Mutagenetix > Incidental Mutation

Incidental Mutation 'R5015:Tph2'

385518

Institutional Source

Beutler Lab

Gene Symbol

Tph2

Ensembl Gene

ENSMUSG00000006764

Gene Name

tryptophan hydroxylase 2

Synonyms

MMRRC Submission

042606-MU

Accession Numbers

Essential gene?

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

Stock #

R5015 (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 114915621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 473 (N473S)

Ref Sequence

ENSEMBL: ENSMUSP00000006949 (fasta)

Gene Model

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

AlphaFold

Q8CGV2

Predicted Effect

probably benign
Transcript: ENSMUST00000006949
AA Change: N473S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000006949
Gene: ENSMUSG00000006764
AA Change: N473S

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: 98.3%
3x: 97.3%
10x: 95.2%
20x: 91.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,671 (GRCm39)	F312L	probably benign	Het
Adprm	A	G	11: 66,932,856 (GRCm39)	F18L	possibly damaging	Het
Ampd1	T	G	3: 103,006,981 (GRCm39)	N735K	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp1a4	T	C	1: 172,081,649 (GRCm39)	M168V	probably damaging	Het
Bcl6	G	A	16: 23,793,600 (GRCm39)	H116Y	probably damaging	Het
Bmpr2	T	A	1: 59,890,383 (GRCm39)	N338K	probably damaging	Het
Bms1	A	T	6: 118,381,224 (GRCm39)	Y697*	probably null	Het
Ccdc33	A	C	9: 58,025,918 (GRCm39)	F37C	probably damaging	Het
Ccdc60	T	A	5: 116,426,507 (GRCm39)	Q30L	probably benign	Het
Cndp1	C	A	18: 84,650,036 (GRCm39)	R219L	probably damaging	Het
Cstdc4	T	C	16: 36,006,837 (GRCm39)		probably null	Het
Daam2	C	A	17: 49,783,550 (GRCm39)	D627Y	probably damaging	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dnah2	T	G	11: 69,388,708 (GRCm39)	T892P	possibly damaging	Het
Dqx1	A	G	6: 83,043,092 (GRCm39)	T610A	probably benign	Het
Dspp	A	T	5: 104,324,926 (GRCm39)	I430L	possibly damaging	Het
Dytn	T	A	1: 63,672,854 (GRCm39)	K516N	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fmnl2	T	A	2: 52,993,773 (GRCm39)	N389K	possibly damaging	Het
Fn1	G	A	1: 71,665,336 (GRCm39)	T927I	probably damaging	Het
Foxn1	T	C	11: 78,261,989 (GRCm39)	K127E	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,608 (GRCm39)	F251S	probably damaging	Het
Frrs1	A	G	3: 116,672,088 (GRCm39)	D62G	probably damaging	Het
Fut10	T	A	8: 31,726,148 (GRCm39)	V301D	probably damaging	Het
Gk5	A	G	9: 96,059,470 (GRCm39)		probably null	Het
Glipr1l1	T	A	10: 111,914,279 (GRCm39)	N213K	probably benign	Het
Gm1110	A	G	9: 26,793,162 (GRCm39)	F538S	probably benign	Het
Gm7347	T	A	5: 26,262,366 (GRCm39)	T52S	probably benign	Het
Gsap	T	C	5: 21,427,406 (GRCm39)	I178T	probably damaging	Het
H1f9	C	A	11: 94,858,928 (GRCm39)	N74K	probably damaging	Het
Hcn1	A	T	13: 117,739,556 (GRCm39)	Q106L	unknown	Het
Isg20l2	G	T	3: 87,839,288 (GRCm39)	L166F	possibly damaging	Het
Kcnq3	T	A	15: 65,876,612 (GRCm39)	E510D	probably damaging	Het
Kif26b	G	T	1: 178,755,895 (GRCm39)	R2003L	probably damaging	Het
Kiss1r	T	C	10: 79,754,641 (GRCm39)	V45A	probably damaging	Het
