Incidental Mutation 'R0790:Or51s1'
ID 76431
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 038970-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0790 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102558076-102559044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102558843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 68 (Y68H)
Ref Sequence ENSEMBL: ENSMUSP00000148964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061738] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold E9Q407
Predicted Effect probably benign
Transcript: ENSMUST00000061738
AA Change: Y68H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: Y68H

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 probably benign
Transcript: ENSMUST00000214160
AA Change: Y68H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000215773
AA Change: Y68H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.0%
Validation Efficiency 100% (41/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob A G 12: 8,060,245 (GRCm39) E2876G probably damaging Het
Arhgef28 A G 13: 98,117,914 (GRCm39) S585P possibly damaging Het
Atp11b T A 3: 35,887,072 (GRCm39) N685K probably damaging Het
Camsap2 C T 1: 136,201,475 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,316,935 (GRCm39) probably benign Het
Cdc23 A G 18: 34,784,666 (GRCm39) I32T possibly damaging Het
Cdca2 C T 14: 67,917,740 (GRCm39) D553N probably benign Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Chit1 T G 1: 134,066,490 (GRCm39) V2G probably benign Het
Col4a4 G A 1: 82,502,717 (GRCm39) P356S unknown Het
Cpsf4l A G 11: 113,597,234 (GRCm39) probably benign Het
Etaa1 G T 11: 17,896,051 (GRCm39) Q689K probably benign Het
Fam83h C T 15: 75,875,241 (GRCm39) V699I probably benign Het
Fry A G 5: 150,389,902 (GRCm39) D2545G probably benign Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Kif5a T C 10: 127,081,878 (GRCm39) probably benign Het
Lifr A G 15: 7,215,196 (GRCm39) T768A probably benign Het
Mrap2 T C 9: 87,064,835 (GRCm39) L192P possibly damaging Het
Myo18a G A 11: 77,731,535 (GRCm39) R840Q possibly damaging Het
Myrfl T C 10: 116,653,693 (GRCm39) D458G probably damaging Het
Or12j4 T C 7: 140,046,962 (GRCm39) S283P possibly damaging Het
Pcdh15 A G 10: 74,466,885 (GRCm39) E1034G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcb2 G A 2: 118,542,964 (GRCm39) probably benign Het
Psmd1 T C 1: 86,005,172 (GRCm39) V202A possibly damaging Het
Raet1d T C 10: 22,246,795 (GRCm39) I41T probably damaging Het
Retnlb T A 16: 48,637,589 (GRCm39) L5Q possibly damaging Het
Sh3rf1 T C 8: 61,782,292 (GRCm39) Y145H probably damaging Het
Smad7 C T 18: 75,526,933 (GRCm39) H260Y probably benign Het
Stk10 T C 11: 32,548,653 (GRCm39) V407A probably benign Het
Synpo A G 18: 60,736,575 (GRCm39) V218A probably damaging Het
Tll2 T A 19: 41,092,289 (GRCm39) Y499F probably damaging Het
Vrk1 C T 12: 106,036,883 (GRCm39) P390S probably benign Het
Zfp748 A C 13: 67,693,481 (GRCm39) L64W probably benign 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
R3791:Or51s1 UTSW 7 102,558,239 (GRCm39) missense probably benign 0.14
R6461:Or51s1 UTSW 7 102,558,235 (GRCm39) missense possibly damaging 0.62
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'- CAGGCAGTAAGAATGTGTCAGGACC -3'
(R):5'- ATGTCACCATTGTCCGCCCAAG -3'

Sequencing Primer
(F):5'- CAATGGCTACGGCAATCTTG -3'
(R):5'- ATTGTCCGCCCAAGATACCTC -3'
Posted On 2013-10-16