Incidental Mutation 'IGL03114:Or52s1'
ID 419304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52s1
Ensembl Gene ENSMUSG00000073955
Gene Name olfactory receptor family 52 subfamily S member 1
Synonyms MOR24-2, Olfr593, GA_x6K02T2PBJ9-5927412-5928362
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03114
Quality Score
Status
Chromosome 7
Chromosomal Location 102861069-102862052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102861928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 287 (I287T)
Ref Sequence ENSEMBL: ENSMUSP00000095807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098206] [ENSMUST00000210686] [ENSMUST00000214051]
AlphaFold Q8VF28
Predicted Effect probably damaging
Transcript: ENSMUST00000098206
AA Change: I287T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: I287T

DomainStartEndE-ValueType
Pfam:7tm_4 44 323 4.9e-106 PFAM
Pfam:7TM_GPCR_Srsx 48 320 2.6e-8 PFAM
Pfam:7tm_1 54 305 6.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210686
AA Change: I276T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000214051
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A T 3: 59,651,144 (GRCm39) I89F possibly damaging Het
Abca13 T A 11: 9,478,999 (GRCm39) H4282Q probably benign Het
Acta2 A G 19: 34,222,310 (GRCm39) probably null Het
Arl10 A G 13: 54,723,579 (GRCm39) probably benign Het
Avpr1a A G 10: 122,285,623 (GRCm39) Y305C probably damaging Het
Bmpr2 T A 1: 59,906,603 (GRCm39) N565K probably damaging Het
Boc A T 16: 44,307,115 (GRCm39) S1035R probably benign Het
Brd10 A T 19: 29,694,532 (GRCm39) S1654T probably benign Het
Ccdc7a T C 8: 129,753,170 (GRCm39) N187S possibly damaging Het
Cntn5 C T 9: 9,748,457 (GRCm39) E680K probably damaging Het
Copa T A 1: 171,946,835 (GRCm39) Y1014* probably null Het
Csmd3 A G 15: 47,683,847 (GRCm39) S1662P probably damaging Het
Cyp2e1 T C 7: 140,353,042 (GRCm39) F360L possibly damaging Het
Efnb3 A T 11: 69,447,628 (GRCm39) probably benign Het
Egf A T 3: 129,530,529 (GRCm39) L211Q probably damaging Het
Eno1 G A 4: 150,325,583 (GRCm39) R56H probably benign Het
Fyb2 A G 4: 104,852,975 (GRCm39) T552A probably damaging Het
Git2 G A 5: 114,871,918 (GRCm39) probably benign Het
Gtf2ird2 A G 5: 134,245,752 (GRCm39) probably null Het
Hyal4 A T 6: 24,755,964 (GRCm39) I61L probably benign Het
Kat14 T C 2: 144,217,885 (GRCm39) probably null Het
Kif13b T C 14: 65,025,897 (GRCm39) V1418A probably benign Het
Lcn12 T C 2: 25,383,274 (GRCm39) K35E probably benign Het
Lyrm7 G T 11: 54,741,198 (GRCm39) N45K possibly damaging Het
Mical2 G T 7: 111,996,764 (GRCm39) G559V probably damaging Het
Mtrr A T 13: 68,712,441 (GRCm39) C648* probably null Het
Muc5b C A 7: 141,412,556 (GRCm39) S1834* probably null Het
Mup16 G A 4: 61,436,250 (GRCm39) T101M probably benign Het
Myof A T 19: 37,892,309 (GRCm39) L1148Q probably damaging Het
Nags A T 11: 102,039,814 (GRCm39) I501F probably damaging Het
Nbeal1 A T 1: 60,317,886 (GRCm39) Y672F probably damaging Het
Ncapg2 A G 12: 116,415,993 (GRCm39) probably benign Het
Obscn A G 11: 58,891,365 (GRCm39) S7056P unknown Het
Pde2a C A 7: 101,157,890 (GRCm39) probably benign Het
Piezo2 T C 18: 63,163,343 (GRCm39) probably null Het
Pkhd1 C A 1: 20,268,395 (GRCm39) D3328Y probably damaging Het
Plxdc2 T C 2: 16,654,935 (GRCm39) V178A probably damaging Het
Prdx3 T C 19: 60,861,556 (GRCm39) probably benign Het
Prkce T A 17: 86,961,983 (GRCm39) D694E probably damaging Het
