Incidental Mutation 'IGL01955:Or52e2'
ID 181407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52e2
Ensembl Gene ENSMUSG00000051362
Gene Name olfactory receptor family 52 subfamily E member 2
Synonyms GA_x6K02T2PBJ9-5871256-5870303, MOR32-3, Olfr589
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # IGL01955
Quality Score
Status
Chromosome 7
Chromosomal Location 102803999-102804952 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 102804061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 298 (K298*)
Ref Sequence ENSEMBL: ENSMUSP00000151739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061055] [ENSMUST00000218483]
AlphaFold Q8VGV8
Predicted Effect probably null
Transcript: ENSMUST00000061055
AA Change: K298*
SMART Domains Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: K298*

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 3.1e-132 PFAM
Pfam:7TM_GPCR_Srsx 37 171 1.5e-7 PFAM
Pfam:7tm_1 43 293 1.1e-12 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218483
AA Change: K298*
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,273,420 (GRCm39) noncoding transcript Het
Abcc1 T A 16: 14,228,659 (GRCm39) I302N probably damaging Het
Abhd16a A G 17: 35,320,316 (GRCm39) S394G probably damaging Het
Adgrv1 T C 13: 81,330,902 (GRCm39) Y71C probably damaging Het
Apol8 A G 15: 77,633,899 (GRCm39) C226R probably benign Het
Bbs7 A G 3: 36,664,471 (GRCm39) S45P probably benign Het
Cacna1b T C 2: 24,529,149 (GRCm39) Y1575C probably damaging Het
Cckbr T A 7: 105,084,169 (GRCm39) V301E probably damaging Het
Cwc27 A G 13: 104,944,245 (GRCm39) Y79H probably damaging Het
Dchs1 T C 7: 105,406,798 (GRCm39) T2236A probably benign Het
Ddx50 T C 10: 62,482,962 (GRCm39) R36G probably benign Het
Extl3 T A 14: 65,313,415 (GRCm39) Y589F probably benign Het
Gab2 T C 7: 96,953,430 (GRCm39) V601A probably damaging Het
Hsd3b1 T A 3: 98,760,463 (GRCm39) N176I probably benign Het
L3mbtl3 A T 10: 26,194,336 (GRCm39) S420R unknown Het
Odad2 C T 18: 7,127,291 (GRCm39) R974Q possibly damaging Het
Or2ak6 T C 11: 58,592,955 (GRCm39) S143P probably damaging Het
Or5g23 A G 2: 85,439,051 (GRCm39) F68L probably benign Het
Polr2a T C 11: 69,632,674 (GRCm39) D974G probably damaging Het
Ptges3l T C 11: 101,314,644 (GRCm39) K13E possibly damaging Het
Ptprk A G 10: 28,471,861 (GRCm39) probably benign Het
Rassf3 T C 10: 121,253,027 (GRCm39) Y60C probably damaging Het
Rnf157 T C 11: 116,250,722 (GRCm39) T160A probably damaging Het
Secisbp2l A G 2: 125,585,732 (GRCm39) probably null Het
Setd2 A G 9: 110,378,386 (GRCm39) T734A probably benign Het
Skint5 A G 4: 113,480,933 (GRCm39) probably null Het
Slc38a9 A G 13: 112,831,952 (GRCm39) probably benign Het
Snx17 T G 5: 31,354,426 (GRCm39) probably benign Het
Tas2r113 A T 6: 132,870,817 (GRCm39) M282L probably benign Het
Tbc1d31 A G 15: 57,805,766 (GRCm39) N404D probably benign Het
Tmem63c A T 12: 87,123,982 (GRCm39) I487F probably benign Het
Tpm3 A G 3: 89,995,742 (GRCm39) M164V probably benign Het
Trafd1 G T 5: 121,513,217 (GRCm39) N340K probably benign Het
Trpv4 T A 5: 114,760,743 (GRCm39) K863* probably null Het
Ttn A T 2: 76,627,696 (GRCm39) M13003K possibly damaging Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Unc5b T C 10: 60,614,034 (GRCm39) T272A probably benign Het
Vmn1r82 A C 7: 12,039,650 (GRCm39) probably null Het
Zc3h7b A G 15: 81,676,205 (GRCm39) N704D probably benign Het
Other mutations in Or52e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Or52e2 APN 7 102,804,310 (GRCm39) missense probably benign 0.14
IGL02336:Or52e2 APN 7 102,804,772 (GRCm39) missense probably benign 0.09
IGL03355:Or52e2 APN 7 102,804,408 (GRCm39) missense probably damaging 1.00
PIT4508001:Or52e2 UTSW 7 102,804,520 (GRCm39) missense probably benign
R0900:Or52e2 UTSW 7 102,804,520 (GRCm39) missense probably benign
R2250:Or52e2 UTSW 7 102,804,157 (GRCm39) missense probably damaging 1.00
R3500:Or52e2 UTSW 7 102,804,297 (GRCm39) missense probably damaging 1.00
R4756:Or52e2 UTSW 7 102,804,332 (GRCm39) missense probably benign 0.24
R4776:Or52e2 UTSW 7 102,804,621 (GRCm39) missense probably benign 0.40
R5022:Or52e2 UTSW 7 102,804,942 (GRCm39) missense probably benign
R5151:Or52e2 UTSW 7 102,804,593 (GRCm39) missense probably damaging 0.99
R5231:Or52e2 UTSW 7 102,804,175 (GRCm39) missense probably damaging 1.00
R5870:Or52e2 UTSW 7 102,804,948 (GRCm39) missense probably benign 0.00
R5973:Or52e2 UTSW 7 102,804,081 (GRCm39) missense possibly damaging 0.93
R6567:Or52e2 UTSW 7 102,804,135 (GRCm39) missense possibly damaging 0.94
R7095:Or52e2 UTSW 7 102,804,537 (GRCm39) missense probably damaging 1.00
R8214:Or52e2 UTSW 7 102,804,613 (GRCm39) missense probably damaging 1.00
R8915:Or52e2 UTSW 7 102,804,411 (GRCm39) missense probably damaging 1.00
R8921:Or52e2 UTSW 7 102,804,660 (GRCm39) missense probably benign
R9258:Or52e2 UTSW 7 102,804,409 (GRCm39) nonsense probably null
R9679:Or52e2 UTSW 7 102,804,652 (GRCm39) missense probably benign
Posted On 2014-05-07