Mutagenetix > Incidental Mutation

Incidental Mutation 'R5422:Tph2'

426655

Institutional Source

Beutler Lab

Gene Symbol

Tph2

Ensembl Gene

ENSMUSG00000006764

Gene Name

tryptophan hydroxylase 2

Synonyms

MMRRC Submission

042846-MU

Accession Numbers

Essential gene?

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

Stock #

R5422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114914546-115020927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114915669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 457 (D457V)

Ref Sequence

ENSEMBL: ENSMUSP00000006949 (fasta)

Gene Model

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

AlphaFold

Q8CGV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006949
AA Change: D457V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006949
Gene: ENSMUSG00000006764
AA Change: D457V

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: 97.1%
20x: 94.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,425,606 (GRCm39)	S1219G	probably benign	Het
Adgrg5	T	A	8: 95,660,580 (GRCm39)	I73N	probably damaging	Het
Agmat	C	A	4: 141,483,144 (GRCm39)	H193N	probably damaging	Het
Ambn	T	C	5: 88,612,370 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,366,644 (GRCm39)	C803S	probably benign	Het
Btaf1	A	T	19: 36,928,507 (GRCm39)	R109S	probably benign	Het
Btnl6	C	T	17: 34,733,081 (GRCm39)	G261R	possibly damaging	Het
Clk3	A	G	9: 57,672,721 (GRCm39)	V27A	probably benign	Het
Clu	A	G	14: 66,213,051 (GRCm39)	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,338,528 (GRCm39)	F43L	probably benign	Het
Elf3	C	T	1: 135,182,778 (GRCm39)	E316K	probably damaging	Het
Epha5	A	T	5: 84,479,349 (GRCm39)	D218E	probably damaging	Het
Ereg	T	C	5: 91,222,666 (GRCm39)		probably null	Het
Ewsr1	A	G	11: 5,030,668 (GRCm39)		probably benign	Het
Fat4	A	G	3: 38,941,394 (GRCm39)	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,580,808 (GRCm39)	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,625,989 (GRCm39)		probably null	Het
Fn3k	C	A	11: 121,340,948 (GRCm39)	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,812,572 (GRCm39)	I2964V	probably benign	Het
Gbx1	C	T	5: 24,709,667 (GRCm39)	V393I	possibly damaging	Het
Gch1	C	T	14: 47,394,906 (GRCm39)	A187T	probably damaging	Het
Ghdc	C	A	11: 100,660,020 (GRCm39)	K242N	probably benign	Het
Ghrhr	A	G	6: 55,365,188 (GRCm39)	H394R	probably benign	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,442,208 (GRCm39)	S236R	probably benign	Het
Kcnj5	A	G	9: 32,229,001 (GRCm39)	Y66H	probably benign	Het
Kif15	T	A	9: 122,813,954 (GRCm39)		probably null	Het
Magi3	C	T	3: 103,958,684 (GRCm39)	C467Y	probably damaging	Het
Map7	G	T	10: 20,142,512 (GRCm39)	V303F	probably damaging	Het
Mapk11	A	G	15: 89,030,488 (GRCm39)	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,669,785 (GRCm39)		probably null	Het
Myh7b	A	C	2: 155,472,954 (GRCm39)	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,752,777 (GRCm39)	I328N	probably damaging	Het
Nprl2	C	A	9: 107,420,796 (GRCm39)	R144S	probably benign	Het
Ogfr	G	T	2: 180,237,067 (GRCm39)	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,237,068 (GRCm39)	D551V	probably benign	Het
Or6b13	A	T	7: 139,782,305 (GRCm39)	V126E	probably damaging	Het
Or8c10	A	T	9: 38,279,270 (GRCm39)	T143S	probably benign	Het
Parp14	T	C	16: 35,686,545 (GRCm39)	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,612,920 (GRCm39)	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,575,502 (GRCm39)	G303S	probably benign	Het
Plcl1	A	T	1: 55,736,543 (GRCm39)	Y628F	probably benign	Het
Ptpn9	T	A	9: 56,940,441 (GRCm39)	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,573,102 (GRCm39)	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,065,095 (GRCm39)	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,108,911 (GRCm39)	R218L	possibly damaging	Het
Scart1	A	T	7: 139,804,068 (GRCm39)	H422L	probably benign	Het
Serpine2	C	A	1: 79,794,592 (GRCm39)	V114L	probably benign	Het
Serpine2	T	C	1: 79,799,206 (GRCm39)	Y16C	probably benign	Het
Sgms1	G	T	19: 32,137,232 (GRCm39)	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,498,292 (GRCm39)	M1K	probably null	Het
Tcf12	A	T	9: 71,776,320 (GRCm39)	H403Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,512 (GRCm39)	I678T	probably damaging	Het
Thsd7b	T	C	1: 129,849,071 (GRCm39)	S928P	probably benign	Het
Tjp1	A	T	7: 64,952,715 (GRCm39)	F1540I	probably damaging	Het
Usp9y	T	C	Y: 1,314,676 (GRCm39)	I2112V	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp335	T	C	2: 164,749,650 (GRCm39)	K249R	probably damaging	Het
Zfp54	C	A	17: 21,654,788 (GRCm39)	S427R	probably benign	Het
Zfp607b	A	G	7: 27,401,813 (GRCm39)	T90A	probably benign	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
R3777:Tph2	UTSW	10	114,915,910 (GRCm39)	missense	probably benign
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
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'- GACACAGAAAGTTGTTGATGTTGG -3'
(R):5'- CGGACAGTTTTGAAGAAGCC -3'

Sequencing Primer
(F):5'- TGGATAACATTGACTGCATTGTTG -3'
(R):5'- GCAAAGTCAATTACCCGTC -3'

Posted On

2016-09-01