Incidental Mutation 'R3872:Or12d12'
ID 276642
Institutional Source Beutler Lab
Gene Symbol Or12d12
Ensembl Gene ENSMUSG00000092077
Gene Name olfactory receptor family 12 subfamily D member 12
Synonyms Olfr101, MOR250-2, GA_x6K02T2PSCP-1761617-1760691
MMRRC Submission 040790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R3872 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37610337-37611375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37610870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 148 (T148S)
Ref Sequence ENSEMBL: ENSMUSP00000149851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058046] [ENSMUST00000214376] [ENSMUST00000215392]
AlphaFold Q920Z0
Predicted Effect probably benign
Transcript: ENSMUST00000058046
AA Change: T148S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000061042
Gene: ENSMUSG00000092077
AA Change: T148S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 3.3e-53 PFAM
Pfam:7tm_1 39 289 3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214376
AA Change: T148S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000215392
AA Change: T148S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,045 (GRCm39) E1117G possibly damaging Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Bhmt-ps1 T C 4: 26,369,201 (GRCm39) noncoding transcript Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cic T C 7: 24,971,124 (GRCm39) V285A possibly damaging Het
Col19a1 A G 1: 24,614,408 (GRCm39) probably benign Het
Col6a4 T C 9: 105,890,858 (GRCm39) N1812S possibly damaging Het
Cry1 T C 10: 84,969,024 (GRCm39) probably null Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dlx5 G T 6: 6,878,209 (GRCm39) P274T probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnah5 A G 15: 28,411,656 (GRCm39) K3675R possibly damaging Het
Dpp6 A G 5: 27,926,056 (GRCm39) Y710C probably damaging Het
Dsc3 C A 18: 20,104,565 (GRCm39) K587N probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Epcam C A 17: 87,947,354 (GRCm39) T36K possibly damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
Eya4 A T 10: 23,031,870 (GRCm39) I251N probably damaging Het
Fbxo21 G A 5: 118,138,394 (GRCm39) V447I possibly damaging Het
Firrm A T 1: 163,814,533 (GRCm39) S137T probably damaging Het
Frg2f1 T A 4: 119,388,155 (GRCm39) T115S possibly damaging Het
Hecw2 A T 1: 53,871,916 (GRCm39) probably benign Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Iqca1 A T 1: 90,017,203 (GRCm39) Y411N probably damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Krt34 T C 11: 99,932,243 (GRCm39) H27R probably benign Het
Mia3 T C 1: 183,138,342 (GRCm39) E791G probably benign Het
Mroh2b A T 15: 4,954,543 (GRCm39) K669* probably null Het
Msmo1 C T 8: 65,175,497 (GRCm39) probably null Het
Muc6 T C 7: 141,226,867 (GRCm39) T1387A probably benign Het
Myo1g C T 11: 6,464,886 (GRCm39) V463I possibly damaging Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Pde10a C A 17: 8,975,923 (GRCm39) T16K possibly damaging Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Phb2 G A 6: 124,693,394 (GRCm39) probably null Het
Plin3 A G 17: 56,591,181 (GRCm39) S200P probably damaging Het
Plxna1 C A 6: 89,309,674 (GRCm39) E1087* probably null Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Sacs C T 14: 61,385,517 (GRCm39) T6M probably benign Het
Scfd1 A G 12: 51,438,979 (GRCm39) Y147C probably damaging Het
Septin1 T C 7: 126,814,447 (GRCm39) probably benign Het
Septin5 A G 16: 18,441,723 (GRCm39) L344P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc35f1 A G 10: 52,898,006 (GRCm39) D139G possibly damaging Het
Sod3 A G 5: 52,525,631 (GRCm39) Y110C probably damaging Het
Stk35 T C 2: 129,652,495 (GRCm39) V332A possibly damaging Het
Tacc2 C T 7: 130,224,152 (GRCm39) T279M probably benign Het
Tdo2 T C 3: 81,875,393 (GRCm39) E187G probably benign Het
Tmem150b A T 7: 4,727,360 (GRCm39) Y48* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r60 C T 7: 41,785,878 (GRCm39) S227L probably benign Het
Vps33a C T 5: 123,669,255 (GRCm39) V549I probably benign Het
Zfp788 T A 7: 41,298,868 (GRCm39) Y449* probably null Het
Other mutations in Or12d12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Or12d12 APN 17 37,610,629 (GRCm39) missense probably benign 0.00
IGL01584:Or12d12 APN 17 37,610,629 (GRCm39) missense probably benign 0.00
IGL01609:Or12d12 APN 17 37,610,629 (GRCm39) missense probably benign 0.00
IGL01739:Or12d12 APN 17 37,610,673 (GRCm39) missense probably benign 0.00
IGL03203:Or12d12 APN 17 37,611,317 (GRCm39) splice site probably benign
R1122:Or12d12 UTSW 17 37,611,019 (GRCm39) missense probably damaging 1.00
R1132:Or12d12 UTSW 17 37,610,423 (GRCm39) missense probably benign 0.19
R1237:Or12d12 UTSW 17 37,611,156 (GRCm39) missense probably benign 0.19
R3423:Or12d12 UTSW 17 37,610,761 (GRCm39) missense probably benign 0.00
R3873:Or12d12 UTSW 17 37,610,870 (GRCm39) missense probably benign 0.00
R3874:Or12d12 UTSW 17 37,610,870 (GRCm39) missense probably benign 0.00
R4871:Or12d12 UTSW 17 37,611,095 (GRCm39) missense probably benign 0.03
R5213:Or12d12 UTSW 17 37,610,942 (GRCm39) missense probably damaging 0.98
R5974:Or12d12 UTSW 17 37,611,229 (GRCm39) missense possibly damaging 0.65
R6294:Or12d12 UTSW 17 37,610,444 (GRCm39) missense probably benign 0.02
R8784:Or12d12 UTSW 17 37,610,701 (GRCm39) missense probably benign 0.34
R9469:Or12d12 UTSW 17 37,610,956 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGAGCATGCTGCAAGAAC -3'
(R):5'- CCTTCTTGGGATGCATAACTCAG -3'

Sequencing Primer
(F):5'- CATGCTGCAAGAACGGGTC -3'
(R):5'- GGGATGCATAACTCAGCTTCATTTC -3'
Posted On 2015-04-06