Incidental Mutation 'R6171:Or12e1'
ID 490419
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 044314-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6171 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87022033-87022989 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87022709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 226 (V226E)
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: V226E

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052341
Gene: ENSMUSG00000044487
AA Change: V226E

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: V226E

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 100% (47/47)
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
Adprs A G 4: 126,211,110 (GRCm39) V269A probably damaging Het
Atp11a T A 8: 12,882,663 (GRCm39) V517D probably damaging Het
Atr C T 9: 95,763,324 (GRCm39) Q1073* probably null Het
C87436 A C 6: 86,422,449 (GRCm39) T8P probably benign Het
Clasrp T C 7: 19,318,747 (GRCm39) probably benign Het
Creb3l1 G T 2: 91,821,614 (GRCm39) Q254K probably damaging Het
Dapl1 C A 2: 59,326,946 (GRCm39) T64K probably benign Het
Dnah2 A T 11: 69,313,868 (GRCm39) L4168Q probably damaging Het
Dnttip2 T A 3: 122,072,511 (GRCm39) I597N probably damaging Het
Dyrk1b A T 7: 27,885,975 (GRCm39) probably null Het
Elk3 G T 10: 93,085,906 (GRCm39) P132Q probably damaging Het
Galt C T 4: 41,757,541 (GRCm39) P238S probably damaging Het
Gm10322 T C 10: 59,452,084 (GRCm39) V67A possibly damaging Het
Ice1 T C 13: 70,754,850 (GRCm39) Y412C probably benign Het
Kcna1 A T 6: 126,619,286 (GRCm39) Y345N probably damaging Het
Kif1b T C 4: 149,342,505 (GRCm39) Y419C probably damaging Het
Klf15 G T 6: 90,443,601 (GRCm39) A59S possibly damaging Het
Mettl17 T A 14: 52,126,236 (GRCm39) Y162N probably damaging Het
Myh10 G A 11: 68,682,716 (GRCm39) R1050Q probably damaging Het
Nek4 T C 14: 30,692,304 (GRCm39) V376A probably benign Het
Nemp1 T A 10: 127,525,319 (GRCm39) probably null Het
Nlrp9a T C 7: 26,258,188 (GRCm39) I602T possibly damaging Het
Nphp4 T C 4: 152,628,906 (GRCm39) V764A probably damaging Het
Or8c17 C T 9: 38,179,898 (GRCm39) Q22* probably null Het
Osbp2 A T 11: 3,667,221 (GRCm39) probably null Het
Pax2 A G 19: 44,779,179 (GRCm39) Y185C probably damaging Het
Pdyn A T 2: 129,530,268 (GRCm39) S134T possibly damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Ppp1r13l A G 7: 19,111,436 (GRCm39) M754V probably benign Het
Prr23a3 T A 9: 98,747,731 (GRCm39) N228K probably benign Het
Psmd12 T C 11: 107,382,733 (GRCm39) F213L probably damaging Het
Qser1 A T 2: 104,619,628 (GRCm39) S395T probably damaging Het
Rab7b A G 1: 131,626,372 (GRCm39) probably null Het
Rev3l T A 10: 39,738,709 (GRCm39) L2821* probably null Het
Rplp0 A G 5: 115,699,219 (GRCm39) N127S probably benign Het
Serpina9 G T 12: 103,974,678 (GRCm39) Y158* probably null Het
Sis G A 3: 72,868,360 (GRCm39) T110M possibly damaging Het
Slc43a2 A G 11: 75,453,876 (GRCm39) Y263C probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stard13 A T 5: 151,016,227 (GRCm39) V88E probably damaging Het
Trim29 G A 9: 43,230,674 (GRCm39) E286K probably damaging Het
Vmn2r24 T C 6: 123,764,205 (GRCm39) S361P probably damaging Het
Wnk2 T C 13: 49,214,308 (GRCm39) T18A probably damaging Het
Xylb C T 9: 119,210,657 (GRCm39) T380M probably damaging Het
Zbtb5 T C 4: 44,994,119 (GRCm39) T422A probably benign Het
Zhx2 A G 15: 57,686,602 (GRCm39) E657G probably damaging 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
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
R8430:Or12e1 UTSW 2 87,022,564 (GRCm39) missense possibly damaging 0.70
R8503:Or12e1 UTSW 2 87,022,653 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCAGCTGGCTGTTGGATAAG -3'
(R):5'- TTGAACAGTGGAGTCACAACAG -3'

Sequencing Primer
(F):5'- AGGGTTCACATACTGGATCTTC -3'
(R):5'- ACAGTGGAGTCACAACAGTATAG -3'
Posted On 2017-10-10