Mutagenetix > Incidental Mutation

Incidental Mutation 'R6823:Tph2'

537749

Institutional Source

Beutler Lab

Gene Symbol

Tph2

Ensembl Gene

ENSMUSG00000006764

Gene Name

tryptophan hydroxylase 2

Synonyms

MMRRC Submission

044935-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114914546-115020927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115010011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 183 (N183I)

Ref Sequence

ENSEMBL: ENSMUSP00000006949 (fasta)

Gene Model

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

AlphaFold

Q8CGV2

Predicted Effect

probably benign
Transcript: ENSMUST00000006949
AA Change: N183I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000006949
Gene: ENSMUSG00000006764
AA Change: N183I

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,626,735 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,705,200 (GRCm39)	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,501,231 (GRCm39)	S384G	probably benign	Het
Anxa8	A	T	14: 33,816,722 (GRCm39)	D204V	possibly damaging	Het
Asap3	A	T	4: 135,954,883 (GRCm39)	E71V	possibly damaging	Het
BC024139	T	C	15: 76,003,946 (GRCm39)	*773W	probably null	Het
Bckdhb	T	C	9: 83,835,814 (GRCm39)	V106A	possibly damaging	Het
Cep250	A	G	2: 155,823,379 (GRCm39)	D1010G	probably benign	Het
Chrd	T	A	16: 20,553,486 (GRCm39)	L243Q	probably damaging	Het
Cib2	G	T	9: 54,457,175 (GRCm39)	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,510,248 (GRCm39)	L113*	probably null	Het
Cubn	T	A	2: 13,449,840 (GRCm39)	I895L	probably benign	Het
Cyp24a1	C	A	2: 170,329,899 (GRCm39)	R351I	probably benign	Het
Cyp2a12	A	T	7: 26,733,581 (GRCm39)	D320V	possibly damaging	Het
Dact1	C	G	12: 71,364,713 (GRCm39)	P498R	probably benign	Het
Diaph1	T	A	18: 38,009,436 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,495,863 (GRCm39)	I3198N	probably benign	Het
Dop1b	A	T	16: 93,552,373 (GRCm39)	I271F	possibly damaging	Het
Elp1	A	G	4: 56,787,939 (GRCm39)	Y331H	probably damaging	Het
Erich3	C	A	3: 154,433,074 (GRCm39)	F349L	probably damaging	Het
Fam187b	G	C	7: 30,688,715 (GRCm39)	V358L	probably benign	Het
Fat4	T	A	3: 39,038,088 (GRCm39)	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,865,934 (GRCm39)	E118D	probably benign	Het
Fgf1	A	G	18: 38,980,161 (GRCm39)	I71T	probably damaging	Het
Fryl	A	T	5: 73,222,560 (GRCm39)	I2007K	probably damaging	Het
Galnt2	C	G	8: 125,050,750 (GRCm39)	P130A	probably benign	Het
H1f10	G	A	6: 87,958,284 (GRCm39)	R19C	probably damaging	Het
Hmga2	A	C	10: 120,311,929 (GRCm39)	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,209,480 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,802,814 (GRCm39)	I756F	probably damaging	Het
Hspa1b	A	T	17: 35,177,161 (GRCm39)	S275T	probably benign	Het
Kcnh1	T	C	1: 192,187,597 (GRCm39)	*99R	probably null	Het
Kit	C	A	5: 75,813,309 (GRCm39)	L864I	probably benign	Het
Klk14	A	T	7: 43,343,880 (GRCm39)	K196*	probably null	Het
Lmod1	A	G	1: 135,252,905 (GRCm39)	N53S	probably damaging	Het
Myh13	T	C	11: 67,246,984 (GRCm39)	M1235T	probably benign	Het
Neurl3	T	A	1: 36,307,785 (GRCm39)	K175*	probably null	Het
Nlgn2	T	A	11: 69,716,750 (GRCm39)	K597M	probably damaging	Het
Npdc1	T	C	2: 25,299,121 (GRCm39)	M306T	probably damaging	Het
Obscn	C	T	11: 58,958,769 (GRCm39)		probably null	Het
Or1p1b	T	C	11: 74,130,522 (GRCm39)	L44P	probably damaging	Het
Or52m2	G	A	7: 102,263,693 (GRCm39)	L168F	probably damaging	Het
Or8b49	T	C	9: 38,506,201 (GRCm39)	I228T	possibly damaging	Het
Pbrm1	A	T	14: 30,806,747 (GRCm39)	Y1042F	probably damaging	Het
Pclo	T	A	5: 14,727,921 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Phf12	C	T	11: 77,913,337 (GRCm39)	Q430*	probably null	Het
Plaat5	A	T	19: 7,616,861 (GRCm39)		probably benign	Het
Pld3	C	T	7: 27,235,322 (GRCm39)	R302H	probably damaging	Het
Plekha5	T	C	6: 140,471,584 (GRCm39)	S112P	probably benign	Het
Pmfbp1	T	A	8: 110,256,939 (GRCm39)	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,503,382 (GRCm39)	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078 (GRCm38)		probably benign	Het
Psmg2	A	T	18: 67,781,927 (GRCm39)	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824 (GRCm38)	R155G	probably damaging	Het
Rnf215	T	C	11: 4,086,609 (GRCm39)	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtkn2	G	A	10: 67,862,462 (GRCm39)	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,218,814 (GRCm39)	I472F	probably benign	Het
Snx14	T	C	9: 88,276,435 (GRCm39)	N617D	possibly damaging	Het
Spire2	T	C	8: 124,083,466 (GRCm39)	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,064,787 (GRCm39)	R1904M	probably damaging	Het
Swap70	A	G	7: 109,880,510 (GRCm39)	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,896,087 (GRCm39)	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,709,872 (GRCm39)	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,297,780 (GRCm39)	S207T	probably damaging	Het
Timm44	A	G	8: 4,317,282 (GRCm39)	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,633,849 (GRCm39)	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,788,035 (GRCm39)	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,412,513 (GRCm39)	L28I	probably benign	Het
Ttyh1	T	C	7: 4,125,528 (GRCm39)	I60T	probably damaging	Het
Ubn1	T	G	16: 4,882,411 (GRCm39)	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,842 (GRCm39)	N2019S	probably benign	Het
Wbp2	T	C	11: 115,977,736 (GRCm39)	N6D	probably benign	Het
Wdr59	T	A	8: 112,185,672 (GRCm39)	E810V	possibly damaging	Het
Wiz	T	C	17: 32,579,395 (GRCm39)	D220G	probably damaging	Het
Yipf7	A	G	5: 69,674,413 (GRCm39)	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,790,972 (GRCm39)	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,644,472 (GRCm39)		probably benign	Het
Zfp707	C	T	15: 75,841,572 (GRCm39)		probably benign	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	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
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
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'- CCGCAGAGCTCATGATTTCAG -3'
(R):5'- GCACAATTCTGATTTTGCCTGTGTC -3'

Sequencing Primer
(F):5'- CGCAGAGCTCATGATTTCAGATGTC -3'
(R):5'- GTCCTCCAGTCGGTCATCTGAG -3'

Posted On

2018-10-18