202R

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045335
Gene: ENSMUSG00000041347
AA Change: H202R

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: H202R

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138118
Gene: ENSMUSG00000041347
AA Change: H202R

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: H202R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138216
Gene: ENSMUSG00000041347
AA Change: H202R

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:7tm_1 53 268 6.7e-37 PFAM
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,048,121 S1323P probably damaging Het
Abca2 A T 2: 25,437,514 T672S probably damaging Het
Adamts14 A T 10: 61,205,542 probably benign Het
Adgrv1 T C 13: 81,557,158 E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 R584G probably damaging Het
Apob A T 12: 8,002,251 I1218F probably damaging Het
Atp5a1 T C 18: 77,777,533 S52P probably damaging Het
B4galnt3 A G 6: 120,215,390 S462P possibly damaging Het
Cd300lf T C 11: 115,126,354 K48E probably benign Het
Chuk A T 19: 44,096,981 I242K probably damaging Het
Csde1 A G 3: 103,038,770 T27A probably damaging Het
D930048N14Rik C T 11: 51,654,776 probably benign Het
Depdc7 A T 2: 104,722,110 Y451N possibly damaging Het
Diaph3 C A 14: 86,965,553 G623* probably null Het
Dlc1 T C 8: 36,850,217 T435A probably benign Het
Dock8 A G 19: 25,119,452 S575G probably benign Het
Fbxw22 T A 9: 109,381,722 Y407F probably benign Het
Fzd4 C A 7: 89,407,735 A330E probably damaging Het
Gm17415 A G 1: 93,421,950 probably benign Het
Gm4788 T C 1: 139,739,644 probably null Het
Gnat1 C T 9: 107,679,434 probably null Het
Gtf3c4 T C 2: 28,835,069 Y76C probably damaging Het
Heatr5b G A 17: 78,796,510 H1079Y probably benign Het
Helz T G 11: 107,686,514 I1897S unknown Het
Hspa12a T C 19: 58,828,249 probably null Het
Kcne1 G T 16: 92,348,646 F103L probably benign Het
Lrrc20 A T 10: 61,548,095 S94C probably damaging Het
Lrrc8a A G 2: 30,257,099 T642A probably benign Het
Ly6g5b A G 17: 35,114,518 L106P probably benign Het
Lyst A G 13: 13,635,838 S698G probably benign Het
Ndrg1 A G 15: 66,931,051 V334A probably benign Het
Neb A T 2: 52,226,533 Y964* probably null Het
Olfr1047 A T 2: 86,228,629 I114N possibly damaging Het
Olfr1230 T C 2: 89,296,345 probably benign Het
Parp10 A G 15: 76,241,388 F497L probably damaging Het
Pdss1 A G 2: 22,935,577 M343V possibly damaging Het
Phactr3 C T 2: 178,279,062 T231I probably benign Het
Plekhh2 A T 17: 84,583,552 probably benign Het
Ppp1r12c A C 7: 4,486,352 probably null Het
Prdm2 G T 4: 143,133,648 P1024H probably damaging Het
Prkacb A T 3: 146,755,693 M1K probably null Het
Prkdc C A 16: 15,835,166 P3835Q probably damaging Het
Rps27a T C 11: 29,546,353 T87A probably benign Het
Ryr2 T A 13: 11,799,837 E683V possibly damaging Het
Sbk2 A G 7: 4,957,529 L214P probably damaging Het
Sema4g A G 19: 44,997,396 S250G probably benign Het
Slc27a6 T A 18: 58,609,209 D498E probably benign Het
Tarbp1 T C 8: 126,428,155 D1410G probably benign Het
Tas2r134 T A 2: 51,627,747 Y79* probably null Het
Tie1 T C 4: 118,476,098 D857G probably damaging Het
Tnk2 A G 16: 32,680,680 N432S probably damaging Het
Tubg2 C A 11: 101,159,057 D176E probably benign Het
Ugt2b34 A T 5: 86,891,405 W466R probably damaging Het
Usp47 T A 7: 112,087,911 M692K possibly damaging Het
Vmn2r106 T C 17: 20,279,545 K143E probably benign Het
Vmn2r118 G A 17: 55,593,000 L635F probably benign Het
Vmn2r16 C T 5: 109,362,401 probably benign Het
Vmn2r76 A T 7: 86,225,702 M689K probably benign Het
Xkr6 T C 14: 63,818,876 Y79H probably benign Het
Zdhhc6 A G 19: 55,309,754 F224L probably benign Het
Zfp493 T G 13: 67,786,802 I291M probably benign Het
Other mutations in Bdkrb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00597:Bdkrb1 APN 12 105604951 missense probably damaging 1.00
IGL02536:Bdkrb1 APN 12 105605000 missense possibly damaging 0.87
IGL02687:Bdkrb1 APN 12 105604832 missense probably damaging 1.00
R1075:Bdkrb1 UTSW 12 105604303 missense probably benign 0.00
R1652:Bdkrb1 UTSW 12 105604243 missense probably damaging 1.00
R1696:Bdkrb1 UTSW 12 105604502 missense probably benign 0.32
R2046:Bdkrb1 UTSW 12 105604726 missense probably benign 0.43
R5099:Bdkrb1 UTSW 12 105604274 missense probably benign 0.04
R6542:Bdkrb1 UTSW 12 105605093 missense probably damaging 1.00
R7146:Bdkrb1 UTSW 12 105604883 missense probably damaging 1.00
R7322:Bdkrb1 UTSW 12 105604304 missense possibly damaging 0.56
R7995:Bdkrb1 UTSW 12 105605120 missense probably damaging 1.00
Posted On2013-11-05