Incidental Mutation 'R5128:Or8c8'
ID 394864
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 042716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5128 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 38164715-38165656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38164866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 48 (L48P)
Ref Sequence ENSEMBL: ENSMUSP00000149842 (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: L51P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091388
Gene: ENSMUSG00000094778
AA Change: L51P

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: L48P
Predicted Effect probably damaging
Transcript: ENSMUST00000213129
AA Change: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (48/48)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,639,070 (GRCm39) S958P probably benign Het
Ahnak T C 19: 8,994,451 (GRCm39) L5245P probably damaging Het
Alg5 T A 3: 54,649,558 (GRCm39) probably null Het
Anapc1 A G 2: 128,501,837 (GRCm39) V735A probably benign Het
Arhgap45 A G 10: 79,866,793 (GRCm39) T1099A probably benign Het
Cacna1e A C 1: 154,277,767 (GRCm39) S2062A probably damaging Het
Chrna9 A G 5: 66,128,565 (GRCm39) S258G probably benign Het
Ctcfl T C 2: 172,959,189 (GRCm39) E179G probably benign Het
Dcdc2a C A 13: 25,286,512 (GRCm39) A145E probably damaging Het
Dgkz A G 2: 91,773,028 (GRCm39) I343T probably damaging Het
Dnah1 T C 14: 31,018,152 (GRCm39) probably null Het
Dqx1 T C 6: 83,037,548 (GRCm39) L374P probably damaging Het
Entpd5 A T 12: 84,441,464 (GRCm39) F101L probably benign Het
Esco1 A T 18: 10,567,468 (GRCm39) probably benign Het
Fgf1 C A 18: 38,975,078 (GRCm39) V124L probably benign Het
Gm16380 C T 9: 53,791,397 (GRCm39) noncoding transcript Het
Grid2 G A 6: 64,642,982 (GRCm39) A915T probably benign Het
Inhbc A T 10: 127,193,611 (GRCm39) M135K probably benign Het
Mertk C A 2: 128,580,167 (GRCm39) T207K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mtmr10 C T 7: 63,983,187 (GRCm39) T498I probably damaging Het
Muc17 A G 5: 137,167,034 (GRCm39) probably null Het
Nlrp1c-ps G T 11: 71,170,421 (GRCm39) noncoding transcript Het
Nphp4 T A 4: 152,587,448 (GRCm39) I267N probably benign Het
Obox8 A G 7: 14,066,015 (GRCm39) W168R probably damaging Het
Or2t48 A T 11: 58,420,248 (GRCm39) V188E probably damaging Het
Or4a74 A T 2: 89,439,647 (GRCm39) D266E probably damaging Het
Pafah1b1 A G 11: 74,570,262 (GRCm39) probably benign Het
Palld T C 8: 62,173,622 (GRCm39) T346A probably damaging Het
Pip4k2b A G 11: 97,609,702 (GRCm39) S412P probably benign Het
Potefam1 G A 2: 110,994,674 (GRCm39) Q251* probably null Het
Scn3a T C 2: 65,338,862 (GRCm39) S606G probably benign Het
Slc12a7 G T 13: 73,953,552 (GRCm39) S754I probably benign Het
Tep1 A G 14: 51,081,736 (GRCm39) *489R probably null Het
Tnn A T 1: 159,950,464 (GRCm39) V714E probably damaging Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Ttc16 T A 2: 32,653,009 (GRCm39) I550F probably benign Het
Vit T C 17: 78,932,575 (GRCm39) S561P probably damaging Het
Zdhhc1 T A 8: 106,210,268 (GRCm39) I50F probably benign Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp597 G A 16: 3,689,988 (GRCm39) probably benign 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
R1191:Or8c8 UTSW 9 38,165,501 (GRCm39) missense probably damaging 0.99
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
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'- CTCTTGGAGTAAATGATGGCTTATG -3'
(R):5'- ATAGGCCATGGCTGTCAACAC -3'

Sequencing Primer
(F):5'- AATGATGGCTTATGGGTTAATATTGC -3'
(R):5'- TGGCTGTCAACACATAACTCTCAGAG -3'
Posted On 2016-06-21