Incidental Mutation 'R2031:Tdo2'
ID221207
Institutional Source Beutler Lab
Gene Symbol Tdo2
Ensembl Gene ENSMUSG00000028011
Gene Nametryptophan 2,3-dioxygenase
Synonymschky, TO, TDO
MMRRC Submission 040038-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #R2031 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location81957090-81976202 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81969505 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 139 (D139V)
Ref Sequence ENSEMBL: ENSMUSP00000029645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029645] [ENSMUST00000193879]
Predicted Effect probably damaging
Transcript: ENSMUST00000029645
AA Change: D139V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
AA Change: D139V

DomainStartEndE-ValueType
Pfam:Trp_dioxygenase 26 372 8e-177 PFAM
low complexity region 393 406 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193879
AA Change: D120V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011
AA Change: D120V

DomainStartEndE-ValueType
Pfam:Trp_dioxygenase 7 353 1.4e-174 PFAM
low complexity region 374 387 N/A INTRINSIC
Meta Mutation Damage Score 0.494 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased plasma and brain levels of tryptophan, increased serotonin levels in the brain, decreased anxiety-related behavior, increased neuronal precursor proliferation and accelerated neurogenesis in the granule cell layer of the olfactory bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b G T 5: 121,501,055 N642K possibly damaging Het
Akap11 T A 14: 78,510,037 I1637L possibly damaging Het
Arhgap28 G T 17: 67,896,116 T114N probably damaging Het
Arid5b A G 10: 68,278,688 probably null Het
Atp10a T A 7: 58,827,930 C1292* probably null Het
Casp4 A G 9: 5,321,401 S51G probably benign Het
Cast T C 13: 74,798,652 probably null Het
Ccdc87 T C 19: 4,841,687 F736L probably damaging Het
Cdon T C 9: 35,504,074 S1203P probably damaging Het
Cep290 G A 10: 100,512,400 probably null Het
Cep85 A G 4: 134,132,450 V634A probably benign Het
Cpeb3 C T 19: 37,044,679 R589H probably damaging Het
Crebrf T G 17: 26,742,921 S331A probably damaging Het
Cul5 A G 9: 53,667,180 V36A probably benign Het
Dock2 T A 11: 34,727,470 probably benign Het
Doxl2 T C 6: 48,975,855 V238A probably damaging Het
Dstyk G A 1: 132,453,191 A475T probably damaging Het
Enpp6 C A 8: 47,053,614 P151Q probably damaging Het
Fan1 A G 7: 64,354,424 Y765H probably damaging Het
Hsfy2 A T 1: 56,636,317 S354T probably benign Het
Ifi204 A C 1: 173,752,777 F389C probably damaging Het
Ikbip T C 10: 91,096,612 Y373H probably benign Het
Kbtbd11 C A 8: 15,028,021 P207T possibly damaging Het
Krt73 A C 15: 101,798,764 probably benign Het
Mfsd6 T A 1: 52,708,854 Q284L probably benign Het
Mmp1b T A 9: 7,368,607 D415V possibly damaging Het
Mrc1 A T 2: 14,321,773 T1161S probably damaging Het
Ms4a18 A G 19: 11,013,650 S27P probably benign Het
Muc6 G A 7: 141,638,400 S2120F possibly damaging Het
Mycbp2 G T 14: 103,188,592 R2366S probably damaging Het
Nfkbia A G 12: 55,491,152 L172P probably damaging Het
Nrros C T 16: 32,144,157 W311* probably null Het
