Incidental Mutation 'IGL02430:Mrgprb1'
| ID |
293107 |
| 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: 0.050)
|
| Stock # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48444113-48456342 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48447661 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 168
(S168P)
|
| 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: S168P
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: S168P
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap33 |
T |
C |
7: 30,522,760 (GRCm38) |
E1249G |
probably benign |
Het |
| C8a |
G |
A |
4: 104,817,522 (GRCm38) |
T540I |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,409,390 (GRCm38) |
W388L |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,845,178 (GRCm38) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,874,751 (GRCm38) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,770,226 (GRCm38) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,771,971 (GRCm38) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,924,576 (GRCm38) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,056,308 (GRCm38) |
R198* |
probably null |
Het |
| Gpaa1 |
T |
C |
15: 76,332,188 (GRCm38) |
S36P |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,760,655 (GRCm38) |
V532A |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,437,401 (GRCm38) |
C217S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,413,414 (GRCm38) |
T191S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,799,401 (GRCm38) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 46,894,730 (GRCm38) |
I871V |
probably benign |
Het |
| Or11g24 |
A |
G |
14: 50,425,151 (GRCm38) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 108,395,722 (GRCm38) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,919,322 (GRCm38) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,582,573 (GRCm38) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,524,819 (GRCm38) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,910,280 (GRCm38) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,391 (GRCm38) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,029,286 (GRCm38) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 164,126,383 (GRCm38) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,153,163 (GRCm38) |
W901R |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,597,240 (GRCm38) |
Y527H |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,177,774 (GRCm38) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 16,114,910 (GRCm38) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,624,804 (GRCm38) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,986,662 (GRCm38) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,979,468 (GRCm38) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,387,570 (GRCm38) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,551,956 (GRCm38) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,002,482 (GRCm38) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,278,896 (GRCm38) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 78,934,645 (GRCm38) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,366,291 (GRCm38) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 14,901,800 (GRCm38) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,025,530 (GRCm38) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,195,139 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Mrgprb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Mrgprb1
|
APN |
7 |
48,447,543 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01141:Mrgprb1
|
APN |
7 |
48,448,027 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL01393:Mrgprb1
|
APN |
7 |
48,448,006 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL02485:Mrgprb1
|
APN |
7 |
48,447,717 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0026:Mrgprb1
|
UTSW |
7 |
48,447,204 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R0051:Mrgprb1
|
UTSW |
7 |
48,447,214 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0789:Mrgprb1
|
UTSW |
7 |
48,456,184 (GRCm38) |
splice site |
probably benign |
|
|
R1223:Mrgprb1
|
UTSW |
7 |
48,447,687 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1327:Mrgprb1
|
UTSW |
7 |
48,447,429 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1456:Mrgprb1
|
UTSW |
7 |
48,448,029 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1561:Mrgprb1
|
UTSW |
7 |
48,447,125 (GRCm38) |
splice site |
probably null |
|
|
R1567:Mrgprb1
|
UTSW |
7 |
48,447,453 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2030:Mrgprb1
|
UTSW |
7 |
48,447,328 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2165:Mrgprb1
|
UTSW |
7 |
48,447,322 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2885:Mrgprb1
|
UTSW |
7 |
48,447,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3108:Mrgprb1
|
UTSW |
7 |
48,447,328 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3919:Mrgprb1
|
UTSW |
7 |
48,448,081 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4021:Mrgprb1
|
UTSW |
7 |
48,447,123 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4613:Mrgprb1
|
UTSW |
7 |
48,447,708 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4809:Mrgprb1
|
UTSW |
7 |
48,447,991 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5249:Mrgprb1
|
UTSW |
7 |
48,447,477 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5425:Mrgprb1
|
UTSW |
7 |
48,447,971 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5555:Mrgprb1
|
UTSW |
7 |
48,447,775 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5595:Mrgprb1
|
UTSW |
7 |
48,447,684 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5982:Mrgprb1
|
UTSW |
7 |
48,447,820 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6746:Mrgprb1
|
UTSW |
7 |
48,447,897 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7066:Mrgprb1
|
UTSW |
7 |
48,447,676 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7141:Mrgprb1
|
UTSW |
7 |
48,447,687 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R7633:Mrgprb1
|
UTSW |
7 |
48,447,583 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8072:Mrgprb1
|
UTSW |
7 |
48,448,147 (GRCm38) |
nonsense |
probably null |
|
|
R8080:Mrgprb1
|
UTSW |
7 |
48,446,910 (GRCm38) |
splice site |
probably null |
|
|
R8112:Mrgprb1
|
UTSW |
7 |
48,447,934 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8493:Mrgprb1
|
UTSW |
7 |
48,447,573 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8817:Mrgprb1
|
UTSW |
7 |
48,447,322 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9135:Mrgprb1
|
UTSW |
7 |
48,447,298 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation