Incidental Mutation 'R3945:Or1s2'
ID 307679
Institutional Source Beutler Lab
Gene Symbol Or1s2
Ensembl Gene ENSMUSG00000048356
Gene Name olfactory receptor family 1 subfamily S member 1
Synonyms GA_x6K02T2RE5P-4112771-4113718, MOR127-1, Olfr1496
MMRRC Submission 040926-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R3945 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13757912-13758978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13758786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 270 (E270G)
Ref Sequence ENSEMBL: ENSMUSP00000151386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057390] [ENSMUST00000209137] [ENSMUST00000219412]
AlphaFold B9EHG2
Predicted Effect probably benign
Transcript: ENSMUST00000057390
AA Change: E268G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054924
Gene: ENSMUSG00000048356
AA Change: E268G

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 1.7e-57 PFAM
Pfam:7TM_GPCR_Srsx 37 307 1.4e-8 PFAM
Pfam:7tm_1 43 292 3.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209137
AA Change: E268G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000219412
AA Change: E270G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0748 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (54/54)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,949,601 (GRCm39) L1166P probably damaging Het
Actn4 T C 7: 28,611,661 (GRCm39) probably null Het
Adamts17 A T 7: 66,770,687 (GRCm39) E905V probably benign Het
Adck5 A G 15: 76,479,400 (GRCm39) N485S probably damaging Het
Agr3 C A 12: 35,997,512 (GRCm39) probably benign Het
Ankrd12 G A 17: 66,283,098 (GRCm39) T1921I probably damaging Het
Ascl2 T C 7: 142,521,708 (GRCm39) S247G probably benign Het
Atp7b T C 8: 22,510,880 (GRCm39) E422G probably benign Het
Bltp2 T C 11: 78,180,790 (GRCm39) I2229T probably damaging Het
C630050I24Rik C T 8: 107,845,894 (GRCm39) R15* probably null Het
Cabin1 T G 10: 75,581,093 (GRCm39) Q411P probably damaging Het
Chrne T C 11: 70,507,869 (GRCm39) I277V possibly damaging Het
Coch A G 12: 51,648,595 (GRCm39) probably null Het
Corin A G 5: 72,515,767 (GRCm39) V429A probably damaging Het
Cpa3 A T 3: 20,279,281 (GRCm39) N219K probably damaging Het
Creb3l1 T C 2: 91,821,556 (GRCm39) E273G probably damaging Het
Csmd1 A C 8: 15,960,619 (GRCm39) probably null Het
Ddx59 A G 1: 136,362,356 (GRCm39) D527G probably damaging Het
Defa25 G A 8: 21,574,506 (GRCm39) V17I probably null Het
Efs A G 14: 55,158,108 (GRCm39) probably benign Het
Ern2 A G 7: 121,775,753 (GRCm39) M447T probably benign Het
Fgfr2 C T 7: 129,779,485 (GRCm39) E596K possibly damaging Het
Filip1 T C 9: 79,725,649 (GRCm39) K990R probably benign Het
Ipo8 T A 6: 148,719,615 (GRCm39) Q110L probably damaging Het
Kank4 T A 4: 98,659,517 (GRCm39) I854F probably damaging Het
Mst1 G A 9: 107,962,052 (GRCm39) C681Y probably damaging Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or4f4b C T 2: 111,314,032 (GRCm39) Q86* probably null Het
Pde11a T C 2: 75,906,275 (GRCm39) probably benign Het
Ptprq A G 10: 107,522,253 (GRCm39) probably benign Het
Rcbtb1 G A 14: 59,462,225 (GRCm39) probably null Het
Rpl37 G A 15: 5,147,176 (GRCm39) R72H probably benign Het
Samd9l A T 6: 3,377,029 (GRCm39) S77R possibly damaging Het
Sin3b A G 8: 73,460,067 (GRCm39) D218G possibly damaging Het
Slc22a23 A G 13: 34,367,109 (GRCm39) I633T probably damaging Het
Spen T C 4: 141,204,664 (GRCm39) D1321G unknown Het
Ssh2 T C 11: 77,345,494 (GRCm39) S1160P possibly damaging Het
Synrg T A 11: 83,914,232 (GRCm39) D952E probably damaging Het
Tigd3 A G 19: 5,942,461 (GRCm39) F223S probably damaging Het
Trim66 G A 7: 109,071,475 (GRCm39) T608I possibly damaging Het
Trmt13 A G 3: 116,375,167 (GRCm39) F447S probably damaging Het
Trpc2 T C 7: 101,737,486 (GRCm39) I800T possibly damaging Het
Ugt3a1 A T 15: 9,370,184 (GRCm39) I443F possibly damaging Het
Vamp2 C A 11: 68,980,000 (GRCm39) P24Q unknown Het
Vmn1r113 A G 7: 20,521,637 (GRCm39) Y143C probably benign Het
Vmn1r14 T A 6: 57,211,254 (GRCm39) N277K probably benign Het
Vmn1r181 T A 7: 23,683,577 (GRCm39) V14E probably damaging Het
Wdfy4 A T 14: 32,688,352 (GRCm39) I3086N probably damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Or1s2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Or1s2 APN 19 13,758,937 (GRCm39) utr 3 prime probably benign
IGL01577:Or1s2 APN 19 13,758,162 (GRCm39) missense probably damaging 1.00
IGL02080:Or1s2 APN 19 13,758,846 (GRCm39) missense probably damaging 1.00
IGL03111:Or1s2 APN 19 13,758,343 (GRCm39) nonsense probably null
R0829:Or1s2 UTSW 19 13,758,556 (GRCm39) missense probably damaging 0.99
R4395:Or1s2 UTSW 19 13,758,275 (GRCm39) missense probably benign 0.01
R4791:Or1s2 UTSW 19 13,758,706 (GRCm39) nonsense probably null
R7299:Or1s2 UTSW 19 13,758,688 (GRCm39) nonsense probably null
R7762:Or1s2 UTSW 19 13,758,650 (GRCm39) missense probably damaging 0.99
R7861:Or1s2 UTSW 19 13,758,810 (GRCm39) missense possibly damaging 0.91
R8496:Or1s2 UTSW 19 13,758,384 (GRCm39) missense probably benign
R8814:Or1s2 UTSW 19 13,758,897 (GRCm39) missense possibly damaging 0.90
R8838:Or1s2 UTSW 19 13,758,381 (GRCm39) missense probably benign 0.31
R9091:Or1s2 UTSW 19 13,758,333 (GRCm39) missense probably benign 0.01
R9270:Or1s2 UTSW 19 13,758,333 (GRCm39) missense probably benign 0.01
R9555:Or1s2 UTSW 19 13,758,360 (GRCm39) missense probably damaging 1.00
R9675:Or1s2 UTSW 19 13,758,639 (GRCm39) missense possibly damaging 0.70
Z1177:Or1s2 UTSW 19 13,758,888 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GGGATTATCAGTCATCACCTTTCC -3'
(R):5'- AAGCACTTATCACTCAGAGTTGG -3'

Sequencing Primer
(F):5'- ATTATCAGTCATCACCTTTCCCTTTG -3'
(R):5'- CTTATCACTCAGAGTTGGAAGTAGG -3'
Posted On 2015-04-17