Incidental Mutation 'IGL03388:Or6c206'
ID 420929
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 # IGL03388
Quality Score
Status
Chromosome 10
Chromosomal Location 129096832-129097770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129097312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 161 (I161F)
Ref Sequence ENSEMBL: ENSMUSP00000150656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073704] [ENSMUST00000204573] [ENSMUST00000213512]
AlphaFold Q7TRI3
Predicted Effect probably benign
Transcript: ENSMUST00000073704
AA Change: I161F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073383
Gene: ENSMUSG00000095483
AA Change: I161F

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 benign
Transcript: ENSMUST00000213512
AA Change: I161F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T C 11: 117,693,596 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,801 (GRCm39) K340R possibly damaging Het
Ccr3 A G 9: 123,828,658 (GRCm39) probably benign Het
Cdan1 A G 2: 120,560,992 (GRCm39) probably benign Het
Clasp1 T A 1: 118,433,233 (GRCm39) D237E possibly damaging Het
Ddx18 T C 1: 121,493,652 (GRCm39) K111E possibly damaging Het
Defa21 T C 8: 21,515,764 (GRCm39) L54P probably damaging Het
Dennd3 T C 15: 73,416,208 (GRCm39) V486A probably damaging Het
Dnah9 T A 11: 65,838,368 (GRCm39) D3143V probably damaging Het
Dnm1l A G 16: 16,131,916 (GRCm39) probably benign Het
Epb41 T C 4: 131,702,105 (GRCm39) Y510C probably damaging Het
Fat4 T C 3: 39,011,376 (GRCm39) Y2159H probably damaging Het
Fmo1 A G 1: 162,663,716 (GRCm39) V271A probably benign Het
Gm12185 A G 11: 48,799,113 (GRCm39) V460A probably benign Het
Hspa8 T C 9: 40,716,224 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,356 (GRCm39) E166G probably damaging Het
Il31ra C A 13: 112,682,746 (GRCm39) S120I probably damaging Het
Kdm5b A G 1: 134,555,060 (GRCm39) T1323A probably benign Het
Lgals9 T A 11: 78,854,247 (GRCm39) I346F probably damaging Het
Lgi2 T C 5: 52,695,819 (GRCm39) D372G probably damaging Het
Magi3 A C 3: 103,923,157 (GRCm39) S1187A probably benign Het
Nr1d2 A G 14: 18,215,403 (GRCm38) F203S probably benign Het
Nup210l G A 3: 90,077,351 (GRCm39) V896I probably damaging Het
Nxf7 T C X: 134,485,489 (GRCm39) K440E probably damaging Het
Or9i1b T A 19: 13,896,984 (GRCm39) V200D probably damaging Het
Pcdhb6 T C 18: 37,469,190 (GRCm39) S20P probably damaging Het
Per2 G T 1: 91,372,511 (GRCm39) probably benign Het
Pi15 G A 1: 17,673,001 (GRCm39) A67T probably benign Het
Pnp2 A T 14: 51,200,995 (GRCm39) N160I probably damaging Het
Ppp1r12c A G 7: 4,485,069 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,561,093 (GRCm39) probably null Het
Rnf115 G A 3: 96,695,984 (GRCm39) V257M probably damaging Het
Rtkn T A 6: 83,127,071 (GRCm39) V346D probably benign Het
Rubcn A T 16: 32,661,938 (GRCm39) N427K probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sel1l2 A C 2: 140,105,284 (GRCm39) probably benign Het
Septin4 T A 11: 87,459,042 (GRCm39) L472* probably null Het
Slc5a5 A G 8: 71,342,972 (GRCm39) V196A probably benign Het
Sox13 A T 1: 133,316,686 (GRCm39) L207H probably damaging Het
Tmtc2 A G 10: 105,157,344 (GRCm39) probably benign Het
Trip12 T C 1: 84,720,907 (GRCm39) K1409R probably damaging Het
Ttn C T 2: 76,797,481 (GRCm39) A528T probably benign Het
Ubr4 T C 4: 139,142,343 (GRCm39) I1310T probably damaging Het
Ypel5 T C 17: 73,153,400 (GRCm39) F35L probably damaging Het
Zfp13 G T 17: 23,795,888 (GRCm39) R228S probably benign Het
Other mutations in Or6c206
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Or6c206 APN 10 129,097,204 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02