Incidental Mutation 'R6804:Or12d2'
ID 533503
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 044917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6804 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 37624302-37625328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37625021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 85 (S85P)
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: S85P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: S85P

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: S85P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,343,757 (GRCm39) Q480L probably benign Het
Arid4b T A 13: 14,303,792 (GRCm39) D72E probably benign Het
Avil C T 10: 126,844,175 (GRCm39) Q245* probably null Het
BC048679 T C 7: 81,146,612 (GRCm39) S2G possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1d T C 14: 29,773,622 (GRCm39) T1723A probably benign Het
Cfap91 T C 16: 38,152,604 (GRCm39) D202G probably damaging Het
Chil3 A T 3: 106,071,495 (GRCm39) Y56* probably null Het
Clec2i A G 6: 128,872,384 (GRCm39) E172G probably damaging Het
Crybg1 C T 10: 43,842,337 (GRCm39) D1785N probably damaging Het
Csmd1 G A 8: 16,087,260 (GRCm39) R1930W probably damaging Het
D430041D05Rik A C 2: 103,979,371 (GRCm39) S2019A possibly damaging Het
Ep300 T A 15: 81,525,512 (GRCm39) Y1445* probably null Het
Gne A G 4: 44,060,210 (GRCm39) I61T probably damaging Het
Ifit3b A T 19: 34,588,947 (GRCm39) Q41L possibly damaging Het
Kplce T C 3: 92,776,354 (GRCm39) T110A possibly damaging Het
Llgl2 A G 11: 115,734,141 (GRCm39) probably null Het
Mast3 T C 8: 71,239,376 (GRCm39) I417V probably benign Het
Mettl21e T A 1: 44,257,295 (GRCm39) I8F probably benign Het
Ms4a2 A G 19: 11,594,899 (GRCm39) Y183H probably damaging Het
Naip6 C G 13: 100,435,675 (GRCm39) E949D probably benign Het
Nbea T C 3: 55,994,874 (GRCm39) T181A probably benign Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Olfm3 A T 3: 114,916,328 (GRCm39) Y400F probably benign Het
Or1e33 A G 11: 73,738,240 (GRCm39) V237A probably benign Het
Or2a25 A T 6: 42,888,852 (GRCm39) T132S probably benign Het
Or2y1e A G 11: 49,218,808 (GRCm39) D190G probably benign Het
Pappa2 T C 1: 158,764,438 (GRCm39) S358G probably benign Het
Pde4dip C A 3: 97,700,564 (GRCm39) E259* probably null Het
Phlpp2 T A 8: 110,655,197 (GRCm39) L664Q probably damaging Het
Prpf8 A G 11: 75,390,635 (GRCm39) K1262R possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Saal1 GGCTTGCACGCCGT G 7: 46,349,064 (GRCm39) probably null Het
Sec31a C T 5: 100,530,671 (GRCm39) V701I probably benign Het
Smarca2 A T 19: 26,729,286 (GRCm39) R12S possibly damaging Het
Spocd1 T A 4: 129,847,423 (GRCm39) C537* probably null Het
Syt14 T C 1: 192,584,161 (GRCm39) E701G probably damaging Het
Taf3 T C 2: 9,923,028 (GRCm39) Y32C possibly damaging Het
Tfeb T C 17: 48,100,735 (GRCm39) probably null Het
Ttc13 C A 8: 125,426,426 (GRCm39) R168L probably damaging Het
Vmn2r11 T A 5: 109,201,350 (GRCm39) N385Y probably damaging Het
Vmn2r54 T C 7: 12,363,792 (GRCm39) K367R probably benign 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
R5488:Or12d2 UTSW 17 37,624,559 (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'- AAAGCCCAGGGTCCAGATAG -3'
(R):5'- CCTCCTGGGAGTAACAGATATACAAG -3'

Sequencing Primer
(F):5'- CCAGGGTCCAGATAGTAACAGTC -3'
(R):5'- AGAATTAAACCCTATTCTCTTTGTGG -3'
Posted On 2018-09-12