Incidental Mutation 'R1625:Or12e7'
ID 174941
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 039662-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R1625 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87287511-87288455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87288016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 169 (I169K)
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: I169K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: I169K

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: I169K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,857,947 (GRCm39) M605L probably benign Het
Abcc5 A T 16: 20,184,567 (GRCm39) S1031T probably damaging Het
Acot7 T A 4: 152,270,748 (GRCm39) C31S probably benign Het
Acss3 A T 10: 106,773,263 (GRCm39) probably null Het
Adipor1 T C 1: 134,351,802 (GRCm39) F83S possibly damaging Het
Agrn G A 4: 156,257,317 (GRCm39) S1171L probably damaging Het
Aoc1l1 T A 6: 48,952,105 (GRCm39) L10Q probably damaging Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Arid4b T A 13: 14,361,699 (GRCm39) V721D probably damaging Het
Aspm G A 1: 139,408,777 (GRCm39) A2555T probably benign Het
Atp6v0a1 T A 11: 100,946,380 (GRCm39) L791Q probably damaging Het
Car11 A G 7: 45,350,731 (GRCm39) K76E probably benign Het
Casp8ap2 T A 4: 32,648,068 (GRCm39) M1925K probably benign Het
Cc2d1a A T 8: 84,866,001 (GRCm39) L418Q probably damaging Het
Ccl9 G A 11: 83,466,736 (GRCm39) R64W probably damaging Het
Cfap20dc A G 14: 8,431,668 (GRCm38) Y655H probably damaging Het
Cfap43 T A 19: 47,739,527 (GRCm39) K1325N probably damaging Het
Dars2 G A 1: 160,881,614 (GRCm39) P305L possibly damaging Het
Ddx11 C T 17: 66,457,692 (GRCm39) T859I probably benign Het
Dock7 C T 4: 98,850,433 (GRCm39) probably null Het
Efcab6 A G 15: 83,831,839 (GRCm39) V570A probably benign Het
Fermt1 T A 2: 132,764,751 (GRCm39) I369F probably damaging Het
Fras1 A G 5: 96,861,849 (GRCm39) Y2161C probably damaging Het
Fras1 C A 5: 96,857,837 (GRCm39) P2044T possibly damaging Het
Gucy1a1 T C 3: 82,009,362 (GRCm39) I549V probably benign Het
Hspg2 G A 4: 137,246,282 (GRCm39) S1020N probably benign Het
Kif21a A G 15: 90,826,378 (GRCm39) S1360P probably damaging Het
Lrp3 T C 7: 34,903,350 (GRCm39) Y332C probably damaging Het
Ltc4s C A 11: 50,128,215 (GRCm39) A32S possibly damaging Het
Mgrn1 T C 16: 4,728,627 (GRCm39) L84P probably damaging Het
Muc2 C G 7: 141,283,405 (GRCm39) C672W probably damaging Het
Mvp A T 7: 126,600,845 (GRCm39) V52E probably damaging Het
Ndrg2 T C 14: 52,144,420 (GRCm39) T269A probably damaging Het
Notch2 T A 3: 98,018,891 (GRCm39) D684E probably damaging Het
Nup205 A G 6: 35,168,878 (GRCm39) D316G probably benign Het
Or2v2 T C 11: 49,004,071 (GRCm39) M161V probably benign Het
Or7d11 A G 9: 19,966,678 (GRCm39) L27P probably damaging Het
Pcsk1 A T 13: 75,274,971 (GRCm39) D520V probably benign Het
Pik3cg A T 12: 32,244,741 (GRCm39) D904E probably damaging Het
Pitpnm2 T A 5: 124,271,496 (GRCm39) D359V probably benign Het
Ppih T C 4: 119,175,779 (GRCm39) I69V probably damaging Het
Rab11fip3 T C 17: 26,287,865 (GRCm39) E96G possibly damaging Het
Retreg3 C A 11: 100,992,875 (GRCm39) M1I probably null Het
Rfpl4 C T 7: 5,118,409 (GRCm39) V54I possibly damaging Het
Rif1 T C 2: 51,993,652 (GRCm39) I855T probably benign Het
Rrm1 T A 7: 102,117,554 (GRCm39) I748N probably damaging Het
Sap130 T A 18: 31,807,517 (GRCm39) N441K probably damaging Het
Sf3b1 T A 1: 55,058,536 (GRCm39) I18F probably damaging Het
Skor2 A G 18: 76,946,499 (GRCm39) N74D unknown Het
Slc17a6 C A 7: 51,311,208 (GRCm39) F307L probably benign Het
Slc25a13 G A 6: 6,096,675 (GRCm39) L410F probably damaging Het
Slc47a1 A T 11: 61,262,625 (GRCm39) V38E probably damaging Het
Slc8a1 T A 17: 81,956,670 (GRCm39) T123S probably damaging Het
Slc9a5 C A 8: 106,094,755 (GRCm39) T782K possibly damaging Het
Spmip7 C A 11: 11,438,644 (GRCm39) probably benign Het
Sppl2c C A 11: 104,077,995 (GRCm39) T265K probably damaging Het
Srfbp1 A G 18: 52,621,788 (GRCm39) K283R probably benign Het
Ssr1 C T 13: 38,173,479 (GRCm39) probably null Het
Stard3nl T C 13: 19,556,754 (GRCm39) probably null Het
Timeless G T 10: 128,076,493 (GRCm39) S134I probably damaging Het
Tll1 A G 8: 64,494,476 (GRCm39) F760L probably damaging Het
Tspear A G 10: 77,706,333 (GRCm39) I368V probably benign Het
Txnrd2 G T 16: 18,257,116 (GRCm39) W144L probably damaging Het
Unc5d T C 8: 29,173,234 (GRCm39) E668G probably damaging Het
Urb1 C T 16: 90,570,936 (GRCm39) probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vmn1r66 G T 7: 10,008,316 (GRCm39) T239K probably benign Het
Vps39 C T 2: 120,154,106 (GRCm39) V630M probably damaging Het
Wrn T C 8: 33,819,158 (GRCm39) T22A probably benign Het
Zfp7 T A 15: 76,765,374 (GRCm39) D22E probably damaging 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
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
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'- AATTGATCCTGCACTACAGAAGCCC -3'
(R):5'- GGCAACTTCAGAATGGTGGCAATG -3'

Sequencing Primer
(F):5'- TGAGCTGTGCCACACAAATG -3'
(R):5'- GGCAATGATTTTGGTATAAGAGGC -3'
Posted On 2014-04-24