Incidental Mutation 'R8430:Or12e1'
ID 653687
Institutional Source Beutler Lab
Gene Symbol Or12e1
Ensembl Gene ENSMUSG00000044487
Gene Name olfactory receptor family 12 subfamily E member 1
Synonyms MOR264-6, GA_x6K02T2Q125-48676316-48677272, Olfr1112
MMRRC Submission 067775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R8430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 87022033-87022989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 87022564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 178 (S178A)
Ref Sequence ENSEMBL: ENSMUSP00000149960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053050] [ENSMUST00000216772]
AlphaFold A2ATA0
Predicted Effect possibly damaging
Transcript: ENSMUST00000053050
AA Change: S178A

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052341
Gene: ENSMUSG00000044487
AA Change: S178A

DomainStartEndE-ValueType
Pfam:7tm_4 38 315 2.4e-52 PFAM
Pfam:7tm_1 48 297 1.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216772
AA Change: S178A

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,078,981 (GRCm39) T677I probably benign Het
Adh4 T G 3: 138,128,145 (GRCm39) N190K probably damaging Het
Ahnak2 A T 12: 112,741,121 (GRCm39) S984T possibly damaging Het
Aknad1 A G 3: 108,659,037 (GRCm39) D17G possibly damaging Het
Ankrd11 T C 8: 123,620,105 (GRCm39) N1249S probably benign Het
Ankrd31 A G 13: 96,988,199 (GRCm39) K1071E possibly damaging Het
Atp1a3 A G 7: 24,698,437 (GRCm39) L120P probably damaging Het
AU040320 C A 4: 126,742,693 (GRCm39) A986E possibly damaging Het
Camkv T C 9: 107,824,968 (GRCm39) M323T probably damaging Het
Cdh18 T G 15: 23,226,770 (GRCm39) L77R probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Cpeb3 A T 19: 37,002,406 (GRCm39) F669I probably damaging Het
Cramp1 A T 17: 25,196,536 (GRCm39) H859Q probably damaging Het
Csnk1g1 C A 9: 65,906,803 (GRCm39) T140K probably damaging Het
Ctnnbl1 A G 2: 157,678,603 (GRCm39) E402G probably damaging Het
Cyp20a1 T C 1: 60,402,488 (GRCm39) V191A possibly damaging Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Fgfr2 T C 7: 129,765,708 (GRCm39) N835S probably damaging Het
Fggy GCACCA GCA 4: 95,815,002 (GRCm39) probably benign Het
Gpatch1 G A 7: 35,007,634 (GRCm39) T142M probably damaging Het
Gtf3c2 G A 5: 31,330,403 (GRCm39) A189V probably damaging Het
Heatr5b T C 17: 79,137,053 (GRCm39) I156V probably damaging Het
Itpka T A 2: 119,580,035 (GRCm39) V258E probably damaging Het
Klhdc4 A G 8: 122,526,252 (GRCm39) S327P possibly damaging Het
L1td1 C T 4: 98,626,109 (GRCm39) T702I probably damaging Het
Lap3 A G 5: 45,654,726 (GRCm39) D110G probably benign Het
Mab21l1 C A 3: 55,690,830 (GRCm39) A139E probably damaging Het
Myo15b G A 11: 115,773,049 (GRCm39) V173M probably benign Het
Or2a57 G A 6: 43,212,894 (GRCm39) M117I probably benign Het
Or52ab4 G T 7: 102,988,164 (GRCm39) R301L probably benign Het
Or5m10b A T 2: 85,699,526 (GRCm39) M197L probably benign Het
Rdh7 A G 10: 127,723,495 (GRCm39) I120T probably benign Het
Rsph3a G T 17: 8,171,403 (GRCm39) G173W probably damaging Het
Sec22b T C 3: 97,828,546 (GRCm39) F203S probably benign Het
Sulf2 C T 2: 165,916,736 (GRCm39) G867E probably benign Het
Tia1 A T 6: 86,395,906 (GRCm39) D90V probably benign Het
Tiam2 A G 17: 3,568,537 (GRCm39) D1561G probably benign Het
Trav9d-1 A G 14: 53,030,217 (GRCm39) Y107C probably damaging Het
Trim32 T C 4: 65,532,943 (GRCm39) V500A probably damaging Het
Ube2f G A 1: 91,181,989 (GRCm39) probably benign Het
Ulk4 C T 9: 121,086,144 (GRCm39) probably null Het
Zfp940 A G 7: 29,544,771 (GRCm39) F379L probably benign Het
Other mutations in Or12e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Or12e1 APN 2 87,022,192 (GRCm39) missense probably benign 0.00
R0665:Or12e1 UTSW 2 87,022,652 (GRCm39) missense probably damaging 1.00
R1698:Or12e1 UTSW 2 87,022,081 (GRCm39) missense probably benign 0.00
R1717:Or12e1 UTSW 2 87,022,247 (GRCm39) missense probably benign 0.38
R1768:Or12e1 UTSW 2 87,022,042 (GRCm39) missense probably benign
R1872:Or12e1 UTSW 2 87,022,222 (GRCm39) missense possibly damaging 0.96
R3441:Or12e1 UTSW 2 87,022,162 (GRCm39) missense probably benign 0.00
R4017:Or12e1 UTSW 2 87,022,846 (GRCm39) missense probably benign 0.03
R4895:Or12e1 UTSW 2 87,022,192 (GRCm39) missense probably benign 0.00
R5451:Or12e1 UTSW 2 87,022,796 (GRCm39) missense probably damaging 1.00
R6171:Or12e1 UTSW 2 87,022,709 (GRCm39) missense possibly damaging 0.77
R6851:Or12e1 UTSW 2 87,022,813 (GRCm39) missense probably benign 0.37
R7263:Or12e1 UTSW 2 87,022,476 (GRCm39) nonsense probably null
R7622:Or12e1 UTSW 2 87,022,594 (GRCm39) missense probably benign 0.01
R7659:Or12e1 UTSW 2 87,022,709 (GRCm39) missense possibly damaging 0.77
R7798:Or12e1 UTSW 2 87,022,636 (GRCm39) missense probably benign 0.00
R7880:Or12e1 UTSW 2 87,022,434 (GRCm39) nonsense probably null
R8503:Or12e1 UTSW 2 87,022,653 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGGGCCACTGAGTGCTTTATTC -3'
(R):5'- CATGTAGAGAAGGCCTTGGCTC -3'

Sequencing Primer
(F):5'- CTGACGGCTATGGCTTATGACAG -3'
(R):5'- TCTCCCAGTTGCAGATGGAAG -3'
Posted On 2020-10-20