Incidental Mutation 'IGL01784:Or6c8'
ID 154229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c8
Ensembl Gene ENSMUSG00000059762
Gene Name olfactory receptor family 6 subfamily C member 8
Synonyms Olfr767, MOR115-1, GA_x6K02T2PULF-10765431-10764502
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL01784
Quality Score
Status
Chromosome 10
Chromosomal Location 128914901-128915830 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128915224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 203 (V203M)
Ref Sequence ENSEMBL: ENSMUSP00000150151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082131] [ENSMUST00000213579]
AlphaFold Q8VG33
Predicted Effect probably benign
Transcript: ENSMUST00000082131
AA Change: V203M

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080775
Gene: ENSMUSG00000059762
AA Change: V203M

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.9e-49 PFAM
Pfam:7tm_1 39 288 3.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213579
AA Change: V203M

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
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
2810021J22Rik C T 11: 58,771,445 (GRCm39) P309L possibly damaging Het
Abca4 A T 3: 121,932,154 (GRCm39) K269N probably benign Het
Abcb5 T C 12: 118,854,399 (GRCm39) T839A probably benign Het
Adcy7 A G 8: 89,040,751 (GRCm39) D30G probably damaging Het
Aldh3b1 A G 19: 3,971,217 (GRCm39) I149T probably benign Het
Ap3b1 A G 13: 94,630,247 (GRCm39) D199G probably damaging Het
Cplx3 T C 9: 57,527,847 (GRCm39) Y36C probably damaging Het
Ddo A G 10: 40,507,784 (GRCm39) probably benign Het
Ensa T A 3: 95,535,844 (GRCm39) probably benign Het
Etnppl A G 3: 130,425,427 (GRCm39) I405V possibly damaging Het
Fam171b T A 2: 83,710,031 (GRCm39) L568M possibly damaging Het
Fmn2 A G 1: 174,329,994 (GRCm39) D128G unknown Het
Fra10ac1 T A 19: 38,208,125 (GRCm39) H43L probably benign Het
Gm7589 T C 9: 59,053,310 (GRCm39) noncoding transcript Het
Gsx1 A G 5: 147,126,939 (GRCm39) D254G probably benign Het
Hoxb6 A G 11: 96,191,639 (GRCm39) E187G probably damaging Het
Kmt2c A T 5: 25,518,524 (GRCm39) I2385N probably damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Mccc1 T G 3: 36,030,897 (GRCm39) N390H probably damaging Het
Mphosph9 T C 5: 124,403,373 (GRCm39) probably benign Het
Nfic T C 10: 81,241,982 (GRCm39) D364G possibly damaging Het
Niban1 T A 1: 151,525,116 (GRCm39) Y174N probably damaging Het
Npy A G 6: 49,806,314 (GRCm39) probably benign Het
Osbpl3 A G 6: 50,321,902 (GRCm39) S75P probably damaging Het
Plekhg4 G T 8: 106,105,589 (GRCm39) A685S probably damaging Het
Pramel51 A G 12: 88,143,085 (GRCm39) Y178H probably benign Het
Prss53 T C 7: 127,485,724 (GRCm39) T539A probably benign Het
Rnf43 T A 11: 87,622,632 (GRCm39) S537T possibly damaging Het
Rpgrip1l G A 8: 91,997,089 (GRCm39) T597I possibly damaging Het
Rtn4 C A 11: 29,657,291 (GRCm39) Q482K probably damaging Het
Sema3g T C 14: 30,944,924 (GRCm39) I349T probably damaging Het
Sh3gl1 A C 17: 56,326,325 (GRCm39) S108A possibly damaging Het
Tmc7 A T 7: 118,146,538 (GRCm39) probably null Het
Tmem131 G A 1: 36,854,564 (GRCm39) T131I probably damaging Het
Vac14 T C 8: 111,397,800 (GRCm39) L505P probably benign Het
Wasf2 A G 4: 132,919,439 (GRCm39) Q231R unknown Het
Wnt7a A G 6: 91,342,839 (GRCm39) C348R probably damaging Het
Zkscan6 T A 11: 65,705,547 (GRCm39) L86Q probably damaging Het
Other mutations in Or6c8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01945:Or6c8 APN 10 128,915,172 (GRCm39) missense probably damaging 1.00
IGL02341:Or6c8 APN 10 128,915,330 (GRCm39) nonsense probably null
IGL02389:Or6c8 APN 10 128,915,099 (GRCm39) missense probably damaging 0.97
IGL02516:Or6c8 APN 10 128,915,662 (GRCm39) missense possibly damaging 0.95
IGL02755:Or6c8 APN 10 128,915,065 (GRCm39) missense probably benign 0.00
R0145:Or6c8 UTSW 10 128,915,232 (GRCm39) missense probably damaging 0.97
R0453:Or6c8 UTSW 10 128,915,640 (GRCm39) missense probably damaging 0.97
R0578:Or6c8 UTSW 10 128,915,062 (GRCm39) missense probably damaging 1.00
R1034:Or6c8 UTSW 10 128,915,830 (GRCm39) start codon destroyed probably benign 0.43
R1494:Or6c8 UTSW 10 128,915,484 (GRCm39) missense probably damaging 1.00
R1941:Or6c8 UTSW 10 128,915,823 (GRCm39) missense probably damaging 0.99
R3707:Or6c8 UTSW 10 128,915,254 (GRCm39) missense probably benign 0.31
R5405:Or6c8 UTSW 10 128,915,265 (GRCm39) missense probably damaging 0.99
R5716:Or6c8 UTSW 10 128,915,424 (GRCm39) missense probably benign 0.00
R8224:Or6c8 UTSW 10 128,915,304 (GRCm39) missense possibly damaging 0.90
R9680:Or6c8 UTSW 10 128,915,358 (GRCm39) missense probably benign 0.02
Z1177:Or6c8 UTSW 10 128,915,921 (GRCm39) critical splice acceptor site probably benign
Posted On 2014-02-04