Incidental Mutation 'R5200:Or12e9'
ID 400649
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5200 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87201878-87202822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87202446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 190 (V190E)
Ref Sequence ENSEMBL: ENSMUSP00000150120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062555] [ENSMUST00000213792]
AlphaFold L7MTT1
Predicted Effect probably damaging
Transcript: ENSMUST00000062555
AA Change: V190E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058201
Gene: ENSMUSG00000070852
AA Change: V190E

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 3.3e-54 PFAM
Pfam:7tm_1 47 296 3.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213792
AA Change: V190E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,010,734 (GRCm39) V497A probably benign Het
Alx3 T C 3: 107,507,980 (GRCm39) F163S possibly damaging Het
Ankmy1 T C 1: 92,798,014 (GRCm39) R997G probably benign Het
Arfgef2 T C 2: 166,702,604 (GRCm39) S848P probably benign Het
Atp11b A G 3: 35,891,156 (GRCm39) I810V probably benign Het
C1ql4 T G 15: 98,982,718 (GRCm39) I212L probably benign Het
Cep63 T C 9: 102,475,387 (GRCm39) Y443C probably benign Het
Cfap45 C T 1: 172,372,696 (GRCm39) Q464* probably null Het
Clcn3 T C 8: 61,376,039 (GRCm39) K618R probably damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnaaf4 T C 9: 72,879,713 (GRCm39) S418P probably damaging Het
H2-M10.2 T G 17: 36,595,641 (GRCm39) R216S probably benign Het
Hook1 A G 4: 95,881,367 (GRCm39) D113G probably damaging Het
Ift122 A G 6: 115,897,340 (GRCm39) E914G probably damaging Het
Insr A G 8: 3,248,059 (GRCm39) probably null Het
Itpr2 A T 6: 146,045,605 (GRCm39) probably null Het
Myo6 C T 9: 80,183,656 (GRCm39) Q684* probably null Het
Nrde2 T A 12: 100,096,756 (GRCm39) I1015F possibly damaging Het
Or2d4 G A 7: 106,544,187 (GRCm39) T7I possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pappa A T 4: 65,074,076 (GRCm39) N210I probably damaging Het
Pax4 G A 6: 28,445,138 (GRCm39) P179L probably damaging Het
Pcx G A 19: 4,668,532 (GRCm39) D656N probably damaging Het
Pms1 T A 1: 53,245,916 (GRCm39) H541L probably benign Het
Pten C T 19: 32,777,291 (GRCm39) P95L probably damaging Het
Rsrc2 G A 5: 123,877,562 (GRCm39) R140* probably null Het
Shc3 T C 13: 51,670,601 (GRCm39) M49V probably damaging Het
Snap91 C G 9: 86,697,497 (GRCm39) K288N probably damaging Het
Spag17 C T 3: 99,970,787 (GRCm39) Q1324* probably null Het
Tasor A G 14: 27,151,183 (GRCm39) E53G probably benign Het
Tfr2 A G 5: 137,569,242 (GRCm39) probably benign Het
Tgfbrap1 A T 1: 43,114,803 (GRCm39) I99K probably damaging Het
Tmem38a T A 8: 73,333,878 (GRCm39) V119E probably damaging Het
Tmtc4 T G 14: 123,182,969 (GRCm39) D243A probably benign Het
Tnc A T 4: 63,889,515 (GRCm39) S1755T probably damaging Het
Trim67 T C 8: 125,551,589 (GRCm39) S590P probably damaging Het
Ttn T A 2: 76,590,287 (GRCm39) T12814S probably damaging Het
Uspl1 T A 5: 149,150,923 (GRCm39) S708T probably benign Het
Vmn2r69 A T 7: 85,055,717 (GRCm39) F807Y probably damaging Het
Vmn2r97 C T 17: 19,148,615 (GRCm39) P170L probably damaging Het
Zfp612 C T 8: 110,816,532 (GRCm39) Q580* probably null 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
R2404:Or12e9 UTSW 2 87,202,568 (GRCm39) missense probably benign 0.09
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
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'- CTAATGTTGGCAGCCACTGAAAG -3'
(R):5'- TGAAGAAGGCTTTCGATCGTC -3'

Sequencing Primer
(F):5'- GGCAGCCACTGAAAGTATTTTTCTCG -3'
(R):5'- AGAAGGCTTTCGATCGTCCTTCAG -3'
Posted On 2016-07-06