Incidental Mutation 'R0335:Tdo2'
ID 26162
Institutional Source Beutler Lab
Gene Symbol Tdo2
Ensembl Gene ENSMUSG00000028011
Gene Name tryptophan 2,3-dioxygenase
Synonyms chky, TO, TDO
MMRRC Submission 038544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R0335 (G1)
Quality Score 204
Status Validated
Chromosome 3
Chromosomal Location 81957090-81976202 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81964000 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 235 (M235L)
Ref Sequence ENSEMBL: ENSMUSP00000141237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029645] [ENSMUST00000193879]
AlphaFold P48776
Predicted Effect probably benign
Transcript: ENSMUST00000029645
AA Change: M254L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029645
Gene: ENSMUSG00000028011
AA Change: M254L

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: M235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141237
Gene: ENSMUSG00000028011
AA Change: M235L

Pfam:Trp_dioxygenase 7 353 1.4e-174 PFAM
low complexity region 374 387 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.6%
  • 20x: 87.5%
Validation Efficiency 100% (89/89)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G T 15: 11,311,058 (GRCm38) D1134Y possibly damaging Het
Add3 A G 19: 53,236,828 (GRCm38) T460A probably benign Het
Amer3 A C 1: 34,579,300 (GRCm38) probably benign Het
Arhgap22 C T 14: 33,359,108 (GRCm38) probably benign Het
Arhgap32 T G 9: 32,259,760 (GRCm38) S1279A probably benign Het
Bcas1 G A 2: 170,418,681 (GRCm38) T26M probably damaging Het
Begain A T 12: 109,038,934 (GRCm38) F256I probably damaging Het
Bltp1 T C 3: 36,969,152 (GRCm38) V2210A probably damaging Het
Cabin1 A T 10: 75,657,049 (GRCm38) I1804N probably damaging Het
Cad G A 5: 31,073,985 (GRCm38) probably benign Het
Carmil1 G A 13: 24,073,983 (GRCm38) S762L probably damaging Het
Ccdc93 T A 1: 121,492,977 (GRCm38) L529Q probably damaging Het
Cdh12 T A 15: 21,578,549 (GRCm38) probably null Het
Cep15 A G 14: 12,301,266 (GRCm38) E124G possibly damaging Het
Clip2 T A 5: 134,535,215 (GRCm38) probably benign Het
Cmip T C 8: 117,445,366 (GRCm38) I480T probably damaging Het
Cnot1 A T 8: 95,772,000 (GRCm38) I203K probably benign Het
Col18a1 G A 10: 77,059,363 (GRCm38) P1155S probably damaging Het
Col1a2 T A 6: 4,531,956 (GRCm38) probably benign Het
Crybg3 A T 16: 59,544,140 (GRCm38) L2373Q probably damaging Het
D130043K22Rik A T 13: 24,887,877 (GRCm38) I935F probably damaging Het
Dapl1 T A 2: 59,496,594 (GRCm38) D61E possibly damaging Het
Def6 A G 17: 28,228,069 (GRCm38) D558G possibly damaging Het
Dnah6 T C 6: 73,069,399 (GRCm38) probably benign Het
Dvl2 G A 11: 70,001,035 (GRCm38) probably benign Het
Ecd A C 14: 20,320,734 (GRCm38) V639G probably benign Het
Epg5 C T 18: 77,986,472 (GRCm38) T1350M probably benign Het
Erbb4 C A 1: 68,259,259 (GRCm38) M657I probably benign Het
Evi5 T C 5: 107,812,411 (GRCm38) R431G probably benign Het
Fbxo11 G A 17: 88,015,613 (GRCm38) A115V possibly damaging Het
