Incidental Mutation 'IGL01875:Or12e7'
ID 178848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or12e7
Ensembl Gene ENSMUSG00000058194
Gene Name olfactory receptor family 12 subfamily E member 7
Synonyms Olfr1126, MOR264-5, GA_x6K02T2Q125-48959068-48960012
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01875
Quality Score
Status
Chromosome 2
Chromosomal Location 87287511-87288455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87287654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 48 (N48K)
Ref Sequence ENSEMBL: ENSMUSP00000150504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071355] [ENSMUST00000213366]
AlphaFold Q7TR49
Predicted Effect probably damaging
Transcript: ENSMUST00000071355
AA Change: N48K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: N48K

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 8.6e-52 PFAM
Pfam:7tm_1 47 296 8.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213366
AA Change: N48K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,663,682 (GRCm39) T287A probably damaging Het
Afm G T 5: 90,696,742 (GRCm39) probably benign Het
Ankrd24 A G 10: 81,465,571 (GRCm39) probably benign Het
Ankrd53 G T 6: 83,740,031 (GRCm39) E62* probably null Het
Atg4b A G 1: 93,706,032 (GRCm39) S162G probably damaging Het
B530045E10Rik A T 10: 99,258,177 (GRCm39) noncoding transcript Het
Ccng1 A G 11: 40,643,183 (GRCm39) V88A probably benign Het
Ces1e T A 8: 93,950,524 (GRCm39) M86L probably benign Het
Chrne A T 11: 70,509,498 (GRCm39) probably null Het
Ctsh T C 9: 89,946,260 (GRCm39) S109P probably damaging Het
Eif4g1 A C 16: 20,499,790 (GRCm39) I420L probably damaging Het
Ep300 T A 15: 81,524,224 (GRCm39) S1351T unknown Het
Fgfr1 A G 8: 26,063,569 (GRCm39) M732V possibly damaging Het
Gata5 T G 2: 179,969,138 (GRCm39) probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm3633 A T 14: 42,461,234 (GRCm39) M18K probably damaging Het
Gucy1b2 A G 14: 62,657,595 (GRCm39) L211P probably damaging Het
Hemgn T C 4: 46,396,994 (GRCm39) N81D possibly damaging Het
Irs2 A T 8: 11,056,221 (GRCm39) M737K probably damaging Het
Itgb7 C A 15: 102,126,430 (GRCm39) C502F probably damaging Het
Jakmip1 G T 5: 37,278,324 (GRCm39) A534S probably damaging Het
Kidins220 A G 12: 25,107,728 (GRCm39) H1636R probably benign Het
Kirrel1 T A 3: 87,003,037 (GRCm39) I119F probably damaging Het
Lrba T C 3: 86,217,354 (GRCm39) V527A probably damaging Het
Mitf A G 6: 97,994,856 (GRCm39) E409G probably benign Het
Mtrr T G 13: 68,720,728 (GRCm39) K289T probably damaging Het
Muc2 A T 7: 141,306,477 (GRCm39) I739F probably damaging Het
Ncor2 T C 5: 125,142,934 (GRCm39) T612A unknown Het
Or1x2 A T 11: 50,918,202 (GRCm39) R124S probably damaging Het
Or6c213 T A 10: 129,574,791 (GRCm39) probably benign Het
Or8b42 T A 9: 38,341,594 (GRCm39) N5K probably damaging Het
P4ha3 T A 7: 99,949,859 (GRCm39) C109S probably damaging Het
Prkd3 T C 17: 79,264,635 (GRCm39) E660G possibly damaging Het
Rbm4b G A 19: 4,812,219 (GRCm39) M209I probably benign Het
Reln T A 5: 22,109,715 (GRCm39) T3132S probably benign Het
Selenbp2 T A 3: 94,605,451 (GRCm39) D92E possibly damaging Het
Slfn8 G T 11: 82,894,905 (GRCm39) Q634K probably benign Het
Sumo3 A T 10: 77,449,832 (GRCm39) I57F probably benign Het
Tacr1 A G 6: 82,533,997 (GRCm39) Y341C probably benign Het
Tlr4 T A 4: 66,757,726 (GRCm39) L173Q probably damaging Het
Tshz3 C T 7: 36,469,385 (GRCm39) T458M probably damaging Het
Vmn1r91 T A 7: 19,835,859 (GRCm39) C259* probably null Het
Vmn2r16 T C 5: 109,478,277 (GRCm39) F11L probably benign Het
Vmn2r28 T A 7: 5,484,302 (GRCm39) M633L probably benign Het
Vmn2r35 T C 7: 7,819,772 (GRCm39) probably benign Het
Vwc2l G T 1: 70,768,172 (GRCm39) A79S probably benign Het
Zfhx2 G A 14: 55,301,372 (GRCm39) S2204F unknown Het
Other mutations in Or12e7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Or12e7 APN 2 87,288,271 (GRCm39) missense probably damaging 1.00
IGL02207:Or12e7 APN 2 87,287,794 (GRCm39) missense probably benign 0.22
R0238:Or12e7 UTSW 2 87,288,381 (GRCm39) missense probably benign 0.00
R0238:Or12e7 UTSW 2 87,288,381 (GRCm39) missense probably benign 0.00
R0239:Or12e7 UTSW 2 87,288,381 (GRCm39) missense probably benign 0.00
R0239:Or12e7 UTSW 2 87,288,381 (GRCm39) missense probably benign 0.00
R0478:Or12e7 UTSW 2 87,288,370 (GRCm39) missense probably damaging 0.99
R1055:Or12e7 UTSW 2 87,287,781 (GRCm39) small deletion probably benign
R1438:Or12e7 UTSW 2 87,288,336 (GRCm39) missense probably benign 0.00
R1625:Or12e7 UTSW 2 87,288,016 (GRCm39) missense probably damaging 1.00
R1912:Or12e7 UTSW 2 87,287,727 (GRCm39) missense probably damaging 1.00
R3052:Or12e7 UTSW 2 87,288,247 (GRCm39) missense probably damaging 1.00
R4638:Or12e7 UTSW 2 87,288,327 (GRCm39) missense possibly damaging 0.60
R5102:Or12e7 UTSW 2 87,288,138 (GRCm39) missense probably benign
R5526:Or12e7 UTSW 2 87,288,109 (GRCm39) missense probably benign 0.01
R5825:Or12e7 UTSW 2 87,287,794 (GRCm39) missense probably benign 0.22
R5965:Or12e7 UTSW 2 87,288,381 (GRCm39) missense probably benign 0.14
R6505:Or12e7 UTSW 2 87,288,271 (GRCm39) missense probably damaging 1.00
R7494:Or12e7 UTSW 2 87,287,912 (GRCm39) missense probably damaging 0.99
R8081:Or12e7 UTSW 2 87,287,513 (GRCm39) start codon destroyed probably null 0.63
R9228:Or12e7 UTSW 2 87,287,907 (GRCm39) missense possibly damaging 0.87
R9337:Or12e7 UTSW 2 87,287,527 (GRCm39) missense probably benign
R9755:Or12e7 UTSW 2 87,287,719 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07