Incidental Mutation 'R8189:Mrgprb2'
| ID |
635023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb2
|
| Ensembl Gene |
ENSMUSG00000050425 |
| Gene Name |
MAS-related GPR, member B2 |
| Synonyms |
4833406I20Rik |
| MMRRC Submission |
067612-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8189 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48200713-48207834 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 48202502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 74
(Y74*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052730]
|
| AlphaFold |
Q3KNA1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052730
AA Change: Y74*
|
| SMART Domains |
Protein: ENSMUSP00000061878
Gene: ENSMUSG00000050425
AA Change: Y74*
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,885 (GRCm39) |
I1531T |
probably damaging |
Het |
| Ankrd13d |
G |
A |
19: 4,320,880 (GRCm39) |
P516S |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,364,214 (GRCm39) |
|
probably null |
Het |
| Cchcr1 |
A |
G |
17: 35,837,563 (GRCm39) |
I422V |
probably benign |
Het |
| Ceacam1 |
A |
G |
7: 25,173,343 (GRCm39) |
S282P |
probably damaging |
Het |
| Chka |
G |
T |
19: 3,925,759 (GRCm39) |
E159* |
probably null |
Het |
| Ckmt2 |
T |
C |
13: 92,003,894 (GRCm39) |
Y368C |
probably damaging |
Het |
| Cngb1 |
TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG |
TTCTGGCTCTGGCTCTGGCTCTGG |
8: 96,030,248 (GRCm39) |
|
probably benign |
Het |
| Ctsq |
A |
G |
13: 61,184,969 (GRCm39) |
L239P |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,135,106 (GRCm39) |
L1358P |
probably damaging |
Het |
| Dglucy |
G |
A |
12: 100,804,889 (GRCm39) |
E127K |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,910,077 (GRCm39) |
L794P |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,774,629 (GRCm39) |
T654I |
probably damaging |
Het |
| Gmeb2 |
G |
A |
2: 180,919,760 (GRCm39) |
T38M |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,108,625 (GRCm39) |
F243L |
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,629,489 (GRCm39) |
D244E |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,106,396 (GRCm39) |
I1005F |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,756 (GRCm39) |
F2658L |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,013,164 (GRCm39) |
D27G |
probably damaging |
Het |
| Mtrex |
T |
A |
13: 113,028,515 (GRCm39) |
R628S |
possibly damaging |
Het |
| Nrcam |
C |
A |
12: 44,617,291 (GRCm39) |
P740T |
possibly damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,011,637 (GRCm39) |
V331I |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,013 (GRCm39) |
V157A |
probably benign |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,118 (GRCm39) |
V153A |
|
Het |
| Or5k1b |
T |
A |
16: 58,581,288 (GRCm39) |
N84Y |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,501,939 (GRCm39) |
N5S |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,377,122 (GRCm39) |
C239S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,733,337 (GRCm39) |
F479L |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,819,404 (GRCm39) |
F104I |
probably damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,204,039 (GRCm39) |
C58S |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,254,022 (GRCm39) |
V260A |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,433,439 (GRCm39) |
T1395A |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,144,570 (GRCm39) |
I95T |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,635,575 (GRCm39) |
V599A |
probably benign |
Het |
| Ttk |
A |
G |
9: 83,729,272 (GRCm39) |
S352G |
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Usp17le |
C |
T |
7: 104,418,555 (GRCm39) |
D196N |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,713 (GRCm39) |
F664L |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,478,618 (GRCm39) |
L43Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGACGTTTACAGCGATACC -3'
(R):5'- ACGAACATCACAGTGCTGAATG -3'
Sequencing Primer
(F):5'- CAGCGCTCAATGCTAATGGTG -3'
(R):5'- CAGTGCTGAATGGAAGCTACTACATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation