Incidental Mutation 'R0508:Or51a5'
ID 47723
Institutional Source Beutler Lab
Gene Symbol Or51a5
Ensembl Gene ENSMUSG00000066268
Gene Name olfactory receptor family 51 subfamily A member 5
Synonyms MOR8-7, MOR8-2, GA_x6K02T2PBJ9-5836380-5835439, Olfr586
MMRRC Submission 038703-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R0508 (G1)
Quality Score 202
Status Validated
Chromosome 7
Chromosomal Location 102771036-102771989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102771193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 262 (I262N)
Ref Sequence ENSEMBL: ENSMUSP00000149226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084811] [ENSMUST00000211075] [ENSMUST00000213281] [ENSMUST00000215304]
AlphaFold Q8VH13
Predicted Effect possibly damaging
Transcript: ENSMUST00000084811
AA Change: I266N

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081872
Gene: ENSMUSG00000066268
AA Change: I266N

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 6.1e-111 PFAM
Pfam:7TM_GPCR_Srsx 41 312 1.6e-11 PFAM
Pfam:7tm_1 47 297 1.7e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211075
AA Change: I262N

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213281
AA Change: I262N

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215304
AA Change: I262N

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,211,162 (GRCm39) L632P probably damaging Het
4833439L19Rik A G 13: 54,700,863 (GRCm39) probably null Het
Abca4 T C 3: 121,917,200 (GRCm39) probably benign Het
Adamts10 G T 17: 33,762,692 (GRCm39) G557V probably damaging Het
Adgrg6 T C 10: 14,326,360 (GRCm39) H424R probably benign Het
Ano4 T C 10: 88,816,839 (GRCm39) Q623R probably damaging Het
Ap1g1 T A 8: 110,564,364 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,702,222 (GRCm39) S1092P unknown Het
Arhgap32 A T 9: 32,101,364 (GRCm39) probably benign Het
Arhgap40 A T 2: 158,388,670 (GRCm39) S535C probably damaging Het
Atp9a T C 2: 168,491,446 (GRCm39) probably null Het
Bicral A T 17: 47,136,327 (GRCm39) H294Q possibly damaging Het
Ccdc121rt3 T C 5: 112,502,685 (GRCm39) K340E probably damaging Het
Cdhr5 T A 7: 140,852,812 (GRCm39) H58L probably benign Het
Cenpt T C 8: 106,576,147 (GRCm39) E100G possibly damaging Het
Cep97 A G 16: 55,750,969 (GRCm39) S16P probably benign Het
Clec2i T A 6: 128,870,663 (GRCm39) V67D probably damaging Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Coq6 G T 12: 84,414,913 (GRCm39) probably benign Het
Cyp1a1 A G 9: 57,607,588 (GRCm39) Q72R probably benign Het
Ep400 A G 5: 110,887,374 (GRCm39) S570P probably benign Het
Erbin T C 13: 103,970,535 (GRCm39) N1027S probably damaging Het
Exog T A 9: 119,277,444 (GRCm39) probably benign Het
Fahd1 A C 17: 25,068,975 (GRCm39) V34G probably benign Het
Fetub C T 16: 22,748,045 (GRCm39) R74W probably benign Het
Fhip2a T A 19: 57,367,174 (GRCm39) L239Q probably benign Het
Frmpd1 G A 4: 45,284,938 (GRCm39) G1253D unknown Het
Galnt12 A G 4: 47,104,255 (GRCm39) D171G probably damaging Het
Gm973 G T 1: 59,621,649 (GRCm39) probably benign Het
Hdlbp C A 1: 93,342,533 (GRCm39) probably null Het
Il1rl1 T A 1: 40,490,877 (GRCm39) I386N possibly damaging Het
Itgav T C 2: 83,623,002 (GRCm39) probably benign Het
Magoh A C 4: 107,742,195 (GRCm39) K114Q possibly damaging Het
Mdfic2 T C 6: 98,215,005 (GRCm39) probably benign Het
