Incidental Mutation 'IGL00419:Bdkrb2'
ID |
4364 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bdkrb2
|
Ensembl Gene |
ENSMUSG00000021070 |
Gene Name |
bradykinin receptor, beta 2 |
Synonyms |
B2R, kinin B2, BK2R, B(2), B2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL00419
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
105529485-105561496 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 105554562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001652]
|
AlphaFold |
P32299 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001652
|
SMART Domains |
Protein: ENSMUSP00000001652 Gene: ENSMUSG00000021070
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
75 |
333 |
8.8e-56 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1a4 |
A |
C |
1: 172,067,373 (GRCm39) |
N586K |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,686,027 (GRCm39) |
M201T |
probably benign |
Het |
Bcap29 |
A |
T |
12: 31,680,871 (GRCm39) |
F38L |
probably benign |
Het |
Ceacam5 |
G |
T |
7: 17,493,481 (GRCm39) |
E835* |
probably null |
Het |
Cenpp |
T |
C |
13: 49,801,132 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
A |
G |
3: 144,804,574 (GRCm39) |
V51A |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,313,951 (GRCm39) |
N1660D |
probably damaging |
Het |
Exosc9 |
T |
C |
3: 36,607,288 (GRCm39) |
|
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,085,332 (GRCm39) |
|
probably null |
Het |
Fbxo24 |
G |
A |
5: 137,622,563 (GRCm39) |
R68C |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,241,943 (GRCm39) |
I205V |
probably benign |
Het |
Gpc5 |
A |
G |
14: 115,607,436 (GRCm39) |
Y346C |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,810,818 (GRCm39) |
Y1706H |
probably damaging |
Het |
Igsf9b |
A |
G |
9: 27,230,951 (GRCm39) |
Y318C |
probably damaging |
Het |
Map1a |
A |
T |
2: 121,129,508 (GRCm39) |
Q182L |
probably damaging |
Het |
Rab11fip3 |
A |
T |
17: 26,210,783 (GRCm39) |
|
probably benign |
Het |
Rbm20 |
G |
A |
19: 53,831,695 (GRCm39) |
R643Q |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,967,150 (GRCm39) |
C1707S |
probably damaging |
Het |
Rpgrip1l |
G |
T |
8: 91,990,202 (GRCm39) |
R747S |
possibly damaging |
Het |
Rsph10b |
T |
C |
5: 143,873,905 (GRCm39) |
*166R |
probably null |
Het |
Sft2d1 |
G |
A |
17: 8,539,437 (GRCm39) |
C80Y |
possibly damaging |
Het |
Zdhhc14 |
T |
C |
17: 5,802,959 (GRCm39) |
|
probably benign |
Het |
Zfp300 |
T |
A |
X: 20,948,531 (GRCm39) |
Y411F |
probably damaging |
Het |
Zfp92 |
T |
C |
X: 72,463,764 (GRCm39) |
|
probably benign |
Het |
Zhx1 |
A |
G |
15: 57,916,711 (GRCm39) |
F512L |
probably damaging |
Het |
|
Other mutations in Bdkrb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |