Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Tdo2'

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

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Trp_dioxygenase	7	353	1.4e-174	PFAM
low complexity region	374	387	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- GCAAACCGTTTAACCTGACTTCCCC -3'
(R):5'- GCTGCTTTGCCACCATCCAGATTAC -3'

Sequencing Primer
(F):5'- CCCAAGTTAGTCTTGATAGACAAGC -3'
(R):5'- TTACCAATTCCAAGTGGAGCTGG -3'

Posted On

2013-04-16