Incidental Mutation 'R5555:Mrgprb1'
| ID |
435336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb1
|
| Ensembl Gene |
ENSMUSG00000070547 |
| Gene Name |
MAS-related GPR, member B1 |
| Synonyms |
MrgB1 |
| MMRRC Submission |
043112-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R5555 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
48093861-48106090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48097523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 130
(I130F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094384]
[ENSMUST00000188095]
[ENSMUST00000188918]
|
| AlphaFold |
Q3UG61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094384
AA Change: I130F
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: I130F
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg7 |
T |
C |
6: 114,679,014 (GRCm39) |
V366A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,702 (GRCm39) |
V192E |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,297,268 (GRCm39) |
S291N |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,951,320 (GRCm39) |
T118A |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,012,776 (GRCm39) |
T1837S |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,472,296 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 52,951,539 (GRCm39) |
V515A |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,109 (GRCm39) |
E272G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,825,236 (GRCm39) |
H1475Q |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,242,662 (GRCm39) |
S672P |
possibly damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,463 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,168 (GRCm39) |
V543E |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,531,145 (GRCm39) |
S4P |
probably benign |
Het |
| Kif2b |
G |
T |
11: 91,466,286 (GRCm39) |
Q666K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,414,110 (GRCm39) |
H762L |
probably benign |
Het |
| Map1s |
C |
T |
8: 71,369,751 (GRCm39) |
T941M |
probably damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,276,311 (GRCm39) |
V684G |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,270,508 (GRCm38) |
Q173* |
probably null |
Het |
| Plcb3 |
A |
T |
19: 6,943,587 (GRCm39) |
M104K |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,339,734 (GRCm39) |
Y1048* |
probably null |
Het |
| Ptprf |
T |
C |
4: 118,082,121 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Rab38 |
A |
G |
7: 88,079,695 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,347,921 (GRCm39) |
V210E |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,008 (GRCm39) |
Q447L |
probably benign |
Het |
| Scel |
G |
A |
14: 103,839,642 (GRCm39) |
R495K |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,584,304 (GRCm39) |
P1437Q |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,910,315 (GRCm39) |
D239G |
probably damaging |
Het |
| Skap2 |
A |
G |
6: 51,836,998 (GRCm39) |
Y356H |
probably damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,798 (GRCm39) |
T49A |
probably benign |
Het |
| Snx33 |
G |
A |
9: 56,832,681 (GRCm39) |
H463Y |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,727,544 (GRCm39) |
T264A |
possibly damaging |
Het |
| Stk40 |
T |
A |
4: 126,028,852 (GRCm39) |
V238E |
probably damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,328 (GRCm39) |
D277G |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,832,020 (GRCm39) |
|
probably null |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,347 (GRCm39) |
C87Y |
probably benign |
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 |
|
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 |
|
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'- GTCTTACACAAACCAGGGCC -3'
(R):5'- TGGAAATGCCACAGTGTTATGG -3'
Sequencing Primer
(F):5'- CCAGGGCCACTAGTGTAATATAG -3'
(R):5'- TTCCAGATGAGCAGGAATGCCTTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation