Incidental Mutation 'R1327:Mrgprb1'
ID |
157245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrgprb1
|
Ensembl Gene |
ENSMUSG00000070547 |
Gene Name |
MAS-related GPR, member B1 |
Synonyms |
MrgB1 |
MMRRC Submission |
039393-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R1327 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
48093861-48106090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48097177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 245
(I245N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094384]
[ENSMUST00000188095]
[ENSMUST00000188918]
|
AlphaFold |
Q3UG61 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094384
AA Change: I245N
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091946 Gene: ENSMUSG00000070547 AA Change: I245N
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
50 |
227 |
5.5e-11 |
PFAM |
Pfam:7tm_1
|
59 |
290 |
4.3e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188095
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188918
|
SMART Domains |
Protein: ENSMUSP00000140432 Gene: ENSMUSG00000070547
Domain | Start | End | E-Value | Type |
SCOP:d1l9ha_
|
23 |
84 |
3e-6 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf111 |
A |
T |
9: 70,361,098 (GRCm39) |
D454E |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mrgprb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00540:Mrgprb1
|
APN |
7 |
48,097,291 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01141:Mrgprb1
|
APN |
7 |
48,097,775 (GRCm39) |
missense |
probably benign |
0.36 |
IGL01393:Mrgprb1
|
APN |
7 |
48,097,754 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02430:Mrgprb1
|
APN |
7 |
48,097,409 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02485:Mrgprb1
|
APN |
7 |
48,097,465 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0026:Mrgprb1
|
UTSW |
7 |
48,096,952 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0051:Mrgprb1
|
UTSW |
7 |
48,096,962 (GRCm39) |
missense |
probably benign |
0.01 |
R0789:Mrgprb1
|
UTSW |
7 |
48,105,932 (GRCm39) |
splice site |
probably benign |
|
R1223:Mrgprb1
|
UTSW |
7 |
48,097,435 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1456:Mrgprb1
|
UTSW |
7 |
48,097,777 (GRCm39) |
missense |
probably damaging |
0.98 |
R1561:Mrgprb1
|
UTSW |
7 |
48,096,873 (GRCm39) |
splice site |
probably null |
|
R1567:Mrgprb1
|
UTSW |
7 |
48,097,201 (GRCm39) |
missense |
probably damaging |
0.97 |
R2030:Mrgprb1
|
UTSW |
7 |
48,097,076 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2165:Mrgprb1
|
UTSW |
7 |
48,097,070 (GRCm39) |
missense |
probably benign |
0.00 |
R2885:Mrgprb1
|
UTSW |
7 |
48,097,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R3108:Mrgprb1
|
UTSW |
7 |
48,097,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3919:Mrgprb1
|
UTSW |
7 |
48,097,829 (GRCm39) |
missense |
probably benign |
0.03 |
R4021:Mrgprb1
|
UTSW |
7 |
48,096,871 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4613:Mrgprb1
|
UTSW |
7 |
48,097,456 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4809:Mrgprb1
|
UTSW |
7 |
48,097,739 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5249:Mrgprb1
|
UTSW |
7 |
48,097,225 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5425:Mrgprb1
|
UTSW |
7 |
48,097,719 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5555:Mrgprb1
|
UTSW |
7 |
48,097,523 (GRCm39) |
missense |
probably benign |
0.06 |
R5595:Mrgprb1
|
UTSW |
7 |
48,097,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R5982:Mrgprb1
|
UTSW |
7 |
48,097,568 (GRCm39) |
missense |
probably benign |
0.01 |
R6746:Mrgprb1
|
UTSW |
7 |
48,097,645 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7066:Mrgprb1
|
UTSW |
7 |
48,097,424 (GRCm39) |
missense |
probably benign |
0.27 |
R7141:Mrgprb1
|
UTSW |
7 |
48,097,435 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7633:Mrgprb1
|
UTSW |
7 |
48,097,331 (GRCm39) |
missense |
probably benign |
0.01 |
R8072:Mrgprb1
|
UTSW |
7 |
48,097,895 (GRCm39) |
nonsense |
probably null |
|
R8080:Mrgprb1
|
UTSW |
7 |
48,096,658 (GRCm39) |
splice site |
probably null |
|
R8112:Mrgprb1
|
UTSW |
7 |
48,097,682 (GRCm39) |
missense |
probably damaging |
0.97 |
R8493:Mrgprb1
|
UTSW |
7 |
48,097,321 (GRCm39) |
missense |
probably damaging |
0.99 |
R8817:Mrgprb1
|
UTSW |
7 |
48,097,070 (GRCm39) |
missense |
probably benign |
0.01 |
R9135:Mrgprb1
|
UTSW |
7 |
48,097,046 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTGAGAGTCTTCCGTTGAAACC -3'
(R):5'- ACTGTCATTAGCACTGAACGCTTCC -3'
Sequencing Primer
(F):5'- TTGAAACCGATGGTGCCTAATG -3'
(R):5'- GGAATGTGGCTTCCTATATTACAC -3'
|
Posted On |
2014-02-18 |