Incidental Mutation 'IGL00236:Or51s1'
ID 2337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51s1
Ensembl Gene ENSMUSG00000043310
Gene Name olfactory receptor family 51 subfamily S member 1
Synonyms Olfr571, MOR21-1, GA_x6K02T2PBJ9-5620890-5619922
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # IGL00236
Quality Score
Chromosome 7
Chromosomal Location 102905090-102917536 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102909272 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 189 (H189R)
Ref Sequence ENSEMBL: ENSMUSP00000148964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061738] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold E9Q407
Predicted Effect probably damaging
Transcript: ENSMUST00000061738
AA Change: H189R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: H189R

Pfam:7tm_4 39 318 8.9e-91 PFAM
Pfam:7TM_GPCR_Srsx 43 177 3.1e-8 PFAM
Pfam:7tm_1 49 299 1.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214160
AA Change: H189R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215773
AA Change: H189R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,443,697 (GRCm38) V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 (GRCm38) S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 (GRCm38) L176P probably damaging Het
Caprin2 A G 6: 148,843,071 (GRCm38) I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 (GRCm38) probably benign Het
Cfap44 T C 16: 44,407,404 (GRCm38) L156P probably damaging Het
Dock9 A G 14: 121,668,468 (GRCm38) L90S probably benign Het
Efhb T C 17: 53,462,453 (GRCm38) D276G probably damaging Het
Ep300 A G 15: 81,641,418 (GRCm38) D1481G unknown Het
Fam83b T C 9: 76,490,978 (GRCm38) I948V probably benign Het
Fbxl5 G T 5: 43,765,336 (GRCm38) H247N probably damaging Het
Fn1 A G 1: 71,652,873 (GRCm38) I37T probably benign Het
Hfe C T 13: 23,705,852 (GRCm38) probably benign Het
Ighv1-36 A T 12: 114,880,150 (GRCm38) L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 (GRCm38) Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 (GRCm38) S619P probably damaging Het
Myh8 T C 11: 67,283,818 (GRCm38) I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 (GRCm38) V99M possibly damaging Het
Or5b124 A T 19: 13,633,539 (GRCm38) I143F probably benign Het
Pard6a T C 8: 105,702,814 (GRCm38) S135P probably damaging Het
Prss43 G T 9: 110,829,470 (GRCm38) Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 (GRCm38) N207D probably benign Het
Ros1 T C 10: 52,194,890 (GRCm38) I23V probably benign Het
Scg5 A G 2: 113,827,570 (GRCm38) probably benign Het
Sh3bp5 T A 14: 31,379,390 (GRCm38) K212* probably null Het
Slc25a30 C T 14: 75,766,925 (GRCm38) G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 (GRCm38) R689G probably damaging Het
Spatc1 A G 15: 76,284,794 (GRCm38) D321G probably damaging Het
Stat4 A T 1: 52,102,878 (GRCm38) Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 (GRCm38) V813I probably benign Het
Other mutations in Or51s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Or51s1 APN 7 102,909,719 (GRCm38) missense possibly damaging 0.74
IGL01962:Or51s1 APN 7 102,909,847 (GRCm38) utr 5 prime probably benign
IGL02110:Or51s1 APN 7 102,909,195 (GRCm38) missense probably benign 0.13
R0306:Or51s1 UTSW 7 102,909,803 (GRCm38) missense probably benign
R0790:Or51s1 UTSW 7 102,909,636 (GRCm38) missense probably benign 0.02
R3791:Or51s1 UTSW 7 102,909,032 (GRCm38) missense probably benign 0.14
R6461:Or51s1 UTSW 7 102,909,028 (GRCm38) missense possibly damaging 0.62
R6793:Or51s1 UTSW 7 102,909,728 (GRCm38) missense probably benign 0.00
R8327:Or51s1 UTSW 7 102,909,719 (GRCm38) missense probably damaging 0.98
R8860:Or51s1 UTSW 7 102,909,129 (GRCm38) missense probably benign 0.19
R9532:Or51s1 UTSW 7 102,909,539 (GRCm38) missense probably benign 0.02
Posted On 2011-12-09