Incidental Mutation 'R9265:Or52s6'
ID 702481
Institutional Source Beutler Lab
Gene Symbol Or52s6
Ensembl Gene ENSMUSG00000109659
Gene Name olfactory receptor family 52 subfamily S member 6
Synonyms MOR24-5, GA_x6K02T2PBJ9-6164792-6163848, MOR202-22P, Olfr605
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R9265 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103091347-103092357 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 103092165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 55 (R55L)
Ref Sequence ENSEMBL: ENSMUSP00000151125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080660] [ENSMUST00000215417]
AlphaFold E9Q838
Predicted Effect possibly damaging
Transcript: ENSMUST00000080660
AA Change: R55L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079489
Gene: ENSMUSG00000109659
AA Change: R55L

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 8.6e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 305 1.9e-9 PFAM
Pfam:7tm_1 43 294 6.1e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215417
AA Change: R55L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (46/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a2 T C 11: 61,153,094 (GRCm39) K211E probably damaging Het
Apba2 G T 7: 64,393,020 (GRCm39) A514S probably damaging Het
Aspm C T 1: 139,389,182 (GRCm39) T615I probably benign Het
Atrnl1 T A 19: 57,766,359 (GRCm39) F1232Y probably benign Het
B4galt3 A G 1: 171,101,617 (GRCm39) D197G probably damaging Het
Calcrl T G 2: 84,200,400 (GRCm39) N127H possibly damaging Het
Camkv T G 9: 107,825,262 (GRCm39) I421S possibly damaging Het
Cdc123 T C 2: 5,808,765 (GRCm39) D237G possibly damaging Het
Cilp A G 9: 65,187,333 (GRCm39) T1143A probably benign Het
Col5a1 G A 2: 27,854,123 (GRCm39) R569K unknown Het
Cpn1 T C 19: 43,958,599 (GRCm39) I201V probably damaging Het
Cr1l T C 1: 194,806,027 (GRCm39) D152G probably benign Het
Csf2rb A T 15: 78,232,746 (GRCm39) E684D probably benign Het
Csmd2 A T 4: 128,294,163 (GRCm39) N1164I Het
Ddx42 A G 11: 106,132,435 (GRCm39) N486S probably benign Het
Dnah6 A G 6: 73,060,040 (GRCm39) I2848T probably benign Het
Dnah7a T C 1: 53,674,505 (GRCm39) D424G probably benign Het
Dnah9 T C 11: 65,732,081 (GRCm39) H4275R probably benign Het
Epha6 G A 16: 59,476,117 (GRCm39) T1083M probably damaging Het
Fzd1 A G 5: 4,807,216 (GRCm39) I122T probably damaging Het
Gm28042 T C 2: 119,871,705 (GRCm39) F914S probably damaging Het
Gpatch11 A G 17: 79,146,547 (GRCm39) D64G probably benign Het
Hinfp A G 9: 44,209,083 (GRCm39) V345A possibly damaging Het
Hoxd8 C T 2: 74,536,115 (GRCm39) S75L probably benign Het
Igsf1 A G X: 48,884,191 (GRCm39) M2T possibly damaging Het
Krt42 C T 11: 100,157,808 (GRCm39) E219K probably damaging Het
Mcm3 C A 1: 20,879,905 (GRCm39) D531Y probably damaging Het
Msantd1 C T 5: 35,080,861 (GRCm39) R264* probably null Het
Nadk2 A G 15: 9,071,774 (GRCm39) T65A probably damaging Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Neb T C 2: 52,089,456 (GRCm39) D5172G probably null Het
Nlrp9a G T 7: 26,258,038 (GRCm39) R552I possibly damaging Het
Nr3c2 A G 8: 77,636,236 (GRCm39) T446A probably benign Het
Or4x11 T C 2: 89,867,842 (GRCm39) I193T probably benign Het
Or51g2 C T 7: 102,623,112 (GRCm39) W29* probably null Het
Or7g21 T A 9: 19,032,984 (GRCm39) C241* probably null Het
Pcdhb10 A G 18: 37,546,553 (GRCm39) Q543R possibly damaging Het
Pcdhga6 A G 18: 37,841,102 (GRCm39) H274R possibly damaging Het
Pknox1 A G 17: 31,809,672 (GRCm39) D92G probably damaging Het
Pnpla6 C T 8: 3,573,294 (GRCm39) P386L probably benign Het
Rlf G C 4: 121,007,487 (GRCm39) P608A possibly damaging Het
Sardh A T 2: 27,105,065 (GRCm39) I686N probably damaging Het
Sstr3 G T 15: 78,423,792 (GRCm39) N318K probably damaging Het
St6gal1 A G 16: 23,140,168 (GRCm39) Y113C probably damaging Het
Syndig1 T C 2: 149,845,160 (GRCm39) F228L probably damaging Het
Ttll5 T A 12: 85,937,795 (GRCm39) C375* probably null Het
Zscan4c T A 7: 10,740,824 (GRCm39) S114R probably benign Het
Other mutations in Or52s6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Or52s6 APN 7 103,092,159 (GRCm39) missense probably damaging 1.00
IGL03219:Or52s6 APN 7 103,091,745 (GRCm39) missense possibly damaging 0.51
IGL03265:Or52s6 APN 7 103,091,655 (GRCm39) missense probably benign 0.18
IGL03404:Or52s6 APN 7 103,092,195 (GRCm39) missense possibly damaging 0.78
R0294:Or52s6 UTSW 7 103,092,291 (GRCm39) missense possibly damaging 0.77
R0465:Or52s6 UTSW 7 103,092,042 (GRCm39) missense possibly damaging 0.67
R4698:Or52s6 UTSW 7 103,091,842 (GRCm39) missense possibly damaging 0.88
R4758:Or52s6 UTSW 7 103,092,076 (GRCm39) missense probably damaging 1.00
R5447:Or52s6 UTSW 7 103,092,147 (GRCm39) missense probably damaging 0.99
R5595:Or52s6 UTSW 7 103,091,635 (GRCm39) missense probably damaging 1.00
R7196:Or52s6 UTSW 7 103,092,204 (GRCm39) missense probably benign 0.15
R7202:Or52s6 UTSW 7 103,092,292 (GRCm39) missense probably benign 0.00
R7291:Or52s6 UTSW 7 103,091,995 (GRCm39) missense probably benign 0.00
R7636:Or52s6 UTSW 7 103,092,040 (GRCm39) missense probably damaging 1.00
R8814:Or52s6 UTSW 7 103,092,120 (GRCm39) missense probably benign 0.29
R9170:Or52s6 UTSW 7 103,091,850 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAAGCCAGATTCCATGGC -3'
(R):5'- ATGCACTCTGTACGAAGAGG -3'

Sequencing Primer
(F):5'- CCAGATTCCATGGCAGTGAAACTATG -3'
(R):5'- TGCACTCTGTACGAAGAGGACTTC -3'
Posted On 2022-03-25