Incidental Mutation 'R1223:Mrgprb1'
| ID |
152799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb1
|
| Ensembl Gene |
ENSMUSG00000070547 |
| Gene Name |
MAS-related GPR, member B1 |
| Synonyms |
MrgB1 |
| MMRRC Submission |
039292-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R1223 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
48093861-48106090 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48097435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 159
(V159A)
|
| 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: V159A
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: V159A
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
T |
16: 4,116,612 (GRCm39) |
V873E |
probably damaging |
Het |
| Arl10 |
A |
G |
13: 54,726,744 (GRCm39) |
D174G |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,730 (GRCm39) |
Y592F |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,134,265 (GRCm39) |
E694G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,679,779 (GRCm39) |
Y163H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,070 (GRCm39) |
S421P |
possibly damaging |
Het |
| Cysltr2 |
A |
T |
14: 73,267,539 (GRCm39) |
V57E |
probably damaging |
Het |
| Ddx47 |
G |
A |
6: 134,989,277 (GRCm39) |
V34I |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,769,660 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
G |
T |
18: 20,706,550 (GRCm39) |
C22F |
probably benign |
Het |
| Gbp10 |
A |
C |
5: 105,366,867 (GRCm39) |
V455G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,103 (GRCm39) |
I797F |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,359,595 (GRCm39) |
V62E |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,557,838 (GRCm39) |
E58G |
probably benign |
Het |
| Mybphl |
A |
G |
3: 108,282,512 (GRCm39) |
T182A |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,773 (GRCm39) |
I123F |
probably benign |
Het |
| Or9m1 |
G |
A |
2: 87,733,163 (GRCm39) |
P286S |
probably damaging |
Het |
| Osr1 |
C |
T |
12: 9,629,699 (GRCm39) |
L191F |
probably damaging |
Het |
| Pip4k2b |
G |
A |
11: 97,609,720 (GRCm39) |
R406C |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,690,457 (GRCm39) |
L714F |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,755,670 (GRCm39) |
F1886S |
probably damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,306,277 (GRCm39) |
E32G |
probably damaging |
Het |
| Rnh1 |
A |
G |
7: 140,743,120 (GRCm39) |
L260P |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,975,282 (GRCm39) |
N175I |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,902,525 (GRCm39) |
I68F |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,387,515 (GRCm39) |
T325S |
probably damaging |
Het |
| Tcirg1 |
T |
C |
19: 3,948,733 (GRCm39) |
N484S |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,693,431 (GRCm39) |
M1833K |
possibly damaging |
Het |
| Thoc5 |
A |
G |
11: 4,871,922 (GRCm39) |
E449G |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,464 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCATAGGGCAGACCAAAGATCAG -3'
(R):5'- CTTCCAGATGAGCAGGAATGCCTTC -3'
Sequencing Primer
(F):5'- TGGTCACATACAACCTGGTCAC -3'
(R):5'- AACCTTGCTGGTGCTGAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation