Incidental Mutation 'R7379:Or12e13'
ID 572559
Institutional Source Beutler Lab
Gene Symbol Or12e13
Ensembl Gene ENSMUSG00000061875
Gene Name olfactory receptor family 12 subfamily E member 13
Synonyms Olfr1148, MOR264-7, GA_x6K02T2Q125-49334566-49335510
MMRRC Submission 045461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7379 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 87663385-87664329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87664123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 247 (C247S)
Ref Sequence ENSEMBL: ENSMUSP00000149438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077580] [ENSMUST00000215230]
AlphaFold Q7TR35
Predicted Effect probably damaging
Transcript: ENSMUST00000077580
AA Change: C247S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076778
Gene: ENSMUSG00000061875
AA Change: C247S

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 4.1e-54 PFAM
Pfam:7tm_1 47 296 4.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215230
AA Change: C247S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
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
Ankrd12 G A 17: 66,292,242 (GRCm39) R1064* probably null Het
Ccdc149 A G 5: 52,562,408 (GRCm39) I206T probably damaging Het
Ctu1 AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG AGGACCGGGCAGGAGCCACCTGTGTATCGCAG 7: 43,326,490 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,414,183 (GRCm39) T361A probably damaging Het
Cyp4a14 A T 4: 115,350,907 (GRCm39) probably null Het
Cyp7b1 A G 3: 18,151,538 (GRCm39) V225A probably benign Het
Esf1 A G 2: 139,996,854 (GRCm39) I503T probably benign Het
Flrt2 G A 12: 95,747,329 (GRCm39) V556I possibly damaging Het
Gaa T C 11: 119,174,525 (GRCm39) S791P probably benign Het
H2-T22 A G 17: 36,353,232 (GRCm39) probably null Het
Hexb A G 13: 97,317,672 (GRCm39) S342P probably damaging Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ift57 A G 16: 49,581,357 (GRCm39) E341G probably damaging Het
Itpkc A T 7: 26,927,194 (GRCm39) I240K probably benign Het
Kit A T 5: 75,808,412 (GRCm39) S719C probably damaging Het
Klf1 T A 8: 85,629,846 (GRCm39) Y224N possibly damaging Het
Krt77 T C 15: 101,769,709 (GRCm39) E387G probably damaging Het
L3mbtl1 T A 2: 162,802,899 (GRCm39) D347E probably damaging Het
Map1s A G 8: 71,366,219 (GRCm39) T375A possibly damaging Het
Mturn A G 6: 54,666,069 (GRCm39) T81A possibly damaging Het
Mug2 A G 6: 122,024,446 (GRCm39) E506G possibly damaging Het
Notch1 A G 2: 26,369,479 (GRCm39) F512S probably damaging Het
Or10g1 T C 14: 52,647,718 (GRCm39) T204A probably benign Het
Or4c12b T A 2: 89,647,033 (GRCm39) V115E probably benign Het
Or9s14 G T 1: 92,536,189 (GRCm39) C210F possibly damaging Het
Pcdhga10 A G 18: 37,880,619 (GRCm39) N127D probably damaging Het
Plb1 A G 5: 32,502,983 (GRCm39) I1148V probably damaging Het
Plcb1 A G 2: 135,212,430 (GRCm39) D1007G probably benign Het
Prdm16 T A 4: 154,613,316 (GRCm39) E37V probably damaging Het
Prss45 C A 9: 110,668,261 (GRCm39) N151K possibly damaging Het
