Incidental Mutation 'IGL02147:Olfr1093'
ID281800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1093
Ensembl Gene ENSMUSG00000047969
Gene Nameolfactory receptor 1093
SynonymsGA_x6K02T2Q125-48278396-48279364, MOR179-6
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.298) question?
Stock #IGL02147
Quality Score
Status
Chromosome2
Chromosomal Location86782479-86787616 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86786150 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 140 (N140S)
Ref Sequence ENSEMBL: ENSMUSP00000151453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055273] [ENSMUST00000213354] [ENSMUST00000219561]
Predicted Effect probably benign
Transcript: ENSMUST00000055273
AA Change: N140S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000049733
Gene: ENSMUSG00000047969
AA Change: N140S

DomainStartEndE-ValueType
Pfam:7tm_4 43 319 2.4e-49 PFAM
Pfam:7tm_1 53 302 1.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213354
AA Change: N140S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000219561
AA Change: N140S

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,064,963 noncoding transcript Het
Acadsb T A 7: 131,425,881 probably benign Het
Ambra1 A G 2: 91,767,719 H75R probably benign Het
Arhgef28 T A 13: 97,961,314 I931F probably damaging Het
Cdk5 T C 5: 24,420,320 N165D probably benign Het
Col4a2 A T 8: 11,408,140 Y272F probably benign Het
Csde1 T A 3: 103,039,934 D67E probably damaging Het
Dhx34 T C 7: 16,204,003 H724R probably benign Het
Dhx57 T C 17: 80,260,323 D777G possibly damaging Het
Fat3 A C 9: 15,995,985 V2907G probably damaging Het
Fst T C 13: 114,454,360 Y290C probably damaging Het
Gm5065 T A 7: 5,359,733 I121N probably damaging Het
Ighg2b A T 12: 113,306,391 *336R probably null Het
Igkv4-92 C T 6: 68,755,252 S46N probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Lmtk2 A G 5: 144,156,936 M244V possibly damaging Het
Mcoln1 T C 8: 3,508,379 F211S probably benign Het
Mib2 C A 4: 155,657,687 R209L probably benign Het
Msx3 C A 7: 140,048,885 V39L possibly damaging Het
Mtnr1b A G 9: 15,863,376 F129S probably damaging Het
Nr3c2 A G 8: 76,909,067 S266G probably damaging Het
Nup160 G T 2: 90,703,941 L703F probably benign Het
Olfr95 T A 17: 37,210,986 Y289F probably damaging Het
Pcyt1a T A 16: 32,462,098 N105K probably damaging Het
Pdhx A G 2: 103,030,341 probably benign Het
Qpct T C 17: 79,070,716 V105A probably damaging Het
Ros1 A C 10: 52,120,895 F1227C probably damaging Het
Rrp12 A T 19: 41,886,181 V342E probably damaging Het
Sart3 A G 5: 113,762,943 probably benign Het
Slc6a18 T A 13: 73,668,162 K366M probably damaging Het
Smarca4 A G 9: 21,635,703 N175D probably damaging Het
Sox14 T C 9: 99,875,545 K47R probably damaging Het
Trcg1 A T 9: 57,245,849 I592F probably benign Het
Ush2a T C 1: 188,864,703 M3880T probably benign Het
Usp20 T C 2: 31,006,401 F172S probably damaging Het
Vmn2r4 C T 3: 64,398,361 probably benign Het
Other mutations in Olfr1093
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02337:Olfr1093 APN 2 86786174 missense probably damaging 1.00
IGL02734:Olfr1093 APN 2 86786368 missense probably benign 0.13
R0379:Olfr1093 UTSW 2 86785735 missense probably benign
R0526:Olfr1093 UTSW 2 86786347 missense possibly damaging 0.67
R3959:Olfr1093 UTSW 2 86785996 missense probably benign 0.04
R5635:Olfr1093 UTSW 2 86785726 unclassified probably null
R5951:Olfr1093 UTSW 2 86786227 missense probably benign
R6932:Olfr1093 UTSW 2 86786155 missense probably damaging 1.00
R7289:Olfr1093 UTSW 2 86786690 missense probably benign
R7432:Olfr1093 UTSW 2 86786221 nonsense probably null
Z1088:Olfr1093 UTSW 2 86786473 missense probably damaging 1.00
Posted On2015-04-16