Incidental Mutation 'R0478:Or12e7'
ID 43185
Institutional Source Beutler Lab
Gene Symbol Or12e7
Ensembl Gene ENSMUSG00000058194
Gene Name olfactory receptor family 12 subfamily E member 7
Synonyms Olfr1126, MOR264-5, GA_x6K02T2Q125-48959068-48960012
MMRRC Submission 038678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R0478 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 87287511-87288455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87288370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 287 (V287E)
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: V287E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: V287E

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: V287E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,262,014 (GRCm39) noncoding transcript Het
4930556J24Rik T G 11: 3,926,259 (GRCm39) probably benign Het
Acnat1 T G 4: 49,450,901 (GRCm39) D70A probably damaging Het
Adnp2 A G 18: 80,172,549 (GRCm39) V620A probably benign Het
Aldoart1 T A 4: 72,770,580 (GRCm39) H21L probably benign Het
Birc2 A G 9: 7,860,348 (GRCm39) V290A probably damaging Het
Bpifb3 C T 2: 153,773,400 (GRCm39) probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Clmn A G 12: 104,751,750 (GRCm39) M235T probably damaging Het
Dmbt1 A G 7: 130,642,917 (GRCm39) E245G possibly damaging Het
Epgn G T 5: 91,178,987 (GRCm39) V36L probably benign Het
Ets2 C A 16: 95,517,306 (GRCm39) P346Q probably damaging Het
Fam222b T C 11: 78,044,682 (GRCm39) L81P probably damaging Het
Fancf A C 7: 51,511,440 (GRCm39) L188R probably damaging Het
Fibin T C 2: 110,193,079 (GRCm39) D21G possibly damaging Het
Fzd6 A G 15: 38,897,429 (GRCm39) probably null Het
Gbp4 T A 5: 105,267,299 (GRCm39) Q540L probably benign Het
Greb1l T A 18: 10,509,281 (GRCm39) L531Q probably damaging Het
Il5ra A G 6: 106,715,423 (GRCm39) V137A probably benign Het
Kif26a G A 12: 112,142,223 (GRCm39) A826T probably damaging Het
Kiz T C 2: 146,784,078 (GRCm39) V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 (GRCm39) G15D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lbp T C 2: 158,159,448 (GRCm39) probably benign Het
Mmp25 T C 17: 23,851,756 (GRCm39) T318A probably benign Het
Mrpl50 A G 4: 49,514,513 (GRCm39) C53R probably damaging Het
Msl3l2 G C 10: 55,991,411 (GRCm39) E45D probably damaging Het
Nfxl1 A G 5: 72,681,988 (GRCm39) probably null Het
Noc3l A G 19: 38,798,450 (GRCm39) probably null Het
Or1x6 T C 11: 50,939,539 (GRCm39) S202P probably benign Het
Pgm5 A T 19: 24,812,233 (GRCm39) S100T possibly damaging Het
Pi4ka C T 16: 17,127,175 (GRCm39) G1093S possibly damaging Het
Pitrm1 T A 13: 6,609,431 (GRCm39) S350T probably damaging Het
Ptk2b G T 14: 66,450,821 (GRCm39) N48K probably damaging Het
Septin3 T C 15: 82,175,007 (GRCm39) L172P probably damaging Het
Sirt3 A T 7: 140,458,027 (GRCm39) C41S Het
Sphkap C T 1: 83,256,432 (GRCm39) R152H probably damaging Het
St3gal1 T C 15: 66,985,579 (GRCm39) Y25C probably damaging Het
Tbc1d31 T C 15: 57,795,932 (GRCm39) F175S probably damaging Het
Tfdp2 T A 9: 96,172,636 (GRCm39) D43E probably benign Het
Tgm1 G A 14: 55,937,791 (GRCm39) Q773* probably null Het
Tmc3 A T 7: 83,271,360 (GRCm39) R837S possibly damaging Het
Unc13a A G 8: 72,103,792 (GRCm39) V880A possibly damaging Het
Vmn1r237 T A 17: 21,535,081 (GRCm39) V268E probably damaging Het
Zan C T 5: 137,398,788 (GRCm39) probably benign Het
Zfp760 G T 17: 21,940,995 (GRCm39) E57* probably null Het
Other mutations in Or12e7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Or12e7 APN 2 87,288,271 (GRCm39) missense probably damaging 1.00
IGL01875:Or12e7 APN 2 87,287,654 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GCCACCATTCTGAAGTTGCCAACA -3'
(R):5'- ACTGTGGTTCACACTGCACTTATTTGT -3'

Sequencing Primer
(F):5'- GTTGCCAACAGCCACAGG -3'
(R):5'- AGCTATCATTCAAAATGGCACAG -3'
Posted On 2013-05-23