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) question?
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

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 37 219 3.9e-7 PFAM
low complexity region 302 327 N/A INTRINSIC
Meta Mutation Damage Score 0.6109 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 63.0%
Validation Efficiency 84% (92/109)
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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