Incidental Mutation 'R6461:Or51s1'
ID 517603
Institutional Source Beutler Lab
Gene Symbol Or51s1
Ensembl Gene ENSMUSG00000043310
Gene Name olfactory receptor family 51 subfamily S member 1
Synonyms Olfr571, MOR21-1, GA_x6K02T2PBJ9-5620890-5619922
MMRRC Submission 044390-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6461 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102558076-102559044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102558235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 270 (R270S)
Ref Sequence ENSEMBL: ENSMUSP00000148964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061738] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold E9Q407
Predicted Effect possibly damaging
Transcript: ENSMUST00000061738
AA Change: R270S

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: R270S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000214160
AA Change: R270S

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215773
AA Change: R270S

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T A 10: 85,476,428 (GRCm39) I903N probably damaging Het
Atp12a C T 14: 56,610,695 (GRCm39) R280C probably damaging Het
Dnmbp A G 19: 43,855,964 (GRCm39) probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fbxo40 T C 16: 36,790,390 (GRCm39) E240G probably benign Het
Gne T C 4: 44,060,078 (GRCm39) D105G probably damaging Het
Grin2c A T 11: 115,146,522 (GRCm39) M494K possibly damaging Het
Hnrnpk A G 13: 58,541,008 (GRCm39) probably null Het
Irf6 G C 1: 192,849,779 (GRCm39) G234R probably damaging Het
Lman2 A G 13: 55,494,728 (GRCm39) F347L probably damaging Het
Mcfd2 G A 17: 87,565,494 (GRCm39) T3I probably benign Het
Mon1b A G 8: 114,365,170 (GRCm39) D166G probably damaging Het
Mup10 T A 4: 60,538,078 (GRCm39) M4L unknown Het
Or13c7b T C 4: 43,821,355 (GRCm39) E2G probably benign Het
Or2h1b C T 17: 37,462,362 (GRCm39) C167Y probably damaging Het
Papln A G 12: 83,828,587 (GRCm39) probably null Het
Pelp1 A T 11: 70,287,132 (GRCm39) V522E probably damaging Het
Scn1a T C 2: 66,156,466 (GRCm39) D481G probably null Het
Scube1 G A 15: 83,496,628 (GRCm39) T791I probably damaging Het
Sec24a T C 11: 51,604,373 (GRCm39) I748V possibly damaging Het
Slc29a2 A G 19: 5,077,768 (GRCm39) T236A probably benign Het
Smarca4 T A 9: 21,590,316 (GRCm39) I1152N probably damaging Het
Syngap1 A G 17: 27,183,822 (GRCm39) I1026V probably damaging Het
Tnxb G T 17: 34,890,872 (GRCm39) R405L probably damaging Het
Zbtb11 G A 16: 55,827,234 (GRCm39) R900H probably damaging Het
Zfp142 T C 1: 74,606,344 (GRCm39) K1639R probably damaging Het
Other mutations in Or51s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Or51s1 APN 7 102,558,479 (GRCm39) missense probably damaging 1.00
IGL01457:Or51s1 APN 7 102,558,926 (GRCm39) missense possibly damaging 0.74
IGL01962:Or51s1 APN 7 102,559,054 (GRCm39) utr 5 prime probably benign
IGL02110:Or51s1 APN 7 102,558,402 (GRCm39) missense probably benign 0.13
R0306:Or51s1 UTSW 7 102,559,010 (GRCm39) missense probably benign
R0790:Or51s1 UTSW 7 102,558,843 (GRCm39) missense probably benign 0.02
R3791:Or51s1 UTSW 7 102,558,239 (GRCm39) missense probably benign 0.14
R6793:Or51s1 UTSW 7 102,558,935 (GRCm39) missense probably benign 0.00
R8327:Or51s1 UTSW 7 102,558,926 (GRCm39) missense probably damaging 0.98
R8860:Or51s1 UTSW 7 102,558,336 (GRCm39) missense probably benign 0.19
R9532:Or51s1 UTSW 7 102,558,746 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTTGGGAGTTCTTTACCACAAC -3'
(R):5'- ACAGCCTGGTTGTGGTACTG -3'

Sequencing Primer
(F):5'- GGAGTTCTTTACCACAACCATATAGG -3'
(R):5'- TGGTACTGTCAGCAATGGTACTAGAC -3'
Posted On 2018-05-21