Incidental Mutation 'R5878:Or6s1'
ID 455673
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 044084-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R5878 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51307768-51308899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51308449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 134 (Y134H)
Ref Sequence ENSEMBL: ENSMUSP00000150180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048478] [ENSMUST00000216202]
AlphaFold E9Q0Z1
Predicted Effect probably damaging
Transcript: ENSMUST00000048478
AA Change: Y134H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036596
Gene: ENSMUSG00000035932
AA Change: Y134H

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 damaging
Transcript: ENSMUST00000216202
AA Change: Y134H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 99% (66/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,385,792 (GRCm39) N275K possibly damaging Het
Abhd6 G A 14: 8,028,286 (GRCm38) V6I probably benign Het
Afap1l2 T C 19: 56,904,107 (GRCm39) T727A probably benign Het
Aggf1 T C 13: 95,506,065 (GRCm39) E174G probably benign Het
Ahnak T G 19: 8,985,706 (GRCm39) L2330R probably damaging Het
Arb2a T A 13: 78,100,186 (GRCm39) V129E probably damaging Het
Arfgef2 A G 2: 166,712,137 (GRCm39) T1205A probably benign Het
Ccdc3 T C 2: 5,233,827 (GRCm39) L217P probably benign Het
Cfap54 T C 10: 92,800,423 (GRCm39) D1595G probably benign Het
Cps1 G T 1: 67,197,037 (GRCm39) probably null Het
Fam120b A G 17: 15,622,502 (GRCm39) D160G probably damaging Het
Fezf1 C A 6: 23,247,580 (GRCm39) R165L possibly damaging Het
Fkbp15 A T 4: 62,225,145 (GRCm39) L838H probably benign Het
Frmd3 G A 4: 74,071,847 (GRCm39) G243D probably damaging Het
Gldc A T 19: 30,120,867 (GRCm39) probably null Het
Gm10188 T C 1: 132,156,940 (GRCm39) probably benign Het
Gm5190 T A 12: 113,360,859 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,208,628 (GRCm39) probably null Het
Hdhd5 A G 6: 120,491,485 (GRCm39) L206P probably damaging Het
Herc2 A G 7: 55,773,996 (GRCm39) N1149S probably benign Het
Inca1 G A 11: 70,586,808 (GRCm39) probably benign Het
Iqch G A 9: 63,455,272 (GRCm39) S175F probably damaging Het
Itpr3 T G 17: 27,329,836 (GRCm39) D1543E probably benign Het
Khk T A 5: 31,088,219 (GRCm39) probably null Het
Kiz C T 2: 146,731,521 (GRCm39) S337L probably damaging Het
Lzts3 G A 2: 130,478,459 (GRCm39) T213I probably damaging Het
Mab21l2 T A 3: 86,454,025 (GRCm39) D325V probably damaging Het
Mctp2 A G 7: 71,863,856 (GRCm39) S336P probably benign Het
Me3 T A 7: 89,497,214 (GRCm39) L405Q probably benign Het
Mgst2 A T 3: 51,568,651 (GRCm39) probably benign Het
Myh2 A G 11: 67,083,330 (GRCm39) E1431G probably damaging Het
Naip6 A G 13: 100,436,181 (GRCm39) S781P probably damaging Het
Nr3c2 A G 8: 77,634,897 (GRCm39) probably null Het
Or10ab5 A T 7: 108,244,946 (GRCm39) L279Q probably damaging Het
Or6x1 C T 9: 40,098,867 (GRCm39) T152I probably benign Het
Otop1 G T 5: 38,435,166 (GRCm39) R132L possibly damaging Het
Parg T A 14: 31,939,619 (GRCm39) D548E possibly damaging Het
Pcdhga4 G T 18: 37,820,739 (GRCm39) G763W probably benign Het
Pde10a A G 17: 9,168,204 (GRCm39) N9S possibly damaging Het
Pi4k2a T C 19: 42,089,080 (GRCm39) I147T probably benign Het
Polh T A 17: 46,505,251 (GRCm39) T122S probably damaging Het
Ptpn13 T C 5: 103,624,984 (GRCm39) V96A possibly damaging Het
Ptpn6 C A 6: 124,705,748 (GRCm39) C132F probably damaging Het
Rbm19 T A 5: 120,270,932 (GRCm39) V585E probably damaging Het
Relch T A 1: 105,620,685 (GRCm39) S387T probably benign Het
Rp1l1 C T 14: 64,266,355 (GRCm39) P647L probably benign Het
Rrp1b A G 17: 32,266,649 (GRCm39) E72G probably damaging Het
Shcbp1 A T 8: 4,798,742 (GRCm39) H392Q probably benign Het
Skic2 C T 17: 35,065,093 (GRCm39) R371Q possibly damaging Het
Slc13a5 G A 11: 72,144,217 (GRCm39) T287I possibly damaging Het
Slc22a27 T A 19: 7,904,122 (GRCm39) E5V probably benign Het
Slc38a2 A G 15: 96,590,465 (GRCm39) V293A probably damaging Het
Slco6d1 T A 1: 98,391,561 (GRCm39) probably benign Het
Sri G C 5: 8,109,353 (GRCm39) D46H probably damaging Het
Tango6 A G 8: 107,415,800 (GRCm39) D207G possibly damaging Het
Tigd4 T C 3: 84,501,749 (GRCm39) M222T probably benign Het
Tmem229a T C 6: 24,955,172 (GRCm39) D194G probably benign Het
Trank1 T C 9: 111,195,753 (GRCm39) V1259A possibly damaging Het
Trdv5 T C 14: 54,386,255 (GRCm39) D70G probably benign Het
Trim52 T A 14: 106,344,375 (GRCm39) M11K probably damaging Het
Wdr62 A G 7: 29,940,772 (GRCm39) M882T probably benign Het
Ybx3 A G 6: 131,344,726 (GRCm39) probably null Het
Zfand2b A G 1: 75,147,154 (GRCm39) probably benign Het
Zfp91 T A 19: 12,747,684 (GRCm39) T480S 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
R2179:Or6s1 UTSW 14 51,308,238 (GRCm39) missense probably benign 0.00
R2249:Or6s1 UTSW 14 51,307,870 (GRCm39) nonsense probably null
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'- AAAGTCAGCCTCCTCCAGTC -3'
(R):5'- CCTGCCTCGAGATTCTGATCAC -3'

Sequencing Primer
(F):5'- TTGGTACATGCCAGGTGAAGC -3'
(R):5'- ACTTCTGTCATCATTCCGAAGATG -3'
Posted On 2017-02-10