Incidental Mutation 'IGL02191:Mrgprb8'
ID |
283857 |
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 # |
IGL02191
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
48038274-48039396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 48038527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 66
(Y66C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056676]
|
AlphaFold |
Q7TN51 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056676
AA Change: Y66C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052230 Gene: ENSMUSG00000050870 AA Change: Y66C
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
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 |
2015-04-16 |