Incidental Mutation 'R6294:Or12d12'
ID 508643
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 044406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6294 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 37610337-37611375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37610444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 290 (T290S)
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: T290S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000061042
Gene: ENSMUSG00000092077
AA Change: T290S

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: T290S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000215392
AA Change: T290S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 99% (71/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,631,440 (GRCm39) H579L probably benign Het
Aldh2 G A 5: 121,710,879 (GRCm39) Q8* probably null Het
Ankdd1a G T 9: 65,427,446 (GRCm39) H10Q probably benign Het
Arpp21 A G 9: 111,956,520 (GRCm39) F453L probably damaging Het
Birc6 C A 17: 74,996,252 (GRCm39) D4461E probably benign Het
Cacna1b A T 2: 24,609,069 (GRCm39) S411T possibly damaging Het
Camk2g A G 14: 20,815,017 (GRCm39) I203T probably damaging Het
Cat A T 2: 103,290,640 (GRCm39) C425S probably benign Het
Ccdc34 A G 2: 109,848,496 (GRCm39) D95G probably benign Het
Clca4b T C 3: 144,630,946 (GRCm39) S305G probably null Het
Cul7 T C 17: 46,974,074 (GRCm39) I1453T probably benign Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dync2h1 T G 9: 7,084,986 (GRCm39) K561T probably benign Het
Erbin T C 13: 103,993,564 (GRCm39) T359A probably benign Het
Far2 T A 6: 148,058,980 (GRCm39) L222Q probably damaging Het
Fbxw17 A G 13: 50,577,839 (GRCm39) E114G probably benign Het
Fryl A T 5: 73,349,102 (GRCm39) probably benign Het
Ggn A G 7: 28,873,273 (GRCm39) D666G possibly damaging Het
Hal G A 10: 93,350,005 (GRCm39) probably null Het
Htt A G 5: 34,979,170 (GRCm39) D851G probably benign Het
Ighv14-2 A T 12: 113,958,218 (GRCm39) D74E probably benign Het
Igkv5-43 G A 6: 69,800,426 (GRCm39) S87L probably damaging Het
Klhl29 A T 12: 5,133,995 (GRCm39) F720I probably damaging Het
Klk1b8 T A 7: 43,602,196 (GRCm39) Y43N probably damaging Het
Krtap20-1 T A 16: 88,880,989 (GRCm39) Y7N unknown Het
Lama4 T A 10: 38,951,466 (GRCm39) F1070L probably damaging Het
Map4 A G 9: 109,831,814 (GRCm39) E98G possibly damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mki67 A G 7: 135,306,319 (GRCm39) M581T probably benign Het
Mtss2 T A 8: 111,453,960 (GRCm39) N43K possibly damaging Het
Mylk3 T A 8: 86,077,012 (GRCm39) I475F probably damaging Het
Nat14 C T 7: 4,927,073 (GRCm39) R82* probably null Het
Nckap1 T C 2: 80,371,858 (GRCm39) N324S probably benign Het
Nemp1 C T 10: 127,530,391 (GRCm39) T281M possibly damaging Het
Nrg3 A T 14: 38,119,196 (GRCm39) H425Q probably benign Het
Omd T A 13: 49,743,467 (GRCm39) N172K probably damaging Het
Or10c1 T C 17: 37,522,517 (GRCm39) T76A probably benign Het
Or4f62 A G 2: 111,986,364 (GRCm39) I23V probably benign Het
Or52a33 A G 7: 103,288,798 (GRCm39) M183T probably damaging Het
Or52r1c A T 7: 102,734,874 (GRCm39) I45F probably benign Het
Or5b123 T C 19: 13,596,730 (GRCm39) V25A probably benign Het
Orc1 T C 4: 108,447,867 (GRCm39) I38T probably benign Het
Oxct1 A G 15: 4,172,304 (GRCm39) T457A possibly damaging Het
Pcdh17 A T 14: 84,715,108 (GRCm39) K924N probably benign Het
Pkhd1l1 A T 15: 44,433,424 (GRCm39) I3435F probably damaging Het
Psg20 C A 7: 18,416,604 (GRCm39) V171F probably damaging Het
Rab11fip2 A T 19: 59,925,531 (GRCm39) S87T probably damaging Het
Rabgap1l T C 1: 160,059,419 (GRCm39) T237A probably benign Het
Rasgrp1 A T 2: 117,122,273 (GRCm39) Y372* probably null Het
Rell1 G T 5: 64,097,048 (GRCm39) probably benign Het
Rps14 A G 18: 60,910,033 (GRCm39) K61E possibly damaging Het
Rtl6 A G 15: 84,441,321 (GRCm39) V25A possibly damaging Het
Ryr2 G T 13: 11,894,382 (GRCm39) S185R probably damaging Het
Slc10a2 C T 8: 5,141,621 (GRCm39) probably null Het
Slc14a1 T A 18: 78,153,273 (GRCm39) probably null Het
Smad2 A T 18: 76,422,233 (GRCm39) N215I probably benign Het
Smchd1 A T 17: 71,677,922 (GRCm39) N1473K probably benign Het
Spag9 A G 11: 93,984,311 (GRCm39) probably null Het
Stk31 A C 6: 49,394,278 (GRCm39) R213S probably benign Het
Tmod4 A T 3: 95,035,617 (GRCm39) Q255L probably benign Het
Tnpo1 T A 13: 99,027,282 (GRCm39) Y3F probably benign Het
Tom1l1 A C 11: 90,552,587 (GRCm39) Y206* probably null Het
Tulp2 A G 7: 45,164,116 (GRCm39) K36E probably damaging Het
Tulp4 C T 17: 6,252,094 (GRCm39) R282C probably damaging Het
Unc5b A T 10: 60,614,110 (GRCm39) N246K possibly damaging Het
Ush2a C G 1: 188,268,567 (GRCm39) S1674R possibly damaging Het
Vmn1r224 T C 17: 20,640,083 (GRCm39) I220T probably benign Het
Vmn1r7 G C 6: 57,001,404 (GRCm39) N285K probably benign Het
Vmn2r83 C T 10: 79,313,688 (GRCm39) P99S probably damaging Het
Zbtb38 A G 9: 96,569,282 (GRCm39) F601L probably benign Het
Zc3h3 A T 15: 75,681,417 (GRCm39) S555T possibly damaging 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
R3872:Or12d12 UTSW 17 37,610,870 (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
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'- GCCACAAATTAAGCTTCCTTTGC -3'
(R):5'- ACAAAGCTCTGTCTACCTGTG -3'

Sequencing Primer
(F):5'- TGCCTGGTTATTTGCACT -3'
(R):5'- ACCTGTGCCTCCCACTTCATG -3'
Posted On 2018-03-15