Incidental Mutation 'IGL01543:Or2ag20'
ID 90209
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: 0.070) question?
Stock # IGL01543
Quality Score
Status
Chromosome 7
Chromosomal Location 106464189-106465136 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106465125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 313 (S313P)
Ref Sequence ENSEMBL: ENSMUSP00000095745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080925] [ENSMUST00000098141]
AlphaFold Q9EPF6
Predicted Effect probably benign
Transcript: ENSMUST00000080925
AA Change: S313P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079726
Gene: ENSMUSG00000073900
AA Change: S313P

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 benign
Transcript: ENSMUST00000098141
AA Change: S313P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095745
Gene: ENSMUSG00000073900
AA Change: S313P

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 59,932,097 (GRCm39) I204T probably benign Het
Abhd16a T C 17: 35,310,013 (GRCm39) S69P probably damaging Het
Ampd1 C T 3: 103,003,029 (GRCm39) T582I probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Arid1a A T 4: 133,409,033 (GRCm39) F1825I unknown Het
Asxl1 G A 2: 153,243,404 (GRCm39) G1318D probably benign Het
B4galnt3 G A 6: 120,186,273 (GRCm39) H807Y probably benign Het
Bpifb5 G T 2: 154,075,169 (GRCm39) V366F possibly damaging Het
Caskin1 T C 17: 24,723,522 (GRCm39) V770A probably benign Het
Ccdc152 G A 15: 3,327,606 (GRCm39) T57I possibly damaging Het
Ccs T C 19: 4,884,269 (GRCm39) E61G possibly damaging Het
Chsy3 G A 18: 59,543,472 (GRCm39) W870* probably null Het
Col8a1 G A 16: 57,448,097 (GRCm39) P471L unknown Het
Cyp2j6 A C 4: 96,414,161 (GRCm39) V368G possibly damaging Het
Dnajc3 T C 14: 119,198,274 (GRCm39) probably null Het
Dpep3 A T 8: 106,702,814 (GRCm39) M316K probably damaging Het
Galntl5 A G 5: 25,400,349 (GRCm39) E126G probably damaging Het
Gli1 T C 10: 127,168,347 (GRCm39) N502S probably damaging Het
Hus1 A G 11: 8,950,082 (GRCm39) L213P probably benign Het
Hypk A G 2: 121,287,776 (GRCm39) probably null Het
Igkv4-59 T A 6: 69,415,345 (GRCm39) Y70F probably damaging Het
Impdh1 A C 6: 29,203,377 (GRCm39) V14G probably damaging Het
Kif26b A G 1: 178,506,526 (GRCm39) M201V probably benign Het
Macf1 A G 4: 123,295,250 (GRCm39) I5323T probably damaging Het
Mmp16 C T 4: 18,051,743 (GRCm39) A244V probably damaging Het
Obscn T C 11: 58,932,943 (GRCm39) D5619G probably benign Het
Pcdh7 T C 5: 57,878,107 (GRCm39) V554A probably damaging Het
Piezo2 T C 18: 63,203,101 (GRCm39) E1513G probably damaging Het
Rab6b A G 9: 103,039,837 (GRCm39) D75G probably damaging Het
Ryr1 T C 7: 28,790,501 (GRCm39) Y1435C probably damaging Het
Scarf2 A G 16: 17,620,413 (GRCm39) N81S probably damaging Het
Six5 G A 7: 18,830,272 (GRCm39) A300T possibly damaging Het
Skap2 T A 6: 51,989,375 (GRCm39) N3Y possibly damaging Het
Skint6 A T 4: 112,757,160 (GRCm39) S734T probably benign Het
Slc15a4 A C 5: 127,680,830 (GRCm39) H396Q probably benign Het
Slco6c1 A G 1: 97,053,553 (GRCm39) M116T possibly damaging Het
Slfn9 T C 11: 82,878,775 (GRCm39) D118G probably benign Het
Trim3 T C 7: 105,262,520 (GRCm39) D546G probably damaging Het
Trpa1 A G 1: 14,970,300 (GRCm39) L362P probably damaging Het
Vasn A G 16: 4,467,756 (GRCm39) T568A possibly damaging Het
Vwa5b2 A G 16: 20,414,466 (GRCm39) M281V probably benign Het
Wwp2 A G 8: 108,210,000 (GRCm39) E126G probably damaging Het
Zfp398 G A 6: 47,842,997 (GRCm39) G350S probably damaging Het
Other mutations in Or2ag20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Or2ag20 APN 7 106,464,970 (GRCm39) missense probably damaging 0.99
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 2013-12-03