Olfr1212 A G 2: 88,959,299 T278A probably benign Het
Olfr1436 A T 19: 12,298,376 V252D probably damaging Het
Olfr1466 T C 19: 13,342,406 L216S probably benign Het
Olfr412 A G 11: 74,364,951 Y94C probably damaging Het
Olfr585 A G 7: 103,098,164 Y141C probably damaging Het
Olfr697 A G 7: 106,741,898 F12S probably damaging Het
Parvb A T 15: 84,282,835 Y117F probably benign Het
Plch2 A G 4: 155,043,027 probably benign Het
Plxnb2 A T 15: 89,162,810 C769* probably null Het
Plxnc1 G T 10: 94,943,667 D304E probably benign Het
Prkg2 T C 5: 99,024,451 D135G possibly damaging Het
Ptprb A G 10: 116,317,543 D635G probably benign Het
Rapgef6 T G 11: 54,552,858 V89G probably benign Het
Ror2 T A 13: 53,117,330 T330S probably benign Het
Ros1 A G 10: 52,067,068 V2050A possibly damaging Het
Serpinb6e T C 13: 33,837,750 probably benign Het
Skp2 C A 15: 9,113,698 G376C probably damaging Het
Smarca4 T C 9: 21,686,062 V1371A possibly damaging Het
Syvn1 G A 19: 6,050,530 R317H probably damaging Het
Tmem130 A G 5: 144,752,426 V135A possibly damaging Het
Tpr A T 1: 150,442,119 Q2126L probably benign Het
Txlnb A G 10: 17,830,314 M324V possibly damaging Het
Ubxn10 A G 4: 138,721,263 M34T possibly damaging Het
Vmn2r95 T C 17: 18,439,455 W154R possibly damaging Het
Other mutations in Tdo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Tdo2 APN 3 81958925 missense probably damaging 0.99
IGL02129:Tdo2 APN 3 81958925 missense probably damaging 0.99
IGL02271:Tdo2 APN 3 81963917 splice site probably benign
IGL02686:Tdo2 APN 3 81968155 missense probably benign 0.00
IGL02802:Tdo2 APN 3 81975697 intron probably benign
IGL03171:Tdo2 APN 3 81967029 missense probably benign
IGL03285:Tdo2 APN 3 81958789 unclassified probably null
R0052:Tdo2 UTSW 3 81967025 missense probably benign 0.37
R0052:Tdo2 UTSW 3 81967025 missense probably benign 0.37
R0335:Tdo2 UTSW 3 81964000 missense probably benign
R0720:Tdo2 UTSW 3 81962758 missense probably damaging 1.00
R1174:Tdo2 UTSW 3 81974376 missense probably damaging 1.00
R1175:Tdo2 UTSW 3 81974376 missense probably damaging 1.00
R1222:Tdo2 UTSW 3 81961468 unclassified probably null
R1418:Tdo2 UTSW 3 81961468 unclassified probably null
R1868:Tdo2 UTSW 3 81960546 missense probably benign 0.04
R1918:Tdo2 UTSW 3 81958940 missense probably damaging 1.00
R2513:Tdo2 UTSW 3 81969505 missense possibly damaging 0.91
R3615:Tdo2 UTSW 3 81975428 missense possibly damaging 0.68
R3616:Tdo2 UTSW 3 81975428 missense possibly damaging 0.68
R3872:Tdo2 UTSW 3 81968086 missense probably benign 0.08
R5260:Tdo2 UTSW 3 81975323 critical splice donor site probably null
R5547:Tdo2 UTSW 3 81958940 missense probably damaging 1.00
R6029:Tdo2 UTSW 3 81961440 missense probably damaging 1.00
R6089:Tdo2 UTSW 3 81962728 missense probably damaging 1.00
R6163:Tdo2 UTSW 3 81975403 missense possibly damaging 0.49
R6379:Tdo2 UTSW 3 81958795 unclassified probably benign
R7060:Tdo2 UTSW 3 81969559 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACAGAGACTGAAATTAGTTGATCCTC -3'
(R):5'- GCAGTATATTGTCACTCCCAATC -3'

Sequencing Primer
(F):5'- GTTCTGAATCTAAAAGTGAGTCACGG -3'
(R):5'- ATATTGTCACTCCCAATCTATTCTGC -3'
Posted On2014-08-25