Incidental Mutation 'R5099:Bdkrb1'
| ID |
388187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bdkrb1
|
| Ensembl Gene |
ENSMUSG00000041347 |
| Gene Name |
bradykinin receptor, beta 1 |
| Synonyms |
B1R, kinin B1 |
| MMRRC Submission |
042688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5099 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105570350-105571770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105570533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 33
(D33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041229]
[ENSMUST00000182899]
[ENSMUST00000183086]
|
| AlphaFold |
Q61125 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041229
AA Change: D33G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000045335
Gene: ENSMUSG00000041347
AA Change: D33G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
53 |
319 |
4.7e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182899
AA Change: D33G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138118
Gene: ENSMUSG00000041347
AA Change: D33G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
53 |
319 |
5.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183086
AA Change: D33G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138216
Gene: ENSMUSG00000041347
AA Change: D33G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
53 |
268 |
6.7e-37 |
PFAM |
|
| Meta Mutation Damage Score |
0.3051 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
| Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
| Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
| Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
| Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
| Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
| Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
| Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
| Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
| Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
| Ube2q2 |
T |
A |
9: 55,113,307 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
possibly damaging |
Het |
|
| Other mutations in Bdkrb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Bdkrb1
|
APN |
12 |
105,571,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Bdkrb1
|
APN |
12 |
105,571,040 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02536:Bdkrb1
|
APN |
12 |
105,571,259 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02687:Bdkrb1
|
APN |
12 |
105,571,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1075:Bdkrb1
|
UTSW |
12 |
105,570,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Bdkrb1
|
UTSW |
12 |
105,570,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Bdkrb1
|
UTSW |
12 |
105,570,761 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2046:Bdkrb1
|
UTSW |
12 |
105,570,985 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6542:Bdkrb1
|
UTSW |
12 |
105,571,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Bdkrb1
|
UTSW |
12 |
105,571,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Bdkrb1
|
UTSW |
12 |
105,570,563 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7995:Bdkrb1
|
UTSW |
12 |
105,571,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8497:Bdkrb1
|
UTSW |
12 |
105,570,463 (GRCm39) |
nonsense |
probably null |
|
|
R9019:Bdkrb1
|
UTSW |
12 |
105,570,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Bdkrb1
|
UTSW |
12 |
105,571,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9565:Bdkrb1
|
UTSW |
12 |
105,571,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAAATCGTCACAGATGCTC -3'
(R):5'- GATCAGAAGCTGCCAAGTTAGC -3'
Sequencing Primer
(F):5'- CGTCACAGATGCTCTATATATAAGC -3'
(R):5'- CTGCCAAGTTAGCCAGGTAGATTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation