Incidental Mutation 'R4898:Or52s1'
ID 375903
Institutional Source Beutler Lab
Gene Symbol Or52s1
Ensembl Gene ENSMUSG00000073955
Gene Name olfactory receptor family 52 subfamily S member 1
Synonyms MOR24-2, Olfr593, GA_x6K02T2PBJ9-5927412-5928362
MMRRC Submission 042502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R4898 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102861069-102862052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102861747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 216 (I216V)
Ref Sequence ENSEMBL: ENSMUSP00000147588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098206] [ENSMUST00000210686] [ENSMUST00000214051]
AlphaFold Q8VF28
Predicted Effect probably damaging
Transcript: ENSMUST00000098206
AA Change: I227V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: I227V

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: I216V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000214051
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
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: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,639,111 (GRCm39) Y944C probably damaging Het
Acacb T C 5: 114,370,999 (GRCm39) V1747A probably benign Het
Acad8 C T 9: 26,889,698 (GRCm39) R332H probably damaging Het
Acrbp A C 6: 125,027,501 (GRCm39) T50P probably damaging Het
Ahctf1 G T 1: 179,583,077 (GRCm39) N1500K probably benign Het
Aoc1l3 A G 6: 48,964,651 (GRCm39) T220A possibly damaging Het
Arfgef1 A G 1: 10,229,798 (GRCm39) I1301T possibly damaging Het
Arhgef15 T C 11: 68,842,171 (GRCm39) S478G probably benign Het
Armh1 T C 4: 117,094,977 (GRCm39) D21G probably damaging Het
Atp13a4 A T 16: 29,227,779 (GRCm39) L1045* probably null Het
Atp2a3 T A 11: 72,873,506 (GRCm39) L793H probably damaging Het
B4galnt4 C A 7: 140,648,173 (GRCm39) P563Q probably benign Het
Bcl2a1b A T 9: 89,081,713 (GRCm39) K94* probably null Het
Bod1 T A 11: 31,616,853 (GRCm39) Q136L possibly damaging Het
C2cd3 A G 7: 100,055,166 (GRCm39) K443R probably damaging Het
Cadps A G 14: 12,411,588 (GRCm38) V1250A possibly damaging Het
Car12 T A 9: 66,671,600 (GRCm39) Y332* probably null Het
Ccdc186 A T 19: 56,790,432 (GRCm39) probably null Het
Cdh6 T C 15: 13,034,774 (GRCm39) T629A probably damaging Het
Cep112 T A 11: 108,397,471 (GRCm39) D353E probably damaging Het
Cep152 T C 2: 125,428,301 (GRCm39) S777G probably benign Het
Clec4b2 A C 6: 123,181,163 (GRCm39) K183Q probably benign Het
Cngb3 T C 4: 19,395,926 (GRCm39) Y323H probably benign Het
Cnp G T 11: 100,467,202 (GRCm39) E48D probably benign Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Cyp2d11 T A 15: 82,275,224 (GRCm39) D241V probably benign Het
D5Ertd579e T A 5: 36,772,285 (GRCm39) E703D probably damaging Het
Dlg1 T C 16: 31,676,764 (GRCm39) V731A probably damaging Het
Dlgap5 T C 14: 47,651,276 (GRCm39) S86G probably benign Het
Dock3 A G 9: 106,807,266 (GRCm39) F1354L probably damaging Het
Dock3 C A 9: 106,870,171 (GRCm39) V638F possibly damaging Het
Eif3c A T 7: 126,156,626 (GRCm39) M407K probably benign Het
Eif4a3l1 A T 6: 136,305,737 (GRCm39) Q66L possibly damaging Het
Epha4 T A 1: 77,366,712 (GRCm39) K578* probably null Het
Erc2 C T 14: 27,375,285 (GRCm39) L168F probably damaging Het
Esyt2 A G 12: 116,305,708 (GRCm39) I313V probably benign Het
Far1 T A 7: 113,167,432 (GRCm39) Y506N probably damaging Het
Fbxw26 T A 9: 109,547,037 (GRCm39) N463Y possibly damaging Het
Fgg A G 3: 82,915,847 (GRCm39) D96G probably benign Het
Gfer A G 17: 24,914,274 (GRCm39) S130P probably damaging Het
Hdac10 A T 15: 89,012,650 (GRCm39) M1K probably null Het
Hsd3b1 A T 3: 98,760,642 (GRCm39) S110R probably benign Het
Ints15 A G 5: 143,287,592 (GRCm39) S438P probably benign Het
Itga6 T C 2: 71,668,717 (GRCm39) L552P possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lrrc8a A G 2: 30,147,214 (GRCm39) K676R probably benign Het
Lrrc8b A T 5: 105,628,080 (GRCm39) Y142F probably benign Het
Lyz2 T A 10: 117,114,614 (GRCm39) D105V possibly damaging Het
Mamdc4 T C 2: 25,460,035 (GRCm39) D76G probably damaging Het
Map7d1 T C 4: 126,127,018 (GRCm39) K731E unknown Het
Mgam A C 6: 40,619,988 (GRCm39) I26L probably benign Het
