Incidental Mutation 'R5986:Or52j3'
ID 481651
Institutional Source Beutler Lab
Gene Symbol Or52j3
Ensembl Gene ENSMUSG00000073956
Gene Name olfactory receptor family 52 subfamily J member 3
Synonyms GA_x6K02T2PBJ9-5902266-5903204, MOR0-3P, MOR32-13, Olfr592, Olfr1525-ps1, MOR0-3P
MMRRC Submission 044166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102835810-102836748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102836735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 309 (F309S)
Ref Sequence ENSEMBL: ENSMUSP00000153755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098207] [ENSMUST00000106893] [ENSMUST00000218618]
AlphaFold A0A2I3BPE8
Predicted Effect possibly damaging
Transcript: ENSMUST00000098207
AA Change: F309S

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095808
Gene: ENSMUSG00000073956
AA Change: F309S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 309 1.4e-6 PFAM
Pfam:7tm_1 44 294 2.6e-26 PFAM
Pfam:7tm_4 141 287 2.3e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106893
AA Change: F309S

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102506
Gene: ENSMUSG00000073956
AA Change: F309S

DomainStartEndE-ValueType
Pfam:7tm_4 34 312 6.9e-112 PFAM
Pfam:7TM_GPCR_Srsx 38 309 1.4e-6 PFAM
Pfam:7tm_1 44 294 1.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218618
AA Change: F309S

