Incidental Mutation 'R5488:Or12d2'
ID 430489
Institutional Source Beutler Lab
Gene Symbol Or12d2
Ensembl Gene ENSMUSG00000091531
Gene Name olfactory receptor family 12 subfamily D member 2
Synonyms Olfr102, MOR250-4, GA_x6K02T2PSCP-1775063-1774137
MMRRC Submission 043049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5488 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37624302-37625328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37624559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 239 (T239A)
Ref Sequence ENSEMBL: ENSMUSP00000149168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169373] [ENSMUST00000217590]
AlphaFold B2RT33
Predicted Effect probably damaging
Transcript: ENSMUST00000169373
AA Change: T239A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: T239A

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.6e-52 PFAM
Pfam:7tm_1 39 289 8.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217590
AA Change: T239A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 97% (58/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,851,473 (GRCm39) V817D probably damaging Het
Abca5 A G 11: 110,183,009 (GRCm39) V1016A probably benign Het
Ano2 G T 6: 126,016,216 (GRCm39) M916I possibly damaging Het
Aqr T C 2: 113,963,554 (GRCm39) N632S probably damaging Het
Cd48 G A 1: 171,523,273 (GRCm39) V39I possibly damaging Het
Cdcp3 A G 7: 130,848,324 (GRCm39) D710G probably damaging Het
Cdk17 A G 10: 93,068,274 (GRCm39) T344A probably damaging Het
Chd8 A T 14: 52,450,505 (GRCm39) probably benign Het
Col4a1 A T 8: 11,362,550 (GRCm39) probably benign Het
Col9a3 G A 2: 180,258,318 (GRCm39) R579H probably damaging Het
Cripto G A 9: 110,772,265 (GRCm39) R44C probably benign Het
Cyp2c69 T G 19: 39,839,603 (GRCm39) Q340P probably null Het
D630003M21Rik T A 2: 158,058,941 (GRCm39) T320S probably benign Het
D630045J12Rik A T 6: 38,173,782 (GRCm39) S129T possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fam13a A T 6: 59,001,303 (GRCm39) L8Q probably null Het
Fam83b T C 9: 76,452,881 (GRCm39) N62S probably benign Het
Foxred1 A T 9: 35,121,266 (GRCm39) V94E probably damaging Het
Gprc5a T C 6: 135,055,868 (GRCm39) V105A probably damaging Het
Gvin3 T A 7: 106,200,797 (GRCm39) noncoding transcript Het
Itga2 A T 13: 114,979,971 (GRCm39) W1077R probably damaging Het
Kat6b A G 14: 21,719,332 (GRCm39) D1228G probably damaging Het
Kctd3 A G 1: 188,713,563 (GRCm39) Y391H probably damaging Het
Kdelr2 T A 5: 143,389,784 (GRCm39) I23N probably damaging Het
Kmt2a A T 9: 44,752,335 (GRCm39) probably benign Het
Lao1 A G 4: 118,824,566 (GRCm39) E216G probably damaging Het
Mark4 G T 7: 19,163,532 (GRCm39) probably null Het
Mcm10 A G 2: 4,996,929 (GRCm39) W851R probably damaging Het
Mettl21e T C 1: 44,257,276 (GRCm39) Y14C probably benign Het
Miga1 CACAACAACAACAACAACA CACAACAACAACAACA 3: 152,039,083 (GRCm39) probably benign Het
Mmp20 A G 9: 7,643,958 (GRCm39) probably null Het
Nlrp5 A T 7: 23,117,359 (GRCm39) D361V probably benign Het
Nrip3 T C 7: 109,361,045 (GRCm39) T210A probably damaging Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Pcdh10 G A 3: 45,335,803 (GRCm39) G706S probably damaging Het
Pdzd2 G A 15: 12,382,762 (GRCm39) P1197L probably benign Het
Pfkfb3 T C 2: 11,489,480 (GRCm39) S273G probably benign Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Rab40c G A 17: 26,109,643 (GRCm39) T78I probably damaging Het
Rec8 A T 14: 55,860,283 (GRCm39) Q291L probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sart3 A G 5: 113,909,441 (GRCm39) W86R probably damaging Het
Slc6a11 A G 6: 114,220,855 (GRCm39) D462G probably damaging Het
Syne2 A G 12: 75,934,946 (GRCm39) T143A probably benign Het
Tardbp A G 4: 148,703,097 (GRCm39) F289S probably benign Het
Tdpoz1 T A 3: 93,577,974 (GRCm39) Y270F possibly damaging Het
Tmem117 ACCC ACC 15: 94,992,698 (GRCm39) probably null Het
Trim43a A T 9: 88,464,229 (GRCm39) I47F probably damaging Het
Vim A T 2: 13,580,392 (GRCm39) T202S probably benign Het
Vps13b A T 15: 35,770,688 (GRCm39) I2044L probably benign Het
Wdr5 T G 2: 27,415,165 (GRCm39) D192E probably damaging Het
Zmym2 A G 14: 57,193,712 (GRCm39) K1176E possibly damaging Het
Other mutations in Or12d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Or12d2 APN 17 37,624,598 (GRCm39) missense possibly damaging 0.90
IGL01947:Or12d2 APN 17 37,624,556 (GRCm39) missense probably damaging 1.00
IGL02164:Or12d2 APN 17 37,624,578 (GRCm39) missense probably benign 0.01
IGL02465:Or12d2 APN 17 37,624,802 (GRCm39) missense probably damaging 0.99
IGL03095:Or12d2 APN 17 37,624,664 (GRCm39) missense probably benign 0.01
R0712:Or12d2 UTSW 17 37,624,975 (GRCm39) missense probably damaging 0.96
R1572:Or12d2 UTSW 17 37,624,371 (GRCm39) missense probably benign
R1749:Or12d2 UTSW 17 37,624,952 (GRCm39) missense probably benign 0.05
R3083:Or12d2 UTSW 17 37,625,086 (GRCm39) missense probably damaging 1.00
R4022:Or12d2 UTSW 17 37,625,165 (GRCm39) missense probably benign
R5203:Or12d2 UTSW 17 37,625,092 (GRCm39) missense probably damaging 1.00
R5367:Or12d2 UTSW 17 37,625,147 (GRCm39) missense probably damaging 1.00
R5387:Or12d2 UTSW 17 37,625,183 (GRCm39) missense probably benign 0.22
R6804:Or12d2 UTSW 17 37,625,021 (GRCm39) missense probably damaging 1.00
R7442:Or12d2 UTSW 17 37,624,816 (GRCm39) missense possibly damaging 0.89
R7473:Or12d2 UTSW 17 37,624,522 (GRCm39) missense probably benign 0.03
R8110:Or12d2 UTSW 17 37,624,604 (GRCm39) missense probably benign 0.00
R8887:Or12d2 UTSW 17 37,624,642 (GRCm39) missense probably damaging 1.00
R9400:Or12d2 UTSW 17 37,624,554 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCCTGGTTATTTACACCAAAGC -3'
(R):5'- TTGGATCTGGCCTGTGGAAAC -3'

Sequencing Primer
(F):5'- GATTTCTTCAAATCAGAGCCATCTTC -3'
(R):5'- TGGAAACACTGAGCTCAACCTTTG -3'
Posted On 2016-10-05