Incidental Mutation 'R5387:Or12d2'
ID 425373
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 042959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 37624302-37625328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37625183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 31 (T31S)
Ref Sequence ENSEMBL: ENSMUSP00000149168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169373] [ENSMUST00000217590]
AlphaFold B2RT33
Predicted Effect probably benign
Transcript: ENSMUST00000169373
AA Change: T31S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: T31S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.6e-52 PFAM
Pfam:7tm_1 39 289 8.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217590
AA Change: T31S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,408,092 (GRCm39) S140T probably benign Het
Ahnak T C 19: 8,981,055 (GRCm39) S780P probably damaging Het
Ankhd1 C A 18: 36,767,697 (GRCm39) H1205N probably damaging Het
Ano1 T C 7: 144,202,356 (GRCm39) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm39) C114W probably damaging Het
Ascl1 C T 10: 87,328,551 (GRCm39) A134T probably damaging Het
Atl2 C T 17: 80,160,229 (GRCm39) E453K probably benign Het
Aup1 C T 6: 83,032,005 (GRCm39) A84V probably damaging Het
Btbd7 A T 12: 102,804,044 (GRCm39) M332K probably damaging Het
Cacna1d A G 14: 29,822,708 (GRCm39) V1107A probably damaging Het
Cd33 G A 7: 43,181,477 (GRCm39) Q114* probably null Het
Cdhr18 C A 14: 13,914,438 (GRCm38) M1I probably null Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Defb22 C A 2: 152,327,826 (GRCm39) A120S unknown Het
Dnah7b A G 1: 46,227,819 (GRCm39) I1347M probably damaging Het
Efcab5 A G 11: 77,025,668 (GRCm39) I549T possibly damaging Het
Esp15 T A 17: 39,955,468 (GRCm39) probably null Het
Fbxo7 A G 10: 85,860,518 (GRCm39) T42A probably benign Het
Filip1 A G 9: 79,725,556 (GRCm39) I1021T probably benign Het
Gad1 C A 2: 70,394,195 (GRCm39) S7* probably null Het
H2ac7 T A 13: 23,758,841 (GRCm39) probably null Het
H2-Q7 C T 17: 35,658,518 (GRCm39) T52M probably damaging Het
H2-T3 C T 17: 36,497,594 (GRCm39) G28R probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift81 A G 5: 122,693,598 (GRCm39) Y604H probably damaging Het
Igsf11 A G 16: 38,842,785 (GRCm39) Y154C probably damaging Het
Kif26b G T 1: 178,742,441 (GRCm39) A846S probably benign Het
Lnx2 G A 5: 146,964,964 (GRCm39) P420S probably benign Het
Lrit2 A G 14: 36,794,216 (GRCm39) T427A probably damaging Het
Lrrc43 G T 5: 123,637,734 (GRCm39) probably null Het
Mettl25b A T 3: 87,837,318 (GRCm39) probably benign Het
Mug1 T C 6: 121,861,353 (GRCm39) Y1325H probably damaging Het
Naglu A T 11: 100,967,550 (GRCm39) Y500F probably damaging Het
Npy4r A G 14: 33,868,940 (GRCm39) M116T probably benign Het
Nrdc A G 4: 108,896,959 (GRCm39) Y526C probably damaging Het
Nrp2 T C 1: 62,801,972 (GRCm39) S472P probably benign Het
Or12k8 T C 2: 36,975,731 (GRCm39) T10A possibly damaging Het
Otogl T A 10: 107,616,794 (GRCm39) T1828S probably benign Het
Pank2 C T 2: 131,116,182 (GRCm39) T200I probably benign Het
Pbrm1 A G 14: 30,804,567 (GRCm39) Y946C probably damaging Het
Pde12 A T 14: 26,387,608 (GRCm39) S437T probably benign Het
Pikfyve A G 1: 65,304,427 (GRCm39) K1710E possibly damaging Het
Plcd3 A G 11: 102,969,281 (GRCm39) S229P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkaa2 C A 4: 104,897,374 (GRCm39) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,321,303 (GRCm39) S620P probably damaging Het
Rab33b A G 3: 51,400,876 (GRCm39) T117A probably damaging Het
Rasal2 T C 1: 156,985,335 (GRCm39) D804G possibly damaging Het
Rbp3 A G 14: 33,678,370 (GRCm39) T773A possibly damaging Het
Rspry1 A G 8: 95,364,914 (GRCm39) T185A possibly damaging Het
Sec61a2 G T 2: 5,887,356 (GRCm39) probably benign Het
Setx C T 2: 29,037,606 (GRCm39) R1364C probably benign Het
Shtn1 G T 19: 59,026,801 (GRCm39) L97M probably damaging Het
Slc35f1 T C 10: 52,984,260 (GRCm39) L340P probably damaging Het
Slc45a1 T A 4: 150,728,366 (GRCm39) probably benign Het
Slmap T C 14: 26,181,088 (GRCm39) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm39) A924V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Tecta G A 9: 42,286,359 (GRCm39) L766F probably damaging Het
Tle3 C T 9: 61,314,771 (GRCm39) probably null Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Trappc2b A T 11: 51,576,801 (GRCm39) D32E probably benign Het
Trem1 T C 17: 48,548,541 (GRCm39) I26T possibly damaging Het
Ttc7b G T 12: 100,413,222 (GRCm39) Q199K possibly damaging Het
Ubap2l T C 3: 89,913,903 (GRCm39) Y975C probably benign Het
Ubxn11 C A 4: 133,850,737 (GRCm39) D196E probably damaging Het
Unc80 A G 1: 66,569,180 (GRCm39) H945R possibly damaging Het
Usp15 A G 10: 122,967,191 (GRCm39) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm39) E138K probably damaging Het
Wapl A G 14: 34,399,252 (GRCm39) E107G probably benign Het
Wbp1l T C 19: 46,632,896 (GRCm39) probably null Het
Zfp184 T G 13: 22,133,810 (GRCm39) probably benign Het
Zfp36 A C 7: 28,077,293 (GRCm39) L205R 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
R5488:Or12d2 UTSW 17 37,624,559 (GRCm39) missense probably damaging 1.00
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'- ATGCATCCCAAGAAGGAAATTGC -3'
(R):5'- TGTTTGATCACAACCCACAGC -3'

Sequencing Primer
(F):5'- CCCAAGAAGGAAATTGCTTTGC -3'
(R):5'- CCCACAGCAGACATGTATTTAAC -3'
Posted On 2016-08-04