Mutagenetix > Incidental Mutation

Incidental Mutation 'R2102:Tph1'

230574

Institutional Source

Beutler Lab

Gene Symbol

Tph1

Ensembl Gene

ENSMUSG00000040046

Gene Name

tryptophan hydroxylase 1

Synonyms

MMRRC Submission

040106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46294065-46321961 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 46309834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049298] [ENSMUST00000107669] [ENSMUST00000168335] [ENSMUST00000170251]

AlphaFold

P17532

Predicted Effect

probably null
Transcript: ENSMUST00000049298

SMART Domains

Protein: ENSMUSP00000037752
Gene: ENSMUSG00000040046

Domain	Start	End	E-Value	Type
Pfam:ACT	21	87	4.3e-8	PFAM
Pfam:Biopterin_H	109	440	4.7e-188	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107669

SMART Domains

Protein: ENSMUSP00000103296
Gene: ENSMUSG00000040046

Domain	Start	End	E-Value	Type
Pfam:Biopterin_H	109	439	7.6e-176	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163468

Predicted Effect

probably damaging
Transcript: ENSMUST00000168335
AA Change: N139K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128107
Gene: ENSMUSG00000040046
AA Change: N139K

Domain	Start	End	E-Value	Type
Pfam:ACT	21	87	3.7e-9	PFAM
Pfam:Biopterin_H	109	149	1.8e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170045

Predicted Effect

probably benign
Transcript: ENSMUST00000170251

SMART Domains

Protein: ENSMUSP00000132489
Gene: ENSMUSG00000040046

Domain	Start	End	E-Value	Type
Pfam:ACT	21	87	6.7e-8	PFAM
Pfam:Biopterin_H	109	279	3e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172386

