Incidental Mutation 'R0052:Tdo2'
Institutional Source Beutler Lab
Gene Symbol Tdo2
Ensembl Gene ENSMUSG00000028011
Gene Nametryptophan 2,3-dioxygenase
Synonymschky, TO, TDO
MMRRC Submission 038346-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #R0052 (G1)
Quality Score
Status Validated
Chromosomal Location81957090-81976202 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81967025 bp
Amino Acid Change Asparagine to Isoleucine at position 210 (N210I)
Ref Sequence ENSEMBL: ENSMUSP00000141237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029645] [ENSMUST00000193879]
Predicted Effect probably benign
Transcript: ENSMUST00000029645
AA Change: N229I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
AA Change: N229I

Pfam:Trp_dioxygenase 26 372 8e-177 PFAM
low complexity region 393 406 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151089
Predicted Effect probably benign
Transcript: ENSMUST00000193879
AA Change: N210I

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011
AA Change: N210I

Pfam:Trp_dioxygenase 7 353 1.4e-174 PFAM
low complexity region 374 387 N/A INTRINSIC
Meta Mutation Damage Score 0.172 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 78.2%
  • 10x: 46.7%
  • 20x: 12.5%
Validation Efficiency 90% (62/69)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,915,951 S438P possibly damaging Het
Atp2a1 A G 7: 126,457,897 probably benign Het
Bicd2 T A 13: 49,375,314 L184Q probably damaging Het
Bub1 G A 2: 127,809,039 T618I probably benign Het
Dsp A G 13: 38,197,364 D2096G possibly damaging Het
Eno4 A G 19: 58,968,553 D357G probably damaging Het
Fam214a A G 9: 75,018,983 probably benign Het
Fcrls A T 3: 87,256,778 I348N possibly damaging Het
Fgl2 A T 5: 21,375,349 S230C probably damaging Het
Ginm1 T A 10: 7,779,306 E57D possibly damaging Het
Itga9 T A 9: 118,636,549 I157N probably damaging Het
Kif21a T C 15: 90,970,857 E700G probably damaging Het
Mmd C T 11: 90,259,998 probably benign Het
Morn3 T C 5: 123,046,663 Y38C probably damaging Het
Prex2 T A 1: 11,160,156 L802Q probably damaging Het
Psd3 A G 8: 67,882,979 probably null Het
Ralgds T A 2: 28,544,388 probably null Het
Rmdn2 A G 17: 79,650,331 E16G probably damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc4a4 A C 5: 89,156,336 H502P possibly damaging Het
Slco3a1 A T 7: 74,504,326 I166N probably benign Het
Snx5 A T 2: 144,259,192 probably null Het
Srgap1 T C 10: 121,800,827 D741G possibly damaging Het
St8sia2 G T 7: 73,943,290 Y339* probably null Het
Thada A T 17: 84,455,158 N104K probably damaging Het
Timm8b A T 9: 50,605,030 D61V possibly damaging Het
Trbv12-1 T C 6: 41,113,916 F74S possibly damaging Het
Tshz1 G A 18: 84,014,945 T446I possibly damaging Het
Ubap2l T C 3: 90,038,928 N123S possibly damaging Het
Usp12 A G 5: 146,739,104 V336A possibly damaging Het
Xrn2 T A 2: 147,040,965 probably benign Het
Zfp14 G T 7: 30,038,328 Q411K probably 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
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
R2031:Tdo2 UTSW 3 81969505 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
Posted On2013-03-25