Incidental Mutation 'IGL02031:Mrgprb8'
ID |
184360 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mrgprb8
|
Ensembl Gene |
ENSMUSG00000050870 |
Gene Name |
MAS-related GPR, member B8 |
Synonyms |
MrgB8 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02031
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
48038274-48039396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48039087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 253
(M253V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056676]
|
AlphaFold |
Q7TN51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056676
AA Change: M253V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000052230 Gene: ENSMUSG00000050870 AA Change: M253V
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,921,028 (GRCm39) |
|
probably benign |
Het |
Akap11 |
T |
C |
14: 78,751,253 (GRCm39) |
D378G |
possibly damaging |
Het |
Ankrd33b |
A |
T |
15: 31,325,329 (GRCm39) |
F129L |
probably damaging |
Het |
Apob |
A |
G |
12: 8,065,222 (GRCm39) |
K4064E |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,302,656 (GRCm39) |
D506G |
probably damaging |
Het |
Arid4b |
A |
C |
13: 14,327,997 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,899,570 (GRCm39) |
Y1263N |
probably damaging |
Het |
Ckap5 |
T |
C |
2: 91,443,117 (GRCm39) |
L1697P |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,209,253 (GRCm39) |
F230S |
probably damaging |
Het |
Cpxm1 |
C |
T |
2: 130,235,601 (GRCm39) |
V464M |
probably damaging |
Het |
Dhrs7c |
A |
G |
11: 67,706,715 (GRCm39) |
E291G |
probably benign |
Het |
Dst |
C |
A |
1: 34,228,998 (GRCm39) |
P1872H |
possibly damaging |
Het |
G6pc2 |
G |
A |
2: 69,053,335 (GRCm39) |
A130T |
probably benign |
Het |
Gm4847 |
A |
G |
1: 166,462,578 (GRCm39) |
V304A |
probably damaging |
Het |
Gm8267 |
T |
C |
14: 44,955,374 (GRCm39) |
D155G |
possibly damaging |
Het |
Kank1 |
G |
A |
19: 25,388,066 (GRCm39) |
V580I |
probably benign |
Het |
Kcnh4 |
A |
G |
11: 100,636,649 (GRCm39) |
S757P |
probably damaging |
Het |
Krt34 |
C |
A |
11: 99,929,849 (GRCm39) |
A216S |
possibly damaging |
Het |
Mfhas1 |
A |
T |
8: 36,056,526 (GRCm39) |
I334F |
probably damaging |
Het |
Or52n4b |
A |
T |
7: 108,144,137 (GRCm39) |
H133L |
probably benign |
Het |
Pp2d1 |
T |
A |
17: 53,815,468 (GRCm39) |
T419S |
probably damaging |
Het |
Pprc1 |
T |
A |
19: 46,060,782 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
G |
5: 22,184,014 (GRCm39) |
S1662P |
probably damaging |
Het |
Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
Serinc2 |
C |
T |
4: 130,158,237 (GRCm39) |
W15* |
probably null |
Het |
Serpina3k |
A |
G |
12: 104,311,525 (GRCm39) |
T368A |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,129,289 (GRCm39) |
W54R |
probably damaging |
Het |
Slc9c1 |
G |
A |
16: 45,419,833 (GRCm39) |
S1001N |
probably benign |
Het |
Snapc3 |
A |
G |
4: 83,336,213 (GRCm39) |
D75G |
probably benign |
Het |
Spata31e2 |
A |
G |
1: 26,724,104 (GRCm39) |
Y359H |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,532,820 (GRCm39) |
S333P |
probably benign |
Het |
Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
|
Other mutations in Mrgprb8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R0890:Mrgprb8
|
UTSW |
7 |
48,038,777 (GRCm39) |
nonsense |
probably null |
|
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 |
|
|
Posted On |
2014-05-07 |