Incidental Mutation 'IGL01444:Or6c206'
ID 84341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c206
Ensembl Gene ENSMUSG00000095483
Gene Name olfactory receptor family 6 subfamily C member 206
Synonyms GA_x6K02T2PULF-10947193-10948131, MOR111-12, Olfr776
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL01444
Quality Score
Status
Chromosome 10
Chromosomal Location 129096832-129097770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129097204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 125 (C125S)
Ref Sequence ENSEMBL: ENSMUSP00000150656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073704] [ENSMUST00000204573] [ENSMUST00000213512]
AlphaFold Q7TRI3
Predicted Effect probably damaging
Transcript: ENSMUST00000073704
AA Change: C125S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073383
Gene: ENSMUSG00000095483
AA Change: C125S

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 8.3e-50 PFAM
Pfam:7tm_1 39 288 3.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204573
SMART Domains Protein: ENSMUSP00000145475
Gene: ENSMUSG00000062914

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 1.4e-42 PFAM
Pfam:7tm_1 38 287 1.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213512
AA Change: C125S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,146,183 (GRCm39) N517I probably damaging Het
Adam25 G A 8: 41,207,958 (GRCm39) R408H probably benign Het
Adam34l A T 8: 44,079,470 (GRCm39) D251E probably benign Het
Ang C A 14: 51,339,124 (GRCm39) Y88* probably null Het
Ankrd42 T C 7: 92,259,793 (GRCm39) T327A probably damaging Het
Birc6 A G 17: 74,938,682 (GRCm39) D2696G probably damaging Het
Chd3 G A 11: 69,239,568 (GRCm39) T1717M probably benign Het
Csmd1 T A 8: 16,250,069 (GRCm39) M970L probably benign Het
Dhx32 T C 7: 133,350,706 (GRCm39) I121M possibly damaging Het
Dnah11 G A 12: 117,983,967 (GRCm39) S2506F possibly damaging Het
Dscam T A 16: 96,474,909 (GRCm39) I1218F possibly damaging Het
Duox1 T C 2: 122,170,571 (GRCm39) L1197P probably damaging Het
Eps8l2 T C 7: 140,941,288 (GRCm39) probably benign Het
Exoc3 T C 13: 74,355,054 (GRCm39) K49R probably damaging Het
Exoc8 T A 8: 125,622,580 (GRCm39) T596S possibly damaging Het
F13a1 C T 13: 37,102,551 (GRCm39) G391R probably null Het
Fat3 A T 9: 15,910,144 (GRCm39) S1953T probably damaging Het
Gls2 C A 10: 128,037,216 (GRCm39) N252K probably damaging Het
Haus2 G A 2: 120,446,423 (GRCm39) R115K probably benign Het
Ift122 A G 6: 115,861,340 (GRCm39) K262E probably benign Het
Islr2 C T 9: 58,105,661 (GRCm39) C533Y probably damaging Het
Lrp2 A T 2: 69,274,060 (GRCm39) F3997I possibly damaging Het
Nt5c1a C T 4: 123,109,962 (GRCm39) R354W probably damaging Het
Pcolce A T 5: 137,605,738 (GRCm39) S200R probably damaging Het
Plec A G 15: 76,063,497 (GRCm39) V2213A possibly damaging Het
Prmt3 T A 7: 49,430,120 (GRCm39) D74E probably benign Het
Ptk7 A G 17: 46,876,313 (GRCm39) F1046S probably damaging Het
Ranbp2 T C 10: 58,311,122 (GRCm39) Y887H possibly damaging Het
Sanbr T G 11: 23,570,225 (GRCm39) probably benign Het
Sez6l2 G A 7: 126,561,055 (GRCm39) E447K possibly damaging Het
Shld2 C A 14: 33,959,514 (GRCm39) V823F probably damaging Het
Snrnp70 C T 7: 45,036,660 (GRCm39) probably null Het
Timm10 T A 2: 84,660,208 (GRCm39) V49E probably damaging Het
Tox2 T C 2: 163,067,386 (GRCm39) probably benign Het
Usp20 T A 2: 30,888,801 (GRCm39) M1K probably null Het
Usp32 A C 11: 84,949,990 (GRCm39) L223V probably damaging Het
Zeb1 G T 18: 5,767,906 (GRCm39) A806S probably damaging Het
Zeb1 T C 18: 5,767,138 (GRCm39) S550P probably benign Het
Other mutations in Or6c206
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01956:Or6c206 APN 10 129,096,911 (GRCm39) missense possibly damaging 0.88
IGL03299:Or6c206 APN 10 129,097,196 (GRCm39) missense probably benign 0.26
IGL03388:Or6c206 APN 10 129,097,312 (GRCm39) missense probably benign 0.00
IGL02802:Or6c206 UTSW 10 129,097,136 (GRCm39) splice site probably null
R1538:Or6c206 UTSW 10 129,097,082 (GRCm39) missense probably damaging 0.99
R3711:Or6c206 UTSW 10 129,097,093 (GRCm39) nonsense probably null
R3712:Or6c206 UTSW 10 129,097,093 (GRCm39) nonsense probably null
R4201:Or6c206 UTSW 10 129,097,646 (GRCm39) missense probably benign 0.19
R4202:Or6c206 UTSW 10 129,097,646 (GRCm39) missense probably benign 0.19
R4726:Or6c206 UTSW 10 129,097,045 (GRCm39) missense possibly damaging 0.84
R5029:Or6c206 UTSW 10 129,097,707 (GRCm39) missense probably benign 0.15
R5623:Or6c206 UTSW 10 129,096,901 (GRCm39) missense probably benign 0.17
R7566:Or6c206 UTSW 10 129,097,469 (GRCm39) missense probably damaging 1.00
R7678:Or6c206 UTSW 10 129,096,937 (GRCm39) missense probably damaging 0.98
R9149:Or6c206 UTSW 10 129,097,184 (GRCm39) missense probably damaging 1.00
R9291:Or6c206 UTSW 10 129,097,202 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-11