Incidental Mutation 'IGL00703:Bdkrb2'
| ID |
9260 |
| 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 # |
IGL00703
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
105529485-105561496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105558614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 285
(V285A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001652]
|
| AlphaFold |
P32299 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001652
AA Change: V285A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000001652
Gene: ENSMUSG00000021070
AA Change: V285A
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
A |
T |
8: 43,973,216 (GRCm39) |
D595E |
probably damaging |
Het |
| Cdc42se1 |
A |
G |
3: 95,139,856 (GRCm39) |
|
probably benign |
Het |
| Dimt1 |
T |
C |
13: 107,089,938 (GRCm39) |
|
probably benign |
Het |
| Gpx8 |
T |
C |
13: 113,182,047 (GRCm39) |
N129D |
possibly damaging |
Het |
| Ikbke |
A |
T |
1: 131,183,039 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
C |
A |
13: 102,907,275 (GRCm39) |
E558* |
probably null |
Het |
| Mybpc1 |
T |
C |
10: 88,360,970 (GRCm39) |
|
probably null |
Het |
| Nrg3 |
T |
A |
14: 38,092,758 (GRCm39) |
D609V |
probably damaging |
Het |
| Palmd |
A |
G |
3: 116,721,040 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,407 (GRCm39) |
T836A |
probably benign |
Het |
| Ptms |
T |
C |
6: 124,891,919 (GRCm39) |
|
probably benign |
Het |
| Rnf170 |
A |
G |
8: 26,615,946 (GRCm39) |
N79S |
probably damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,578,153 (GRCm39) |
I379V |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,601,078 (GRCm39) |
T134S |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,568,338 (GRCm39) |
V1342I |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,742,268 (GRCm39) |
R38G |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,280,631 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,156,051 (GRCm39) |
Y381F |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,463,119 (GRCm39) |
L434P |
possibly damaging |
Het |
|
| Other mutations in Bdkrb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Bdkrb2
|
APN |
12 |
105,554,562 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation