Incidental Mutation 'R2179:Or6s1'
ID 237078
Institutional Source Beutler Lab
Gene Symbol Or6s1
Ensembl Gene ENSMUSG00000035932
Gene Name olfactory receptor family 6 subfamily S member 1
Synonyms GA_x6K02T2PMLR-6808276-6807281, MOR103-18, Olfr750
MMRRC Submission 040181-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R2179 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 51307768-51308899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51308238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 204 (V204A)
Ref Sequence ENSEMBL: ENSMUSP00000150180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048478] [ENSMUST00000216202]
AlphaFold E9Q0Z1
Predicted Effect probably benign
Transcript: ENSMUST00000048478
AA Change: V204A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000036596
Gene: ENSMUSG00000035932
AA Change: V204A

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 4.5e-49 PFAM
Pfam:7TM_GPCR_Srsx 37 183 1.3e-6 PFAM
Pfam:7tm_1 43 293 6.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216202
AA Change: V204A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,271,018 (GRCm39) D849G possibly damaging Het
Amz2 A G 11: 109,320,658 (GRCm39) H155R probably damaging Het
Cfhr4 G T 1: 139,659,279 (GRCm39) P679Q probably damaging Het
Chuk C A 19: 44,092,160 (GRCm39) C46F possibly damaging Het
Cp A T 3: 20,042,151 (GRCm39) D973V probably damaging Het
Cpm T A 10: 117,519,266 (GRCm39) D391E probably benign Het
Creb3 T C 4: 43,566,306 (GRCm39) S271P probably damaging Het
Cubn T A 2: 13,323,053 (GRCm39) H2838L possibly damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dnaaf2 C A 12: 69,245,071 (GRCm39) probably benign Het
Enpp3 T A 10: 24,681,793 (GRCm39) Q304H probably benign Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Fndc8 A C 11: 82,789,580 (GRCm39) K246T probably damaging Het
Gaa A G 11: 119,165,884 (GRCm39) probably null Het
Gucy2e A T 11: 69,119,404 (GRCm39) probably null Het
Igf1r A G 7: 67,653,698 (GRCm39) T79A probably damaging Het
Ikbkb C T 8: 23,171,769 (GRCm39) probably null Het
Il16 A T 7: 83,337,287 (GRCm39) probably null Het
Irs1 T A 1: 82,267,940 (GRCm39) H92L possibly damaging Het
Itpr2 A G 6: 146,277,464 (GRCm39) M315T probably benign Het
Lrba T G 3: 86,261,588 (GRCm39) L1514R probably damaging Het
Mcpt2 A G 14: 56,279,573 (GRCm39) probably benign Het
Metap1d A G 2: 71,283,715 (GRCm39) I5V probably benign Het
Mga T A 2: 119,790,923 (GRCm39) S2479T probably damaging Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Mroh2b G A 15: 4,950,928 (GRCm39) probably null Het
Mtfr1 C T 3: 19,254,308 (GRCm39) R15* probably null Het
Npm2 A G 14: 70,885,749 (GRCm39) V152A probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Ogdhl A G 14: 32,057,302 (GRCm39) N303D probably damaging Het
Or10g9 T C 9: 39,912,220 (GRCm39) Y101C probably benign Het
Or10q1b T C 19: 13,682,758 (GRCm39) V189A probably damaging Het
Or4d11 T C 19: 12,013,452 (GRCm39) Y218C probably damaging Het
Pah T C 10: 87,403,197 (GRCm39) F191L probably damaging Het
Paics A T 5: 77,109,291 (GRCm39) I209F probably damaging Het
Pcare T C 17: 72,059,521 (GRCm39) D52G probably damaging Het
Pld6 A G 11: 59,678,184 (GRCm39) L93P probably damaging Het
Plod3 T C 5: 137,019,862 (GRCm39) F431L possibly damaging Het
Ppm1b T A 17: 85,301,862 (GRCm39) D247E probably damaging Het
Prx A G 7: 27,217,410 (GRCm39) D637G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,679 (GRCm39) Y2656* probably null Het
Setd2 T A 9: 110,423,756 (GRCm39) Y492* probably null Het
Shmt1 A G 11: 60,697,825 (GRCm39) W9R possibly damaging Het
Slc25a17 A G 15: 81,222,151 (GRCm39) V107A probably benign Het
Sptlc1 A T 13: 53,505,675 (GRCm39) Y248N probably damaging Het
Stam2 T C 2: 52,584,936 (GRCm39) T453A probably benign Het
Tango2 G T 16: 18,128,762 (GRCm39) N77K probably damaging Het
Tas2r121 A T 6: 132,677,831 (GRCm39) I47N probably damaging Het
Terb1 A T 8: 105,179,347 (GRCm39) C614S probably damaging Het
Terb1 T C 8: 105,199,369 (GRCm39) N525S probably benign Het
Ttc6 A G 12: 57,719,904 (GRCm39) D825G possibly damaging Het
U90926 A T 5: 92,357,838 (GRCm39) H104Q probably benign Het
Zfand4 G A 6: 116,291,742 (GRCm39) A559T possibly damaging Het
Zfp462 T C 4: 55,009,524 (GRCm39) S497P possibly damaging Het
Other mutations in Or6s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Or6s1 APN 14 51,308,766 (GRCm39) missense probably benign 0.02
IGL03179:Or6s1 APN 14 51,308,467 (GRCm39) missense probably benign 0.01
IGL03047:Or6s1 UTSW 14 51,308,613 (GRCm39) missense possibly damaging 0.66
R0519:Or6s1 UTSW 14 51,308,614 (GRCm39) missense probably damaging 1.00
R1503:Or6s1 UTSW 14 51,308,191 (GRCm39) missense probably damaging 1.00
R1966:Or6s1 UTSW 14 51,308,614 (GRCm39) missense probably damaging 1.00
R2249:Or6s1 UTSW 14 51,307,870 (GRCm39) nonsense probably null
R5878:Or6s1 UTSW 14 51,308,449 (GRCm39) missense probably damaging 1.00
R5940:Or6s1 UTSW 14 51,308,179 (GRCm39) missense probably damaging 1.00
R6709:Or6s1 UTSW 14 51,308,286 (GRCm39) missense probably damaging 1.00
R7157:Or6s1 UTSW 14 51,308,616 (GRCm39) missense possibly damaging 0.49
R8904:Or6s1 UTSW 14 51,308,665 (GRCm39) missense probably damaging 1.00
RF013:Or6s1 UTSW 14 51,308,469 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGATGGCCTTACGTAGAG -3'
(R):5'- GCATTACCCCTTGCTAATGAATGG -3'

Sequencing Primer
(F):5'- CTTACGTAGAGGAAAATGGCACTTCC -3'
(R):5'- CCTTGCTAATGAATGGAGCCG -3'
Posted On 2014-10-02