Fgfr2 T C 7: 130,196,249 (GRCm38) T192A probably benign Het
Gas7 C T 11: 67,662,052 (GRCm38) A146V possibly damaging Het
Gatad2b T A 3: 90,356,182 (GRCm38) S529T probably benign Het
Gm10722 G T 9: 3,001,048 (GRCm38) Q41H probably null Het
Gm10801 G C 2: 98,664,007 (GRCm38) R143T possibly damaging Het
Gm7535 A G 17: 17,911,112 (GRCm38) probably benign Het
Gstm1 T A 3: 108,012,696 (GRCm38) N193I possibly damaging Het
Heatr5b G A 17: 78,827,946 (GRCm38) P252L probably benign Het
Hmgb1 A G 5: 149,050,631 (GRCm38) V36A probably benign Het
Hrh1 G T 6: 114,480,232 (GRCm38) W158L probably damaging Het
Ighv6-4 T C 12: 114,406,674 (GRCm38) M53V probably benign Het
Iqgap2 T A 13: 95,635,633 (GRCm38) D1346V probably damaging Het
Kcng3 A T 17: 83,587,737 (GRCm38) N433K possibly damaging Het
Kif1a T A 1: 93,052,566 (GRCm38) probably benign Het
Lctl C A 9: 64,118,887 (GRCm38) Q75K probably benign Het
Ldb3 T A 14: 34,578,651 (GRCm38) I89F possibly damaging Het
Lrrc49 A T 9: 60,677,095 (GRCm38) L156Q probably damaging Het
Mark2 G T 19: 7,281,828 (GRCm38) T83K probably benign Het
Ms4a15 A T 19: 10,980,210 (GRCm38) D170E probably damaging Het
Msantd2 A G 9: 37,522,760 (GRCm38) S99G possibly damaging Het
Nemf G T 12: 69,353,803 (GRCm38) T124N probably benign Het
Nlrp9c A T 7: 26,394,136 (GRCm38) F35I possibly damaging Het
Nwd2 A G 5: 63,804,773 (GRCm38) I567V probably benign Het
Optn C T 2: 5,024,115 (GRCm38) G526R probably damaging Het
Or11l3 T C 11: 58,625,740 (GRCm38) Y102C probably damaging Het
Or13p8 A G 4: 118,727,170 (GRCm38) I308V probably null Het
Or5v1b A C 17: 37,530,642 (GRCm38) I222L probably benign Het
Or7g16 T A 9: 18,815,994 (GRCm38) Q100L probably damaging Het
Pdk4 T C 6: 5,491,138 (GRCm38) E209G probably benign Het
Plch1 T C 3: 63,710,978 (GRCm38) Q712R probably damaging Het
Pnpla1 T A 17: 28,886,878 (GRCm38) V569E possibly damaging Het
Prkar2a A T 9: 108,719,258 (GRCm38) D134V probably damaging Het
Ptov1 T A 7: 44,864,622 (GRCm38) Q40L possibly damaging Het
Ptprq T C 10: 107,708,728 (GRCm38) I314V probably benign Het
Rabl2 T C 15: 89,583,966 (GRCm38) K66E probably damaging Het
Rnf38 A G 4: 44,152,507 (GRCm38) V19A possibly damaging Het
Scn2a T A 2: 65,682,091 (GRCm38) W191R probably damaging Het
Sec22b T A 3: 97,921,256 (GRCm38) F212I possibly damaging Het
Sec24c T A 14: 20,688,715 (GRCm38) probably null Het
Septin2 T C 1: 93,495,599 (GRCm38) S51P probably damaging Het
Serpinb1a T C 13: 32,848,656 (GRCm38) N90S probably damaging Het
Slc1a2 C T 2: 102,743,863 (GRCm38) T206I probably benign Het
Slc25a19 C A 11: 115,624,206 (GRCm38) R42L probably damaging Het
St14 G A 9: 31,091,324 (GRCm38) probably benign Het
Stxbp1 C T 2: 32,802,905 (GRCm38) probably benign Het
Tas2r131 C T 6: 132,957,829 (GRCm38) V6I probably benign Het
Tenm3 T G 8: 48,232,105 (GRCm38) H2432P probably damaging Het
Tmprss15 C T 16: 79,024,742 (GRCm38) probably benign Het
Tmx1 A G 12: 70,453,256 (GRCm38) N30D probably benign Het
Tom1 A G 8: 75,064,392 (GRCm38) probably null Het
Top2a T C 11: 99,022,955 (GRCm38) N20S probably benign Het
Ttc23l T A 15: 10,539,963 (GRCm38) T145S probably benign Het
Unc13b T A 4: 43,236,983 (GRCm38) M3351K possibly damaging Het
Vmn1r47 T C 6: 90,022,659 (GRCm38) S258P probably damaging Het
Vmn2r8 T G 5: 108,797,451 (GRCm38) probably null Het
Vps11 T C 9: 44,353,838 (GRCm38) Q641R probably null Het
Wapl T A 14: 34,692,324 (GRCm38) I381N probably damaging Het
Zmym6 G A 4: 127,122,808 (GRCm38) G794E probably damaging Het
Other mutations in Tdo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Tdo2 APN 3 81,958,925 (GRCm38) missense probably damaging 0.99
IGL02129:Tdo2 APN 3 81,958,925 (GRCm38) missense probably damaging 0.99
IGL02271:Tdo2 APN 3 81,963,917 (GRCm38) splice site probably benign
IGL02686:Tdo2 APN 3 81,968,155 (GRCm38) missense probably benign 0.00
IGL02802:Tdo2 APN 3 81,975,697 (GRCm38) intron probably benign
IGL03171:Tdo2 APN 3 81,967,029 (GRCm38) missense probably benign
IGL03285:Tdo2 APN 3 81,958,789 (GRCm38) splice site probably null
R0052:Tdo2 UTSW 3 81,967,025 (GRCm38) missense probably benign 0.37
R0052:Tdo2 UTSW 3 81,967,025 (GRCm38) missense probably benign 0.37
R0720:Tdo2 UTSW 3 81,962,758 (GRCm38) missense probably damaging 1.00
R1174:Tdo2 UTSW 3 81,974,376 (GRCm38) missense probably damaging 1.00
R1175:Tdo2 UTSW 3 81,974,376 (GRCm38) missense probably damaging 1.00
R1222:Tdo2 UTSW 3 81,961,468 (GRCm38) splice site probably null
R1418:Tdo2 UTSW 3 81,961,468 (GRCm38) splice site probably null
R1868:Tdo2 UTSW 3 81,960,546 (GRCm38) missense probably benign 0.04
R1918:Tdo2 UTSW 3 81,958,940 (GRCm38) missense probably damaging 1.00
R2031:Tdo2 UTSW 3 81,969,505 (GRCm38) missense probably damaging 1.00
R2513:Tdo2 UTSW 3 81,969,505 (GRCm38) missense possibly damaging 0.91
R3615:Tdo2 UTSW 3 81,975,428 (GRCm38) missense possibly damaging 0.68
R3616:Tdo2 UTSW 3 81,975,428 (GRCm38) missense possibly damaging 0.68
R3872:Tdo2 UTSW 3 81,968,086 (GRCm38) missense probably benign 0.08
R5260:Tdo2 UTSW 3 81,975,323 (GRCm38) critical splice donor site probably null
R5547:Tdo2 UTSW 3 81,958,940 (GRCm38) missense probably damaging 1.00
R6029:Tdo2 UTSW 3 81,961,440 (GRCm38) missense probably damaging 1.00
R6089:Tdo2 UTSW 3 81,962,728 (GRCm38) missense probably damaging 1.00
R6163:Tdo2 UTSW 3 81,975,403 (GRCm38) missense possibly damaging 0.49
R6379:Tdo2 UTSW 3 81,958,795 (GRCm38) unclassified probably benign
R7060:Tdo2 UTSW 3 81,969,559 (GRCm38) missense probably damaging 1.00
R7544:Tdo2 UTSW 3 81,971,635 (GRCm38) critical splice donor site probably null
R7585:Tdo2 UTSW 3 81,962,758 (GRCm38) missense probably damaging 1.00
R7724:Tdo2 UTSW 3 81,968,083 (GRCm38) critical splice donor site probably null
R8942:Tdo2 UTSW 3 81,969,544 (GRCm38) missense probably benign 0.22
R9276:Tdo2 UTSW 3 81,969,578 (GRCm38) missense probably benign
R9612:Tdo2 UTSW 3 81,971,694 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-04-16