Incidental Mutation 'IGL01968:Olfr723'
ID181600
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: 0.134) question?
Stock #IGL01968
Quality Score
Status
Chromosome14
Chromosomal Location49928563-49931787 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49929098 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 149 (W149R)
Ref Sequence ENSEMBL: ENSMUSP00000145863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164157] [ENSMUST00000206058]
Predicted Effect probably damaging
Transcript: ENSMUST00000164157
AA Change: W149R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129254
Gene: ENSMUSG00000093825
AA Change: W149R

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: W149R

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T G 13: 68,611,244 H112Q probably damaging Het
4933425L06Rik T A 13: 105,119,830 M469K probably damaging Het
Abcb4 A G 5: 8,927,913 D497G probably benign Het
Adgra2 A T 8: 27,121,235 R856* probably null Het
Chodl T A 16: 78,941,669 S138T probably damaging Het
Dnah8 C T 17: 30,656,598 R465* probably null Het
Fgfr2 A G 7: 130,185,248 W358R probably damaging Het
Iqgap2 G T 13: 95,635,582 A1363E possibly damaging Het
Malt1 T A 18: 65,449,016 I317K probably benign Het
Mrps5 A G 2: 127,591,907 N72S probably null Het
Mst1r T A 9: 107,916,806 probably null Het
Nars A T 18: 64,507,858 C176S probably damaging Het
Plxna4 T G 6: 32,215,204 D817A possibly damaging Het
Plxnb1 C T 9: 109,100,984 P303S probably benign Het
Prkd2 G T 7: 16,869,576 probably null Het
Sulf1 A T 1: 12,818,451 H320L probably damaging Het
Use1 G A 8: 71,367,067 probably benign Het
Vmn2r6 T C 3: 64,556,345 D356G possibly damaging Het
Other mutations in Olfr723
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02481:Olfr723 APN 14 49928707 missense probably damaging 1.00
IGL03269:Olfr723 APN 14 49928708 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 On2014-05-07