Incidental Mutation 'IGL02703:Olfr453'
ID304198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr453
Ensembl Gene ENSMUSG00000095831
Gene Nameolfactory receptor 453
SynonymsMOR257-8P, GA_x6K02T2P3E9-4815856-4814903
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02703
Quality Score
Status
Chromosome6
Chromosomal Location42739371-42746963 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 42744076 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 13 (I13S)
Ref Sequence ENSEMBL: ENSMUSP00000150467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053647] [ENSMUST00000213997]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053647
AA Change: I13S

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052043
Gene: ENSMUSG00000095831
AA Change: I13S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-54 PFAM
Pfam:7tm_1 41 290 1.8e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203812
Predicted Effect possibly damaging
Transcript: ENSMUST00000213997
AA Change: I13S

PolyPhen 2 Score 0.899 (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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,064,241 Q60L probably damaging Het
AI593442 A C 9: 52,678,118 L53R probably damaging Het
Bmp2 T G 2: 133,561,404 S292A probably benign Het
Cd37 T C 7: 45,235,525 D186G probably benign Het
Cenpf T C 1: 189,659,758 I626V probably benign Het
Faim T A 9: 98,992,201 S49T probably benign Het
Glrb T G 3: 80,850,993 E371A probably benign Het
Kcne2 T C 16: 92,296,950 S122P possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Olfr1047 T A 2: 86,228,979 probably benign Het
Olfr1420 A G 19: 11,896,242 T74A possibly damaging Het
Pex1 C A 5: 3,615,120 H573Q probably benign Het
Plxna1 A G 6: 89,356,943 S235P probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc41a2 T C 10: 83,254,847 K491R probably damaging Het
Sugct T G 13: 17,452,540 T243P possibly damaging Het
Tnfaip3 G T 10: 19,007,032 D212E probably damaging Het
Trim68 A G 7: 102,684,079 V132A probably damaging Het
Other mutations in Olfr453
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Olfr453 APN 6 42744691 missense probably damaging 1.00
IGL01642:Olfr453 APN 6 42744552 missense probably benign 0.00
IGL03018:Olfr453 APN 6 42744814 missense probably damaging 1.00
R1163:Olfr453 UTSW 6 42744123 missense probably benign 0.00
R1728:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R1729:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R1730:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R1739:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R1784:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R2014:Olfr453 UTSW 6 42744850 missense probably damaging 0.99
R2015:Olfr453 UTSW 6 42744850 missense probably damaging 0.99
R2130:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R2132:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R2133:Olfr453 UTSW 6 42744135 missense possibly damaging 0.61
R3937:Olfr453 UTSW 6 42744076 missense probably damaging 0.98
R4862:Olfr453 UTSW 6 42744555 missense possibly damaging 0.65
R4959:Olfr453 UTSW 6 42744687 missense probably damaging 1.00
R4973:Olfr453 UTSW 6 42744687 missense probably damaging 1.00
R5155:Olfr453 UTSW 6 42744814 missense probably damaging 1.00
R6581:Olfr453 UTSW 6 42744079 missense probably damaging 1.00
R7028:Olfr453 UTSW 6 42744403 missense probably benign 0.08
R7348:Olfr453 UTSW 6 42744856 missense possibly damaging 0.95
R7490:Olfr453 UTSW 6 42744805 missense probably damaging 1.00
R7522:Olfr453 UTSW 6 42744634 missense probably damaging 0.98
R8373:Olfr453 UTSW 6 42744346 missense probably damaging 0.99
Posted On2015-04-16