Incidental Mutation 'IGL02485:Mrgprb1'
ID |
295404 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrgprb1
|
Ensembl Gene |
ENSMUSG00000070547 |
Gene Name |
MAS-related GPR, member B1 |
Synonyms |
MrgB1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL02485
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
48093861-48106090 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 48097465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 149
(R149L)
|
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: R149L
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091946 Gene: ENSMUSG00000070547 AA Change: R149L
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,572,729 (GRCm39) |
S841P |
probably benign |
Het |
Cd59b |
A |
C |
2: 103,911,449 (GRCm39) |
|
probably benign |
Het |
Dop1b |
T |
C |
16: 93,567,710 (GRCm39) |
L1379P |
probably damaging |
Het |
Ercc2 |
G |
A |
7: 19,127,970 (GRCm39) |
A433T |
possibly damaging |
Het |
Gm17175 |
T |
C |
14: 51,807,068 (GRCm39) |
|
probably benign |
Het |
Gm5150 |
A |
T |
3: 16,044,916 (GRCm39) |
I103N |
probably damaging |
Het |
Igf1 |
A |
G |
10: 87,700,608 (GRCm39) |
M11V |
probably benign |
Het |
Incenp |
T |
C |
19: 9,870,732 (GRCm39) |
N299S |
unknown |
Het |
Maneal |
A |
T |
4: 124,750,563 (GRCm39) |
S398T |
probably damaging |
Het |
Map1a |
A |
G |
2: 121,129,769 (GRCm39) |
N195S |
probably damaging |
Het |
Mars2 |
T |
C |
1: 55,276,750 (GRCm39) |
F118L |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
Myo1d |
T |
C |
11: 80,557,407 (GRCm39) |
D511G |
probably damaging |
Het |
Ntan1 |
T |
C |
16: 13,652,540 (GRCm39) |
|
probably benign |
Het |
Nxf2 |
A |
G |
X: 133,857,216 (GRCm39) |
F158L |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,239,240 (GRCm39) |
|
probably null |
Het |
Or10g3b |
T |
A |
14: 52,587,501 (GRCm39) |
M1L |
possibly damaging |
Het |
Potefam1 |
A |
T |
2: 111,058,670 (GRCm39) |
V94E |
probably damaging |
Het |
Trpm1 |
C |
T |
7: 63,918,862 (GRCm39) |
A734V |
possibly damaging |
Het |
Upf2 |
G |
A |
2: 6,032,102 (GRCm39) |
E883K |
unknown |
Het |
Ush1c |
T |
C |
7: 45,878,674 (GRCm39) |
I83V |
probably damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,844,890 (GRCm39) |
T751N |
possibly damaging |
Het |
Zfp146 |
A |
G |
7: 29,862,015 (GRCm39) |
I9T |
probably benign |
Het |
Zfp592 |
G |
A |
7: 80,687,718 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
C |
T |
14: 20,761,955 (GRCm39) |
L243F |
probably damaging |
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 |
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 |
R1327:Mrgprb1
|
UTSW |
7 |
48,097,177 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |
|
Posted On |
2015-04-16 |