Prss1l T A 6: 41,374,012 (GRCm39) C205S probably damaging Het
Ptdss1 T A 13: 67,142,058 (GRCm39) Y405* probably null Het
Rad54l A T 4: 115,955,729 (GRCm39) W608R probably damaging Het
Rassf6 G T 5: 90,756,649 (GRCm39) probably benign Het
Sema5a A T 15: 32,673,573 (GRCm39) I804F probably damaging Het
Slc15a2 A T 16: 36,572,267 (GRCm39) I668N probably damaging Het
Thsd7b A G 1: 130,116,288 (GRCm39) E1347G probably benign Het
Tmco3 T C 8: 13,348,205 (GRCm39) probably benign Het
Ttn T C 2: 76,551,996 (GRCm39) M31214V probably null Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Ugt2b5 T C 5: 87,276,209 (GRCm39) Y355C probably damaging Het
Usp48 C A 4: 137,383,436 (GRCm39) T1031K probably damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn1r202 T A 13: 22,685,500 (GRCm39) probably benign Het
Vmn2r90 T C 17: 17,953,771 (GRCm39) I645T probably damaging Het
Vps18 T C 2: 119,124,132 (GRCm39) V353A possibly damaging Het
Vwf C T 6: 125,576,326 (GRCm39) Q469* probably null Het
Other mutations in Or52s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Or52s1 APN 7 102,861,892 (GRCm39) missense probably damaging 1.00
IGL01636:Or52s1 APN 7 102,861,384 (GRCm39) missense probably benign
IGL01637:Or52s1 APN 7 102,861,384 (GRCm39) missense probably benign
IGL02115:Or52s1 APN 7 102,861,681 (GRCm39) missense probably damaging 1.00
IGL02668:Or52s1 APN 7 102,861,942 (GRCm39) missense possibly damaging 0.88
IGL03063:Or52s1 APN 7 102,861,841 (GRCm39) missense probably damaging 0.96
IGL03070:Or52s1 APN 7 102,861,904 (GRCm39) missense probably benign 0.02
R0144:Or52s1 UTSW 7 102,861,747 (GRCm39) missense probably damaging 1.00
R0238:Or52s1 UTSW 7 102,861,933 (GRCm39) missense possibly damaging 0.93
R0238:Or52s1 UTSW 7 102,861,933 (GRCm39) missense possibly damaging 0.93
R0239:Or52s1 UTSW 7 102,861,933 (GRCm39) missense possibly damaging 0.93
R0239:Or52s1 UTSW 7 102,861,933 (GRCm39) missense possibly damaging 0.93
R0309:Or52s1 UTSW 7 102,861,928 (GRCm39) missense probably damaging 1.00
R0602:Or52s1 UTSW 7 102,861,787 (GRCm39) missense possibly damaging 0.76
R0677:Or52s1 UTSW 7 102,862,005 (GRCm39) nonsense probably null
R0783:Or52s1 UTSW 7 102,861,877 (GRCm39) missense probably damaging 1.00
R1829:Or52s1 UTSW 7 102,861,093 (GRCm39) missense probably benign 0.01
R3840:Or52s1 UTSW 7 102,861,900 (GRCm39) missense probably damaging 1.00
R3841:Or52s1 UTSW 7 102,861,900 (GRCm39) missense probably damaging 1.00
R4449:Or52s1 UTSW 7 102,861,687 (GRCm39) missense probably benign 0.00
R4898:Or52s1 UTSW 7 102,861,747 (GRCm39) missense probably damaging 1.00
R5197:Or52s1 UTSW 7 102,861,207 (GRCm39) missense probably benign 0.02
R5285:Or52s1 UTSW 7 102,862,005 (GRCm39) nonsense probably null
R6548:Or52s1 UTSW 7 102,861,111 (GRCm39) missense probably benign 0.08
R7353:Or52s1 UTSW 7 102,861,516 (GRCm39) missense probably damaging 1.00
R7362:Or52s1 UTSW 7 102,861,861 (GRCm39) missense probably damaging 1.00
R7663:Or52s1 UTSW 7 102,861,652 (GRCm39) missense possibly damaging 0.74
R7799:Or52s1 UTSW 7 102,861,186 (GRCm39) missense probably benign 0.33
R8405:Or52s1 UTSW 7 102,861,408 (GRCm39) missense probably benign 0.31
R8835:Or52s1 UTSW 7 102,861,928 (GRCm39) missense probably damaging 1.00
R9417:Or52s1 UTSW 7 102,861,156 (GRCm39) missense possibly damaging 0.51
R9429:Or52s1 UTSW 7 102,861,871 (GRCm39) missense possibly damaging 0.74
X0067:Or52s1 UTSW 7 102,861,255 (GRCm39) missense possibly damaging 0.82
Posted On 2016-08-02