Incidental Mutation 'R6433:Or2j3'
ID 518666
Institutional Source Beutler Lab
Gene Symbol Or2j3
Ensembl Gene ENSMUSG00000054940
Gene Name olfactory receptor family 2 subfamily J member 3
Synonyms Olfr137, MOR256-18, GA_x6K02T2PSCP-2749525-2748587
MMRRC Submission 044571-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.469) question?
Stock # R6433 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 38615412-38616350 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38616304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 16 (L16P)
Ref Sequence ENSEMBL: ENSMUSP00000150173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057394] [ENSMUST00000213505]
AlphaFold Q8VFC2
Predicted Effect probably damaging
Transcript: ENSMUST00000057394
AA Change: L16P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051537
Gene: ENSMUSG00000054940
AA Change: L16P

Pfam:7tm_4 32 308 4e-49 PFAM
Pfam:7tm_1 42 291 4.5e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213505
AA Change: L16P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,101,561 (GRCm39) D1016E probably damaging Het
Aplnr A T 2: 84,967,017 (GRCm39) Q14L probably benign Het
Aspm T C 1: 139,401,421 (GRCm39) L1147S probably damaging Het
Atad2b A G 12: 5,002,642 (GRCm39) T337A possibly damaging Het
Atrn A G 2: 130,864,947 (GRCm39) E1358G probably damaging Het
Caml C A 13: 55,771,062 (GRCm39) S53R possibly damaging Het
Cd180 T G 13: 102,842,141 (GRCm39) S396A probably benign Het
Cdhr2 A G 13: 54,866,325 (GRCm39) T344A probably damaging Het
Cyp4a31 A C 4: 115,427,466 (GRCm39) D224A probably damaging Het
Dhx36 T C 3: 62,392,395 (GRCm39) T544A probably damaging Het
Dnah14 A G 1: 181,479,222 (GRCm39) K1528E probably damaging Het
Dnpep T A 1: 75,292,022 (GRCm39) K199N probably benign Het
Dsc2 C T 18: 20,184,232 (GRCm39) probably null Het
Efl1 T A 7: 82,323,776 (GRCm39) D239E probably damaging Het
Elovl4 A G 9: 83,667,231 (GRCm39) V42A possibly damaging Het
Exoc3 T C 13: 74,337,306 (GRCm39) T432A possibly damaging Het
Fam98c A G 7: 28,855,553 (GRCm39) probably null Het
Fbln2 G A 6: 91,210,254 (GRCm39) G66D probably damaging Het
Fchsd1 G A 18: 38,097,137 (GRCm39) T410I possibly damaging Het
Flcn T C 11: 59,691,908 (GRCm39) D247G probably damaging Het
Galnt16 T C 12: 80,622,677 (GRCm39) V127A probably benign Het
H2-Ob A T 17: 34,462,860 (GRCm39) probably null Het
Has2 G A 15: 56,531,194 (GRCm39) S507F possibly damaging Het
Ido2 T A 8: 25,023,939 (GRCm39) M300L probably damaging Het
Itga10 T C 3: 96,565,357 (GRCm39) probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Mfsd2a A G 4: 122,844,250 (GRCm39) V299A probably benign Het
Mybpc1 T C 10: 88,396,217 (GRCm39) D210G probably damaging Het
Ndrg1 A T 15: 66,805,721 (GRCm39) M128K probably damaging Het
Obscn T A 11: 58,942,384 (GRCm39) T5091S probably benign Het
Pex5 A T 6: 124,390,572 (GRCm39) M91K possibly damaging Het
Phlpp2 G T 8: 110,661,317 (GRCm39) A810S probably benign Het
Pla2g7 G C 17: 43,910,017 (GRCm39) A174P probably damaging Het
Plxna4 C T 6: 32,192,613 (GRCm39) V783M probably damaging Het
Poll A T 19: 45,542,043 (GRCm39) M421K probably benign Het
Ppfia2 C A 10: 106,749,559 (GRCm39) S1148R possibly damaging Het
Prkg1 A G 19: 30,758,746 (GRCm39) F280S probably benign Het
Rdh10 G A 1: 16,178,079 (GRCm39) C117Y probably damaging Het
Rtl1 C A 12: 109,561,630 (GRCm39) A70S unknown Het
Scgb2b3 A T 7: 31,058,492 (GRCm39) L104I probably benign Het
Sh3tc1 T C 5: 35,863,941 (GRCm39) R749G probably damaging Het
Skint4 A G 4: 112,003,707 (GRCm39) K380R probably benign Het
Smtnl1 A C 2: 84,648,712 (GRCm39) S181A probably benign Het
Spata31d1b T C 13: 59,864,999 (GRCm39) S716P probably damaging Het
Spc25 A G 2: 69,036,446 (GRCm39) probably benign Het
Stab2 C T 10: 86,737,431 (GRCm39) probably null Het
Timm22 T C 11: 76,300,570 (GRCm39) V114A possibly damaging Het
Timp4 A G 6: 115,224,181 (GRCm39) C163R probably damaging Het
Toporsl T A 4: 52,611,548 (GRCm39) N480K possibly damaging Het
Tpo T C 12: 30,134,753 (GRCm39) E735G probably benign Het
Trpm3 A G 19: 22,878,669 (GRCm39) D692G probably damaging Het
Ttn T C 2: 76,582,058 (GRCm39) H22945R probably damaging Het
Vmn2r6 A T 3: 64,454,801 (GRCm39) Y499* probably null Het
Vwa1 G A 4: 155,857,226 (GRCm39) H191Y probably benign Het
Other mutations in Or2j3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02131:Or2j3 APN 17 38,615,539 (GRCm39) missense probably benign 0.03
IGL03169:Or2j3 APN 17 38,615,992 (GRCm39) missense probably damaging 1.00
IGL03392:Or2j3 APN 17 38,615,786 (GRCm39) missense probably benign 0.02
R0055:Or2j3 UTSW 17 38,615,702 (GRCm39) missense possibly damaging 0.84
R0055:Or2j3 UTSW 17 38,615,702 (GRCm39) missense possibly damaging 0.84
R0496:Or2j3 UTSW 17 38,615,549 (GRCm39) missense probably damaging 0.99
R0761:Or2j3 UTSW 17 38,616,282 (GRCm39) missense probably benign 0.00
R1126:Or2j3 UTSW 17 38,615,579 (GRCm39) missense probably damaging 0.97
R1835:Or2j3 UTSW 17 38,616,203 (GRCm39) missense probably benign 0.02
R3727:Or2j3 UTSW 17 38,616,310 (GRCm39) missense possibly damaging 0.64
R5556:Or2j3 UTSW 17 38,615,964 (GRCm39) missense possibly damaging 0.71
R5979:Or2j3 UTSW 17 38,616,083 (GRCm39) missense probably benign
R6430:Or2j3 UTSW 17 38,616,249 (GRCm39) missense probably benign 0.04
R7400:Or2j3 UTSW 17 38,616,222 (GRCm39) missense possibly damaging 0.91
R8053:Or2j3 UTSW 17 38,616,101 (GRCm39) missense probably benign
R8199:Or2j3 UTSW 17 38,615,444 (GRCm39) missense probably benign 0.31
R8446:Or2j3 UTSW 17 38,615,638 (GRCm39) missense probably benign 0.01
R8865:Or2j3 UTSW 17 38,615,872 (GRCm39) missense probably damaging 0.97
R9116:Or2j3 UTSW 17 38,615,654 (GRCm39) missense probably benign 0.01
R9756:Or2j3 UTSW 17 38,615,971 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-24