Incidental Mutation 'R4678:Or52j3'
ID 349766
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 041931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4678 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102835810-102836748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102836098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 97 (F97L)
Ref Sequence ENSEMBL: ENSMUSP00000153755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098207] [ENSMUST00000106893] [ENSMUST00000218618]
AlphaFold A0A2I3BPE8
Predicted Effect probably damaging
Transcript: ENSMUST00000098207
AA Change: F97L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095808
Gene: ENSMUSG00000073956
AA Change: F97L

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 probably damaging
Transcript: ENSMUST00000106893
AA Change: F97L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102506
Gene: ENSMUSG00000073956
AA Change: F97L

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 probably damaging
Transcript: ENSMUST00000218618
AA Change: F97L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.1%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik T C 16: 88,860,873 (GRCm39) probably benign Het
Abcc4 A G 14: 118,865,103 (GRCm39) S308P probably damaging Het
Agr3 G T 12: 35,997,832 (GRCm39) V115L probably damaging Het
Ahr A T 12: 35,557,463 (GRCm39) I319N probably damaging Het
Alpk1 A T 3: 127,473,507 (GRCm39) V832D probably damaging Het
Ano1 T C 7: 144,223,289 (GRCm39) T78A probably benign Het
Apob G A 12: 8,045,585 (GRCm39) G897D probably damaging Het
Arfgef1 A G 1: 10,212,891 (GRCm39) F1677L probably benign Het
Arhgap40 G T 2: 158,374,226 (GRCm39) G217W probably benign Het
Arhgef4 A G 1: 34,761,749 (GRCm39) E335G unknown Het
Calcoco2 T C 11: 95,994,374 (GRCm39) T60A probably damaging Het
Catsperg1 A T 7: 28,889,721 (GRCm39) S741T probably benign Het
Ccdc181 T G 1: 164,105,846 (GRCm39) I27S probably damaging Het
Ceacam9 A T 7: 16,459,334 (GRCm39) Y211F probably damaging Het
Cep41 T C 6: 30,671,318 (GRCm39) probably null Het
Cercam T A 2: 29,759,689 (GRCm39) L45Q probably damaging Het
Cnnm2 G A 19: 46,751,685 (GRCm39) V492M possibly damaging Het
Cntn3 A G 6: 102,180,981 (GRCm39) V738A probably damaging Het
Coq8a T C 1: 179,997,646 (GRCm39) E351G probably damaging Het
Cyp3a57 T C 5: 145,307,538 (GRCm39) probably null Het
Dbn1 T C 13: 55,623,071 (GRCm39) I471V probably benign Het
Ddx21 G T 10: 62,429,782 (GRCm39) Q321K probably benign Het
Dhx8 T C 11: 101,630,634 (GRCm39) V347A probably damaging Het
Dkc1 A G X: 74,144,598 (GRCm39) I215V probably benign Homo
Dlg2 A G 7: 92,077,788 (GRCm39) I685V possibly damaging Het
Dusp11 A C 6: 85,930,363 (GRCm39) N140K probably damaging Het
Ece2 A G 16: 20,459,468 (GRCm39) K454R probably damaging Het
Eno4 T A 19: 58,935,181 (GRCm39) V131E probably damaging Het
Enpep A G 3: 129,097,362 (GRCm39) probably null Het
Etv1 T C 12: 38,885,219 (GRCm39) Y236H probably damaging Het
F2rl2 A G 13: 95,837,140 (GRCm39) T62A probably benign Het
Fbxl21 T C 13: 56,684,862 (GRCm39) V296A probably damaging Het
Fig4 T C 10: 41,148,994 (GRCm39) I153V probably benign Het
Fis1 T A 5: 136,991,951 (GRCm39) N41K possibly damaging Het
Fras1 T A 5: 96,848,427 (GRCm39) M1814K probably benign Het
Frem2 T A 3: 53,451,792 (GRCm39) I2266F probably benign Het
Gm10330 A T 12: 23,829,843 (GRCm39) *113R probably null Het
Gm12185 T A 11: 48,806,367 (GRCm39) I275F probably benign Het
Gsdme A T 6: 50,206,304 (GRCm39) C180S possibly damaging Het
Herc1 A G 9: 66,323,551 (GRCm39) E1355G probably benign Het
Hnrnpm A T 17: 33,869,185 (GRCm39) I453N possibly damaging Het
Hspb9 T C 11: 100,604,896 (GRCm39) L74P probably damaging Het
Ift46 C A 9: 44,695,260 (GRCm39) Y85* probably null Het
Insyn2b T G 11: 34,353,227 (GRCm39) L423R probably damaging Het
Ints3 T C 3: 90,315,817 (GRCm39) T316A possibly damaging Het
Isg20 C T 7: 78,564,076 (GRCm39) probably benign Het
