Incidental Mutation 'IGL02682:Or52j3'
ID 303386
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02682
Quality Score
Status
Chromosome 7
Chromosomal Location 102835810-102836748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102836221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 138 (I138F)
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: I138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095808
Gene: ENSMUSG00000073956
AA Change: I138F

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: I138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102506
Gene: ENSMUSG00000073956
AA Change: I138F

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: I138F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,367,823 (GRCm39) S113P probably benign Het
Arhgdib A T 6: 136,901,166 (GRCm39) W188R probably damaging Het
Bcr T A 10: 75,001,878 (GRCm39) N927K possibly damaging Het
Cd209c A G 8: 3,990,324 (GRCm39) Y165H probably damaging Het
Cnnm2 A G 19: 46,750,515 (GRCm39) K102E probably benign Het
Col12a1 T C 9: 79,606,623 (GRCm39) E600G probably damaging Het
Ddx4 A T 13: 112,758,720 (GRCm39) H280Q probably benign Het
Eya4 T C 10: 22,992,498 (GRCm39) Y462C probably damaging Het
Fibcd1 T A 2: 31,728,576 (GRCm39) I94F probably damaging Het
Gm4846 C A 1: 166,322,195 (GRCm39) G124V probably damaging Het
Gm5624 A G 14: 44,797,469 (GRCm39) I108T possibly damaging Het
Gpr179 A T 11: 97,242,691 (GRCm39) M51K probably benign Het
Hck A G 2: 152,976,054 (GRCm39) I198V probably damaging Het
Kcnd2 T A 6: 21,216,924 (GRCm39) C209* probably null Het
Klhl1 T A 14: 96,438,778 (GRCm39) I507F possibly damaging Het
Knl1 A T 2: 118,908,450 (GRCm39) K1693N possibly damaging Het
Mcam T C 9: 44,051,714 (GRCm39) V490A possibly damaging Het
Mrgprx1 A T 7: 47,671,740 (GRCm39) D2E probably damaging Het
Mtg1 T C 7: 139,724,642 (GRCm39) probably benign Het
Myof C A 19: 37,909,929 (GRCm39) R1512L probably benign Het
Nrp2 C T 1: 62,810,996 (GRCm39) T679I probably benign Het
Nwd2 C A 5: 63,962,020 (GRCm39) L535I probably benign Het
Nwd2 T A 5: 63,962,021 (GRCm39) L535H probably damaging Het
Or4f14b T A 2: 111,775,285 (GRCm39) N172I probably damaging Het
Or5b94 T C 19: 12,652,033 (GRCm39) S155P probably damaging Het
Phkb A G 8: 86,602,275 (GRCm39) *41W probably null Het
Prl5a1 T A 13: 28,329,403 (GRCm39) N27K probably benign Het
Rims1 T C 1: 22,358,708 (GRCm39) T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 (GRCm39) A376V probably damaging Het
Slc34a2 T C 5: 53,216,580 (GRCm39) V117A possibly damaging Het
Slfn8 A T 11: 82,894,517 (GRCm39) F707L probably damaging Het
Snx16 G A 3: 10,503,235 (GRCm39) P4L probably damaging Het
Snx6 T C 12: 54,801,130 (GRCm39) D289G probably damaging Het
St8sia3 G T 18: 64,402,750 (GRCm39) V130F probably damaging Het
U2surp A G 9: 95,363,704 (GRCm39) probably null Het
Ubqln3 A G 7: 103,791,272 (GRCm39) F273L probably benign Het
Vmn2r101 A T 17: 19,832,507 (GRCm39) R834S possibly damaging Het
Vmn2r18 G T 5: 151,508,102 (GRCm39) H341N probably damaging Het
Vrk3 A G 7: 44,403,244 (GRCm39) I2V probably benign Het
Zglp1 A G 9: 20,977,534 (GRCm39) S94P 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
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
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
Posted On 2015-04-16