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: 0.049)
|
| Stock # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48093861-48106090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48097409 bp (GRCm39)
|
| 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: 30,222,185 (GRCm39) |
E1249G |
probably benign |
Het |
| C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
| Clcnkb |
C |
A |
4: 141,136,701 (GRCm39) |
W388L |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
| Gpaa1 |
T |
C |
15: 76,216,388 (GRCm39) |
S36P |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,266,469 (GRCm39) |
C217S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
| Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,470,810 (GRCm39) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,305 (GRCm39) |
Y527H |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
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 |
|
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 |
|
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 |
Incidental Mutation