Incidental Mutation 'IGL03228:Olfr1099'
ID413779
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: 0.115) question?
Stock #IGL03228
Quality Score
Status
Chromosome2
Chromosomal Location86955126-86960693 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86958706 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 251 (F251L)
Ref Sequence ENSEMBL: ENSMUSP00000149528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099871] [ENSMUST00000213456]
Predicted Effect probably benign
Transcript: ENSMUST00000099871
AA Change: F251L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: F251L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.9e-54 PFAM
Pfam:7tm_1 41 290 1.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213456
AA Change: F251L

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
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
Arid3a G A 10: 79,950,744 V444I possibly damaging Het
Catsperg2 T C 7: 29,698,225 Y1021C probably damaging Het
Cbx1 A G 11: 96,800,805 probably benign Het
Cdk15 G T 1: 59,258,753 K106N possibly damaging Het
Itpkb A T 1: 180,413,999 R745W probably damaging Het
Kdr T A 5: 75,957,048 I682F probably damaging Het
Klhl1 T A 14: 96,240,327 E435V probably damaging Het
Lamp3 T A 16: 19,676,067 Y296F possibly damaging Het
Ltb4r2 A T 14: 55,761,951 N10Y probably damaging Het
Mmrn1 C T 6: 60,944,892 P111L probably benign Het
Nt5c A G 11: 115,491,161 Y107H probably damaging Het
Olfr164 A C 16: 19,286,390 L118V probably damaging Het
Olfr473 T A 7: 107,934,123 I201N possibly damaging Het
Piezo2 T A 18: 63,053,062 S1679C probably damaging Het
Plac8l1 T A 18: 42,192,607 S78C probably damaging Het
Scyl2 A T 10: 89,650,080 I549N probably damaging Het
Slc51a G A 16: 32,478,750 R110C probably damaging Het
Slc6a20b G T 9: 123,632,132 Y65* probably null Het
Stx11 G A 10: 12,941,212 T256M probably benign Het
Syne2 T C 12: 75,979,912 C3505R probably benign Het
Trim75 A G 8: 64,983,354 L148P probably benign Het
Ubr4 T A 4: 139,429,598 N2311K probably damaging Het
Zfp553 A G 7: 127,236,077 H268R probably damaging Het
Other mutations in Olfr1099
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Olfr1099 APN 2 86958921 missense possibly damaging 0.90
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
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 On2016-08-02