Incidental Mutation 'IGL03269:Olfr723'
ID415211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr723
Ensembl Gene ENSMUSG00000093825
Gene Nameolfactory receptor 723
SynonymsGA_x6K02T2PMLR-5600424-5599495, MOR247-4, MOR247-3P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.131) question?
Stock #IGL03269
Quality Score
Status
Chromosome14
Chromosomal Location49928563-49931787 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49928708 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 279 (T279S)
Ref Sequence ENSEMBL: ENSMUSP00000145863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164157] [ENSMUST00000206058]
Predicted Effect probably damaging
Transcript: ENSMUST00000164157
AA Change: T279S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129254
Gene: ENSMUSG00000093825
AA Change: T279S

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.8e-44 PFAM
Pfam:7TM_GPCR_Srsx 34 302 1.4e-12 PFAM
Pfam:7tm_1 41 287 4.8e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206058
AA Change: T279S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T A 2: 27,108,355 C930* probably null Het
Ankar A T 1: 72,665,201 V854E probably damaging Het
Ccdc151 A G 9: 21,998,043 probably null Het
Ceacam3 T A 7: 17,161,842 L579Q probably damaging Het
Clip2 G T 5: 134,516,894 H314Q probably damaging Het
Fbxo28 A G 1: 182,317,018 V327A possibly damaging Het
Gdap1 T A 1: 17,161,505 F358Y probably benign Het
Ighv1-18 T C 12: 114,682,846 Y46C probably damaging Het
Il1rl2 T A 1: 40,365,312 F531Y probably damaging Het
Irf6 A G 1: 193,162,598 probably benign Het
Ncoa6 T C 2: 155,406,489 T1632A probably damaging Het
Olfr1469 T A 19: 13,411,428 N286K probably damaging Het
Olfr902 A G 9: 38,448,901 T10A probably benign Het
Osgepl1 C A 1: 53,321,112 Y332* probably null Het
Pibf1 G A 14: 99,187,735 A553T probably damaging Het
Prpf38b A G 3: 108,905,241 F219L probably benign Het
Pwp1 C A 10: 85,882,904 Q312K probably damaging Het
Rnf17 T C 14: 56,427,946 V185A possibly damaging Het
Serpina3k T C 12: 104,340,521 I4T possibly damaging Het
Slc33a1 A G 3: 63,963,757 V145A probably damaging Het
Slco3a1 T C 7: 74,318,532 D480G possibly damaging Het
Tcrg-V4 T A 13: 19,185,452 I122K probably damaging Het
Tdpoz4 G A 3: 93,796,837 C147Y probably damaging Het
Tlr4 C A 4: 66,840,796 P609T probably damaging Het
Ttc30a2 T C 2: 75,978,135 D11G possibly damaging Het
Unc79 A G 12: 103,088,677 K927E probably damaging Het
Vmn1r71 G A 7: 10,748,644 T39I possibly damaging Het
Vmn2r9 A G 5: 108,847,954 L276P probably damaging Het
Zfp335 C A 2: 164,900,354 R570L probably damaging Het
Other mutations in Olfr723
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01968:Olfr723 APN 14 49929098 missense probably damaging 1.00
IGL02481:Olfr723 APN 14 49928707 missense probably damaging 1.00
IGL03330:Olfr723 APN 14 49929221 missense probably damaging 1.00
R1782:Olfr723 UTSW 14 49928639 missense probably benign
R2061:Olfr723 UTSW 14 49929021 missense possibly damaging 0.78
R3014:Olfr723 UTSW 14 49929032 missense probably benign 0.00
R4134:Olfr723 UTSW 14 49928815 missense probably damaging 1.00
R4135:Olfr723 UTSW 14 49928815 missense probably damaging 1.00
R4212:Olfr723 UTSW 14 49928889 nonsense probably null
R4774:Olfr723 UTSW 14 49929269 missense probably damaging 1.00
R4951:Olfr723 UTSW 14 49929058 nonsense probably null
R4965:Olfr723 UTSW 14 49928897 missense probably benign 0.01
R5254:Olfr723 UTSW 14 49928779 missense probably damaging 0.99
R5306:Olfr723 UTSW 14 49929550 start gained probably benign
R5502:Olfr723 UTSW 14 49929536 missense probably benign
R5799:Olfr723 UTSW 14 49929040 missense probably damaging 1.00
R6062:Olfr723 UTSW 14 49928662 missense probably damaging 1.00
R6072:Olfr723 UTSW 14 49929149 missense probably damaging 1.00
Posted On2016-08-02