Incidental Mutation 'IGL01394:Or8c20'
ID 79350
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 # IGL01394
Quality Score
Status
Chromosome 9
Chromosomal Location 38260381-38261331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38261101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 241 (S241T)
Ref Sequence ENSEMBL: ENSMUSP00000075824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076504] [ENSMUST00000216304] [ENSMUST00000217063]
AlphaFold L7N1Z5
Predicted Effect possibly damaging
Transcript: ENSMUST00000076504
AA Change: S241T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075824
Gene: ENSMUSG00000094588
AA Change: S241T

DomainStartEndE-ValueType
Pfam:7tm_4 37 313 2.2e-47 PFAM
Pfam:7tm_1 47 313 1.7e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216304
AA Change: S235T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217063
AA Change: S235T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G A 7: 130,747,960 (GRCm39) Q11* probably null Het
Acot5 T C 12: 84,122,262 (GRCm39) I282T probably benign Het
Adcy2 A G 13: 69,130,521 (GRCm39) V122A probably damaging Het
Aldh16a1 A C 7: 44,794,937 (GRCm39) S511A probably benign Het
Arid3b T C 9: 57,702,317 (GRCm39) E480G probably damaging Het
Baz2a T C 10: 127,954,514 (GRCm39) V723A possibly damaging Het
Bmpr1b A G 3: 141,568,742 (GRCm39) probably null Het
Ccdc83 T C 7: 89,873,209 (GRCm39) E382G probably damaging Het
Cfap46 A G 7: 139,246,895 (GRCm39) Y349H probably damaging Het
Clpx T C 9: 65,217,495 (GRCm39) V21A probably damaging Het
Clstn1 A G 4: 149,719,239 (GRCm39) N356S possibly damaging Het
Ctnnd1 A G 2: 84,435,600 (GRCm39) probably benign Het
Dock1 A G 7: 134,367,945 (GRCm39) N505S probably benign Het
Eaf2 G A 16: 36,630,928 (GRCm39) P82S probably damaging Het
Fbxw26 T C 9: 109,547,057 (GRCm39) Y456C probably benign Het
Foxred2 T C 15: 77,839,820 (GRCm39) T157A probably benign Het
Fscb A T 12: 64,520,578 (GRCm39) I296K possibly damaging Het
Gad1-ps A G 10: 99,281,424 (GRCm39) noncoding transcript Het
Golgb1 A G 16: 36,751,926 (GRCm39) E3120G probably damaging Het
Ift140 A G 17: 25,313,676 (GRCm39) D1369G probably benign Het
Kcnk13 T C 12: 100,027,921 (GRCm39) V332A probably benign Het
Lama3 T A 18: 12,664,983 (GRCm39) D661E probably null Het
Lum A T 10: 97,404,834 (GRCm39) D243V probably damaging Het
Mgat4c A G 10: 102,220,975 (GRCm39) T86A possibly damaging Het
Mpdz A T 4: 81,210,728 (GRCm39) V1706D possibly damaging Het
Myrfl T C 10: 116,658,592 (GRCm39) Q455R probably benign Het
Or6k2 T C 1: 173,986,423 (GRCm39) F28S probably damaging Het
Papolg G A 11: 23,817,235 (GRCm39) T654I probably benign Het
Pappa2 G A 1: 158,592,674 (GRCm39) probably benign Het
Plekhh2 C T 17: 84,864,858 (GRCm39) T82I probably benign Het
Prrc2a A G 17: 35,372,080 (GRCm39) V1773A probably benign Het
Psmb8 G T 17: 34,419,703 (GRCm39) V186L probably damaging Het
Rin3 T C 12: 102,339,862 (GRCm39) V604A probably damaging Het
Rtn1 T C 12: 72,355,190 (GRCm39) D252G probably benign Het
Sdk1 C T 5: 141,598,970 (GRCm39) H212Y probably benign Het
Slc5a5 G T 8: 71,342,032 (GRCm39) Y307* probably null Het
Slc9a9 T A 9: 95,005,090 (GRCm39) L499Q probably benign Het
Snx8 C A 5: 140,337,934 (GRCm39) G237V probably benign Het
Spata18 T A 5: 73,836,688 (GRCm39) probably null Het
Stard9 A G 2: 120,536,808 (GRCm39) E417G possibly damaging Het
Ubr5 T C 15: 38,009,875 (GRCm39) D1034G possibly damaging Het
Upf2 A G 2: 6,045,024 (GRCm39) probably null Het
Xrcc6 A G 15: 81,909,862 (GRCm39) K89R possibly damaging Het
Yeats2 T C 16: 19,980,782 (GRCm39) V237A probably damaging Het
Zdhhc6 A G 19: 55,298,324 (GRCm39) W178R probably benign Het
Zfp280b C A 10: 75,875,497 (GRCm39) Q459K probably damaging Het
Zfp811 C A 17: 33,016,794 (GRCm39) K414N probably damaging Het
Other mutations in Or8c20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02477:Or8c20 APN 9 38,260,421 (GRCm39) missense probably benign 0.16
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 2013-11-05