Incidental Mutation 'R2885:Mrgprb1'
| ID |
261007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb1
|
| Ensembl Gene |
ENSMUSG00000070547 |
| Gene Name |
MAS-related GPR, member B1 |
| Synonyms |
MrgB1 |
| MMRRC Submission |
040473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2885 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48444113-48456342 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48447721 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 148
(Y148N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094384]
[ENSMUST00000188095]
[ENSMUST00000188918]
|
| AlphaFold |
Q3UG61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094384
AA Change: Y148N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091946
Gene: ENSMUSG00000070547
AA Change: Y148N
| 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 |
|
| Meta Mutation Damage Score |
0.9126 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 81,100,192 (GRCm38) |
S1453G |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,360,843 (GRCm38) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm38) |
H108L |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,142,883 (GRCm38) |
F142S |
probably damaging |
Het |
| Cmip |
A |
G |
8: 117,384,965 (GRCm38) |
N145S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm38) |
|
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,635,652 (GRCm38) |
D287N |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,545,464 (GRCm38) |
R172* |
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,987,427 (GRCm38) |
Q1145* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,689,766 (GRCm38) |
I659N |
probably damaging |
Het |
| Dync2h1 |
G |
C |
9: 7,102,329 (GRCm38) |
F2690L |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,457,391 (GRCm38) |
Y566C |
probably damaging |
Het |
| Gm5434 |
A |
G |
12: 36,090,575 (GRCm38) |
|
probably benign |
Het |
| Ift57 |
T |
C |
16: 49,763,751 (GRCm38) |
V289A |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 97,034,980 (GRCm38) |
R219C |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 17,026,445 (GRCm38) |
N269S |
probably benign |
Het |
| Mzt2 |
G |
T |
16: 15,862,916 (GRCm38) |
A3E |
unknown |
Het |
| Naif1 |
C |
T |
2: 32,454,875 (GRCm38) |
P197L |
probably benign |
Het |
| Obscn |
A |
T |
11: 59,086,748 (GRCm38) |
V1959E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,131,646 (GRCm38) |
R758G |
possibly damaging |
Het |
| Phf12 |
T |
C |
11: 78,023,769 (GRCm38) |
I130T |
possibly damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,564,961 (GRCm38) |
V338A |
probably benign |
Het |
| Prl3b1 |
A |
T |
13: 27,249,522 (GRCm38) |
N220I |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,456 (GRCm38) |
Q254R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 29,074,798 (GRCm38) |
R2404S |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,340,195 (GRCm38) |
I463T |
probably benign |
Het |
| Setx |
T |
G |
2: 29,148,625 (GRCm38) |
C1707W |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 131,072,747 (GRCm38) |
F1483S |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,909,173 (GRCm38) |
P1515S |
probably benign |
Het |
| Sit1 |
C |
T |
4: 43,483,314 (GRCm38) |
R50H |
possibly damaging |
Het |
| Smc6 |
T |
C |
12: 11,276,293 (GRCm38) |
V97A |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,216,715 (GRCm38) |
S268G |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,739,361 (GRCm38) |
|
probably null |
Het |
| Vmn2r60 |
T |
A |
7: 42,140,979 (GRCm38) |
D463E |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,105,366 (GRCm38) |
Y82F |
probably benign |
Het |
| Zfp709 |
A |
T |
8: 71,889,705 (GRCm38) |
D325V |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,289,693 (GRCm38) |
D58E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTGGATCCCAAGAGAACC -3'
(R):5'- ACATCCTCAACCTTGCTGG -3'
Sequencing Primer
(F):5'- GATCCCAAGAGAACCACAAATAAAAC -3'
(R):5'- GCTGACTTTGTCTTCATGTGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation