Incidental Mutation 'R3616:Tdo2'
ID 268387
Institutional Source Beutler Lab
Gene Symbol Tdo2
Ensembl Gene ENSMUSG00000028011
Gene Name tryptophan 2,3-dioxygenase
Synonyms chky, TO, TDO
MMRRC Submission 040673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R3616 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 81865719-81883035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81882735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 13 (Y13H)
Ref Sequence ENSEMBL: ENSMUSP00000029645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029645] [ENSMUST00000193879]
AlphaFold P48776
Predicted Effect possibly damaging
Transcript: ENSMUST00000029645
AA Change: Y13H

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
AA Change: Y13H

Pfam:Trp_dioxygenase 26 372 8e-177 PFAM
low complexity region 393 406 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193879
SMART Domains Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011

Pfam:Trp_dioxygenase 7 353 1.4e-174 PFAM
low complexity region 374 387 N/A INTRINSIC
Meta Mutation Damage Score 0.0624 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (29/29)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,257 (GRCm39) T818A probably benign Het
Aasdh A G 5: 77,036,629 (GRCm39) V304A probably benign Het
Angptl3 G A 4: 98,922,702 (GRCm39) A248T probably benign Het
Ap2b1 T A 11: 83,215,391 (GRCm39) C112S possibly damaging Het
Aqr A T 2: 113,967,368 (GRCm39) I549N probably damaging Het
Barhl1 C T 2: 28,801,562 (GRCm39) D161N possibly damaging Het
Col28a1 A G 6: 8,014,942 (GRCm39) V821A probably damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dnah1 A G 14: 31,037,105 (GRCm39) L247P possibly damaging Het
Dpysl2 T A 14: 67,071,819 (GRCm39) H107L probably damaging Het
Dzip3 A G 16: 48,757,426 (GRCm39) L869S probably damaging Het
Efs T C 14: 55,157,552 (GRCm39) Y160C probably damaging Het
Enam A T 5: 88,652,306 (GRCm39) N1197Y possibly damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam184b A G 5: 45,740,157 (GRCm39) V343A possibly damaging Het
Fbxw26 A T 9: 109,572,828 (GRCm39) Y105* probably null Het
Fiz1 A G 7: 5,011,171 (GRCm39) L449P probably benign Het
Foxi2 T A 7: 135,012,180 (GRCm39) C23S possibly damaging Het
Gdf2 G A 14: 33,666,914 (GRCm39) R212Q probably damaging Het
Gm5105 C A 3: 137,755,449 (GRCm39) A46S unknown Het
Grik5 C T 7: 24,721,996 (GRCm39) A581T probably benign Het
Gse1 C G 8: 121,299,481 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Kif1b A T 4: 149,346,740 (GRCm39) probably benign Het
Krt25 A C 11: 99,208,124 (GRCm39) V368G possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Lamc1 T C 1: 153,126,896 (GRCm39) K417E probably damaging Het
Miip A G 4: 147,950,371 (GRCm39) M75T probably benign Het
Nlrp10 A G 7: 108,523,683 (GRCm39) F599S probably benign Het
Nlrp12 T A 7: 3,289,205 (GRCm39) M436L probably benign Het
Or4b13 T C 2: 90,082,753 (GRCm39) E193G possibly damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Pard6b T C 2: 167,929,259 (GRCm39) probably benign Het
Pla2g2e G A 4: 138,607,685 (GRCm39) V22I probably benign Het
Plekhd1 A G 12: 80,764,044 (GRCm39) E202G probably damaging Het
Prss21 A G 17: 24,091,805 (GRCm39) T258A probably benign Het
Prss34 A G 17: 25,517,820 (GRCm39) E65G probably benign Het
Psap A G 10: 60,130,383 (GRCm39) N149S probably benign Het
Ptprf C T 4: 118,095,080 (GRCm39) A275T probably benign Het
