Incidental Mutation 'R5526:Or12e7'
ID 431839
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 043084-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5526 (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 C at 87288109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 200 (I200T)
Ref Sequence ENSEMBL: ENSMUSP00000150504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071355] [ENSMUST00000213366]
AlphaFold Q7TR49
Predicted Effect probably benign
Transcript: ENSMUST00000071355
AA Change: I200T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: I200T

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 8.6e-52 PFAM
Pfam:7tm_1 47 296 8.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213366
AA Change: I200T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,331,605 (GRCm39) M1315K probably benign Het
Abcc4 C T 14: 118,868,449 (GRCm39) V168I probably benign Het
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Angpt1 A G 15: 42,375,737 (GRCm39) L173P probably damaging Het
Crls1 T A 2: 132,703,165 (GRCm39) M205K possibly damaging Het
Cspg4b T C 13: 113,504,427 (GRCm39) V1852A probably benign Het
Dhtkd1 A T 2: 5,916,662 (GRCm39) N671K probably damaging Het
Dmbt1 A T 7: 130,642,920 (GRCm39) D246V probably damaging Het
Dolk G A 2: 30,175,820 (GRCm39) A75V probably damaging Het
Dtna T A 18: 23,779,287 (GRCm39) V623E probably damaging Het
Elavl3 T C 9: 21,947,622 (GRCm39) T106A probably benign Het
Ergic1 T C 17: 26,843,652 (GRCm39) C41R probably damaging Het
Fat2 T A 11: 55,160,187 (GRCm39) I3309F possibly damaging Het
Fbn1 C A 2: 125,207,559 (GRCm39) R978L possibly damaging Het
Fzd6 A T 15: 38,894,559 (GRCm39) S242C possibly damaging Het
Galntl6 T A 8: 58,926,004 (GRCm39) H87L probably benign Het
Gatad2a T C 8: 70,388,591 (GRCm39) E32G probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm11541 G T 11: 94,594,944 (GRCm39) H41Q unknown Het
Has3 A G 8: 107,600,579 (GRCm39) T14A probably damaging Het
Kmt2b A G 7: 30,279,869 (GRCm39) L1377P probably damaging Het
Lcorl T C 5: 45,891,069 (GRCm39) N428S probably benign Het
Lipo5 A T 19: 33,445,284 (GRCm39) V95D unknown Het
Lrp1 A T 10: 127,391,593 (GRCm39) V2942D probably benign Het
Map1a T C 2: 121,136,143 (GRCm39) S2082P probably damaging Het
Mast4 T C 13: 102,890,723 (GRCm39) S852G possibly damaging Het
Mlh3 A T 12: 85,316,147 (GRCm39) L13* probably null Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nlrp9c T A 7: 26,081,791 (GRCm39) N645I possibly damaging Het
Or12d17 T A 17: 37,778,003 (GRCm39) L302Q unknown Het
Or14j7 T A 17: 38,235,383 (GRCm39) *309K probably null Het
Or7e166 C A 9: 19,624,994 (GRCm39) Y290* probably null Het
Or8g52 A T 9: 39,630,892 (GRCm39) Y123F possibly damaging Het
Pex12 A G 11: 83,187,090 (GRCm39) V286A possibly damaging Het
Phax C T 18: 56,717,382 (GRCm39) T275I probably damaging Het
Phf21b A G 15: 84,676,006 (GRCm39) V335A probably benign Het
Psg18 A T 7: 18,083,273 (GRCm39) L173H probably damaging Het
Rab3ip T C 10: 116,754,834 (GRCm39) T209A possibly damaging Het
Ralgapb T C 2: 158,274,705 (GRCm39) V202A probably damaging Het
Rpn2 T C 2: 157,165,187 (GRCm39) L611P probably damaging Het
Runx2 T G 17: 45,035,749 (GRCm39) T148P probably damaging Het
Sbpl C A 17: 24,173,623 (GRCm39) D50Y probably damaging Het
Scn5a G A 9: 119,350,237 (GRCm39) P879L probably damaging Het
Sfn T C 4: 133,328,915 (GRCm39) R56G probably damaging Het
Spata31g1 T C 4: 42,972,125 (GRCm39) V486A possibly damaging Het
Tas2r138 C T 6: 40,589,914 (GRCm39) A111T probably benign Het
Tasp1 A T 2: 139,850,709 (GRCm39) S105T probably damaging Het
Tmem225 T G 9: 40,062,002 (GRCm39) H205Q possibly damaging Het
Tmprss7 A G 16: 45,481,267 (GRCm39) S640P probably damaging Het
Utp4 G A 8: 107,644,265 (GRCm39) A535T possibly damaging Het
Vmn1r203 A T 13: 22,708,273 (GRCm39) D18V probably benign Het
Vmn2r58 A G 7: 41,522,069 (GRCm39) L9P probably benign Het
Zcchc2 T A 1: 105,957,984 (GRCm39) C420* probably null Het
Zfp804a A G 2: 82,088,934 (GRCm39) D921G probably benign 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
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
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'- GGTCATGAACCCAACAAAGTGC -3'
(R):5'- AGAATGGGTGGACTTTGGCC -3'

Sequencing Primer
(F):5'- AAAGTGCACTCAGCTGGC -3'
(R):5'- CCTCAAGTAGGTAATAGTAGCTGATC -3'
Posted On 2016-10-05