Mmp13 A T 9: 7,272,953 (GRCm39) E104D probably benign Het
Morc2a C T 11: 3,626,664 (GRCm39) R241* probably null Het
Mtfmt C A 9: 65,359,386 (GRCm39) H354N probably benign Het
Myh3 T C 11: 66,990,233 (GRCm39) I1626T probably benign Het
Ndst1 A T 18: 60,825,059 (GRCm39) V753D probably benign Het
Neurl4 A G 11: 69,793,997 (GRCm39) D151G probably damaging Het
Nlrx1 T C 9: 44,168,194 (GRCm39) S568G probably benign Het
Or10g3b G C 14: 52,586,999 (GRCm39) P168R probably damaging Het
Or2t45 T C 11: 58,669,132 (GRCm39) Y60H possibly damaging Het
Or2t46 T G 11: 58,472,546 (GRCm39) L292R probably damaging Het
Or4c52 T C 2: 89,845,762 (GRCm39) F163L probably damaging Het
Or6c66 A T 10: 129,461,468 (GRCm39) I154N probably benign Het
Or8b42 A T 9: 38,342,111 (GRCm39) M178L probably benign Het
Osbpl7 A G 11: 96,950,976 (GRCm39) I608V probably damaging Het
Pard3b T C 1: 61,807,159 (GRCm39) I58T probably damaging Het
Pcare A G 17: 72,058,066 (GRCm39) M537T probably damaging Het
Pcdhga1 A C 18: 37,795,407 (GRCm39) E137A possibly damaging Het
Pde6c G A 19: 38,139,072 (GRCm39) V301I possibly damaging Het
Pdia5 G C 16: 35,230,786 (GRCm39) N338K possibly damaging Het
Pex11g T C 8: 3,514,042 (GRCm39) Y40C probably damaging Het
Plekhg3 A G 12: 76,610,899 (GRCm39) Y183C probably damaging Het
Pole A C 5: 110,438,090 (GRCm39) probably null Het
Ppfia1 A G 7: 144,045,313 (GRCm39) L948P probably damaging Het
Prdm2 A T 4: 142,860,761 (GRCm39) V843E probably damaging Het
Prss56 C A 1: 87,115,708 (GRCm39) F527L probably damaging Het
Psmd11 T C 11: 80,329,146 (GRCm39) L88P probably damaging Het
Ptx3 G C 3: 66,132,412 (GRCm39) G311A probably damaging Het
Rars1 A T 11: 35,699,385 (GRCm39) L636H probably damaging Het
Rnft2 A G 5: 118,375,507 (GRCm39) S81P probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxra T A 2: 27,631,195 (GRCm39) I142N probably damaging Het
Scin T C 12: 40,154,931 (GRCm39) M221V probably benign Het
Sfmbt2 G A 2: 10,584,069 (GRCm39) V809I possibly damaging Het
Sirt1 T A 10: 63,157,783 (GRCm39) I505F probably benign Het
Six5 T C 7: 18,829,096 (GRCm39) Y179H probably damaging Het
Slc12a4 A C 8: 106,671,241 (GRCm39) M982R probably damaging Het
Slco4c1 T A 1: 96,765,237 (GRCm39) L404F probably damaging Het
Smn1 T C 13: 100,268,931 (GRCm39) L259P probably damaging Het
Sorl1 T G 9: 41,952,935 (GRCm39) D702A probably damaging Het
Spta1 A G 1: 174,065,400 (GRCm39) E1983G possibly damaging Het
Srsf1 T A 11: 87,940,788 (GRCm39) probably null Het
Stard9 C T 2: 120,536,900 (GRCm39) R4224* probably null Het
Sybu T G 15: 44,538,895 (GRCm39) M383L probably benign Het
Tbx15 A C 3: 99,259,583 (GRCm39) N485H possibly damaging Het
Tcerg1l A T 7: 137,819,786 (GRCm39) F485I probably damaging Het
Tdrd7 C A 4: 46,005,616 (GRCm39) T474N possibly damaging Het
Thada A T 17: 84,755,470 (GRCm39) probably null Het
Tnik A T 3: 28,704,235 (GRCm39) I1020F probably damaging Het
Tnxb A G 17: 34,914,566 (GRCm39) D1884G possibly damaging Het
Tprn T C 2: 25,158,845 (GRCm39) M623T probably damaging Het
Trdn T A 10: 33,350,413 (GRCm39) Y661N probably damaging Het
Ttc41 T C 10: 86,612,056 (GRCm39) S1110P possibly damaging Het
Ttc6 A C 12: 57,707,026 (GRCm39) R644S probably benign Het
Ttyh1 A T 7: 4,136,735 (GRCm39) M448L probably benign Het
Unc79 G T 12: 103,128,079 (GRCm39) C2250F probably damaging Het
Ush2a A G 1: 188,358,805 (GRCm39) I2110M probably benign Het
Uvssa G T 5: 33,571,257 (GRCm39) E634* probably null Het
Vac14 A C 8: 111,372,440 (GRCm39) T384P probably benign Het
Wdr11 A G 7: 129,235,445 (GRCm39) E1169G probably benign Het
Zfp36l1 T A 12: 80,157,298 (GRCm39) T28S probably benign Het
Zfp715 A T 7: 42,949,106 (GRCm39) Y285N possibly damaging Het
Zfp91 A T 19: 12,747,424 (GRCm39) D566E probably damaging Het
Zgrf1 G A 3: 127,396,085 (GRCm39) V544M probably damaging 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
IGL03114:Or52s1 APN 7 102,861,928 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTGGAGGAATAGGTCTAGCTG -3'
(R):5'- AATATATGCACTTGGGGAGCC -3'

Sequencing Primer
(F):5'- TTGTCATTCGGGGAATAGCC -3'
(R):5'- CACCTTGTGCCCAAATCTATGG -3'
Posted On 2016-03-17