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,566,145 (GRCm39) F992I probably damaging Het
Ampd1 T C 3: 102,992,713 (GRCm39) F152L probably damaging Het
Ank2 T C 3: 126,806,335 (GRCm39) H602R possibly damaging Het
Ankib1 T C 5: 3,797,071 (GRCm39) D247G probably damaging Het
Bccip T A 7: 133,322,594 (GRCm39) H313Q probably benign Het
Ccdc198 A T 14: 49,470,403 (GRCm39) L172H probably damaging Het
Cep250 A G 2: 155,821,197 (GRCm39) E929G probably damaging Het
Chl1 C A 6: 103,686,152 (GRCm39) L954I probably benign Het
Cog5 A T 12: 31,710,716 (GRCm39) D32V probably benign Het
Cyp4f16 C A 17: 32,763,116 (GRCm39) A187E probably benign Het
Dffb A T 4: 154,050,050 (GRCm39) V271E probably damaging Het
Dnah8 A G 17: 31,070,604 (GRCm39) Y4430C possibly damaging Het
Dpp3 T C 19: 4,968,385 (GRCm39) E229G probably benign Het
Fat3 T A 9: 15,909,613 (GRCm39) N2130Y probably benign Het
Kcnk3 T C 5: 30,745,722 (GRCm39) V21A possibly damaging Het
Kif9 G A 9: 110,319,094 (GRCm39) S186N probably benign Het
Lhfpl3 C A 5: 22,951,424 (GRCm39) N78K probably benign Het
Ly6c1 A G 15: 74,917,457 (GRCm39) S64P probably damaging Het
Mapk10 T C 5: 103,186,446 (GRCm39) T59A probably benign Het
Mars1 A T 10: 127,140,171 (GRCm39) C394* probably null Het
Mettl16 T A 11: 74,683,063 (GRCm39) D168E possibly damaging Het
Mgat2 A T 12: 69,232,158 (GRCm39) Q244L probably benign Het
Mrps30 A G 13: 118,521,101 (GRCm39) probably null Het
Myrip C A 9: 120,290,487 (GRCm39) A702E probably damaging Het
Nepn T C 10: 52,280,168 (GRCm39) L420P probably damaging Het
Nrn1 A T 13: 36,918,238 (GRCm39) Y9* probably null Het
Nup107 T C 10: 117,595,081 (GRCm39) Y752C probably damaging Het
Nutm2 A T 13: 50,628,496 (GRCm39) D520V probably damaging Het
Olfm2 C T 9: 20,586,946 (GRCm39) C48Y probably damaging Het
Or8g19 A G 9: 39,056,278 (GRCm39) N294S probably null Het
Osbpl1a T A 18: 13,038,138 (GRCm39) D271V probably damaging Het
Osmr G T 15: 6,873,934 (GRCm39) D154E probably benign Het
Pcdh9 A G 14: 94,124,484 (GRCm39) V562A probably damaging Het
Peak1 A C 9: 56,166,726 (GRCm39) S401A probably benign Het
Pigk A T 3: 152,446,486 (GRCm39) H195L probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ppp2r1a C T 17: 21,171,608 (GRCm39) R28C probably damaging Het
Pramel30 G T 4: 144,059,323 (GRCm39) V345F probably damaging Het
Ptbp3 T C 4: 59,493,311 (GRCm39) D123G probably benign Het
Ptgr2 G A 12: 84,355,120 (GRCm39) E285K possibly damaging Het
Rassf1 G T 9: 107,429,021 (GRCm39) V76L possibly damaging Het
Sec22a A G 16: 35,134,461 (GRCm39) V307A probably damaging Het
Skint5 C T 4: 113,852,845 (GRCm39) V18I probably benign Het
Slc1a5 T C 7: 16,516,151 (GRCm39) V109A probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tiam1 T C 16: 89,586,074 (GRCm39) E602G probably benign Het
Tll1 T C 8: 64,527,297 (GRCm39) E408G probably damaging Het
Tpsb2 G A 17: 25,586,108 (GRCm39) V109M probably benign Het
Trib1 T A 15: 59,526,451 (GRCm39) probably null Het
Trio G T 15: 27,852,019 (GRCm39) A765E possibly damaging Het
Uggt2 A T 14: 119,286,838 (GRCm39) V193E probably damaging Het
Vmn1r115 G A 7: 20,578,447 (GRCm39) P155L probably benign Het
Wdr31 A G 4: 62,374,113 (GRCm39) L292S probably benign Het
Xrra1 T C 7: 99,525,462 (GRCm39) I127T probably benign Het
Yju2 G A 17: 56,269,030 (GRCm39) C46Y probably damaging Het
Zfp442 G A 2: 150,249,944 (GRCm39) Q596* probably null Het
Other mutations in Or52j3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Or52j3 APN 7 102,836,617 (GRCm39) missense probably damaging 0.99
IGL01650:Or52j3 APN 7 102,836,286 (GRCm39) missense probably benign 0.01
IGL02682:Or52j3 APN 7 102,836,221 (GRCm39) missense probably damaging 0.99
R0925:Or52j3 UTSW 7 102,836,030 (GRCm39) nonsense probably null
R1543:Or52j3 UTSW 7 102,836,421 (GRCm39) missense probably benign 0.26
R1761:Or52j3 UTSW 7 102,836,325 (GRCm39) missense probably damaging 1.00
R2017:Or52j3 UTSW 7 102,836,137 (GRCm39) missense probably benign 0.00
R2152:Or52j3 UTSW 7 102,835,847 (GRCm39) missense probably benign
R4678:Or52j3 UTSW 7 102,836,098 (GRCm39) missense probably damaging 0.97
R4679:Or52j3 UTSW 7 102,836,309 (GRCm39) missense probably benign 0.05
R5177:Or52j3 UTSW 7 102,836,710 (GRCm39) missense probably benign 0.11
R6808:Or52j3 UTSW 7 102,836,511 (GRCm39) missense probably benign 0.18
R7400:Or52j3 UTSW 7 102,836,587 (GRCm39) missense probably damaging 1.00
R8781:Or52j3 UTSW 7 102,836,082 (GRCm39) missense probably benign 0.01
R9245:Or52j3 UTSW 7 102,836,194 (GRCm39) missense probably damaging 0.99
R9470:Or52j3 UTSW 7 102,836,270 (GRCm39) missense probably benign 0.00
RF005:Or52j3 UTSW 7 102,835,898 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACATGTGGTTCCCATGTTGC -3'
(R):5'- GCCTTTCCAGTCTAGTCTAACAG -3'

Sequencing Primer
(F):5'- CATGTGGTTCCCATGTTGCTGTTC -3'
(R):5'- AGTCTAGTCTAACAGTCCTTCAAC -3'
Posted On 2017-06-26