Incidental Mutation 'R1191:Or8c8'
ID 100815
Institutional Source Beutler Lab
Gene Symbol Or8c8
Ensembl Gene ENSMUSG00000094778
Gene Name olfactory receptor family 8 subfamily C member 8
Synonyms MOR170-6, Olfr143, GA_x6K02T2PVTD-31941084-31942025, K18
MMRRC Submission 039263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1191 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 38164715-38165656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38165501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 263 (V263F)
Ref Sequence ENSEMBL: ENSMUSP00000091388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093865] [ENSMUST00000212354] [ENSMUST00000213129]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000093865
AA Change: V263F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091388
Gene: ENSMUSG00000094778
AA Change: V263F

DomainStartEndE-ValueType
Pfam:7tm_4 34 310 1e-49 PFAM
Pfam:7tm_1 44 293 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212354
AA Change: V260F
Predicted Effect probably damaging
Transcript: ENSMUST00000213129
AA Change: V260F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.1%
  • 20x: 87.9%
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd27 T C 7: 35,301,912 (GRCm39) F144L probably damaging Het
C8b C T 4: 104,650,520 (GRCm39) P377S probably damaging Het
Cfi C A 3: 129,662,176 (GRCm39) T385N probably benign Het
Col15a1 G T 4: 47,254,083 (GRCm39) G300* probably null Het
Crlf1 G A 8: 70,951,478 (GRCm39) C119Y probably damaging Het
Dcaf4 A T 12: 83,582,741 (GRCm39) S279C probably damaging Het
Gde1 A T 7: 118,304,664 (GRCm39) H70Q probably damaging Het
Gpt2 A T 8: 86,235,901 (GRCm39) N179I probably damaging Het
Grik5 G A 7: 24,757,750 (GRCm39) Q410* probably null Het
Hspa2 C T 12: 76,452,655 (GRCm39) R450W probably damaging Het
Idh3b A T 2: 130,123,810 (GRCm39) M118K probably benign Het
Ighv5-21 T C 12: 114,286,423 (GRCm39) probably benign Het
Il12rb2 C T 6: 67,275,200 (GRCm39) V642M possibly damaging Het
Iqcg A G 16: 32,870,313 (GRCm39) V60A probably benign Het
Irx6 T A 8: 93,403,580 (GRCm39) Y102N probably damaging Het
Itgb6 C T 2: 60,483,481 (GRCm39) probably null Het
Mmp27 A T 9: 7,579,067 (GRCm39) probably null Het
Or10d5j A T 9: 39,868,264 (GRCm39) M1K probably null Het
Or1j21 T A 2: 36,683,350 (GRCm39) M34K probably damaging Het
Or2f2 C A 6: 42,767,451 (GRCm39) H159Q probably benign Het
Or5k8 T A 16: 58,644,922 (GRCm39) Y50F probably benign Het
Pcdhb16 A G 18: 37,612,926 (GRCm39) R629G probably damaging Het
Pde3b A T 7: 114,118,810 (GRCm39) M650L probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Skint3 T A 4: 112,092,939 (GRCm39) M1K probably null Het
Strn T C 17: 78,999,855 (GRCm39) Q127R possibly damaging Het
Taar2 T G 10: 23,816,927 (GRCm39) W156G probably damaging Het
Trpt1 G T 19: 6,974,138 (GRCm39) M45I probably benign Het
Ubap2l T C 3: 89,930,882 (GRCm39) T357A probably damaging Het
Ubr3 C T 2: 69,851,525 (GRCm39) R1831* probably null Het
Unc79 T A 12: 103,013,271 (GRCm39) Y287* probably null Het
Utrn T A 10: 12,509,777 (GRCm39) K2398N probably benign Het
Vav2 A T 2: 27,182,792 (GRCm39) probably null Het
Vps9d1 A T 8: 123,974,706 (GRCm39) H249Q possibly damaging Het
Vwf T A 6: 125,576,215 (GRCm39) C432S probably damaging Het
Zfp369 T A 13: 65,439,776 (GRCm39) Y153* probably null Het
Zfp760 C T 17: 21,942,286 (GRCm39) P487L probably damaging Het
Zswim2 A C 2: 83,754,039 (GRCm39) V207G possibly damaging Het
Other mutations in Or8c8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02269:Or8c8 APN 9 38,165,232 (GRCm39) missense possibly damaging 0.82
R0417:Or8c8 UTSW 9 38,165,160 (GRCm39) missense probably benign 0.03
R1863:Or8c8 UTSW 9 38,165,016 (GRCm39) missense probably damaging 0.99
R1868:Or8c8 UTSW 9 38,164,986 (GRCm39) missense probably damaging 1.00
R2252:Or8c8 UTSW 9 38,165,126 (GRCm39) missense probably benign
R5128:Or8c8 UTSW 9 38,164,866 (GRCm39) missense probably damaging 1.00
R7254:Or8c8 UTSW 9 38,164,719 (GRCm39) missense probably benign 0.04
R7455:Or8c8 UTSW 9 38,165,550 (GRCm39) missense probably damaging 0.98
R7504:Or8c8 UTSW 9 38,165,539 (GRCm39) missense possibly damaging 0.60
R7881:Or8c8 UTSW 9 38,165,406 (GRCm39) missense probably benign 0.31
R9324:Or8c8 UTSW 9 38,164,962 (GRCm39) missense probably benign 0.44
Z1176:Or8c8 UTSW 9 38,165,148 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTCACACAGGGTGTATGATCAGG -3'
(R):5'- CCGGAACTATGTGGCTAAAGGACAG -3'

Sequencing Primer
(F):5'- GCAGTAGCACCTATGTTAATGAGC -3'
(R):5'- CTATGTGGCTAAAGGACAGATTATG -3'
Posted On 2014-01-15