Incidental Mutation 'IGL01469:Or6c6'
ID 88192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c6
Ensembl Gene ENSMUSG00000095075
Gene Name olfactory receptor family 6 subfamily C member 6
Synonyms MOR110-8, GA_x6K02T2PULF-11031172-11032116, Olfr782
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01469
Quality Score
Status
Chromosome 10
Chromosomal Location 129186434-129187378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129186449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 6 (M6V)
Ref Sequence ENSEMBL: ENSMUSP00000150951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077024] [ENSMUST00000213970]
AlphaFold Q7TRI2
Predicted Effect probably benign
Transcript: ENSMUST00000077024
AA Change: M6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076282
Gene: ENSMUSG00000095075
AA Change: M6V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1e-48 PFAM
Pfam:7tm_1 39 288 8.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213970
AA Change: M6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,255,192 (GRCm39) Q204R possibly damaging Het
Actn2 C T 13: 12,325,796 (GRCm39) E60K possibly damaging Het
Alpk1 T C 3: 127,471,401 (GRCm39) probably null Het
Ccdc107 A G 4: 43,495,751 (GRCm39) N218S probably benign Het
Cdh23 A T 10: 60,433,504 (GRCm39) M60K probably benign Het
Cenpe A G 3: 134,934,567 (GRCm39) Q378R probably damaging Het
Dnaaf6rt A T 1: 31,262,510 (GRCm39) D164V probably damaging Het
Dnah8 T A 17: 30,902,688 (GRCm39) probably benign Het
Eif2b4 T C 5: 31,345,111 (GRCm39) D190G probably benign Het
Fmo5 A G 3: 97,558,884 (GRCm39) N448S probably benign Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Gbf1 A T 19: 46,267,803 (GRCm39) E1271V probably damaging Het
Ifitm6 A T 7: 140,596,725 (GRCm39) V16D probably damaging Het
Ighv2-4 A G 12: 113,616,966 (GRCm39) probably null Het
Kng2 T A 16: 22,818,577 (GRCm39) K305I probably damaging Het
Lrp1 C T 10: 127,420,283 (GRCm39) R900Q probably damaging Het
Maml1 A G 11: 50,157,353 (GRCm39) M274T probably damaging Het
Med23 A G 10: 24,758,495 (GRCm39) E278G probably damaging Het
Myo1h A G 5: 114,499,330 (GRCm39) T164A probably damaging Het
Ncoa2 A T 1: 13,257,093 (GRCm39) S135R probably benign Het
Nrbf2 A G 10: 67,105,919 (GRCm39) L41P probably damaging Het
Or10a48 A G 7: 108,424,534 (GRCm39) V224A probably benign Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Or1o11 T A 17: 37,756,426 (GRCm39) S5T probably benign Het
Or52e5 T A 7: 104,719,595 (GRCm39) M307K probably benign Het
Otoa T C 7: 120,754,496 (GRCm39) probably null Het
Plxnb1 T C 9: 108,934,483 (GRCm39) probably benign Het
Ppp1r42 A T 1: 10,073,458 (GRCm39) probably null Het
Rad54l2 T A 9: 106,599,957 (GRCm39) K100M probably damaging Het
Rnf112 T A 11: 61,342,167 (GRCm39) T308S possibly damaging Het
Scaper T C 9: 55,767,051 (GRCm39) D466G probably damaging Het
Sgsm2 T A 11: 74,744,697 (GRCm39) I796L possibly damaging Het
Shank3 T C 15: 89,405,477 (GRCm39) L476P probably damaging Het
Shkbp1 T C 7: 27,055,366 (GRCm39) T6A probably benign Het
Slc14a2 A T 18: 78,198,781 (GRCm39) I783N probably damaging Het
Stat1 A G 1: 52,186,529 (GRCm39) D447G possibly damaging Het
Tekt3 T G 11: 62,964,294 (GRCm39) I208S probably damaging Het
Tenm3 A T 8: 48,689,458 (GRCm39) V2043E probably damaging Het
Tgm3 T C 2: 129,866,414 (GRCm39) Y111H probably damaging Het
Tph2 T A 10: 114,915,664 (GRCm39) R459* probably null Het
Vmn2r109 T C 17: 20,761,671 (GRCm39) Y562C probably damaging Het
Other mutations in Or6c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Or6c6 APN 10 129,186,519 (GRCm39) missense probably damaging 1.00
IGL01980:Or6c6 APN 10 129,187,386 (GRCm39) utr 3 prime probably benign
IGL03309:Or6c6 APN 10 129,187,178 (GRCm39) missense probably benign 0.01
R0449:Or6c6 UTSW 10 129,187,103 (GRCm39) missense probably benign 0.00
R1994:Or6c6 UTSW 10 129,186,561 (GRCm39) missense probably damaging 1.00
R3121:Or6c6 UTSW 10 129,186,552 (GRCm39) missense possibly damaging 0.74
R6421:Or6c6 UTSW 10 129,187,370 (GRCm39) nonsense probably null
R7268:Or6c6 UTSW 10 129,187,263 (GRCm39) missense possibly damaging 0.60
R7399:Or6c6 UTSW 10 129,186,426 (GRCm39) start gained probably benign
R7647:Or6c6 UTSW 10 129,187,326 (GRCm39) missense probably benign
R8384:Or6c6 UTSW 10 129,186,695 (GRCm39) nonsense probably null
R8795:Or6c6 UTSW 10 129,187,194 (GRCm39) missense probably damaging 0.99
R9224:Or6c6 UTSW 10 129,186,450 (GRCm39) missense probably benign
R9375:Or6c6 UTSW 10 129,186,989 (GRCm39) missense probably damaging 1.00
R9478:Or6c6 UTSW 10 129,186,960 (GRCm39) missense possibly damaging 0.70
X0027:Or6c6 UTSW 10 129,187,202 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18