Incidental Mutation 'R3857:Bdkrb2'
ID |
276223 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bdkrb2
|
Ensembl Gene |
ENSMUSG00000021070 |
Gene Name |
bradykinin receptor, beta 2 |
Synonyms |
B2R, kinin B2, BK2R, B(2), B2 |
MMRRC Submission |
040785-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R3857 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
105529485-105561496 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 105558698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 313
(V313A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001652]
|
AlphaFold |
P32299 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001652
AA Change: V313A
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000001652 Gene: ENSMUSG00000021070 AA Change: V313A
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
75 |
333 |
8.8e-56 |
PFAM |
|
Meta Mutation Damage Score |
0.1215 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.4%
|
Validation Efficiency |
98% (41/42) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccng1 |
A |
G |
11: 40,644,660 (GRCm39) |
L79P |
probably damaging |
Het |
Celf1 |
A |
G |
2: 90,843,086 (GRCm39) |
E411G |
probably damaging |
Het |
Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,882,396 (GRCm39) |
D656G |
probably damaging |
Het |
Eif1ad17 |
T |
A |
12: 87,979,016 (GRCm39) |
D133E |
unknown |
Het |
Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
Ercc8 |
A |
G |
13: 108,330,648 (GRCm39) |
E395G |
possibly damaging |
Het |
Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
F13a1 |
A |
G |
13: 37,209,668 (GRCm39) |
L99P |
probably benign |
Het |
Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
Gse1 |
T |
A |
8: 121,297,872 (GRCm39) |
|
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hs3st1 |
G |
A |
5: 39,772,256 (GRCm39) |
T129I |
probably damaging |
Het |
Irx1 |
A |
T |
13: 72,111,577 (GRCm39) |
Y11N |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,966,440 (GRCm39) |
I1658N |
probably benign |
Het |
Mtmr4 |
G |
A |
11: 87,488,088 (GRCm39) |
V24M |
probably damaging |
Het |
Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,971,795 (GRCm39) |
|
probably benign |
Het |
Pcna |
A |
T |
2: 132,091,541 (GRCm39) |
S261T |
probably benign |
Het |
Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
Pitpnc1 |
T |
C |
11: 107,211,631 (GRCm39) |
|
probably null |
Het |
Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
Rtn4rl2 |
A |
G |
2: 84,710,730 (GRCm39) |
|
probably null |
Het |
Senp6 |
A |
G |
9: 79,999,603 (GRCm39) |
T7A |
possibly damaging |
Het |
Slc4a1 |
A |
T |
11: 102,247,947 (GRCm39) |
V349E |
probably benign |
Het |
Spice1 |
T |
C |
16: 44,175,806 (GRCm39) |
S2P |
probably damaging |
Het |
Spty2d1 |
G |
A |
7: 46,648,044 (GRCm39) |
T295I |
probably benign |
Het |
Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,027,633 (GRCm39) |
Q874R |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,739,319 (GRCm39) |
D3740V |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
Vmn1r19 |
A |
T |
6: 57,382,098 (GRCm39) |
Y217F |
possibly damaging |
Het |
Zfp101 |
G |
T |
17: 33,601,405 (GRCm39) |
S79* |
probably null |
Het |
Zfp512 |
G |
T |
5: 31,630,184 (GRCm39) |
R222L |
probably damaging |
Het |
Zfyve16 |
A |
T |
13: 92,631,479 (GRCm39) |
I1372N |
probably 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGTCATCACCTTCTGCAC -3'
(R):5'- AGGTTCTCAAAGTCCCCATG -3'
Sequencing Primer
(F):5'- CATCTTGCAGGTGCTGAGGAAC -3'
(R):5'- CATGGAGTTCTCCATCTGGACG -3'
|
Posted On |
2015-04-06 |