Incidental Mutation 'R2912:Or5j3'
ID 261287
Institutional Source Beutler Lab
Gene Symbol Or5j3
Ensembl Gene ENSMUSG00000047149
Gene Name olfactory receptor family 5 subfamily J member 3
Synonyms GA_x6K02T2Q125-47777498-47778436, Olfr1052, MOR172-1
MMRRC Submission 040499-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R2912 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86128162-86129100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86128733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 191 (D191G)
Ref Sequence ENSEMBL: ENSMUSP00000149344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054746] [ENSMUST00000215090] [ENSMUST00000217166]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000054746
AA Change: D191G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058454
Gene: ENSMUSG00000047149
AA Change: D191G

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.3e-51 PFAM
Pfam:7tm_1 41 290 6.9e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215090
AA Change: D191G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000217166
AA Change: D191G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.2321 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A T 11: 69,020,866 (GRCm39) K197M probably damaging Het
Asxl2 A G 12: 3,524,517 (GRCm39) K182E probably benign Het
Birc6 A G 17: 74,999,201 (GRCm39) D4643G probably damaging Het
Bmpr1b T C 3: 141,586,139 (GRCm39) D41G probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Creb3l1 T C 2: 91,817,398 (GRCm39) T372A possibly damaging Het
Dbn1 A G 13: 55,630,234 (GRCm39) F45L probably damaging Het
Dhx29 A G 13: 113,072,109 (GRCm39) E251G probably damaging Het
Dnajc27 C T 12: 4,146,280 (GRCm39) S103L probably damaging Het
Dync1li1 T G 9: 114,544,743 (GRCm39) N348K probably benign Het
Emc1 T C 4: 139,092,571 (GRCm39) S504P possibly damaging Het
F5 A G 1: 164,021,488 (GRCm39) D1321G probably damaging Het
Garin4 T C 1: 190,895,425 (GRCm39) N406S probably benign Het
Gpr157 G A 4: 150,183,222 (GRCm39) V131I probably benign Het
Hprt1 T C X: 52,109,016 (GRCm39) Y174H probably damaging Het
Kcnq2 A G 2: 180,723,567 (GRCm39) V603A probably damaging Het
Lama2 T C 10: 26,876,799 (GRCm39) S2716G probably benign Het
Lax1 A G 1: 133,611,791 (GRCm39) V48A possibly damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Med17 A G 9: 15,187,210 (GRCm39) L188P probably damaging Het
Mfsd5 A G 15: 102,189,743 (GRCm39) T372A probably benign Het
Mrgprb5 T C 7: 47,817,815 (GRCm39) S307G probably benign Het
Mroh9 T C 1: 162,871,572 (GRCm39) Y637C probably damaging Het
Nherf2 C T 17: 24,861,215 (GRCm39) G71S probably damaging Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Nrg1 A G 8: 32,308,595 (GRCm39) S474P probably damaging Het
Nup210 T G 6: 91,003,956 (GRCm39) D644A probably damaging Het
Or10ak7 A G 4: 118,791,898 (GRCm39) I47T probably benign Het
Or4c11 A T 2: 88,695,458 (GRCm39) N170Y probably benign Het
Or8g34 T C 9: 39,373,512 (GRCm39) Y259H probably damaging Het
Panx2 A G 15: 88,954,024 (GRCm39) I660V probably benign Het
