Incidental Mutation 'IGL01110:Olfr1099'
ID50540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1099
Ensembl Gene ENSMUSG00000075168
Gene Nameolfactory receptor 1099
SynonymsMOR206-3, GA_x6K02T2Q125-48446067-48445129
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01110
Quality Score
Status
Chromosome2
Chromosomal Location86955126-86960693 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 86958921 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 179 (C179Y)
Ref Sequence ENSEMBL: ENSMUSP00000149528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099871] [ENSMUST00000213456]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099871
AA Change: C179Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: C179Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.9e-54 PFAM
Pfam:7tm_1 41 290 1.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213456
AA Change: C179Y

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs1 G A 19: 4,892,925 S479L possibly damaging Het
Capn6 G T X: 143,807,250 P385H probably damaging Het
Cavin1 C A 11: 100,970,474 probably benign Het
Cdh9 A G 15: 16,855,926 D684G possibly damaging Het
Dlgap5 A G 14: 47,394,326 probably benign Het
Doc2g A G 19: 4,006,577 E321G probably damaging Het
Eef1akmt1 A C 14: 57,549,790 F210V probably damaging Het
Eya1 A G 1: 14,283,130 S65P probably damaging Het
Gpx8 C T 13: 113,045,684 V72I probably benign Het
Gria1 A G 11: 57,289,381 E650G probably damaging Het
Hic1 A T 11: 75,165,519 L848Q possibly damaging Het
Mmp1b C T 9: 7,384,921 D243N probably benign Het
Mov10l1 G T 15: 89,021,257 V872L probably benign Het
Olfr150 T C 9: 39,737,397 V194A probably benign Het
Otof A G 5: 30,461,725 F25S probably damaging Het
Patj A C 4: 98,413,024 N182T probably damaging Het
Pik3r6 G A 11: 68,528,826 probably null Het
Ppil6 G A 10: 41,498,410 V96I probably benign Het
Sardh T A 2: 27,215,113 Q666L probably benign Het
Tasp1 A G 2: 139,977,618 S222P probably damaging Het
Tln2 G T 9: 67,250,582 C1158* probably null Het
Zfp707 T A 15: 75,975,195 C292S probably damaging Het
Zfp956 A G 6: 47,963,412 E235G probably benign Het
Other mutations in Olfr1099
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Olfr1099 APN 2 86959230 missense probably benign 0.05
IGL02119:Olfr1099 APN 2 86959183 missense probably benign 0.24
IGL02433:Olfr1099 APN 2 86959048 missense possibly damaging 0.63
IGL02646:Olfr1099 APN 2 86959353 missense probably damaging 1.00
IGL02824:Olfr1099 APN 2 86958993 missense probably benign 0.03
IGL03228:Olfr1099 APN 2 86958706 missense probably benign 0.16
R0208:Olfr1099 UTSW 2 86959404 missense probably damaging 0.96
R0521:Olfr1099 UTSW 2 86958846 missense probably damaging 1.00
R0783:Olfr1099 UTSW 2 86958562 missense probably benign
R1706:Olfr1099 UTSW 2 86959080 missense probably damaging 1.00
R1859:Olfr1099 UTSW 2 86959081 missense probably damaging 0.99
R2046:Olfr1099 UTSW 2 86958733 missense possibly damaging 0.75
R2126:Olfr1099 UTSW 2 86959098 missense possibly damaging 0.63
R2140:Olfr1099 UTSW 2 86959281 missense probably damaging 1.00
R4452:Olfr1099 UTSW 2 86958699 missense probably damaging 0.99
R4680:Olfr1099 UTSW 2 86959321 missense possibly damaging 0.87
R4958:Olfr1099 UTSW 2 86959105 missense possibly damaging 0.75
R4970:Olfr1099 UTSW 2 86959354 missense probably damaging 1.00
R5112:Olfr1099 UTSW 2 86959354 missense probably damaging 1.00
R5532:Olfr1099 UTSW 2 86958580 nonsense probably null
R5691:Olfr1099 UTSW 2 86959272 missense probably damaging 1.00
R6851:Olfr1099 UTSW 2 86959267 missense possibly damaging 0.46
R6858:Olfr1099 UTSW 2 86958690 missense probably benign 0.11
R7368:Olfr1099 UTSW 2 86959258 missense probably damaging 1.00
Z1088:Olfr1099 UTSW 2 86958666 missense probably benign 0.00
Posted On2013-06-21