Incidental Mutation 'IGL01751:Olfr1173'
ID153126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1173
Ensembl Gene ENSMUSG00000075132
Gene Nameolfactory receptor 1173
SynonymsGA_x6K02T2Q125-49759783-49758845, MOR174-20_p
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL01751
Quality Score
Status
Chromosome2
Chromosomal Location88273040-88279875 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88274633 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 139 (C139S)
Ref Sequence ENSEMBL: ENSMUSP00000149617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099830] [ENSMUST00000216887]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099830
AA Change: C139S

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097418
Gene: ENSMUSG00000075132
AA Change: C139S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.6e-46 PFAM
Pfam:7tm_1 39 288 1.3e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216887
AA Change: C139S

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,930,588 H174L possibly damaging Het
1700018F24Rik A G 5: 145,043,171 probably null Het
Auts2 G T 5: 131,472,360 Q72K probably damaging Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Ccdc7b A T 8: 129,136,568 probably benign Het
Frem3 A G 8: 80,615,743 E1555G probably benign Het
Gm1966 T A 7: 106,602,309 N576I possibly damaging Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm5828 A G 1: 16,769,984 noncoding transcript Het
Gm6605 T C 7: 38,448,206 noncoding transcript Het
Hps3 T C 3: 20,010,966 D638G probably damaging Het
Igdcc4 A T 9: 65,131,732 N887I probably damaging Het
Itpkc G A 7: 27,213,066 probably benign Het
Mfge8 A G 7: 79,136,655 probably null Het
Mrc2 G T 11: 105,325,734 L116F probably benign Het
Necab1 T C 4: 14,978,171 D226G probably damaging Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Obp2b G T 2: 25,737,748 V59L possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr292 A T 7: 86,694,789 Q111L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olr1 T C 6: 129,488,848 N65S possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Scn3a T A 2: 65,461,252 M1717L possibly damaging Het
Smg7 T C 1: 152,844,061 D903G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttll9 A T 2: 152,983,105 N68I probably damaging Het
Ttn A G 2: 76,737,599 V25904A possibly damaging Het
Uaca G A 9: 60,869,857 V507M probably damaging Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Other mutations in Olfr1173
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01079:Olfr1173 APN 2 88274716 missense probably damaging 1.00
IGL02009:Olfr1173 APN 2 88274712 missense probably benign 0.06
IGL02148:Olfr1173 APN 2 88274222 missense possibly damaging 0.94
IGL02833:Olfr1173 APN 2 88274432 missense probably benign
IGL03001:Olfr1173 APN 2 88274845 missense probably damaging 1.00
R0471:Olfr1173 UTSW 2 88274215 missense possibly damaging 0.95
R2136:Olfr1173 UTSW 2 88274240 missense probably damaging 0.98
R2141:Olfr1173 UTSW 2 88275010 missense probably benign 0.30
R3957:Olfr1173 UTSW 2 88275004 missense probably damaging 1.00
R4801:Olfr1173 UTSW 2 88274879 missense probably damaging 1.00
R4802:Olfr1173 UTSW 2 88274879 missense probably damaging 1.00
R5266:Olfr1173 UTSW 2 88274221 missense possibly damaging 0.49
R5371:Olfr1173 UTSW 2 88274632 missense probably damaging 1.00
R5775:Olfr1173 UTSW 2 88274701 missense probably damaging 0.98
Posted On2014-02-04