Incidental Mutation 'R7504:Or8c8'
ID 581675
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 045577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7504 (G1)
Quality Score 126.008
Status Validated
Chromosome 9
Chromosomal Location 38252774-38256549 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38254243 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 272 (K272N)
Ref Sequence ENSEMBL: ENSMUSP00000149842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093865] [ENSMUST00000213129]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000093865
AA Change: K275N

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000091388
Gene: ENSMUSG00000094778
AA Change: K275N

Pfam:7tm_4 34 310 1e-49 PFAM
Pfam:7tm_1 44 293 1.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213129
AA Change: K272N

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (43/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C G 17: 14,943,653 (GRCm38) A14G probably damaging Het
Btn1a1 A T 13: 23,461,716 (GRCm38) M161K probably benign Het
Camkk2 G A 5: 122,746,308 (GRCm38) T350I probably damaging Het
Cdc42bpg C A 19: 6,306,784 (GRCm38) D23E possibly damaging Het
Cdkn1a T C 17: 29,098,514 (GRCm38) L36P probably damaging Het
Dek A G 13: 47,088,035 (GRCm38) I351T probably damaging Het
Dst T C 1: 34,201,017 (GRCm38) Y1816H probably damaging Het
Efl1 T A 7: 82,683,049 (GRCm38) N300K probably damaging Het
Ephx2 A G 14: 66,101,617 (GRCm38) Y294H probably damaging Het
Fancd2 T A 6: 113,545,038 (GRCm38) I198N probably damaging Het
Grid1 G T 14: 35,562,513 (GRCm38) A738S probably damaging Het
Gsx2 G A 5: 75,076,399 (GRCm38) probably null Het
Hc G A 2: 35,061,319 (GRCm38) T22I not run Het
Hps1 T C 19: 42,766,720 (GRCm38) D261G probably benign Het
Ift80 T C 3: 68,918,005 (GRCm38) Y539C probably damaging Het
Insc G T 7: 114,791,298 (GRCm38) probably null Het
Isg15 T C 4: 156,200,045 (GRCm38) M9V probably damaging Het
Kalrn A G 16: 34,256,233 (GRCm38) L695P unknown Het
Nars1 A C 18: 64,512,022 (GRCm38) F52V probably benign Het
Nmt1 T G 11: 103,056,459 (GRCm38) F225V probably damaging Het
Or10q12 T A 19: 13,768,732 (GRCm38) I130N probably damaging Het
Or7a36 A G 10: 78,984,660 (GRCm38) Y290C possibly damaging Het
Pbx3 T C 2: 34,175,924 (GRCm38) T385A probably damaging Het
Pcdhb11 A T 18: 37,421,799 (GRCm38) T61S probably benign Het
Pramel40 G T 5: 94,317,047 (GRCm38) V431L probably benign Het
Rab11fip1 T C 8: 27,152,953 (GRCm38) E606G possibly damaging Het
Rnf216 A G 5: 143,075,759 (GRCm38) Y589H probably benign Het
Scara3 A G 14: 65,931,331 (GRCm38) I279T possibly damaging Het
Sdk2 T A 11: 113,867,967 (GRCm38) Y477F possibly damaging Het
Secisbp2l T C 2: 125,758,171 (GRCm38) K415E probably benign Het
Stag1 C T 9: 100,888,328 (GRCm38) T639I probably benign Het
Sv2b A T 7: 75,136,383 (GRCm38) F430I probably benign Het
Tenm2 C T 11: 36,139,743 (GRCm38) C743Y probably damaging Het
Tet2 C A 3: 133,487,339 (GRCm38) V445L probably benign Het
Tmem132c T C 5: 127,554,632 (GRCm38) S652P probably damaging Het
Togaram1 A G 12: 64,992,617 (GRCm38) D1155G possibly damaging Het
Traip T C 9: 107,961,544 (GRCm38) I169T probably benign Het
Trmt9b A C 8: 36,512,155 (GRCm38) N304T probably benign Het
Usp45 T G 4: 21,816,892 (GRCm38) M374R possibly damaging Het
Vmn2r81 A T 10: 79,268,332 (GRCm38) H263L probably benign Het
Wdr95 T C 5: 149,581,846 (GRCm38) V364A probably damaging Het
Zfp128 G A 7: 12,890,478 (GRCm38) D258N probably damaging Het
Zfp335 G A 2: 164,909,418 (GRCm38) T76I probably benign Het
Zfp688 C A 7: 127,419,311 (GRCm38) C214F probably damaging Het
Zfp760 T C 17: 21,722,674 (GRCm38) S277P probably damaging Het
Other mutations in Or8c8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02269:Or8c8 APN 9 38,253,936 (GRCm38) missense possibly damaging 0.82
R0417:Or8c8 UTSW 9 38,253,864 (GRCm38) missense probably benign 0.03
R1191:Or8c8 UTSW 9 38,254,205 (GRCm38) missense probably damaging 0.99
R1863:Or8c8 UTSW 9 38,253,720 (GRCm38) missense probably damaging 0.99
R1868:Or8c8 UTSW 9 38,253,690 (GRCm38) missense probably damaging 1.00
R2252:Or8c8 UTSW 9 38,253,830 (GRCm38) missense probably benign
R5128:Or8c8 UTSW 9 38,253,570 (GRCm38) missense probably damaging 1.00
R7254:Or8c8 UTSW 9 38,253,423 (GRCm38) missense probably benign 0.04
R7455:Or8c8 UTSW 9 38,254,254 (GRCm38) missense probably damaging 0.98
R7881:Or8c8 UTSW 9 38,254,110 (GRCm38) missense probably benign 0.31
R9324:Or8c8 UTSW 9 38,253,666 (GRCm38) missense probably benign 0.44
Z1176:Or8c8 UTSW 9 38,253,852 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-17