Pramel13 T C 4: 144,119,304 (GRCm39) E421G probably damaging Het
Prx C T 7: 27,215,654 (GRCm39) P52S probably damaging Het
Ptprf A G 4: 118,106,177 (GRCm39) S206P probably damaging Het
Rbm45 C T 2: 76,205,798 (GRCm39) P217S probably benign Het
Rfx6 A G 10: 51,594,226 (GRCm39) D382G probably damaging Het
Ric3 A G 7: 108,653,660 (GRCm39) F144L possibly damaging Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Trank1 T C 9: 111,221,551 (GRCm39) S2763P probably damaging Het
Vmn1r42 T C 6: 89,821,688 (GRCm39) M294V probably benign Het
Zfp467 C A 6: 48,416,010 (GRCm39) R214L possibly damaging Het
Zfp750 C A 11: 121,403,153 (GRCm39) A532S probably benign Het
Zscan4d G A 7: 10,896,614 (GRCm39) P252L probably benign Het
Other mutations in Or5j3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02632:Or5j3 APN 2 86,128,904 (GRCm39) missense probably damaging 0.99
IGL02988:Or5j3 UTSW 2 86,128,823 (GRCm39) missense probably damaging 0.99
R0382:Or5j3 UTSW 2 86,128,937 (GRCm39) missense probably damaging 1.00
R0569:Or5j3 UTSW 2 86,128,941 (GRCm39) missense probably damaging 1.00
R1476:Or5j3 UTSW 2 86,128,823 (GRCm39) missense probably damaging 0.99
R1510:Or5j3 UTSW 2 86,128,715 (GRCm39) missense probably damaging 1.00
R1667:Or5j3 UTSW 2 86,129,080 (GRCm39) missense probably null 0.02
R2913:Or5j3 UTSW 2 86,128,733 (GRCm39) missense probably damaging 0.96
R3937:Or5j3 UTSW 2 86,128,360 (GRCm39) missense probably damaging 1.00
R4299:Or5j3 UTSW 2 86,128,585 (GRCm39) missense possibly damaging 0.46
R4774:Or5j3 UTSW 2 86,129,042 (GRCm39) missense possibly damaging 0.91
R5027:Or5j3 UTSW 2 86,128,540 (GRCm39) missense possibly damaging 0.84
R5080:Or5j3 UTSW 2 86,128,258 (GRCm39) missense probably benign 0.22
R5254:Or5j3 UTSW 2 86,128,265 (GRCm39) missense probably damaging 1.00
R5389:Or5j3 UTSW 2 86,128,561 (GRCm39) missense possibly damaging 0.90
R6110:Or5j3 UTSW 2 86,129,019 (GRCm39) missense probably damaging 0.99
R6492:Or5j3 UTSW 2 86,128,990 (GRCm39) missense probably benign 0.05
R6810:Or5j3 UTSW 2 86,128,267 (GRCm39) missense probably benign 0.01
R7095:Or5j3 UTSW 2 86,129,021 (GRCm39) missense probably benign 0.08
R7104:Or5j3 UTSW 2 86,128,564 (GRCm39) missense probably benign
R7320:Or5j3 UTSW 2 86,128,338 (GRCm39) frame shift probably null
R7328:Or5j3 UTSW 2 86,128,338 (GRCm39) frame shift probably null
R7363:Or5j3 UTSW 2 86,128,338 (GRCm39) frame shift probably null
R8048:Or5j3 UTSW 2 86,128,672 (GRCm39) missense probably benign 0.04
R8202:Or5j3 UTSW 2 86,128,968 (GRCm39) missense probably benign 0.06
R8968:Or5j3 UTSW 2 86,128,526 (GRCm39) missense probably benign 0.00
R9160:Or5j3 UTSW 2 86,128,330 (GRCm39) missense probably benign 0.40
R9321:Or5j3 UTSW 2 86,128,297 (GRCm39) missense probably benign 0.01
R9694:Or5j3 UTSW 2 86,128,718 (GRCm39) missense probably benign 0.03
Z1176:Or5j3 UTSW 2 86,128,570 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTGTCCATGTCTAAGCAAAAGTG -3'
(R):5'- GAATACTGGGAGCTTGGCTG -3'

Sequencing Primer
(F):5'- CAAAAGTGTATCATGATGGTCACTGG -3'
(R):5'- GAGCTTGGCTGAATGTAATTAAAGC -3'
Posted On 2015-01-23