Incidental Mutation 'IGL01568:Or8s2'
ID 91038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8s2
Ensembl Gene ENSMUSG00000056184
Gene Name olfactory receptor family 8 subfamily S member 2
Synonyms Olfr283, GA_x6K02T2NBG7-5351896-5352825, MOR160-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01568
Quality Score
Status
Chromosome 15
Chromosomal Location 98275977-98277078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98276787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 68 (D68G)
Ref Sequence ENSEMBL: ENSMUSP00000150348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057386] [ENSMUST00000215830]
AlphaFold Q8VGU2
Predicted Effect probably damaging
Transcript: ENSMUST00000057386
AA Change: D68G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051239
Gene: ENSMUSG00000056184
AA Change: D68G

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 1.1e-54 PFAM
Pfam:7tm_1 39 301 4.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215830
AA Change: D68G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,258,270 (GRCm39) L298* probably null Het
Capn15 G T 17: 26,184,419 (GRCm39) R21S probably damaging Het
Cbs A G 17: 31,840,488 (GRCm39) L290P possibly damaging Het
Dnah5 T C 15: 28,229,798 (GRCm39) I144T probably benign Het
Dok4 T A 8: 95,593,430 (GRCm39) I119F probably benign Het
Dpp9 T C 17: 56,498,159 (GRCm39) N599S probably benign Het
Ep400 T C 5: 110,867,361 (GRCm39) T984A unknown Het
Fcrl2 T C 3: 87,163,986 (GRCm39) N381S probably damaging Het
Fhod3 A G 18: 25,253,219 (GRCm39) I1390V probably benign Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gimap9 A G 6: 48,654,550 (GRCm39) T46A probably benign Het
Gm3696 T C 14: 18,435,020 (GRCm39) N88S probably benign Het
Gm5277 A G 3: 78,799,743 (GRCm39) noncoding transcript Het
Gpr153 C A 4: 152,366,825 (GRCm39) probably null Het
Hgf A T 5: 16,769,812 (GRCm39) K95N probably damaging Het
Igf2r A G 17: 12,902,872 (GRCm39) S2393P possibly damaging Het
Ikbke C A 1: 131,185,633 (GRCm39) probably null Het
Il17re G T 6: 113,447,013 (GRCm39) R588L probably damaging Het
Itch T C 2: 155,054,382 (GRCm39) probably benign Het
Krt1c T A 15: 101,721,646 (GRCm39) D465V probably damaging Het
Krt28 G T 11: 99,262,243 (GRCm39) P249Q probably damaging Het
Lax1 A T 1: 133,608,038 (GRCm39) D234E probably benign Het
Mtmr3 A G 11: 4,477,861 (GRCm39) I61T probably damaging Het
Naip5 G T 13: 100,353,609 (GRCm39) Q1217K probably benign Het
Nt5dc3 A G 10: 86,669,802 (GRCm39) T466A probably benign Het
Or5bw2 A T 7: 6,573,569 (GRCm39) H193L possibly damaging Het
Pcdhb3 T C 18: 37,435,054 (GRCm39) V340A possibly damaging Het
Pclo C T 5: 14,728,443 (GRCm39) probably benign Het
Piezo2 C T 18: 63,163,463 (GRCm39) V2152I probably benign Het
Pip4k2b A T 11: 97,620,378 (GRCm39) probably null Het
Ptprs G A 17: 56,720,958 (GRCm39) H1432Y probably damaging Het
Rars1 A G 11: 35,716,808 (GRCm39) probably benign Het
Scrn1 A G 6: 54,499,739 (GRCm39) probably benign Het
Sdr42e1 T C 8: 118,390,182 (GRCm39) Y153C probably damaging Het
Slc18a1 A T 8: 69,518,278 (GRCm39) S245R probably damaging Het
Spmip4 A G 6: 50,550,678 (GRCm39) probably benign Het
Tns1 T G 1: 73,992,668 (GRCm39) D670A probably damaging Het
Trim16 T A 11: 62,711,684 (GRCm39) D118E probably benign Het
Trpv1 A G 11: 73,129,269 (GRCm39) D62G probably benign Het
Tyr A G 7: 87,087,156 (GRCm39) L452P probably damaging Het
Ubr4 T C 4: 139,148,684 (GRCm39) C1723R probably damaging Het
Uqcrb G A 13: 67,049,459 (GRCm39) probably benign Het
Vax2 G T 6: 83,688,519 (GRCm39) V81L possibly damaging Het
Zan A G 5: 137,463,106 (GRCm39) V691A unknown Het
Zfp335 A G 2: 164,736,708 (GRCm39) S976P possibly damaging Het
Zfp384 C T 6: 125,001,095 (GRCm39) P56S probably damaging Het
Other mutations in Or8s2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1942:Or8s2 UTSW 15 98,276,445 (GRCm39) missense probably damaging 1.00
R2049:Or8s2 UTSW 15 98,276,277 (GRCm39) missense possibly damaging 0.95
R2139:Or8s2 UTSW 15 98,276,145 (GRCm39) missense probably damaging 1.00
R2140:Or8s2 UTSW 15 98,276,277 (GRCm39) missense possibly damaging 0.95
R3755:Or8s2 UTSW 15 98,276,463 (GRCm39) missense probably benign
R4965:Or8s2 UTSW 15 98,277,030 (GRCm39) start gained probably benign
R5318:Or8s2 UTSW 15 98,276,523 (GRCm39) missense possibly damaging 0.63
R5804:Or8s2 UTSW 15 98,276,215 (GRCm39) missense probably benign 0.00
R8024:Or8s2 UTSW 15 98,276,878 (GRCm39) missense probably benign
R8903:Or8s2 UTSW 15 98,276,475 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09