Incidental Mutation 'IGL02277:Olfr1373'
ID 287355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1373
Ensembl Gene ENSMUSG00000062204
Gene Name olfactory receptor 1373
Synonyms MOR256-69_p, GA_x6K02T2QP88-3283154-3284089
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL02277
Quality Score
Status
Chromosome 11
Chromosomal Location 52144593-52145528 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52145362 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 56 (H56L)
Ref Sequence ENSEMBL: ENSMUSP00000077384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078264]
AlphaFold Q7TQT6
Predicted Effect probably damaging
Transcript: ENSMUST00000078264
AA Change: H56L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077384
Gene: ENSMUSG00000062204
AA Change: H56L

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 4.7e-46 PFAM
Pfam:7tm_1 41 289 1.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181262
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C T 9: 57,258,425 G222D probably benign Het
Abcc6 T C 7: 46,001,061 D625G probably benign Het
Akr1c12 C T 13: 4,272,269 R258Q probably damaging Het
Akr1c20 T A 13: 4,514,405 E36D probably benign Het
Csn2 A G 5: 87,698,022 probably benign Het
Dennd5a T C 7: 109,897,969 I1084V possibly damaging Het
Dlg1 A G 16: 31,790,264 I259V probably damaging Het
Dpysl5 A G 5: 30,788,781 I344V probably damaging Het
Fcrl6 A G 1: 172,599,119 C87R probably damaging Het
Fras1 A G 5: 96,588,118 E524G probably benign Het
Gabpb2 A G 3: 95,189,284 V270A probably benign Het
Gm5591 T C 7: 38,520,432 D339G probably damaging Het
Gm5591 T A 7: 38,519,038 I804F possibly damaging Het
Ighv2-5 T A 12: 113,685,507 T109S possibly damaging Het
Ints4 T A 7: 97,487,458 L119Q probably damaging Het
Kansl3 A T 1: 36,348,947 D386E possibly damaging Het
Kdm3b A T 18: 34,823,664 H1224L probably damaging Het
Macf1 C A 4: 123,486,704 R1523L probably damaging Het
Myo1f A G 17: 33,579,861 probably null Het
Nup188 A G 2: 30,326,511 T776A possibly damaging Het
Olfr1305 T A 2: 111,873,580 I92F possibly damaging Het
Olfr357 G A 2: 36,997,184 probably null Het
Plxnb1 T A 9: 109,112,133 L1660Q probably damaging Het
Ppp1r17 A G 6: 56,026,138 D71G probably damaging Het
Ptprt T C 2: 161,547,381 Q1264R probably damaging Het
Rgl3 C T 9: 21,974,109 V642M probably damaging Het
Slc26a2 T C 18: 61,198,980 T460A probably damaging Het
Smtnl2 T A 11: 72,391,373 M395L probably damaging Het
St3gal5 A T 6: 72,142,200 T99S possibly damaging Het
Unc5b T C 10: 60,774,742 N421S probably benign Het
Zcchc17 G A 4: 130,327,221 T179M probably benign Het
Zfp369 T C 13: 65,284,932 S79P probably damaging Het
Other mutations in Olfr1373
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02814:Olfr1373 APN 11 52144810 missense probably damaging 1.00
R0490:Olfr1373 UTSW 11 52144666 missense probably damaging 1.00
R1075:Olfr1373 UTSW 11 52144850 missense possibly damaging 0.94
R4050:Olfr1373 UTSW 11 52145134 missense probably damaging 1.00
R5666:Olfr1373 UTSW 11 52144698 nonsense probably null
R6267:Olfr1373 UTSW 11 52144596 missense probably benign 0.28
R6296:Olfr1373 UTSW 11 52144596 missense probably benign 0.28
R6720:Olfr1373 UTSW 11 52144693 missense probably benign 0.18
R6887:Olfr1373 UTSW 11 52145352 missense probably benign 0.01
R8797:Olfr1373 UTSW 11 52145513 missense probably benign 0.05
V1662:Olfr1373 UTSW 11 52145177 missense probably damaging 1.00
X0066:Olfr1373 UTSW 11 52145264 missense probably benign 0.04
Posted On 2015-04-16