Incidental Mutation 'R1082:Bdkrb2'
| ID |
85879 |
| 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 |
039168-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R1082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105529485-105561496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105558851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 364
(M364K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001652]
|
| AlphaFold |
P32299 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001652
AA Change: M364K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000001652
Gene: ENSMUSG00000021070
AA Change: M364K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
75 |
333 |
8.8e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
G |
A |
3: 137,879,332 (GRCm39) |
R239C |
possibly damaging |
Het |
| Aass |
T |
A |
6: 23,093,907 (GRCm39) |
D138V |
probably damaging |
Het |
| Adam30 |
T |
C |
3: 98,069,606 (GRCm39) |
S480P |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,464,572 (GRCm39) |
D67G |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,815,998 (GRCm39) |
I595T |
probably damaging |
Het |
| Clspn |
A |
T |
4: 126,471,572 (GRCm39) |
N909Y |
possibly damaging |
Het |
| Ddx46 |
T |
C |
13: 55,802,909 (GRCm39) |
V477A |
possibly damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,677,668 (GRCm39) |
S419P |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,917,911 (GRCm39) |
F1504S |
probably damaging |
Het |
| Guf1 |
G |
T |
5: 69,724,555 (GRCm39) |
V416L |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,783 (GRCm39) |
D298G |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,372,402 (GRCm39) |
I154F |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,908,280 (GRCm39) |
S1998P |
probably damaging |
Het |
| Myo6 |
C |
T |
9: 80,195,303 (GRCm39) |
T891M |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,351,385 (GRCm39) |
I2461K |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
| Or7e178 |
A |
T |
9: 20,225,765 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Pi4ka |
A |
T |
16: 17,207,216 (GRCm39) |
S30T |
probably damaging |
Het |
| Ppp1r26 |
A |
G |
2: 28,342,146 (GRCm39) |
D592G |
probably damaging |
Het |
| Ptp4a2 |
T |
C |
4: 129,741,580 (GRCm39) |
F157L |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,433,574 (GRCm39) |
S1365P |
probably damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,689,632 (GRCm39) |
Y33N |
probably damaging |
Het |
| Slco1a7 |
C |
T |
6: 141,657,859 (GRCm39) |
G560S |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,391,782 (GRCm39) |
S1572T |
possibly damaging |
Het |
| Taf6 |
G |
A |
5: 138,180,949 (GRCm39) |
R211C |
possibly damaging |
Het |
| Tyrobp |
T |
C |
7: 30,114,033 (GRCm39) |
S65P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGATCAGCACCTTCCTGGAC -3'
(R):5'- GGATGCTTCAAGCTCCTTCCTGAAC -3'
Sequencing Primer
(F):5'- ACCTTCCTGGACACGCTG -3'
(R):5'- TTCCTGAACCCAGGCTGAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation