Incidental Mutation 'IGL01627:Or6c5'
ID 92790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c5
Ensembl Gene ENSMUSG00000096229
Gene Name olfactory receptor family 6 subfamily C member 5
Synonyms Olfr774, MOR111-2, GA_x6K02T2PULF-10924432-10925370, MOR111-11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01627
Quality Score
Status
Chromosome 10
Chromosomal Location 129074020-129074958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129074138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 40 (N40I)
Ref Sequence ENSEMBL: ENSMUSP00000145042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097164] [ENSMUST00000203248]
AlphaFold Q7TRI5
Predicted Effect probably damaging
Transcript: ENSMUST00000097164
AA Change: N40I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131609
Gene: ENSMUSG00000096229
AA Change: N40I

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 6e-49 PFAM
Pfam:7tm_1 39 288 2.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203248
AA Change: N40I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145042
Gene: ENSMUSG00000096229
AA Change: N40I

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 6e-49 PFAM
Pfam:7tm_1 39 288 2.2e-18 PFAM
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Casp9 T C 4: 141,532,853 (GRCm39) probably benign Het
Ccdc186 G A 19: 56,780,452 (GRCm39) T864I probably damaging Het
Cgas A T 9: 78,349,996 (GRCm39) V57E possibly damaging Het
Chek1 T A 9: 36,635,191 (GRCm39) H64L probably damaging Het
Chsy3 T C 18: 59,309,367 (GRCm39) S207P probably damaging Het
Clec4n A G 6: 123,221,433 (GRCm39) probably benign Het
Col9a1 G A 1: 24,218,689 (GRCm39) probably null Het
Dgkd A G 1: 87,808,150 (GRCm39) R73G probably damaging Het
Dmbt1 A T 7: 130,682,915 (GRCm39) T562S probably benign Het
Epb42 T C 2: 120,856,324 (GRCm39) T407A probably benign Het
Eps8l3 A G 3: 107,788,487 (GRCm39) D58G probably damaging Het
Fuca1 A T 4: 135,652,862 (GRCm39) N162I possibly damaging Het
Gramd1a T C 7: 30,839,221 (GRCm39) D229G probably damaging Het
Grin1 A G 2: 25,208,709 (GRCm39) S64P probably damaging Het
Hgd T G 16: 37,442,287 (GRCm39) V243G probably damaging Het
Il23r A T 6: 67,400,412 (GRCm39) N639K probably benign Het
Il33 A G 19: 29,929,390 (GRCm39) T38A possibly damaging Het
Mycbpap T C 11: 94,405,430 (GRCm39) E33G probably damaging Het
Npas1 C T 7: 16,199,111 (GRCm39) G148D probably damaging Het
Ntan1 C T 16: 13,652,603 (GRCm39) T233M probably benign Het
Plscr1l1 A T 9: 92,229,864 (GRCm39) I23F probably damaging Het
Pou2f1 A T 1: 165,708,002 (GRCm39) probably benign Het
Rims4 T C 2: 163,706,022 (GRCm39) Y204C probably damaging Het
Selp A G 1: 163,971,461 (GRCm39) probably null Het
Senp7 A G 16: 55,992,219 (GRCm39) E725G probably damaging Het
Snx31 A T 15: 36,517,818 (GRCm39) F366Y probably damaging Het
Spats2l A G 1: 57,941,241 (GRCm39) probably benign Het
Tssk4 T C 14: 55,888,010 (GRCm39) F69L probably damaging Het
Ugt3a1 T C 15: 9,335,806 (GRCm39) L9P probably damaging Het
Vmn2r76 A T 7: 85,874,871 (GRCm39) I702N probably damaging Het
Vps18 C A 2: 119,127,672 (GRCm39) R832S probably benign Het
Xpo6 A G 7: 125,748,506 (GRCm39) L375P probably damaging Het
Zfp462 C A 4: 55,008,912 (GRCm39) P293T possibly damaging Het
Zyg11b T C 4: 108,107,985 (GRCm39) I474V probably benign Het
Other mutations in Or6c5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Or6c5 APN 10 129,074,476 (GRCm39) missense probably benign 0.00
IGL01678:Or6c5 APN 10 129,074,537 (GRCm39) missense possibly damaging 0.94
IGL01759:Or6c5 APN 10 129,074,941 (GRCm39) missense probably benign 0.13
IGL03261:Or6c5 APN 10 129,074,272 (GRCm39) missense possibly damaging 0.72
R1996:Or6c5 UTSW 10 129,074,298 (GRCm39) missense possibly damaging 0.89
R2103:Or6c5 UTSW 10 129,074,368 (GRCm39) missense probably damaging 0.99
R2104:Or6c5 UTSW 10 129,074,368 (GRCm39) missense probably damaging 0.99
R2330:Or6c5 UTSW 10 129,074,908 (GRCm39) nonsense probably null
R3977:Or6c5 UTSW 10 129,074,377 (GRCm39) missense probably damaging 1.00
R4544:Or6c5 UTSW 10 129,074,027 (GRCm39) missense probably damaging 0.96
R6058:Or6c5 UTSW 10 129,074,329 (GRCm39) missense probably damaging 0.97
R8176:Or6c5 UTSW 10 129,074,747 (GRCm39) missense probably benign 0.39
R8708:Or6c5 UTSW 10 129,074,678 (GRCm39) missense possibly damaging 0.92
R9476:Or6c5 UTSW 10 129,074,656 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09