Incidental Mutation 'R2404:Or12e9'
ID 248847
Institutional Source Beutler Lab
Gene Symbol Or12e9
Ensembl Gene ENSMUSG00000070852
Gene Name olfactory receptor family 12 subfamily E member 9
Synonyms Olfr1121, GA_x6K02T2Q125-48863863-48864807, MOR264-18
MMRRC Submission 040370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2404 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 87201878-87202822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87202568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 231 (I231V)
Ref Sequence ENSEMBL: ENSMUSP00000150120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062555] [ENSMUST00000213792]
AlphaFold L7MTT1
Predicted Effect probably benign
Transcript: ENSMUST00000062555
AA Change: I231V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000058201
Gene: ENSMUSG00000070852
AA Change: I231V

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 3.3e-54 PFAM
Pfam:7tm_1 47 296 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213792
AA Change: I231V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.3599 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.2%
Validation Efficiency 98% (52/53)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,923 (GRCm39) T98A possibly damaging Het
Aifm2 A G 10: 61,563,974 (GRCm39) I161V probably benign Het
Arhgef26 T C 3: 62,336,336 (GRCm39) M625T possibly damaging Het
Atp9a T A 2: 168,517,283 (GRCm39) probably null Het
Avpr1a T C 10: 122,285,115 (GRCm39) F136L possibly damaging Het
Bcas3 T C 11: 85,245,715 (GRCm39) probably benign Het
Bnc1 A T 7: 81,618,463 (GRCm39) H867Q probably benign Het
Cdh12 C T 15: 21,537,720 (GRCm39) T407I probably damaging Het
Chd5 C T 4: 152,451,791 (GRCm39) T701M probably damaging Het
Dhx57 A G 17: 80,561,733 (GRCm39) V927A probably damaging Het
Dnah2 A G 11: 69,328,047 (GRCm39) F3353L probably damaging Het
Ect2 G A 3: 27,185,999 (GRCm39) P495S probably benign Het
Egfl7 G A 2: 26,479,162 (GRCm39) E25K possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hbs1l A T 10: 21,171,946 (GRCm39) probably benign Het
Insrr C T 3: 87,709,974 (GRCm39) T309I possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif12 A C 4: 63,088,790 (GRCm39) L170R probably damaging Het
Krt90 A G 15: 101,463,105 (GRCm39) probably null Het
Mcu A G 10: 59,303,526 (GRCm39) S104P probably damaging Het
Mical3 G A 6: 120,936,789 (GRCm39) P374S probably benign Het
Ncam2 A T 16: 81,287,128 (GRCm39) probably benign Het
Or2t47 A T 11: 58,442,546 (GRCm39) I173N probably damaging Het
Or2w1b T C 13: 21,300,012 (GRCm39) L50P probably damaging Het
Or5k17 G A 16: 58,745,998 (GRCm39) S312L probably benign Het
Otud7a A G 7: 63,346,899 (GRCm39) S158G probably benign Het
Phlpp1 C T 1: 106,100,569 (GRCm39) T279M probably benign Het
Pkhd1l1 T G 15: 44,414,216 (GRCm39) W2828G probably damaging Het
Pnma8a A T 7: 16,694,316 (GRCm39) N57I probably damaging Het
Ppp4r4 A G 12: 103,547,749 (GRCm39) probably null Het
Ptprq T C 10: 107,522,460 (GRCm39) Y531C probably damaging Het
Rai1 A G 11: 60,080,750 (GRCm39) T1605A probably benign Het
Satb2 T C 1: 56,987,267 (GRCm39) Y106C probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc19a3 T A 1: 83,000,756 (GRCm39) H87L probably benign Het
Slc4a7 G T 14: 14,733,733 (GRCm38) V54L probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spen T C 4: 141,205,216 (GRCm39) N1137S unknown Het
Spice1 T C 16: 44,186,989 (GRCm39) I162T probably benign Het
Spmip1 G A 6: 29,473,390 (GRCm39) R173Q probably benign Het
Sqor A T 2: 122,649,943 (GRCm39) T396S probably benign Het
Tshz3 A T 7: 36,469,805 (GRCm39) Q598L probably damaging Het
Ttc13 C T 8: 125,405,736 (GRCm39) probably benign Het
Ubxn2a T C 12: 4,933,851 (GRCm39) T187A probably benign Het
Usp28 T C 9: 48,948,558 (GRCm39) probably null Het
Zc3h12a T C 4: 125,013,316 (GRCm39) Y516C probably damaging Het
Zfp616 A C 11: 73,975,682 (GRCm39) K650N probably damaging Het
Other mutations in Or12e9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02534:Or12e9 APN 2 87,202,598 (GRCm39) missense probably benign
IGL03280:Or12e9 APN 2 87,202,467 (GRCm39) missense probably damaging 1.00
R0501:Or12e9 UTSW 2 87,201,896 (GRCm39) missense probably damaging 0.96
R1350:Or12e9 UTSW 2 87,202,701 (GRCm39) missense probably benign
R1713:Or12e9 UTSW 2 87,202,290 (GRCm39) missense probably damaging 1.00
R4737:Or12e9 UTSW 2 87,202,665 (GRCm39) missense probably damaging 0.99
R4825:Or12e9 UTSW 2 87,202,432 (GRCm39) nonsense probably null
R5109:Or12e9 UTSW 2 87,201,878 (GRCm39) start codon destroyed probably null 0.04
R5200:Or12e9 UTSW 2 87,202,446 (GRCm39) missense probably damaging 0.99
R6393:Or12e9 UTSW 2 87,201,909 (GRCm39) missense probably damaging 1.00
R6658:Or12e9 UTSW 2 87,202,497 (GRCm39) missense probably benign 0.01
R7011:Or12e9 UTSW 2 87,202,604 (GRCm39) missense possibly damaging 0.74
R7427:Or12e9 UTSW 2 87,202,034 (GRCm39) missense probably benign 0.01
R7428:Or12e9 UTSW 2 87,202,034 (GRCm39) missense probably benign 0.01
R7671:Or12e9 UTSW 2 87,202,613 (GRCm39) missense probably damaging 1.00
R8268:Or12e9 UTSW 2 87,202,332 (GRCm39) missense probably damaging 0.97
R9015:Or12e9 UTSW 2 87,202,485 (GRCm39) missense possibly damaging 0.48
R9344:Or12e9 UTSW 2 87,202,161 (GRCm39) missense possibly damaging 0.89
R9468:Or12e9 UTSW 2 87,202,116 (GRCm39) missense probably damaging 1.00
R9492:Or12e9 UTSW 2 87,201,960 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CGTTTCAGGTTGGGCAAAC -3'
(R):5'- ATATCATGGGATTGAACACGGG -3'

Sequencing Primer
(F):5'- GGGCAAACCTGTCAAATATTCTCTC -3'
(R):5'- TTGAACACGGGGGTGATGATG -3'
Posted On 2014-11-11