Incidental Mutation 'IGL02024:Or6s1'
ID 184105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6s1
Ensembl Gene ENSMUSG00000035932
Gene Name olfactory receptor family 6 subfamily S member 1
Synonyms GA_x6K02T2PMLR-6808276-6807281, MOR103-18, Olfr750
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL02024
Quality Score
Status
Chromosome 14
Chromosomal Location 51307768-51308899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 51308766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 28 (E28A)
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: E28A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000036596
Gene: ENSMUSG00000035932
AA Change: E28A

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: E28A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,113,705 (GRCm39) H246Y probably damaging Het
Abat G A 16: 8,429,000 (GRCm39) A322T probably damaging Het
Bcat1 A G 6: 144,978,564 (GRCm39) V152A probably damaging Het
Btaf1 A G 19: 36,969,826 (GRCm39) probably benign Het
Elavl2 T C 4: 91,141,776 (GRCm39) T291A probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Fcgbp G A 7: 27,805,799 (GRCm39) C2026Y probably damaging Het
Fcgrt T A 7: 44,744,682 (GRCm39) H258L probably damaging Het
Galnt6 C T 15: 100,601,374 (GRCm39) D302N probably benign Het
Gldc T A 19: 30,078,227 (GRCm39) R923S probably damaging Het
Hspg2 G T 4: 137,267,384 (GRCm39) A2033S probably damaging Het
Htr2c T A X: 145,858,921 (GRCm39) M77K probably damaging Het
Ifi208 A G 1: 173,510,856 (GRCm39) Y337C probably damaging Het
Ints11 G T 4: 155,972,972 (GRCm39) W554L probably damaging Het
Itgbl1 T A 14: 124,094,904 (GRCm39) C186S probably damaging Het
Lipf A G 19: 33,953,995 (GRCm39) Y362C probably damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Mroh9 T G 1: 162,890,071 (GRCm39) N222T possibly damaging Het
Msl3 C A X: 167,453,247 (GRCm39) R89L probably benign Het
Nrip1 T A 16: 76,088,563 (GRCm39) D998V probably benign Het
Nrk T A X: 137,896,678 (GRCm39) I1265N probably damaging Het
Ntn5 A G 7: 45,340,830 (GRCm39) probably benign Het
Or11g27 A G 14: 50,771,307 (GRCm39) N146S probably benign Het
Or5w20 A T 2: 87,727,243 (GRCm39) R233S possibly damaging Het
Plch2 T C 4: 155,127,595 (GRCm39) probably benign Het
Porcn C T X: 8,067,901 (GRCm39) V233I probably benign Het
Ppp2r2a T C 14: 67,276,361 (GRCm39) K48R probably benign Het
Ppp4r3c1 G A X: 88,975,129 (GRCm39) T356I probably benign Het
Rccd1 A T 7: 79,968,755 (GRCm39) D268E probably benign Het
Sacs C A 14: 61,427,127 (GRCm39) S178R probably damaging Het
Samd12 T A 15: 53,521,862 (GRCm39) D116V probably damaging Het
Slc12a8 A G 16: 33,428,568 (GRCm39) E46G probably damaging Het
Slc30a10 A T 1: 185,187,438 (GRCm39) I60F possibly damaging Het
Slc6a8 C T X: 72,722,583 (GRCm39) probably benign Het
Sos2 A G 12: 69,664,822 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,783,338 (GRCm39) V79A probably benign Het
Tmem184c A T 8: 78,331,443 (GRCm39) V102E probably benign Het
Ttc19 G T 11: 62,203,939 (GRCm39) R300I probably damaging Het
Unc5d T A 8: 29,142,855 (GRCm39) I866F probably benign Het
Vmn1r7 A T 6: 57,001,874 (GRCm39) C129S probably benign Het
Vps41 T A 13: 18,975,827 (GRCm39) probably benign Het
Vwa8 C T 14: 79,331,724 (GRCm39) A1275V possibly damaging Het
Other mutations in Or6s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07