Incidental Mutation 'IGL01509:Mrgprb2'
| ID |
89153 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrgprb2
|
| Ensembl Gene |
ENSMUSG00000050425 |
| Gene Name |
MAS-related GPR, member B2 |
| Synonyms |
4833406I20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48200713-48207834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48202674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 17
(T17M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052730]
|
| AlphaFold |
Q3KNA1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052730
AA Change: T17M
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061878
Gene: ENSMUSG00000050425
AA Change: T17M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
54 |
286 |
2.1e-7 |
PFAM |
|
low complexity region
|
293 |
308 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired mast cell activation and inflammatory response after 48/80 treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,495,819 (GRCm39) |
I85N |
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,457,859 (GRCm39) |
N41K |
possibly damaging |
Het |
| Cdh10 |
A |
G |
15: 18,986,884 (GRCm39) |
K372E |
possibly damaging |
Het |
| Clmn |
T |
A |
12: 104,747,162 (GRCm39) |
Q795L |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,713 (GRCm39) |
S583P |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,485,382 (GRCm39) |
G4407S |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,313,142 (GRCm39) |
M109L |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,318,711 (GRCm39) |
M455T |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,617,332 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,909,017 (GRCm39) |
S99P |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,059,716 (GRCm39) |
M410K |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,200,407 (GRCm39) |
R315S |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,117,645 (GRCm39) |
Q625R |
probably benign |
Het |
| Plxna3 |
A |
G |
X: 73,376,039 (GRCm39) |
Q355R |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,069,208 (GRCm39) |
F907I |
possibly damaging |
Het |
| Slc16a4 |
A |
C |
3: 107,218,750 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
C |
14: 27,181,731 (GRCm39) |
|
probably benign |
Het |
| Vmn1r82 |
A |
T |
7: 12,039,096 (GRCm39) |
H123L |
probably damaging |
Het |
| Vmn2r1 |
T |
C |
3: 64,010,466 (GRCm39) |
I568T |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,765,333 (GRCm39) |
V9M |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,287,658 (GRCm39) |
N403S |
probably benign |
Het |
|
| Other mutations in Mrgprb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Mrgprb2
|
APN |
7 |
48,201,746 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01978:Mrgprb2
|
APN |
7 |
48,202,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02307:Mrgprb2
|
APN |
7 |
48,202,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02726:Mrgprb2
|
APN |
7 |
48,202,618 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03393:Mrgprb2
|
APN |
7 |
48,202,650 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0190:Mrgprb2
|
UTSW |
7 |
48,202,525 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0334:Mrgprb2
|
UTSW |
7 |
48,202,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Mrgprb2
|
UTSW |
7 |
48,201,718 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2177:Mrgprb2
|
UTSW |
7 |
48,202,128 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2932:Mrgprb2
|
UTSW |
7 |
48,202,194 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3417:Mrgprb2
|
UTSW |
7 |
48,202,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3953:Mrgprb2
|
UTSW |
7 |
48,202,116 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5673:Mrgprb2
|
UTSW |
7 |
48,202,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5733:Mrgprb2
|
UTSW |
7 |
48,202,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5890:Mrgprb2
|
UTSW |
7 |
48,201,707 (GRCm39) |
makesense |
probably null |
|
|
R5915:Mrgprb2
|
UTSW |
7 |
48,202,554 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6147:Mrgprb2
|
UTSW |
7 |
48,202,113 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6381:Mrgprb2
|
UTSW |
7 |
48,202,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6414:Mrgprb2
|
UTSW |
7 |
48,202,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6965:Mrgprb2
|
UTSW |
7 |
48,202,597 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7017:Mrgprb2
|
UTSW |
7 |
48,202,585 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7341:Mrgprb2
|
UTSW |
7 |
48,202,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7399:Mrgprb2
|
UTSW |
7 |
48,201,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8168:Mrgprb2
|
UTSW |
7 |
48,201,767 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8189:Mrgprb2
|
UTSW |
7 |
48,202,502 (GRCm39) |
nonsense |
probably null |
|
|
R8738:Mrgprb2
|
UTSW |
7 |
48,202,648 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9160:Mrgprb2
|
UTSW |
7 |
48,201,982 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9210:Mrgprb2
|
UTSW |
7 |
48,202,392 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9212:Mrgprb2
|
UTSW |
7 |
48,202,392 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9308:Mrgprb2
|
UTSW |
7 |
48,202,655 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9562:Mrgprb2
|
UTSW |
7 |
48,202,674 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9565:Mrgprb2
|
UTSW |
7 |
48,202,674 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9763:Mrgprb2
|
UTSW |
7 |
48,202,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Mrgprb2
|
UTSW |
7 |
48,202,721 (GRCm39) |
start codon destroyed |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation