Incidental Mutation 'IGL02726:Mrgprb2'
| ID |
305230 |
| 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 # |
IGL02726
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48200713-48207834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48202618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 36
(R36W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052730]
|
| AlphaFold |
Q3KNA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052730
AA Change: R36W
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061878
Gene: ENSMUSG00000050425
AA Change: R36W
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
T |
2: 128,501,705 (GRCm39) |
M779K |
probably benign |
Het |
| Art1 |
G |
A |
7: 101,759,955 (GRCm39) |
V85M |
probably damaging |
Het |
| Atad2b |
G |
T |
12: 5,024,003 (GRCm39) |
E43* |
probably null |
Het |
| Clec4a4 |
A |
T |
6: 122,967,338 (GRCm39) |
I5F |
probably damaging |
Het |
| Cr1l |
A |
T |
1: 194,812,188 (GRCm39) |
I45N |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,676,140 (GRCm39) |
|
probably benign |
Het |
| Dnajb3 |
A |
T |
1: 88,133,372 (GRCm39) |
V10E |
probably damaging |
Het |
| Dnajc22 |
A |
T |
15: 98,998,881 (GRCm39) |
H22L |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,745 (GRCm39) |
V40A |
probably damaging |
Het |
| Dsg1b |
G |
A |
18: 20,532,542 (GRCm39) |
V529I |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,767,878 (GRCm39) |
|
probably null |
Het |
| Fam131c |
T |
A |
4: 141,110,113 (GRCm39) |
D170E |
probably benign |
Het |
| Got1 |
G |
A |
19: 43,488,851 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,349,270 (GRCm39) |
V2043E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,532,445 (GRCm39) |
Y3147* |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,455,233 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,272,964 (GRCm39) |
I504N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,277,419 (GRCm39) |
I655T |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,904,457 (GRCm39) |
|
probably null |
Het |
| Mslnl |
T |
C |
17: 25,963,077 (GRCm39) |
|
probably null |
Het |
| Or10ak14 |
T |
A |
4: 118,610,961 (GRCm39) |
Y260F |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,691 (GRCm39) |
S87G |
probably benign |
Het |
| Or2ag1b |
A |
C |
7: 106,288,577 (GRCm39) |
Y120* |
probably null |
Het |
| Or8k16 |
G |
T |
2: 85,520,554 (GRCm39) |
L260F |
possibly damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,620,986 (GRCm39) |
M935I |
probably benign |
Het |
| Pdgfra |
C |
T |
5: 75,355,618 (GRCm39) |
Q1043* |
probably null |
Het |
| Pf4 |
T |
C |
5: 90,920,523 (GRCm39) |
V28A |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,213,894 (GRCm39) |
L1689P |
probably damaging |
Het |
| Ppa2 |
A |
G |
3: 133,076,222 (GRCm39) |
S284G |
possibly damaging |
Het |
| Pramel22 |
G |
T |
4: 143,381,955 (GRCm39) |
P247H |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,120,355 (GRCm39) |
|
probably null |
Het |
| Rbm25 |
G |
T |
12: 83,719,626 (GRCm39) |
G549W |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,753,206 (GRCm39) |
D1705G |
probably damaging |
Het |
| Shf |
A |
T |
2: 122,189,969 (GRCm39) |
D96E |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,889,169 (GRCm39) |
V481M |
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,672,670 (GRCm39) |
V807A |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,062,356 (GRCm39) |
I4226N |
probably damaging |
Het |
| Tex56 |
A |
G |
13: 35,136,943 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
T |
19: 10,573,576 (GRCm39) |
V254E |
possibly damaging |
Het |
| Ubr2 |
A |
C |
17: 47,283,847 (GRCm39) |
Y601D |
probably damaging |
Het |
| Ubr5 |
A |
C |
15: 38,000,806 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,854 (GRCm39) |
I50K |
possibly damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation