Incidental Mutation 'IGL01978:Mrgprb2'
ID |
181775 |
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 # |
IGL01978
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
48200713-48207834 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 48202312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 138
(V138L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052730]
|
AlphaFold |
Q3KNA1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052730
AA Change: V138L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000061878 Gene: ENSMUSG00000050425 AA Change: V138L
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
T |
A |
17: 48,453,164 (GRCm39) |
T6S |
probably damaging |
Het |
Acot5 |
T |
C |
12: 84,122,172 (GRCm39) |
V252A |
possibly damaging |
Het |
Bmper |
A |
T |
9: 23,292,737 (GRCm39) |
N349Y |
probably damaging |
Het |
Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
G |
A |
4: 120,901,863 (GRCm39) |
G139E |
unknown |
Het |
Cplane1 |
A |
T |
15: 8,248,866 (GRCm39) |
N1805I |
probably damaging |
Het |
Cyp2j8 |
A |
C |
4: 96,392,246 (GRCm39) |
|
probably null |
Het |
Dcbld2 |
A |
G |
16: 58,284,682 (GRCm39) |
D612G |
probably benign |
Het |
Dsc3 |
C |
T |
18: 20,107,253 (GRCm39) |
R456Q |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,160,972 (GRCm39) |
T3253A |
probably benign |
Het |
Hoxc12 |
T |
A |
15: 102,845,299 (GRCm39) |
H4Q |
probably damaging |
Het |
Il6st |
A |
G |
13: 112,633,891 (GRCm39) |
E445G |
possibly damaging |
Het |
Ipo8 |
T |
C |
6: 148,678,787 (GRCm39) |
E937G |
probably benign |
Het |
Kif5a |
A |
C |
10: 127,081,608 (GRCm39) |
D185E |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,178,485 (GRCm39) |
D495G |
probably damaging |
Het |
Klra5 |
A |
G |
6: 129,888,393 (GRCm39) |
V11A |
probably benign |
Het |
Lrch1 |
G |
A |
14: 75,023,782 (GRCm39) |
T581M |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,017,315 (GRCm39) |
I450T |
probably damaging |
Het |
Muc15 |
G |
A |
2: 110,561,941 (GRCm39) |
A126T |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,367,632 (GRCm39) |
I522K |
probably damaging |
Het |
Nectin1 |
G |
A |
9: 43,703,444 (GRCm39) |
R234H |
probably damaging |
Het |
Or5b98 |
T |
C |
19: 12,931,406 (GRCm39) |
F151S |
probably benign |
Het |
Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
Pdia6 |
T |
A |
12: 17,324,423 (GRCm39) |
H91Q |
possibly damaging |
Het |
Pfkfb4 |
A |
T |
9: 108,858,010 (GRCm39) |
H445L |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,911,336 (GRCm39) |
T314A |
unknown |
Het |
Rb1cc1 |
A |
G |
1: 6,308,592 (GRCm39) |
D159G |
probably damaging |
Het |
Rhoh |
T |
A |
5: 66,050,031 (GRCm39) |
S100R |
probably benign |
Het |
Rsbn1 |
T |
A |
3: 103,868,816 (GRCm39) |
D618E |
probably damaging |
Het |
Slc25a47 |
T |
C |
12: 108,817,116 (GRCm39) |
V4A |
probably damaging |
Het |
Svs3b |
T |
A |
2: 164,098,541 (GRCm39) |
M1L |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,331,005 (GRCm39) |
N1379S |
probably benign |
Het |
Tmed3 |
T |
C |
9: 89,586,806 (GRCm39) |
D58G |
probably benign |
Het |
Trh |
G |
A |
6: 92,219,596 (GRCm39) |
A240V |
probably benign |
Het |
Ubox5 |
A |
T |
2: 130,442,372 (GRCm39) |
V105E |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,800,649 (GRCm39) |
|
probably null |
Het |
Vps13c |
A |
G |
9: 67,837,925 (GRCm39) |
H1825R |
probably benign |
Het |
Wasf1 |
C |
A |
10: 40,812,197 (GRCm39) |
P329T |
unknown |
Het |
Wee2 |
T |
C |
6: 40,432,087 (GRCm39) |
F219L |
probably damaging |
Het |
Zp3r |
T |
C |
1: 130,526,678 (GRCm39) |
D175G |
probably damaging |
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 |
IGL01509:Mrgprb2
|
APN |
7 |
48,202,674 (GRCm39) |
missense |
possibly damaging |
0.70 |
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 |
2014-05-07 |