Krt14	G	A	11: 100,098,032 (GRCm39)	R84*	probably null	Het
Mbd5	T	C	2: 49,148,208 (GRCm39)	M806T	possibly damaging	Het
Mdga1	A	T	17: 30,058,847 (GRCm39)	I13N	possibly damaging	Het
Mfsd4b5	T	C	10: 39,850,758 (GRCm39)	K73E	probably benign	Het
Mterf2	C	T	10: 84,955,596 (GRCm39)	G343R	probably benign	Het
Mto1	T	A	9: 78,368,903 (GRCm39)	F522I	probably benign	Het
Myo18b	T	C	5: 112,937,923 (GRCm39)	E1734G	probably damaging	Het
Myoz1	T	C	14: 20,703,787 (GRCm39)	T53A	probably benign	Het
Naxd	T	C	8: 11,563,032 (GRCm39)	L324P	probably damaging	Het
Nos1	T	A	5: 118,005,334 (GRCm39)	V18D	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Or10v5	T	C	19: 11,805,482 (GRCm39)	R303G	probably benign	Het
Or10z1	A	G	1: 174,078,448 (GRCm39)	L15S	possibly damaging	Het
Or1e29	C	G	11: 73,668,007 (GRCm39)	V49L	probably benign	Het
Or2j6	T	C	7: 139,980,083 (GRCm39)	D292G	probably damaging	Het
Or52b1	A	G	7: 104,978,811 (GRCm39)	V196A	possibly damaging	Het
Otof	T	A	5: 30,540,238 (GRCm39)	Y981F	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,670,597 (GRCm39)	K7E	probably damaging	Het
Pi4ka	A	G	16: 17,120,946 (GRCm39)	S73P	possibly damaging	Het
Plxnb1	T	A	9: 108,929,498 (GRCm39)	I118N	possibly damaging	Het
Prcc	T	C	3: 87,779,560 (GRCm39)	D158G	probably damaging	Het
Ptpn7	C	A	1: 135,066,877 (GRCm39)	R245S	possibly damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwp2	A	G	10: 78,018,527 (GRCm39)	C86R	probably benign	Het
Rfng	T	G	11: 120,673,876 (GRCm39)	D178A	probably damaging	Het
Rhpn1	T	C	15: 75,580,090 (GRCm39)	I51T	probably damaging	Het
Rnasel	G	T	1: 153,629,843 (GRCm39)	E120*	probably null	Het
Sall2	T	G	14: 52,553,112 (GRCm39)	S26R	possibly damaging	Het
Scn10a	A	G	9: 119,451,987 (GRCm39)	V1312A	possibly damaging	Het
Sdk2	C	A	11: 113,684,587 (GRCm39)	R1958L	probably damaging	Het
Septin4	C	T	11: 87,458,043 (GRCm39)	S139F	possibly damaging	Het
Slc52a2	T	A	15: 76,424,751 (GRCm39)	C330S	probably damaging	Het
Smarca2	T	A	19: 26,668,788 (GRCm39)	I987N	possibly damaging	Het
Srrt	A	T	5: 137,294,271 (GRCm39)	Y486N	probably damaging	Het
Stat5b	A	T	11: 100,695,831 (GRCm39)	N50K	possibly damaging	Het
Strip2	T	A	6: 29,931,265 (GRCm39)	D405E	probably benign	Het
Tcstv6	T	A	13: 120,298,474 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,924,739 (GRCm39)	D986E	probably damaging	Het
Tpp1	C	T	7: 105,401,232 (GRCm39)		probably benign	Het
Trpm3	T	C	19: 22,689,076 (GRCm39)	Y2H	probably damaging	Het
Ttc21a	A	T	9: 119,795,195 (GRCm39)	E1072V	probably damaging	Het
Zfat	T	C	15: 68,050,762 (GRCm39)	D753G	probably damaging	Het
Zmym2	T	A	14: 57,159,051 (GRCm39)	S609T	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
R3777:Tph2	UTSW	10	114,915,910 (GRCm39)	missense	probably benign
R4794:Tph2	UTSW	10	115,018,675 (GRCm39)	missense	possibly damaging	0.84
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'- ATGGACATACAGAATTGCATGC -3'
(R):5'- TCGGACAGTTTTGAAGAAGCC -3'

Sequencing Primer
(F):5'- GACATACAGAATTGCATGCTTACTAG -3'
(R):5'- TCGGTATACTTCAACCCC -3'

Posted On

2016-05-10