Mki67 A T 7: 135,302,075 (GRCm39) D986E probably benign Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Nckap5 T C 1: 125,909,121 (GRCm39) probably null Het
Neu1 A G 17: 35,151,760 (GRCm39) I185V probably benign Het
Nkiras1 T A 14: 18,278,524 (GRCm38) D79E probably damaging Het
Nkx3-1 A G 14: 69,428,350 (GRCm39) E66G probably benign Het
Osbpl11 T A 16: 33,016,465 (GRCm39) N73K probably benign Het
Otulin C T 15: 27,608,944 (GRCm39) V2I possibly damaging Het
Pdss2 CGGAG CG 10: 43,097,927 (GRCm39) probably benign Het
Pld2 T C 11: 70,443,368 (GRCm39) M421T probably damaging Het
Rgs11 A G 17: 26,426,443 (GRCm39) probably benign Het
Rrad A T 8: 105,356,500 (GRCm39) D133E possibly damaging Het
Scaf11 A G 15: 96,318,368 (GRCm39) S399P probably damaging Het
Sccpdh A G 1: 179,508,080 (GRCm39) probably null Het
Scn2a A G 2: 65,548,186 (GRCm39) E1126G probably damaging Het
Selenop T G 15: 3,305,202 (GRCm39) D119E probably benign Het
Serpinb3c T A 1: 107,204,651 (GRCm39) S32C probably damaging Het
Serpine1 C A 5: 137,093,770 (GRCm39) K315N probably benign Het
Slc27a1 T C 8: 72,032,872 (GRCm39) probably benign Het
Slc4a8 G A 15: 100,686,973 (GRCm39) R259Q probably benign Het
Smtnl2 C T 11: 72,293,962 (GRCm39) R198Q probably damaging Het
Spta1 A C 1: 174,052,023 (GRCm39) Y1819S probably damaging Het
Stard3 T A 11: 98,263,140 (GRCm39) I65N probably damaging Het
Tfrc T C 16: 32,448,997 (GRCm39) L712P probably damaging Het
Tmem201 G A 4: 149,816,343 (GRCm39) R62C probably damaging Het
Trim5 A T 7: 103,914,811 (GRCm39) F410L probably null Het
Txndc2 T A 17: 65,944,948 (GRCm39) I410F probably benign Het
Urb1 C T 16: 90,580,150 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,392 (GRCm39) F115L probably benign Het
Vnn1 T C 10: 23,770,910 (GRCm39) V46A probably benign Het
Xrn1 T A 9: 95,933,789 (GRCm39) S1615R probably benign Het
Zfand4 T A 6: 116,262,828 (GRCm39) C118S probably damaging Het
Zfp952 G A 17: 33,221,979 (GRCm39) E115K possibly damaging Het
Zfpm1 T C 8: 123,061,872 (GRCm39) F368L probably damaging Het
Other mutations in Or51a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02708:Or51a5 APN 7 102,771,027 (GRCm39) utr 3 prime probably benign
R0502:Or51a5 UTSW 7 102,771,643 (GRCm39) missense possibly damaging 0.94
R0503:Or51a5 UTSW 7 102,771,643 (GRCm39) missense possibly damaging 0.94
R0882:Or51a5 UTSW 7 102,771,782 (GRCm39) missense probably benign 0.09
R0962:Or51a5 UTSW 7 102,771,217 (GRCm39) missense possibly damaging 0.50
R1112:Or51a5 UTSW 7 102,771,611 (GRCm39) missense probably damaging 1.00
R2226:Or51a5 UTSW 7 102,771,115 (GRCm39) missense probably benign 0.06
R4285:Or51a5 UTSW 7 102,771,867 (GRCm39) nonsense probably null
R5817:Or51a5 UTSW 7 102,771,115 (GRCm39) missense possibly damaging 0.94
R6342:Or51a5 UTSW 7 102,771,563 (GRCm39) missense probably damaging 0.99
R6380:Or51a5 UTSW 7 102,771,136 (GRCm39) missense probably benign 0.02
R6565:Or51a5 UTSW 7 102,771,445 (GRCm39) missense probably damaging 0.99
R7861:Or51a5 UTSW 7 102,771,899 (GRCm39) missense probably benign 0.03
R7921:Or51a5 UTSW 7 102,771,635 (GRCm39) missense probably damaging 0.99
RF020:Or51a5 UTSW 7 102,771,098 (GRCm39) missense probably benign 0.05
Z1177:Or51a5 UTSW 7 102,771,598 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGAAGTTAACATACAGCATGAGCCC -3'
(R):5'- GCCTGCTCAGACAACAAGTTCAATG -3'

Sequencing Primer
(F):5'- AGCATGAGCCCTTAACTGATTC -3'
(R):5'- TTATTTGTGGCTCTCACAGGC -3'
Posted On 2013-06-12