Incidental Mutation 'R0890:Mrgprb8'
ID |
83468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrgprb8
|
Ensembl Gene |
ENSMUSG00000050870 |
Gene Name |
MAS-related GPR, member B8 |
Synonyms |
MrgB8 |
MMRRC Submission |
039053-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0890 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
48038274-48039396 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 48038777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 149
(C149*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056676]
|
AlphaFold |
Q7TN51 |
Predicted Effect |
probably null
Transcript: ENSMUST00000056676
AA Change: C149*
|
SMART Domains |
Protein: ENSMUSP00000052230 Gene: ENSMUSG00000050870 AA Change: C149*
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
37 |
219 |
3.9e-7 |
PFAM |
low complexity region
|
302 |
327 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
Het |
|
Other mutations in Mrgprb8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02031:Mrgprb8
|
APN |
7 |
48,039,087 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02191:Mrgprb8
|
APN |
7 |
48,038,527 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02449:Mrgprb8
|
APN |
7 |
48,038,431 (GRCm39) |
nonsense |
probably null |
|
IGL02724:Mrgprb8
|
APN |
7 |
48,039,121 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02927:Mrgprb8
|
APN |
7 |
48,038,373 (GRCm39) |
nonsense |
probably null |
|
astroclast1
|
UTSW |
7 |
48,038,892 (GRCm39) |
missense |
probably benign |
0.05 |
A4554:Mrgprb8
|
UTSW |
7 |
48,039,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R0676:Mrgprb8
|
UTSW |
7 |
48,038,412 (GRCm39) |
missense |
probably benign |
|
R2094:Mrgprb8
|
UTSW |
7 |
48,038,953 (GRCm39) |
missense |
probably benign |
0.16 |
R2102:Mrgprb8
|
UTSW |
7 |
48,038,634 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4839:Mrgprb8
|
UTSW |
7 |
48,038,656 (GRCm39) |
missense |
probably benign |
0.18 |
R5370:Mrgprb8
|
UTSW |
7 |
48,038,568 (GRCm39) |
missense |
probably benign |
0.00 |
R5471:Mrgprb8
|
UTSW |
7 |
48,038,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R5548:Mrgprb8
|
UTSW |
7 |
48,038,778 (GRCm39) |
missense |
probably benign |
0.29 |
R6165:Mrgprb8
|
UTSW |
7 |
48,038,565 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6199:Mrgprb8
|
UTSW |
7 |
48,039,051 (GRCm39) |
missense |
probably benign |
0.00 |
R6315:Mrgprb8
|
UTSW |
7 |
48,038,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R6797:Mrgprb8
|
UTSW |
7 |
48,038,892 (GRCm39) |
missense |
probably benign |
0.05 |
R6924:Mrgprb8
|
UTSW |
7 |
48,038,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8219:Mrgprb8
|
UTSW |
7 |
48,038,649 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8489:Mrgprb8
|
UTSW |
7 |
48,038,701 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8806:Mrgprb8
|
UTSW |
7 |
48,038,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9146:Mrgprb8
|
UTSW |
7 |
48,039,200 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCAACCTGTCTGGGGCAAAC -3'
(R):5'- GTCTGCTGTGAACCACAGAAGACC -3'
Sequencing Primer
(F):5'- TCCCTGGAAAATCTCATTAGGCAG -3'
(R):5'- ACCCTGAACAGCAGGGC -3'
|
Posted On |
2013-11-08 |