Incidental Mutation 'IGL01294:Or2ag20'
ID 73015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2ag20
Ensembl Gene ENSMUSG00000073900
Gene Name olfactory receptor family 2 subfamily AG member 20
Synonyms GA_x6K02T2PBJ9-9247095-9248042, MOR283-12P, Olfr704
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01294
Quality Score
Status
Chromosome 7
Chromosomal Location 106464189-106465136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106464970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 261 (L261S)
Ref Sequence ENSEMBL: ENSMUSP00000095745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080925] [ENSMUST00000098141]
AlphaFold Q9EPF6
Predicted Effect probably damaging
Transcript: ENSMUST00000080925
AA Change: L261S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079726
Gene: ENSMUSG00000073900
AA Change: L261S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.1e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.5e-7 PFAM
Pfam:7tm_1 41 290 1.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098141
AA Change: L261S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095745
Gene: ENSMUSG00000073900
AA Change: L261S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.4e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 305 7.5e-7 PFAM
Pfam:7tm_1 41 290 1.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217204
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 127,836,291 (GRCm39) S101T probably benign Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Arglu1 G T 8: 8,733,739 (GRCm39) probably benign Het
Cacna2d2 T G 9: 107,391,280 (GRCm39) Y436D probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cpne8 G A 15: 90,385,648 (GRCm39) S460L probably damaging Het
Crat G A 2: 30,295,199 (GRCm39) A436V probably damaging Het
Dmd T C X: 83,475,604 (GRCm39) probably null Het
Emilin2 G T 17: 71,581,589 (GRCm39) A379E probably benign Het
Ercc2 A G 7: 19,124,342 (GRCm39) I445V probably benign Het
Evc2 T C 5: 37,504,854 (GRCm39) probably null Het
Filip1l A T 16: 57,392,711 (GRCm39) K1100* probably null Het
Gm4353 T A 7: 115,683,077 (GRCm39) D168V possibly damaging Het
Hsf4 G T 8: 106,002,289 (GRCm39) *417L probably null Het
Kmt2a A G 9: 44,731,594 (GRCm39) probably benign Het
Macroh2a1 A T 13: 56,222,113 (GRCm39) V346E probably damaging Het
Mpzl1 A G 1: 165,421,177 (GRCm39) S261P probably damaging Het
Mre11a T C 9: 14,742,211 (GRCm39) S621P probably damaging Het
Muc6 T C 7: 141,232,926 (GRCm39) Y934C probably damaging Het
Naip5 A G 13: 100,353,588 (GRCm39) S1224P probably damaging Het
Nwd1 A T 8: 73,438,373 (GRCm39) N1474Y probably damaging Het
Ptbp2 A G 3: 119,541,461 (GRCm39) V192A probably damaging Het
Rfx2 T C 17: 57,090,657 (GRCm39) Y421C probably damaging Het
Sfmbt2 T A 2: 10,595,232 (GRCm39) probably benign Het
Slc4a10 A C 2: 62,083,653 (GRCm39) probably null Het
Slitrk6 T C 14: 110,987,506 (GRCm39) M734V probably benign Het
Tap1 T C 17: 34,413,019 (GRCm39) probably null Het
Tep1 A G 14: 51,067,114 (GRCm39) probably benign Het
Uba6 T A 5: 86,297,907 (GRCm39) I256L possibly damaging Het
Wnt3 A T 11: 103,699,140 (GRCm39) H82L possibly damaging Het
Other mutations in Or2ag20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Or2ag20 APN 7 106,465,125 (GRCm39) missense probably benign 0.00
IGL02021:Or2ag20 APN 7 106,464,696 (GRCm39) nonsense probably null
R5055:Or2ag20 UTSW 7 106,464,937 (GRCm39) missense probably damaging 0.98
R5106:Or2ag20 UTSW 7 106,464,595 (GRCm39) missense probably damaging 1.00
R7983:Or2ag20 UTSW 7 106,464,958 (GRCm39) missense probably benign 0.16
Z1177:Or2ag20 UTSW 7 106,464,195 (GRCm39) missense probably benign
Posted On 2013-10-07