Rngtt A T 4: 33,498,981 (GRCm39) K513* probably null Het
Serpinb10 T C 1: 107,460,117 (GRCm39) probably benign Het
Shc1 T C 3: 89,334,129 (GRCm39) V402A probably benign Het
Slc25a38 T A 9: 119,949,902 (GRCm39) L227Q probably benign Het
Slc6a13 A T 6: 121,313,798 (GRCm39) K514* probably null Het
Sorcs3 T C 19: 48,760,705 (GRCm39) V911A possibly damaging Het
Sptb A T 12: 76,657,651 (GRCm39) I1290N probably damaging Het
Sptbn1 T C 11: 30,089,292 (GRCm39) K657E possibly damaging Het
Stpg4 T A 17: 87,735,068 (GRCm39) probably null Het
Stx2 A G 5: 129,064,863 (GRCm39) V278A possibly damaging Het
Thoc1 A T 18: 9,992,902 (GRCm39) N558I probably benign Het
Trpm2 T C 10: 77,750,568 (GRCm39) T1343A probably benign Het
Usf3 T A 16: 44,040,939 (GRCm39) D1806E probably benign Het
Vmn2r106 C T 17: 20,488,037 (GRCm39) M787I possibly damaging Het
Wdfy4 A G 14: 32,873,566 (GRCm39) S248P Het
Zeb2 G T 2: 44,891,829 (GRCm39) probably null Het
Other mutations in Or12e13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Or12e13 APN 2 87,663,844 (GRCm39) missense probably damaging 1.00
IGL01893:Or12e13 APN 2 87,664,207 (GRCm39) nonsense probably null
IGL02247:Or12e13 APN 2 87,663,873 (GRCm39) missense probably damaging 0.97
IGL02286:Or12e13 APN 2 87,663,592 (GRCm39) missense probably damaging 0.99
IGL02645:Or12e13 APN 2 87,663,959 (GRCm39) missense probably benign 0.21
R1304:Or12e13 UTSW 2 87,664,049 (GRCm39) missense possibly damaging 0.51
R1762:Or12e13 UTSW 2 87,664,009 (GRCm39) missense probably damaging 0.98
R1770:Or12e13 UTSW 2 87,663,643 (GRCm39) missense probably benign 0.05
R4308:Or12e13 UTSW 2 87,663,614 (GRCm39) missense probably damaging 0.99
R4721:Or12e13 UTSW 2 87,663,515 (GRCm39) missense probably damaging 1.00
R6011:Or12e13 UTSW 2 87,664,259 (GRCm39) missense probably damaging 1.00
R6225:Or12e13 UTSW 2 87,663,661 (GRCm39) missense probably benign 0.04
R6243:Or12e13 UTSW 2 87,663,385 (GRCm39) start codon destroyed probably null 0.00
R6367:Or12e13 UTSW 2 87,663,937 (GRCm39) missense probably damaging 1.00
R7510:Or12e13 UTSW 2 87,663,872 (GRCm39) missense probably damaging 0.97
R7967:Or12e13 UTSW 2 87,663,863 (GRCm39) missense possibly damaging 0.76
R8003:Or12e13 UTSW 2 87,664,081 (GRCm39) missense probably benign 0.00
R8177:Or12e13 UTSW 2 87,663,512 (GRCm39) missense probably benign 0.07
R8986:Or12e13 UTSW 2 87,663,655 (GRCm39) missense possibly damaging 0.71
R9149:Or12e13 UTSW 2 87,663,523 (GRCm39) nonsense probably null
R9308:Or12e13 UTSW 2 87,663,523 (GRCm39) missense probably damaging 1.00
R9489:Or12e13 UTSW 2 87,663,478 (GRCm39) missense probably benign 0.04
R9605:Or12e13 UTSW 2 87,663,478 (GRCm39) missense probably benign 0.04
R9740:Or12e13 UTSW 2 87,663,895 (GRCm39) missense probably damaging 1.00
X0050:Or12e13 UTSW 2 87,663,878 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AATTCTCACGCTGGCTTGTG -3'
(R):5'- GTTCTAAGTGTACACATGGCCC -3'

Sequencing Primer
(F):5'- TCACGCTGGCTTGTGGAAAC -3'
(R):5'- AGTGCAGCAATCACTTCCTTG -3'
Posted On 2019-09-13