Itga11 T A 9: 62,642,639 (GRCm39) N187K probably damaging Het
Klhl9 G A 4: 88,639,161 (GRCm39) T360I probably damaging Het
Krt39 T A 11: 99,411,826 (GRCm39) I87F probably benign Het
Krtap19-4 G A 16: 88,681,734 (GRCm39) S74F unknown Het
Lgi1 G A 19: 38,289,737 (GRCm39) V268I probably damaging Het
Lrrc46 G A 11: 96,925,719 (GRCm39) P248S probably benign Het
Lrrn4 C T 2: 132,721,488 (GRCm39) V110I probably benign Het
Mamstr C A 7: 45,294,116 (GRCm39) probably benign Het
Micu3 T A 8: 40,833,718 (GRCm39) F451I probably damaging Het
Mid1 C A X: 168,768,044 (GRCm39) D130E possibly damaging Het
Mkks T C 2: 136,722,201 (GRCm39) T319A probably benign Het
Mob3c A G 4: 115,690,968 (GRCm39) probably null Het
Muc6 T C 7: 141,230,554 (GRCm39) E1192G probably benign Het
Ndc80 A G 17: 71,827,753 (GRCm39) probably null Het
Nfx1 A G 4: 41,012,070 (GRCm39) K807E probably benign Het
Nrxn1 A T 17: 90,930,850 (GRCm39) L181Q probably damaging Het
Nsun7 A G 5: 66,418,407 (GRCm39) S46G probably benign Het
Nup98 A T 7: 101,834,038 (GRCm39) L308H probably damaging Het
Or4c115 C A 2: 88,927,860 (GRCm39) W137L probably benign Het
Or6f2 T C 7: 139,756,141 (GRCm39) V36A probably benign Het
Or8k32 T C 2: 86,369,077 (GRCm39) M61V possibly damaging Het
Palb2 T C 7: 121,726,589 (GRCm39) K427R probably damaging Het
Pcdha1 C A 18: 37,063,965 (GRCm39) Q210K probably benign Het
Pcdhb2 T C 18: 37,429,260 (GRCm39) L411P probably damaging Het
Pde4dip C A 3: 97,602,321 (GRCm39) D2252Y probably damaging Het
Plekhg4 T A 8: 106,107,003 (GRCm39) Y899* probably null Het
Plxnb2 G T 15: 89,045,131 (GRCm39) T1105K probably benign Het
Psmd2 T C 16: 20,478,719 (GRCm39) V606A probably damaging Het
Ptprq A T 10: 107,521,043 (GRCm39) F710I probably benign Het
Rad51ap2 A G 12: 11,506,552 (GRCm39) E158G probably damaging Het
Rasip1 T A 7: 45,277,247 (GRCm39) H18Q possibly damaging Het
Rassf8 A G 6: 145,760,808 (GRCm39) K45E probably damaging Het
Rrn3 T A 16: 13,613,940 (GRCm39) M284K probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtn2 C A 7: 19,027,820 (GRCm39) N403K probably damaging Het
Rusc1 A G 3: 88,997,027 (GRCm39) W462R probably damaging Het
Sdc3 T A 4: 130,545,907 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc12a2 T A 18: 58,039,032 (GRCm39) C537* probably null Het
Slc4a2 G A 5: 24,639,238 (GRCm39) probably null Het
Spsb4 T A 9: 96,877,744 (GRCm39) D193V probably damaging Het
Strn A C 17: 78,984,780 (GRCm39) F288V probably damaging Het
Stx18 G A 5: 38,293,712 (GRCm39) probably benign Het
Tfcp2l1 T A 1: 118,596,378 (GRCm39) M371K probably benign Het
Thnsl1 A G 2: 21,216,352 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,439 (GRCm39) H142Y possibly damaging Het
Tor1aip2 T A 1: 155,940,780 (GRCm39) I362K probably damaging Het
Trmt13 T C 3: 116,383,404 (GRCm39) K125E probably damaging Het
Trpm8 T C 1: 88,264,851 (GRCm39) V320A probably benign Het
Ubr3 A T 2: 69,766,263 (GRCm39) H377L probably damaging Het
Usp8 A G 2: 126,567,349 (GRCm39) R123G probably null Het
Vim T A 2: 13,579,775 (GRCm39) L178Q probably damaging Het
Vmn1r231 A C 17: 21,110,489 (GRCm39) V142G possibly damaging Het
Vmn1r83 A G 7: 12,055,697 (GRCm39) M120T possibly damaging Het
Vwce G T 19: 10,642,012 (GRCm39) V913F possibly damaging Het
Zbtb18 C A 1: 177,275,285 (GRCm39) T215K probably benign Het
Zeb2 A T 2: 44,886,353 (GRCm39) D857E probably damaging Het
Zfp106 G A 2: 120,364,221 (GRCm39) H729Y probably damaging Het
Zfp977 C A 7: 42,229,437 (GRCm39) A363S probably benign 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
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
R5986:Or52j3 UTSW 7 102,836,735 (GRCm39) missense possibly damaging 0.87
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'- TAGGAGCGTTTCTCACCCAG -3'
(R):5'- ACCACACATATGCTGATGCC -3'

Sequencing Primer
(F):5'- AGATACATTTTTCCTCATTGGGATCC -3'
(R):5'- TGATGCCCATCAGGACACGAG -3'
Posted On 2015-10-08