Incidental Mutation 'IGL01302:Or52e15'
ID 73286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52e15
Ensembl Gene ENSMUSG00000051172
Gene Name olfactory receptor family 52 subfamily E member 15
Synonyms Olfr672, MOR32-4, GA_x6K02T2PBJ9-7625746-7624808
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01302
Quality Score
Status
Chromosome 7
Chromosomal Location 104645171-104646109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104645928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 61 (M61K)
Ref Sequence ENSEMBL: ENSMUSP00000149704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050599] [ENSMUST00000213942]
AlphaFold Q8VG28
Predicted Effect probably damaging
Transcript: ENSMUST00000050599
AA Change: M61K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054607
Gene: ENSMUSG00000051172
AA Change: M61K

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 9.1e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 304 4.8e-7 PFAM
Pfam:7tm_1 43 293 5.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211761
AA Change: M61K
Predicted Effect probably damaging
Transcript: ENSMUST00000213942
AA Change: M61K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,470 (GRCm39) probably benign Het
Abcb5 T A 12: 118,881,935 (GRCm39) D598V probably damaging Het
Adss1 T C 12: 112,601,170 (GRCm39) probably benign Het
Akap9 T A 5: 4,020,711 (GRCm39) S1141T probably benign Het
Avil T C 10: 126,852,903 (GRCm39) probably null Het
Avl9 C A 6: 56,702,075 (GRCm39) H77N probably damaging Het
Cacna1e A G 1: 154,319,653 (GRCm39) V1349A probably damaging Het
Cdc23 A C 18: 34,767,697 (GRCm39) S483A probably benign Het
Cep192 C T 18: 67,991,974 (GRCm39) P1951S probably benign Het
Cp A G 3: 20,020,531 (GRCm39) T175A probably damaging Het
Dubr A C 16: 50,552,998 (GRCm39) noncoding transcript Het
Eif4g2 G T 7: 110,673,920 (GRCm39) Q695K possibly damaging Het
Endod1 A T 9: 14,268,535 (GRCm39) S317T possibly damaging Het
Ep400 T C 5: 110,889,914 (GRCm39) T450A probably benign Het
Erc1 A C 6: 119,699,264 (GRCm39) V790G probably damaging Het
Fam222a T A 5: 114,732,514 (GRCm39) L23Q possibly damaging Het
Fancf A G 7: 51,511,035 (GRCm39) V323A probably benign Het
Grik2 T A 10: 49,120,426 (GRCm39) Q621L probably damaging Het
Gsk3b G T 16: 38,040,380 (GRCm39) R319L probably benign Het
Ikzf1 A G 11: 11,718,923 (GRCm39) Y297C probably damaging Het
Katnal2 T C 18: 77,134,863 (GRCm39) probably benign Het
Lrba G T 3: 86,202,707 (GRCm39) C289F probably damaging Het
Mos T C 4: 3,871,815 (GRCm39) probably benign Het
Mycn T C 12: 12,987,587 (GRCm39) D270G possibly damaging Het
Or6c207 T A 10: 129,104,392 (GRCm39) I267F probably benign Het
Pclo A G 5: 14,726,013 (GRCm39) probably benign Het
Pgm1 A G 4: 99,786,803 (GRCm39) D14G probably damaging Het
Pramel7 T A 2: 87,321,717 (GRCm39) D106V possibly damaging Het
Prdm9 G T 17: 15,773,608 (GRCm39) H263N probably benign Het
Psd4 T A 2: 24,286,799 (GRCm39) probably null Het
Ptprc G A 1: 138,027,369 (GRCm39) T493I possibly damaging Het
Rbbp8 T A 18: 11,855,036 (GRCm39) S420R probably benign Het
Sap30bp A G 11: 115,853,373 (GRCm39) T219A probably damaging Het
Shld2 C T 14: 33,981,684 (GRCm39) V485I probably benign Het
Slc2a7 T A 4: 150,242,021 (GRCm39) L200Q probably damaging Het
Slc38a6 T A 12: 73,335,299 (GRCm39) probably null Het
Tatdn2 T A 6: 113,680,985 (GRCm39) probably benign Het
Thrb A G 14: 18,011,056 (GRCm38) probably benign Het
Timp4 T C 6: 115,223,269 (GRCm39) Y218C possibly damaging Het
Tlr5 A G 1: 182,802,313 (GRCm39) D525G probably benign Het
Usp32 G T 11: 84,879,308 (GRCm39) T1467N probably benign Het
Vmn2r78 A G 7: 86,564,569 (GRCm39) I5V unknown Het
Zbtb43 T C 2: 33,344,103 (GRCm39) H374R probably benign Het
Zfhx4 C A 3: 5,308,628 (GRCm39) T618K probably damaging Het
Other mutations in Or52e15
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4151001:Or52e15 UTSW 7 104,645,424 (GRCm39) missense probably damaging 1.00
R0396:Or52e15 UTSW 7 104,645,913 (GRCm39) missense probably damaging 0.99
R0632:Or52e15 UTSW 7 104,645,910 (GRCm39) missense probably benign 0.00
R1490:Or52e15 UTSW 7 104,645,700 (GRCm39) missense possibly damaging 0.95
R1781:Or52e15 UTSW 7 104,645,315 (GRCm39) missense possibly damaging 0.80
R2251:Or52e15 UTSW 7 104,645,802 (GRCm39) missense probably damaging 1.00
R3419:Or52e15 UTSW 7 104,645,727 (GRCm39) missense probably damaging 1.00
R3625:Or52e15 UTSW 7 104,645,191 (GRCm39) missense probably benign 0.17
R4093:Or52e15 UTSW 7 104,645,842 (GRCm39) missense probably benign 0.01
R4620:Or52e15 UTSW 7 104,645,830 (GRCm39) missense probably damaging 1.00
R4890:Or52e15 UTSW 7 104,645,311 (GRCm39) missense probably benign 0.15
R5338:Or52e15 UTSW 7 104,645,514 (GRCm39) missense possibly damaging 0.61
R5934:Or52e15 UTSW 7 104,645,385 (GRCm39) missense probably damaging 1.00
R6712:Or52e15 UTSW 7 104,645,625 (GRCm39) missense possibly damaging 0.92
R7620:Or52e15 UTSW 7 104,645,962 (GRCm39) missense possibly damaging 0.64
R9088:Or52e15 UTSW 7 104,645,301 (GRCm39) missense probably damaging 1.00
R9435:Or52e15 UTSW 7 104,645,946 (GRCm39) missense probably benign 0.00
Z1088:Or52e15 UTSW 7 104,645,661 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07