Incidental Mutation 'R0849:Or12e8'
ID 77046
Institutional Source Beutler Lab
Gene Symbol Or12e8
Ensembl Gene ENSMUSG00000081234
Gene Name olfactory receptor family 12 subfamily E member 8
Synonyms Olfr1120, MOR264-2, GA_x6K02T2Q125-48849180-48850100
MMRRC Submission 039028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R0849 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87187790-87188734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87188609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 274 (V274L)
Ref Sequence ENSEMBL: ENSMUSP00000149911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058737] [ENSMUST00000215163]
AlphaFold Q8VGT7
Predicted Effect probably benign
Transcript: ENSMUST00000058737
AA Change: V274L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051931
Gene: ENSMUSG00000081234
AA Change: V274L

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 1.1e-54 PFAM
Pfam:7tm_1 47 296 7.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215163
AA Change: V274L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215282
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T C 12: 52,566,406 (GRCm39) F1126L probably benign Het
Arhgef11 G T 3: 87,643,203 (GRCm39) A1472S probably benign Het
Armc9 G A 1: 86,184,992 (GRCm39) R681K probably benign Het
Atxn2 T A 5: 121,885,484 (GRCm39) probably null Het
B3gnt6 C A 7: 97,843,950 (GRCm39) L3F probably benign Het
Cand2 A G 6: 115,769,352 (GRCm39) T721A probably damaging Het
Cntn2 A T 1: 132,450,124 (GRCm39) M590K probably benign Het
Cntn4 A T 6: 106,644,418 (GRCm39) D622V probably damaging Het
Des T G 1: 75,337,272 (GRCm39) S71A probably benign Het
Dnah5 C A 15: 28,263,745 (GRCm39) R827S probably damaging Het
Dstn G A 2: 143,780,455 (GRCm39) G52S probably benign Het
Eln T A 5: 134,736,835 (GRCm39) R704* probably null Het
Fezf2 T A 14: 12,342,607 (GRCm38) K419N probably damaging Het
Gm2381 G A 7: 42,469,372 (GRCm39) Q251* probably null Het
Grin3a G A 4: 49,665,501 (GRCm39) R1045* probably null Het
Herc2 T A 7: 55,856,326 (GRCm39) H3921Q probably damaging Het
Hs3st2 A G 7: 121,100,255 (GRCm39) E367G possibly damaging Het
Hydin G A 8: 111,325,616 (GRCm39) R4675H probably damaging Het
Inhca A C 9: 103,140,256 (GRCm39) Y488D possibly damaging Het
Irf2bp1 T C 7: 18,738,659 (GRCm39) S100P possibly damaging Het
Itga10 A G 3: 96,559,846 (GRCm39) I500M possibly damaging Het
Kcnt2 T C 1: 140,435,500 (GRCm39) V496A probably damaging Het
Mansc1 T C 6: 134,587,670 (GRCm39) D169G probably benign Het
Mdn1 T A 4: 32,741,835 (GRCm39) S3869T probably damaging Het
Mrgprb4 G A 7: 47,848,868 (GRCm39) T20I probably benign Het
Nek4 A G 14: 30,679,253 (GRCm39) E198G probably damaging Het
Or2y10 G A 11: 49,455,129 (GRCm39) C127Y probably damaging Het
Or5w11 C A 2: 87,459,626 (GRCm39) T273K possibly damaging Het
Ppfia4 A T 1: 134,247,110 (GRCm39) F537I probably benign Het
Rarb A G 14: 16,434,293 (GRCm38) V295A probably damaging Het
Ryr1 A G 7: 28,740,104 (GRCm39) S3941P probably damaging Het
Scnn1b A G 7: 121,511,698 (GRCm39) N370S probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Sv2c C T 13: 96,126,319 (GRCm39) G311D probably damaging Het
Tas2r109 T C 6: 132,957,856 (GRCm39) I25V probably benign Het
Tbcel A C 9: 42,348,453 (GRCm39) I305S probably damaging Het
Tmem35b A G 4: 127,019,990 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Tmtc4 A G 14: 123,182,966 (GRCm39) I244T possibly damaging Het
Usp9y C A Y: 1,394,002 (GRCm39) C576F probably damaging Het
Vcan A T 13: 89,853,072 (GRCm39) N629K possibly damaging Het
Vmn2r22 T C 6: 123,614,363 (GRCm39) Y409C probably damaging Het
Vmn2r-ps158 A G 7: 42,674,142 (GRCm39) Y400C probably damaging Het
Other mutations in Or12e8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01142:Or12e8 APN 2 87,187,889 (GRCm39) missense possibly damaging 0.82
IGL01680:Or12e8 APN 2 87,188,249 (GRCm39) missense probably damaging 1.00
IGL02210:Or12e8 APN 2 87,188,347 (GRCm39) missense probably damaging 1.00
R0624:Or12e8 UTSW 2 87,188,026 (GRCm39) nonsense probably null
R1298:Or12e8 UTSW 2 87,188,414 (GRCm39) missense probably benign 0.20
R2309:Or12e8 UTSW 2 87,188,298 (GRCm39) missense probably damaging 1.00
R4237:Or12e8 UTSW 2 87,188,597 (GRCm39) missense probably damaging 1.00
R4291:Or12e8 UTSW 2 87,188,419 (GRCm39) missense probably benign 0.00
R5679:Or12e8 UTSW 2 87,187,889 (GRCm39) missense possibly damaging 0.82
R5939:Or12e8 UTSW 2 87,188,048 (GRCm39) missense possibly damaging 0.55
R6269:Or12e8 UTSW 2 87,677,218 (GRCm39) missense possibly damaging 0.65
R6551:Or12e8 UTSW 2 87,677,005 (GRCm39) missense possibly damaging 0.89
R7024:Or12e8 UTSW 2 87,188,066 (GRCm39) missense probably benign 0.06
R7242:Or12e8 UTSW 2 87,188,426 (GRCm39) missense probably benign 0.13
R7359:Or12e8 UTSW 2 87,188,555 (GRCm39) missense possibly damaging 0.77
R7444:Or12e8 UTSW 2 87,188,444 (GRCm39) missense possibly damaging 0.94
R7488:Or12e8 UTSW 2 87,188,597 (GRCm39) missense probably damaging 1.00
R7646:Or12e8 UTSW 2 87,188,102 (GRCm39) missense probably benign 0.00
R7711:Or12e8 UTSW 2 87,187,871 (GRCm39) missense probably benign 0.02
R8963:Or12e8 UTSW 2 87,187,950 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCTTCCTACAGCAAAATCATTGCTACC -3'
(R):5'- TGATGACTACTGCTCTCAACTGCATACA -3'

Sequencing Primer
(F):5'- GCTACCATTCTAAAGTTGCCAACAG -3'
(R):5'- GCCACTTTTTTGAGATGAACGTAG -3'
Posted On 2013-10-16