Sem1 A G 6: 6,578,520 (GRCm39) L12P probably damaging Het
Sf3b3 A G 8: 111,571,155 (GRCm39) Y4H probably damaging Het
Sh3bp4 G T 1: 89,065,427 (GRCm39) R7L probably damaging Het
Slc16a1 T A 3: 104,560,886 (GRCm39) L397Q probably damaging Het
Smg5 A G 3: 88,243,758 (GRCm39) S10G possibly damaging Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Spata31e5 T C 1: 28,815,656 (GRCm39) D792G probably benign Het
Spata31g1 A G 4: 42,971,864 (GRCm39) N399S probably benign Het
Tas2r102 C T 6: 132,739,781 (GRCm39) Q230* probably null Het
Tmem231 C T 8: 112,644,945 (GRCm39) R187H possibly damaging Het
Tmem30b A G 12: 73,592,353 (GRCm39) M254T probably damaging Het
Trpm1 G A 7: 63,893,318 (GRCm39) G1057R probably damaging Het
Tusc3 A T 8: 39,617,879 (GRCm39) K347N probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Vash2 T C 1: 190,702,616 (GRCm39) Y117C probably damaging Het
Vrk2 A G 11: 26,439,866 (GRCm39) I235T possibly damaging Het
Wdr20 A G 12: 110,760,373 (GRCm39) T420A probably benign Het
Other mutations in Tdo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Tdo2 APN 3 81,866,232 (GRCm39) missense probably damaging 0.99
IGL02129:Tdo2 APN 3 81,866,232 (GRCm39) missense probably damaging 0.99
IGL02271:Tdo2 APN 3 81,871,224 (GRCm39) splice site probably benign
IGL02686:Tdo2 APN 3 81,875,462 (GRCm39) missense probably benign 0.00
IGL02802:Tdo2 APN 3 81,883,004 (GRCm39) intron probably benign
IGL03171:Tdo2 APN 3 81,874,336 (GRCm39) missense probably benign
IGL03285:Tdo2 APN 3 81,866,096 (GRCm39) splice site probably null
R0052:Tdo2 UTSW 3 81,874,332 (GRCm39) missense probably benign 0.37
R0052:Tdo2 UTSW 3 81,874,332 (GRCm39) missense probably benign 0.37
R0335:Tdo2 UTSW 3 81,871,307 (GRCm39) missense probably benign
R0720:Tdo2 UTSW 3 81,870,065 (GRCm39) missense probably damaging 1.00
R1174:Tdo2 UTSW 3 81,881,683 (GRCm39) missense probably damaging 1.00
R1175:Tdo2 UTSW 3 81,881,683 (GRCm39) missense probably damaging 1.00
R1222:Tdo2 UTSW 3 81,868,775 (GRCm39) splice site probably null
R1418:Tdo2 UTSW 3 81,868,775 (GRCm39) splice site probably null
R1868:Tdo2 UTSW 3 81,867,853 (GRCm39) missense probably benign 0.04
R1918:Tdo2 UTSW 3 81,866,247 (GRCm39) missense probably damaging 1.00
R2031:Tdo2 UTSW 3 81,876,812 (GRCm39) missense probably damaging 1.00
R2513:Tdo2 UTSW 3 81,876,812 (GRCm39) missense possibly damaging 0.91
R3615:Tdo2 UTSW 3 81,882,735 (GRCm39) missense possibly damaging 0.68
R3872:Tdo2 UTSW 3 81,875,393 (GRCm39) missense probably benign 0.08
R5260:Tdo2 UTSW 3 81,882,630 (GRCm39) critical splice donor site probably null
R5547:Tdo2 UTSW 3 81,866,247 (GRCm39) missense probably damaging 1.00
R6029:Tdo2 UTSW 3 81,868,747 (GRCm39) missense probably damaging 1.00
R6089:Tdo2 UTSW 3 81,870,035 (GRCm39) missense probably damaging 1.00
R6163:Tdo2 UTSW 3 81,882,710 (GRCm39) missense possibly damaging 0.49
R6379:Tdo2 UTSW 3 81,866,102 (GRCm39) unclassified probably benign
R7060:Tdo2 UTSW 3 81,876,866 (GRCm39) missense probably damaging 1.00
R7544:Tdo2 UTSW 3 81,878,942 (GRCm39) critical splice donor site probably null
R7585:Tdo2 UTSW 3 81,870,065 (GRCm39) missense probably damaging 1.00
R7724:Tdo2 UTSW 3 81,875,390 (GRCm39) critical splice donor site probably null
R8942:Tdo2 UTSW 3 81,876,851 (GRCm39) missense probably benign 0.22
R9276:Tdo2 UTSW 3 81,876,885 (GRCm39) missense probably benign
R9612:Tdo2 UTSW 3 81,879,001 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-02-19