Incidental Mutation 'R6709:Or6s1'
ID 529076
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 044827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R6709 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51307768-51308899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51308286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 188 (L188H)
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: L188H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036596
Gene: ENSMUSG00000035932
AA Change: L188H

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: L188H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4624 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,552,779 (GRCm39) D36G possibly damaging Het
Actn1 T A 12: 80,240,418 (GRCm39) D223V probably damaging Het
Adgre1 A T 17: 57,713,917 (GRCm39) N201Y probably benign Het
Agbl4 T A 4: 111,423,979 (GRCm39) probably benign Het
Atg4d T C 9: 21,179,944 (GRCm39) Y272H probably damaging Het
Ccdc39 T C 3: 33,884,242 (GRCm39) T367A possibly damaging Het
Ceacam2 T C 7: 25,229,262 (GRCm39) T293A possibly damaging Het
Col19a1 C T 1: 24,321,577 (GRCm39) G977E probably damaging Het
Csnka2ip A T 16: 64,298,932 (GRCm39) H33Q possibly damaging Het
Cyp3a44 A T 5: 145,714,902 (GRCm39) probably null Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dnah12 A G 14: 26,594,706 (GRCm39) D3492G probably damaging Het
Eepd1 A T 9: 25,394,164 (GRCm39) T143S probably benign Het
Eml2 A G 7: 18,940,136 (GRCm39) *650W probably null Het
Etv1 C T 12: 38,833,796 (GRCm39) T19I possibly damaging Het
Fam133b T C 5: 3,619,059 (GRCm39) probably benign Het
Fgd4 T C 16: 16,302,345 (GRCm39) H70R probably benign Het
Galnt11 C T 5: 25,453,851 (GRCm39) R26C probably damaging Het
Gm136 T A 4: 34,755,884 (GRCm39) Y43F probably damaging Het
Gm17409 A T 2: 58,361,088 (GRCm39) probably null Het
Gm5591 A G 7: 38,221,499 (GRCm39) I190T probably benign Het
H1f9 T A 11: 94,858,772 (GRCm39) S22R possibly damaging Het
Htra1 C T 7: 130,537,948 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints8 A T 4: 11,221,117 (GRCm39) Y753N possibly damaging Het
Itprid2 A G 2: 79,475,276 (GRCm39) T412A probably benign Het
L3mbtl3 G A 10: 26,158,695 (GRCm39) T651I unknown Het
Ltb4r2 A C 14: 55,999,990 (GRCm39) T204P possibly damaging Het
Ltbp3 G A 19: 5,797,885 (GRCm39) probably null Het
Mlxip A T 5: 123,585,339 (GRCm39) I616F possibly damaging Het
Mpz A T 1: 170,978,301 (GRCm39) probably benign Het
Myh11 A G 16: 14,041,358 (GRCm39) probably null Het
Myo7a A G 7: 97,703,906 (GRCm39) L1949P probably damaging Het
Olfm2 A G 9: 20,584,009 (GRCm39) Y116H probably damaging Het
Or2t47 T C 11: 58,442,862 (GRCm39) M68V probably benign Het
Pde4d T G 13: 110,084,813 (GRCm39) L470R probably damaging Het
Plxna2 T A 1: 194,472,074 (GRCm39) N1013K probably benign Het
Ptpn13 A C 5: 103,734,622 (GRCm39) Q2118P probably benign Het
Pwwp2a C G 11: 43,595,554 (GRCm39) L240V probably damaging Het
Reep2 T C 18: 34,979,263 (GRCm39) L196P probably benign Het
Shank1 A T 7: 44,003,600 (GRCm39) N1765I probably benign Het
Slc25a13 A G 6: 6,073,440 (GRCm39) S473P possibly damaging Het
Slc33a1 C A 3: 63,852,122 (GRCm39) M450I possibly damaging Het
Slc45a2 A G 15: 11,001,216 (GRCm39) Y105C possibly damaging Het
Slc4a11 A T 2: 130,526,616 (GRCm39) L812Q probably damaging Het
Sox6 T C 7: 115,301,024 (GRCm39) probably null Het
Sv2b A T 7: 74,773,887 (GRCm39) M528K probably benign Het
Syngr4 A G 7: 45,538,122 (GRCm39) V82A probably benign Het
Tmem185b G A 1: 119,454,604 (GRCm39) V122I probably benign Het
Trdn A G 10: 33,340,587 (GRCm39) D607G probably benign Het
Trim10 T A 17: 37,183,262 (GRCm39) I186N probably damaging Het
Trp53i11 A T 2: 93,030,163 (GRCm39) M157L probably benign Het
Ubr3 C A 2: 69,843,436 (GRCm39) H1559N probably damaging Het
Usp25 A C 16: 76,880,820 (GRCm39) E727A probably benign Het
Vmn2r42 T A 7: 8,195,618 (GRCm39) R509S probably benign Het
Vmn2r69 T C 7: 85,061,069 (GRCm39) N172D probably benign Het
Zfp14 T C 7: 29,737,557 (GRCm39) Y476C probably 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
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
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'- GGGTTACCACCATCAAGTGAG -3'
(R):5'- CATGTCTGTGGATCGCTACCTG -3'

Sequencing Primer
(F):5'- GGTTACCACCATCAAGTGAGAAGTAC -3'
(R):5'- GATCGCTACCTGGCCATCTG -3'
Posted On 2018-07-24