Incidental Mutation 'IGL03309:Or6c6'
ID 416477
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 # IGL03309
Quality Score
Status
Chromosome 10
Chromosomal Location 129186434-129187378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129187178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 249 (T249S)
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: T249S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000076282
Gene: ENSMUSG00000095075
AA Change: T249S

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: T249S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,303 (GRCm39) T334A possibly damaging Het
Armc9 A G 1: 86,202,155 (GRCm39) E771G possibly damaging Het
Cd207 G T 6: 83,654,735 (GRCm39) T16K possibly damaging Het
Cd44 C T 2: 102,644,522 (GRCm39) E421K probably damaging Het
Cfap221 A G 1: 119,862,331 (GRCm39) Y584H probably damaging Het
Clock A G 5: 76,379,241 (GRCm39) probably null Het
Clpx T G 9: 65,229,974 (GRCm39) L474R probably damaging Het
Cntd1 T C 11: 101,175,590 (GRCm39) V143A probably damaging Het
Cttnbp2 A G 6: 18,381,035 (GRCm39) V877A probably damaging Het
Dlx6 G T 6: 6,867,289 (GRCm39) M158I possibly damaging Het
Fank1 A G 7: 133,463,902 (GRCm39) T33A probably damaging Het
Fbf1 A G 11: 116,038,637 (GRCm39) L828P probably damaging Het
Fh1 A T 1: 175,431,609 (GRCm39) S426T probably benign Het
Gabrg3 G T 7: 56,632,433 (GRCm39) Q172K probably damaging Het
Glipr1l1 A G 10: 111,908,141 (GRCm39) probably benign Het
Hypk T A 2: 121,288,673 (GRCm39) L113* probably null Het
Hypk G T 2: 121,288,674 (GRCm39) L113F probably damaging Het
Ipo5 G A 14: 121,157,416 (GRCm39) V85I probably benign Het
Kif1a A T 1: 92,986,579 (GRCm39) Y575* probably null Het
Morf4l1 T A 9: 89,985,798 (GRCm39) E60V probably benign Het
Or52ac1 A G 7: 104,246,248 (GRCm39) F47L probably benign Het
Parp4 A T 14: 56,825,265 (GRCm39) T130S probably benign Het
Prkd1 A G 12: 50,435,207 (GRCm39) Y507H probably damaging Het
Psme2b A C 11: 48,836,626 (GRCm39) probably null Het
Rbm44 T C 1: 91,096,562 (GRCm39) probably null Het
Rngtt C A 4: 33,339,091 (GRCm39) R299S probably damaging Het
Ros1 A G 10: 51,994,357 (GRCm39) S1308P possibly damaging Het
Rpl3l A G 17: 24,954,998 (GRCm39) K398E possibly damaging Het
Scube3 C T 17: 28,383,331 (GRCm39) R374* probably null Het
Srcap A G 7: 127,129,965 (GRCm39) T616A probably damaging Het
Stk3 G A 15: 35,099,697 (GRCm39) probably benign Het
Tas2r124 A T 6: 132,731,898 (GRCm39) D69V probably benign Het
Zbtb41 T A 1: 139,359,816 (GRCm39) probably null Het
Other mutations in Or6c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Or6c6 APN 10 129,186,519 (GRCm39) missense probably damaging 1.00
IGL01469:Or6c6 APN 10 129,186,449 (GRCm39) missense probably benign
IGL01980:Or6c6 APN 10 129,187,386 (GRCm39) utr 3 prime probably benign
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 2016-08-02