Mutagenetix > Incidental Mutation

Incidental Mutation 'R3777:Tph2'

271856

Institutional Source

Beutler Lab

Gene Symbol

Tph2

Ensembl Gene

ENSMUSG00000006764

Gene Name

tryptophan hydroxylase 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R3777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114914546-115020927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114915910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 421 (D421G)

Ref Sequence

ENSEMBL: ENSMUSP00000006949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006949]

AlphaFold

Q8CGV2

Predicted Effect

probably benign
Transcript: ENSMUST00000006949
AA Change: D421G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006949
Gene: ENSMUSG00000006764
AA Change: D421G

Domain	Start	End	E-Value	Type
low complexity region	94	102	N/A	INTRINSIC
Pfam:Biopterin_H	150	480	3.6e-177	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mutations in this locus result in abnormal serotonin levels in the brain. Whether an increase or decrease in serotonin levels is seen depends on the specific nucleotide substitution/point mutation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dsg1b	G	A	18: 20,532,644 (GRCm39)	V563I	probably damaging	Het
Elovl4	ACT	A	9: 83,667,201 (GRCm39)		probably null	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fam171b	T	A	2: 83,708,605 (GRCm39)	I369K	probably benign	Het
Fmn1	A	G	2: 113,195,467 (GRCm39)	E389G	unknown	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm5819	A	G	18: 8,694,429 (GRCm39)	E118G	probably damaging	Het
Grip1	G	A	10: 119,821,535 (GRCm39)		probably null	Het
Heatr1	C	A	13: 12,428,229 (GRCm39)	L789I	possibly damaging	Het
Hsd17b1	T	C	11: 100,969,529 (GRCm39)	S59P	probably damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Larp4	T	A	15: 99,888,238 (GRCm39)	W92R	probably damaging	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mfsd4b2	A	G	10: 39,797,527 (GRCm39)	I276T	possibly damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Myl12a	G	T	17: 71,301,631 (GRCm39)	H165Q	possibly damaging	Het
Myo18b	T	A	5: 112,905,462 (GRCm39)	E2045D	probably damaging	Het
Mypn	T	C	10: 62,983,761 (GRCm39)	T496A	possibly damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Or13c3	A	T	4: 52,855,636 (GRCm39)	N292K	probably damaging	Het
Or2d4	A	T	7: 106,543,519 (GRCm39)	S230T	probably benign	Het
Or4b13	T	C	2: 90,082,969 (GRCm39)	Y121C	probably damaging	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Or8g33	A	T	9: 39,337,901 (GRCm39)	S155R	possibly damaging	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Pik3cg	A	C	12: 32,244,708 (GRCm39)	C915W	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Rapgef1	C	T	2: 29,609,701 (GRCm39)	H675Y	possibly damaging	Het
Rpn2	T	A	2: 157,141,477 (GRCm39)	V263D	probably damaging	Het
Rps13	A	G	7: 115,933,160 (GRCm39)	L16P	probably damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Semp2l2b	T	C	10: 21,942,861 (GRCm39)	E373G	probably damaging	Het
Smarcc2	G	A	10: 128,318,812 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Spag9	G	A	11: 93,989,852 (GRCm39)		probably null	Het
Svil	A	G	18: 5,090,855 (GRCm39)	N915S	probably damaging	Het
Syt17	A	G	7: 118,033,180 (GRCm39)	L215P	probably damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Vdac3	T	C	8: 23,070,525 (GRCm39)	N128D	probably benign	Het
Vegfb	G	A	19: 6,964,767 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,717 (GRCm39)	N315K	probably damaging	Het

Other mutations in Tph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01469:Tph2	APN	10	114,915,664 (GRCm39)	nonsense	probably null
IGL01989:Tph2	APN	10	114,981,921 (GRCm39)	missense	probably benign	0.22
IGL02363:Tph2	APN	10	114,915,886 (GRCm39)	missense	probably benign	0.01
IGL02667:Tph2	APN	10	114,915,950 (GRCm39)	missense	probably benign	0.43
R0390:Tph2	UTSW	10	115,010,014 (GRCm39)	missense	probably damaging	1.00
R0400:Tph2	UTSW	10	114,916,025 (GRCm39)	splice site	probably benign
R0570:Tph2	UTSW	10	115,010,039 (GRCm39)	splice site	probably benign
R1466:Tph2	UTSW	10	114,915,600 (GRCm39)	missense	probably benign
R1466:Tph2	UTSW	10	114,915,600 (GRCm39)	missense	probably benign
R1654:Tph2	UTSW	10	115,020,712 (GRCm39)	missense	probably benign
R3705:Tph2	UTSW	10	114,955,798 (GRCm39)	nonsense	probably null
R3710:Tph2	UTSW	10	115,009,963 (GRCm39)	missense	probably benign	0.42
R4794:Tph2	UTSW	10	115,018,675 (GRCm39)	missense	possibly damaging	0.84
R5015:Tph2	UTSW	10	114,915,621 (GRCm39)	missense	probably benign	0.01
R5068:Tph2	UTSW	10	114,987,079 (GRCm39)	missense	probably benign	0.00
R5069:Tph2	UTSW	10	114,987,079 (GRCm39)	missense	probably benign	0.00
R5070:Tph2	UTSW	10	114,987,079 (GRCm39)	missense	probably benign	0.00
R5422:Tph2	UTSW	10	114,915,669 (GRCm39)	missense	possibly damaging	0.94
R5487:Tph2	UTSW	10	114,955,779 (GRCm39)	missense	probably damaging	1.00
R5604:Tph2	UTSW	10	114,926,614 (GRCm39)	missense	probably damaging	1.00
R5692:Tph2	UTSW	10	115,020,732 (GRCm39)	missense	probably damaging	0.97
R6368:Tph2	UTSW	10	115,015,231 (GRCm39)	missense	probably damaging	1.00
R6802:Tph2	UTSW	10	115,020,778 (GRCm39)	missense	probably damaging	1.00
R6823:Tph2	UTSW	10	115,010,011 (GRCm39)	missense	probably benign	0.02
R7371:Tph2	UTSW	10	114,987,016 (GRCm39)	missense	probably damaging	1.00
R7724:Tph2	UTSW	10	114,915,727 (GRCm39)	missense	probably benign
R7863:Tph2	UTSW	10	114,915,906 (GRCm39)	missense	probably damaging	1.00
R8046:Tph2	UTSW	10	115,015,499 (GRCm39)	missense	possibly damaging	0.62
R8738:Tph2	UTSW	10	115,015,614 (GRCm39)	splice site	probably benign
R9464:Tph2	UTSW	10	114,915,992 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGTGTAGGGGTTGAAGTATACC -3'
(R):5'- TGAGCTAGGAAGTTTGCCGC -3'

Sequencing Primer
(F):5'- ACGGGTAATTGACTTTGCAAAG -3'
(R):5'- GCCTTGGCACCTTGGAAG -3'

Posted On

2015-03-25