Incidental Mutation 'IGL02477:Or8c20'
ID 294979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8c20
Ensembl Gene ENSMUSG00000094588
Gene Name olfactory receptor family 8 subfamily C member 20
Synonyms GA_x6K02T2PVTD-32037624-32038565, MOR170-3, Olfr898
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL02477
Quality Score
Status
Chromosome 9
Chromosomal Location 38260381-38261331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38260421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 8 (S8L)
Ref Sequence ENSEMBL: ENSMUSP00000149554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076504] [ENSMUST00000216304] [ENSMUST00000217063]
AlphaFold L7N1Z5
Predicted Effect probably benign
Transcript: ENSMUST00000076504
AA Change: S14L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000075824
Gene: ENSMUSG00000094588
AA Change: S14L

DomainStartEndE-ValueType
Pfam:7tm_4 37 313 2.2e-47 PFAM
Pfam:7tm_1 47 313 1.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216304
AA Change: S8L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217063
AA Change: S8L

PolyPhen 2 Score 0.158 (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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
Cyp4f39 A G 17: 32,708,619 (GRCm39) T389A probably benign Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Elp3 T C 14: 65,800,760 (GRCm39) T283A probably benign Het
Fads3 C A 19: 10,033,806 (GRCm39) P397Q probably damaging Het
Fam171a1 T C 2: 3,203,612 (GRCm39) V198A possibly damaging Het
Fam171a2 T C 11: 102,330,854 (GRCm39) I208M probably benign Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,303 (GRCm39) R82S possibly damaging Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Trem3 G A 17: 48,556,864 (GRCm39) V112I probably benign Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Or8c20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Or8c20 APN 9 38,261,101 (GRCm39) missense possibly damaging 0.95
IGL02858:Or8c20 APN 9 38,260,469 (GRCm39) missense probably benign 0.04
PIT4362001:Or8c20 UTSW 9 38,260,494 (GRCm39) missense probably benign 0.34
R0060:Or8c20 UTSW 9 38,260,808 (GRCm39) missense probably benign 0.23
R0518:Or8c20 UTSW 9 38,260,499 (GRCm39) missense probably damaging 0.99
R0521:Or8c20 UTSW 9 38,260,499 (GRCm39) missense probably damaging 0.99
R0622:Or8c20 UTSW 9 38,260,667 (GRCm39) missense possibly damaging 0.74
R0898:Or8c20 UTSW 9 38,260,738 (GRCm39) missense probably damaging 0.97
R1562:Or8c20 UTSW 9 38,260,658 (GRCm39) nonsense probably null
R3903:Or8c20 UTSW 9 38,260,954 (GRCm39) nonsense probably null
R4375:Or8c20 UTSW 9 38,260,465 (GRCm39) missense probably benign
R4459:Or8c20 UTSW 9 38,261,288 (GRCm39) missense probably damaging 1.00
R4762:Or8c20 UTSW 9 38,260,577 (GRCm39) missense probably damaging 1.00
R4943:Or8c20 UTSW 9 38,260,924 (GRCm39) missense probably damaging 1.00
R5033:Or8c20 UTSW 9 38,260,924 (GRCm39) missense probably damaging 1.00
R5442:Or8c20 UTSW 9 38,261,158 (GRCm39) missense probably benign 0.06
R5863:Or8c20 UTSW 9 38,261,083 (GRCm39) missense probably benign 0.09
R5988:Or8c20 UTSW 9 38,261,045 (GRCm39) missense probably benign 0.30
R7077:Or8c20 UTSW 9 38,261,266 (GRCm39) missense probably damaging 1.00
R7509:Or8c20 UTSW 9 38,260,868 (GRCm39) missense probably benign 0.26
R7709:Or8c20 UTSW 9 38,260,573 (GRCm39) missense probably benign 0.02
R9305:Or8c20 UTSW 9 38,260,381 (GRCm39) start codon destroyed probably benign 0.33
Posted On 2015-04-16