Incidental Mutation 'A4554:Mrgprb8'
ID |
100 |
Institutional Source |
Beutler Lab
|
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 # |
A4554
of strain
gemini
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
48038274-48039396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48039156 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 276
(I276F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056676]
|
AlphaFold |
Q7TN51 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056676
AA Change: I276F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052230 Gene: ENSMUSG00000050870 AA Change: I276F
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
37 |
219 |
3.9e-7 |
PFAM |
low complexity region
|
302 |
327 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6109 |
Coding Region Coverage |
|
Validation Efficiency |
84% (92/109) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap1 |
T |
C |
15: 63,996,560 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
A |
T |
2: 154,069,100 (GRCm39) |
Y139F |
possibly damaging |
Homo |
Chd2 |
A |
C |
7: 73,130,716 (GRCm39) |
V782G |
probably benign |
Homo |
Chst4 |
G |
T |
8: 110,756,520 (GRCm39) |
Q448K |
probably benign |
Homo |
Dido1 |
T |
C |
2: 180,317,164 (GRCm39) |
K8E |
probably damaging |
Homo |
Evpl |
A |
G |
11: 116,111,660 (GRCm39) |
L2010P |
probably damaging |
Homo |
Fgl2 |
A |
G |
5: 21,577,776 (GRCm39) |
E21G |
probably benign |
Homo |
Greb1l |
A |
T |
18: 10,532,862 (GRCm39) |
M919L |
possibly damaging |
Homo |
Kel |
T |
A |
6: 41,674,353 (GRCm39) |
D359V |
possibly damaging |
Homo |
Lmtk2 |
A |
G |
5: 144,103,135 (GRCm39) |
D298G |
possibly damaging |
Homo |
Masp1 |
A |
T |
16: 23,273,690 (GRCm39) |
|
probably null |
Homo |
Nde1 |
T |
C |
16: 14,006,274 (GRCm39) |
|
probably benign |
Homo |
Rbck1 |
G |
T |
2: 152,161,092 (GRCm39) |
N385K |
probably damaging |
Homo |
Senp6 |
G |
T |
9: 80,055,740 (GRCm39) |
|
probably benign |
Het |
Tm4sf4 |
T |
A |
3: 57,345,188 (GRCm39) |
|
probably null |
Homo |
Ubn2 |
A |
T |
6: 38,461,045 (GRCm39) |
H488L |
probably damaging |
Homo |
Vmn2r120 |
A |
G |
17: 57,832,715 (GRCm39) |
F155L |
probably benign |
Homo |
Vmn2r65 |
T |
A |
7: 84,595,791 (GRCm39) |
T298S |
probably damaging |
Homo |
|
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 |
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 |
|
|
Nature of Mutation |
DNA sequencing using the SOLiD technique identified an A to T transversion at position 883 of the Mrgprb8 transcript. The mutated nucleotide causes an isoleucine to phenylalanine substitution at amino acid 276 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
Protein Function and Prediction |
The Mrgprb8 gene encodes a 330 amino acid protein that belongs to the G-protein coupled receptor (GPCR) 1 family and the Mas subfamily. This is an orphan receptor that is probably involved in the function of nociceptive neurons, and may regulate the sensation or modulation of pain. Like all GPCRs, MRGPRB8 has seven transmembrane domains (Uniprot Q7TN51).
The I276F change is located in the seventh transmembrane domain, and is predicted to be probably damaging by the PolyPhen program.
|
Posted On |
2010-03-16 |