Incidental Mutation 'IGL01025:Or6c205'
ID 60181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c205
Ensembl Gene ENSMUSG00000096220
Gene Name olfactory receptor family 6 subfamily C member 205
Synonyms Olfr1518, MOR111-6, MOR111-7, MOR111-7, GA_x6K02T2PULF-10936819-10937757, Olfr775
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01025
Quality Score
Status
Chromosome 10
Chromosomal Location 129086405-129087343 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129086609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 69 (I69F)
Ref Sequence ENSEMBL: ENSMUSP00000150345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097163] [ENSMUST00000214109]
AlphaFold Q7TRI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000097163
AA Change: I69F

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132845
Gene: ENSMUSG00000096220
AA Change: I69F

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 9.9e-52 PFAM
Pfam:7tm_1 39 288 9.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214109
AA Change: I69F

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 G A 4: 155,986,676 (GRCm39) V335M probably damaging Het
Apex1 C T 14: 51,163,711 (GRCm39) L113F possibly damaging Het
Bltp1 T A 3: 37,100,429 (GRCm39) H1218Q possibly damaging Het
Cd33 C T 7: 43,182,329 (GRCm39) V39M probably damaging Het
Chek2 A G 5: 110,996,536 (GRCm39) D166G probably damaging Het
Col2a1 T C 15: 97,874,054 (GRCm39) K1376R unknown Het
Cpd C T 11: 76,686,439 (GRCm39) R963H probably damaging Het
Cracd A G 5: 76,805,921 (GRCm39) probably benign Het
Cyp2c67 A C 19: 39,628,376 (GRCm39) Y189* probably null Het
Dock6 T C 9: 21,723,103 (GRCm39) E1606G possibly damaging Het
Dusp4 A T 8: 35,285,666 (GRCm39) E309V probably benign Het
Dync2h1 A G 9: 7,162,789 (GRCm39) I600T probably damaging Het
Fer1l4 A G 2: 155,894,105 (GRCm39) V66A probably benign Het
Fktn T C 4: 53,737,568 (GRCm39) L269P possibly damaging Het
Ftsj3 A G 11: 106,141,185 (GRCm39) I645T probably damaging Het
Fxr2 A G 11: 69,534,713 (GRCm39) H198R probably damaging Het
Fzd7 T C 1: 59,523,539 (GRCm39) V474A probably damaging Het
Gm10295 T A 7: 71,000,406 (GRCm39) D58V unknown Het
Hdlbp T C 1: 93,357,891 (GRCm39) I337V probably benign Het
Hydin T C 8: 111,053,033 (GRCm39) V235A probably benign Het
Igfbp4 C T 11: 98,939,069 (GRCm39) H30Y probably damaging Het
Kcna4 T C 2: 107,126,736 (GRCm39) V490A probably damaging Het
Kcnj13 T G 1: 87,314,700 (GRCm39) D174A probably benign Het
Krt7 T A 15: 101,321,302 (GRCm39) L373Q probably benign Het
Lama3 G A 18: 12,614,094 (GRCm39) V1288I probably benign Het
Mroh9 T C 1: 162,875,435 (GRCm39) D488G possibly damaging Het
Myh7 T C 14: 55,216,994 (GRCm39) E1121G probably damaging Het
Myom1 A G 17: 71,384,912 (GRCm39) N768D probably damaging Het
Naa16 T C 14: 79,622,196 (GRCm39) T48A probably damaging Het
Naglu C T 11: 100,964,773 (GRCm39) P287S probably benign Het
Nipbl A G 15: 8,379,939 (GRCm39) V951A possibly damaging Het
Nlrp3 T A 11: 59,442,713 (GRCm39) M755K probably benign Het
Nlrp4e T C 7: 23,052,586 (GRCm39) probably benign Het
Nt5dc1 C T 10: 34,283,553 (GRCm39) A79T possibly damaging Het
Or10aa3 T C 1: 173,878,251 (GRCm39) F104S probably damaging Het
Or8b47 A G 9: 38,435,029 (GRCm39) probably benign Het
Otof A G 5: 30,541,597 (GRCm39) L774P possibly damaging Het
Phf20l1 C T 15: 66,484,981 (GRCm39) R322C probably damaging Het
Pkhd1 C T 1: 20,279,400 (GRCm39) G2973R probably benign Het
Plekhg5 G T 4: 152,192,983 (GRCm39) D613Y probably damaging Het
Ppm1h T A 10: 122,714,534 (GRCm39) probably null Het
Pramel31 T A 4: 144,089,947 (GRCm39) L329Q probably damaging Het
Prpf39 T C 12: 65,089,255 (GRCm39) probably benign Het
Rtn3 A G 19: 7,460,406 (GRCm39) S15P unknown Het
Slc22a28 G T 19: 8,094,272 (GRCm39) probably benign Het
Slc4a5 T A 6: 83,239,515 (GRCm39) L143Q probably damaging Het
Sox17 T C 1: 4,562,426 (GRCm39) D130G possibly damaging Het
Stag1 A G 9: 100,833,710 (GRCm39) T1108A possibly damaging Het
Sugp2 G A 8: 70,695,185 (GRCm39) D53N probably damaging Het
Trim33 G A 3: 103,261,234 (GRCm39) probably benign Het
Ttn A G 2: 76,629,568 (GRCm39) I14291T probably damaging Het
Ttn A G 2: 76,619,869 (GRCm39) V15933A probably damaging Het
Tulp3 A C 6: 128,302,847 (GRCm39) I324S probably damaging Het
Zfhx2 T C 14: 55,301,717 (GRCm39) E2089G probably damaging Het
Zhx1 T C 15: 57,918,075 (GRCm39) D57G probably benign Het
Other mutations in Or6c205
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Or6c205 APN 10 129,086,865 (GRCm39) missense possibly damaging 0.85
IGL02185:Or6c205 APN 10 129,086,904 (GRCm39) missense possibly damaging 0.60
IGL02887:Or6c205 APN 10 129,086,794 (GRCm39) nonsense probably null
R0584:Or6c205 UTSW 10 129,086,817 (GRCm39) missense probably benign 0.01
R1482:Or6c205 UTSW 10 129,087,012 (GRCm39) missense possibly damaging 0.80
R1845:Or6c205 UTSW 10 129,086,463 (GRCm39) missense probably benign 0.00
R2062:Or6c205 UTSW 10 129,087,001 (GRCm39) nonsense probably null
R2131:Or6c205 UTSW 10 129,086,943 (GRCm39) missense probably benign 0.05
R4975:Or6c205 UTSW 10 129,087,141 (GRCm39) missense probably damaging 1.00
R6714:Or6c205 UTSW 10 129,086,809 (GRCm39) missense possibly damaging 0.91
R7803:Or6c205 UTSW 10 129,086,864 (GRCm39) missense probably benign 0.04
R8060:Or6c205 UTSW 10 129,086,915 (GRCm39) missense possibly damaging 0.62
R8177:Or6c205 UTSW 10 129,086,790 (GRCm39) missense probably benign 0.05
R8878:Or6c205 UTSW 10 129,086,883 (GRCm39) missense probably benign 0.39
R9007:Or6c205 UTSW 10 129,086,669 (GRCm39) missense possibly damaging 0.94
R9332:Or6c205 UTSW 10 129,086,972 (GRCm39) missense probably damaging 0.99
R9571:Or6c205 UTSW 10 129,087,182 (GRCm39) missense possibly damaging 0.50
Posted On 2013-07-11