Incidental Mutation 'R3919:Mrgprb1'
| ID |
306894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb1
|
| Ensembl Gene |
ENSMUSG00000070547 |
| Gene Name |
MAS-related GPR, member B1 |
| Synonyms |
MrgB1 |
| MMRRC Submission |
040817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R3919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48444113-48456342 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48448081 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 28
(K28E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094384]
[ENSMUST00000188095]
[ENSMUST00000188918]
|
| AlphaFold |
Q3UG61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094384
AA Change: K28E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: K28E
| 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
AA Change: K28E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140432
Gene: ENSMUSG00000070547
AA Change: K28E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
23 |
84 |
3e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
G |
T |
7: 44,230,428 (GRCm38) |
|
probably benign |
Het |
| 4930567H17Rik |
C |
T |
X: 70,394,529 (GRCm38) |
A53T |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,890,618 (GRCm38) |
M854T |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 3,961,764 (GRCm38) |
Y822* |
probably null |
Het |
| Apoe |
T |
C |
7: 19,696,547 (GRCm38) |
T257A |
probably benign |
Het |
| Atm |
C |
A |
9: 53,492,278 (GRCm38) |
A1365S |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,074,740 (GRCm38) |
S674P |
unknown |
Het |
| Cd177 |
T |
C |
7: 24,744,433 (GRCm38) |
S747G |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,380,223 (GRCm38) |
F91L |
possibly damaging |
Het |
| Chil4 |
A |
T |
3: 106,202,532 (GRCm38) |
N388K |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,951,080 (GRCm38) |
L3328F |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,186,509 (GRCm38) |
|
probably null |
Het |
| Ercc5 |
C |
A |
1: 44,161,931 (GRCm38) |
T217K |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,521,036 (GRCm38) |
|
probably benign |
Het |
| Ifih1 |
C |
A |
2: 62,623,501 (GRCm38) |
|
probably benign |
Het |
| Ints12 |
A |
T |
3: 133,100,683 (GRCm38) |
T124S |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 939,914 (GRCm38) |
L1022P |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 27,118,505 (GRCm38) |
N1803Y |
probably damaging |
Het |
| Lpcat2 |
C |
T |
8: 92,914,274 (GRCm38) |
T449I |
probably damaging |
Het |
| Ly6c2 |
A |
T |
15: 75,108,764 (GRCm38) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 70,779,422 (GRCm38) |
K1304E |
probably benign |
Het |
| Mdm4 |
T |
C |
1: 132,994,568 (GRCm38) |
K279E |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,742,750 (GRCm38) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,411,420 (GRCm38) |
I56F |
probably damaging |
Het |
| Myrip |
G |
A |
9: 120,432,629 (GRCm38) |
G436D |
probably damaging |
Het |
| Nr2e3 |
T |
A |
9: 59,943,440 (GRCm38) |
T379S |
probably damaging |
Het |
| Olfr1065 |
A |
G |
2: 86,445,418 (GRCm38) |
V188A |
probably benign |
Het |
| Plscr3 |
T |
A |
11: 69,847,410 (GRCm38) |
|
probably benign |
Het |
| Pola1 |
C |
A |
X: 93,461,472 (GRCm38) |
R1313L |
probably benign |
Het |
| Ppt2 |
T |
C |
17: 34,622,923 (GRCm38) |
N213S |
probably damaging |
Het |
| Prelid2 |
T |
A |
18: 41,937,675 (GRCm38) |
D31V |
possibly damaging |
Het |
| Psmb9 |
C |
T |
17: 34,183,614 (GRCm38) |
|
probably null |
Het |
| Rec8 |
A |
G |
14: 55,621,259 (GRCm38) |
T164A |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,510,347 (GRCm38) |
R654Q |
probably benign |
Het |
| Setdb2 |
T |
A |
14: 59,419,167 (GRCm38) |
I250F |
probably damaging |
Het |
| Slurp1 |
A |
T |
15: 74,726,810 (GRCm38) |
*111K |
probably null |
Het |
| Sphkap |
T |
G |
1: 83,276,458 (GRCm38) |
E903A |
probably damaging |
Het |
| Sst |
T |
C |
16: 23,889,841 (GRCm38) |
D80G |
possibly damaging |
Het |
| Stat4 |
C |
T |
1: 52,096,822 (GRCm38) |
T430I |
possibly damaging |
Het |
| Tmprss4 |
C |
T |
9: 45,180,666 (GRCm38) |
V174M |
probably benign |
Het |
| Trim6 |
A |
T |
7: 104,232,850 (GRCm38) |
Y436F |
probably damaging |
Het |
| Ttc28 |
C |
A |
5: 111,285,379 (GRCm38) |
A2093E |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,527,538 (GRCm38) |
N462D |
possibly damaging |
Het |
| Whrn |
G |
T |
4: 63,495,184 (GRCm38) |
S17* |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,399,115 (GRCm38) |
S1469R |
possibly damaging |
Het |
| Zfp108 |
T |
A |
7: 24,260,832 (GRCm38) |
C283S |
probably damaging |
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 |
|
IGL02430:Mrgprb1
|
APN |
7 |
48,447,661 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGGATGCTCAGACCACTAAG -3'
(R):5'- ACCAGTCTCCCTATTTTATGAACCTAG -3'
Sequencing Primer
(F):5'- CACTAAGGTAAGCAATGTTTAACACC -3'
(R):5'- GCAGAACTGAGATTGCAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation