Incidental Mutation 'IGL01311:Mrgprb2'
| ID |
73682 |
| 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 # |
IGL01311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48200713-48207834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48201746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 326
(E326D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052730]
|
| AlphaFold |
Q3KNA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052730
AA Change: E326D
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000061878
Gene: ENSMUSG00000050425
AA Change: E326D
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
T |
7: 101,037,343 (GRCm39) |
K457* |
probably null |
Het |
| Arhgef10 |
C |
A |
8: 15,041,054 (GRCm39) |
|
probably null |
Het |
| Becn1 |
C |
T |
11: 101,182,342 (GRCm39) |
G281S |
probably damaging |
Het |
| Borcs8 |
A |
G |
8: 70,617,818 (GRCm39) |
S59G |
probably damaging |
Het |
| Brd10 |
C |
T |
19: 29,731,420 (GRCm39) |
V531I |
probably benign |
Het |
| Capn5 |
C |
A |
7: 97,811,130 (GRCm39) |
R53L |
probably damaging |
Het |
| Cdk5 |
C |
T |
5: 24,624,593 (GRCm39) |
|
probably null |
Het |
| Cnksr1 |
A |
G |
4: 133,957,777 (GRCm39) |
L434P |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,845,486 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,299 (GRCm39) |
D811G |
probably damaging |
Het |
| Haus3 |
G |
A |
5: 34,324,988 (GRCm39) |
Q224* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,690,389 (GRCm39) |
|
probably benign |
Het |
| Jam3 |
T |
G |
9: 27,010,019 (GRCm39) |
T296P |
probably damaging |
Het |
| Kcnrg |
T |
C |
14: 61,849,274 (GRCm39) |
L245P |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,305,059 (GRCm39) |
L909P |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,618,375 (GRCm39) |
D136G |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,425,502 (GRCm39) |
R1450S |
unknown |
Het |
| Ltf |
T |
C |
9: 110,860,080 (GRCm39) |
|
probably benign |
Het |
| Meig1 |
A |
T |
2: 3,410,245 (GRCm39) |
V85D |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,322,238 (GRCm39) |
D65V |
possibly damaging |
Het |
| Or4c100 |
T |
C |
2: 88,356,104 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or52h7 |
T |
C |
7: 104,214,036 (GRCm39) |
Y203H |
probably damaging |
Het |
| Padi2 |
G |
A |
4: 140,644,948 (GRCm39) |
V61I |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,174 (GRCm39) |
S753G |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,144,591 (GRCm39) |
S314P |
probably benign |
Het |
| Serpina3i |
T |
C |
12: 104,233,946 (GRCm39) |
S305P |
probably damaging |
Het |
| Slc16a4 |
G |
T |
3: 107,199,821 (GRCm39) |
V23F |
possibly damaging |
Het |
| Slc25a34 |
G |
A |
4: 141,348,747 (GRCm39) |
T239I |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,076,404 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,885 (GRCm39) |
V1355A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,765,938 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,586,077 (GRCm39) |
E171G |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,206,356 (GRCm39) |
H4864R |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,939 (GRCm39) |
L755* |
probably null |
Het |
| Zfp292 |
C |
T |
4: 34,807,961 (GRCm39) |
M1699I |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,647,129 (GRCm39) |
D880G |
probably damaging |
Het |
|
| Other mutations in Mrgprb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01509:Mrgprb2
|
APN |
7 |
48,202,674 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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 |
2013-10-07 |
Incidental Mutation