SMART Domains

Protein: ENSMUSP00000128727
Gene: ENSMUSG00000040046

Domain	Start	End	E-Value	Type
Pfam:ACT	17	82	6.9e-9	PFAM
Pfam:Biopterin_H	105	164	8.9e-24	PFAM
low complexity region	175	188	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase family. The encoded protein is one of two tryptophan hydroxylase enzymes that catalyze the first and rate limiting step in the biosynthesis of the hormone and neurotransmitter, serotonin. This gene is expressed in peripheral organs, while tryptophan hydroxylase 2 is expressed in neurons. The encoded protein is involved in the development of hypoxia-induced elevations in pulmonary pressures and pulmonary vascular remodeling, and has also been implicated as a regulator of immune tolerance. Disruption of this gene is associated with cardiac dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for one null allele display no gross behavioral abnormalities. Mice homozygous for a second null allele display fatigue, breathing difficulties, progressive pallor, and impaired cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,770,934 (GRCm39)	L41P	probably damaging	Het
Abca8a	G	T	11: 109,958,878 (GRCm39)	P749T	probably damaging	Het
Acad8	A	T	9: 26,896,861 (GRCm39)	Y199*	probably null	Het
Acot12	A	T	13: 91,908,096 (GRCm39)	I93L	probably benign	Het
Acsbg3	T	A	17: 57,191,949 (GRCm39)	Y542*	probably null	Het
Actn1	C	A	12: 80,230,291 (GRCm39)	R321L	probably benign	Het
Ap3s1	A	G	18: 46,887,469 (GRCm39)	E34G	possibly damaging	Het
Armh4	A	G	14: 50,011,459 (GRCm39)	Y83H	probably damaging	Het
Atp5f1a	T	C	18: 77,870,017 (GRCm39)	S533P	probably damaging	Het
Bcorl1	T	C	X: 47,458,081 (GRCm39)	V538A	probably benign	Het
Cdhr4	A	G	9: 107,875,206 (GRCm39)	T689A	probably damaging	Het
Cdk19	A	T	10: 40,355,726 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,928,554 (GRCm39)	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,421,585 (GRCm39)	S456P	probably benign	Het
Cst11	T	C	2: 148,613,160 (GRCm39)	Y55C	probably damaging	Het
Ctif	T	G	18: 75,654,452 (GRCm39)	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,500,974 (GRCm39)	E386A	probably benign	Het
Dcxr	A	G	11: 120,617,133 (GRCm39)	F104L	probably benign	Het
Dmbt1	G	T	7: 130,703,762 (GRCm39)	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,466,830 (GRCm39)	I567F	probably damaging	Het
Ednrb	T	A	14: 104,058,350 (GRCm39)	R318*	probably null	Het
Exd2	T	C	12: 80,527,377 (GRCm39)	I36T	possibly damaging	Het
Fam83b	A	T	9: 76,399,987 (GRCm39)	I372N	probably damaging	Het
Fbh1	A	G	2: 11,763,100 (GRCm39)	V518A	probably benign	Het
Fkbp5	T	C	17: 28,625,162 (GRCm39)	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,838,282 (GRCm39)	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,043,585 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,831 (GRCm39)	R223Q	probably damaging	Het
Gm14496	G	A	2: 181,633,127 (GRCm39)	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,532,274 (GRCm39)	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,660,566 (GRCm39)	N292S	probably damaging	Het
Ints1	C	T	5: 139,741,754 (GRCm39)	V1826M	possibly damaging	Het
Itgb4	A	G	11: 115,896,561 (GRCm39)	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,963,200 (GRCm39)	D1552G	probably damaging	Het
Kel	G	A	6: 41,663,418 (GRCm39)	T702I	possibly damaging	Het
Klf3	T	C	5: 64,979,266 (GRCm39)	V36A	probably damaging	Het
Klhl23	A	T	2: 69,659,228 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	T	7: 139,510,674 (GRCm39)	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,505,606 (GRCm39)		probably benign	Het
Krtap9-5	T	A	11: 99,840,270 (GRCm39)	C324S	unknown	Het
Lepr	T	C	4: 101,630,178 (GRCm39)	V631A	possibly damaging	Het
Lifr	T	C	15: 7,216,404 (GRCm39)	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,561,731 (GRCm39)	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,810,255 (GRCm39)		probably benign	Het
Mmp12	G	A	9: 7,349,802 (GRCm39)	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,038,634 (GRCm39)	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,282,949 (GRCm39)	T246A	possibly damaging	Het
Myo7b	A	T	18: 32,133,031 (GRCm39)	F439L	probably damaging	Het
Myom1	A	T	17: 71,408,024 (GRCm39)	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,623,471 (GRCm39)	F1004S	probably benign	Het
Palld	A	T	8: 61,986,467 (GRCm39)	M788K	possibly damaging	Het
Pappa	T	A	4: 65,234,465 (GRCm39)	Y1423*	probably null	Het
Pfkm	A	G	15: 98,027,171 (GRCm39)	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,808,208 (GRCm39)	D105E	probably damaging	Het
Plekha5	G	A	6: 140,518,603 (GRCm39)	A297T	probably damaging	Het
Plxnb1	T	A	9: 108,944,810 (GRCm39)	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,162,949 (GRCm39)	T524A	probably damaging	Het
Psg26	T	C	7: 18,209,067 (GRCm39)	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,014,586 (GRCm39)	D1225G	probably benign	Het
Rep15	A	G	6: 146,934,403 (GRCm39)		probably null	Het
Rgl2	G	A	17: 34,152,314 (GRCm39)		probably null	Het
Rpl7a	T	G	2: 26,801,473 (GRCm39)	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,250,108 (GRCm39)	I158F	probably benign	Het
Scaper	A	T	9: 55,819,334 (GRCm39)	V127E	probably benign	Het
Sele	T	A	1: 163,881,395 (GRCm39)	C501S	probably damaging	Het
Serpina11	C	T	12: 103,949,104 (GRCm39)	V358I	probably benign	Het
Slc16a4	A	G	3: 107,211,819 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,055,656 (GRCm39)	I82V	probably benign	Het
Smarca5	T	C	8: 81,431,304 (GRCm39)	E971G	probably damaging	Het
Smr2	T	C	5: 88,256,595 (GRCm39)	L91P	probably damaging	Het
Spata31f3	T	A	4: 42,868,558 (GRCm39)	H355L	probably benign	Het
Spopfm2	A	T	3: 94,082,973 (GRCm39)	C279*	probably null	Het
Srrm2	A	G	17: 24,036,722 (GRCm39)		probably benign	Het
Sting1	A	T	18: 35,868,290 (GRCm39)	M270K	probably damaging	Het
Syne1	A	G	10: 5,006,514 (GRCm39)	W7980R	probably damaging	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tmem171	A	T	13: 98,828,851 (GRCm39)	F100I	probably damaging	Het
Tnfrsf10b	A	G	14: 70,013,546 (GRCm39)	T159A	probably benign	Het
Trim46	A	T	3: 89,142,504 (GRCm39)	I638N	probably damaging	Het
Ubl7	G	A	9: 57,827,825 (GRCm39)	D171N	probably damaging	Het
Utp20	A	G	10: 88,608,779 (GRCm39)	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,129,334 (GRCm39)	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,897,505 (GRCm39)	V148E	probably damaging	Het
Zbed3	A	G	13: 95,472,615 (GRCm39)	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,484,962 (GRCm39)	L99Q	probably benign	Het

Other mutations in Tph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Tph1	APN	7	46,306,294 (GRCm39)	missense	probably benign	0.02
IGL01318:Tph1	APN	7	46,314,662 (GRCm39)	missense	probably damaging	0.99
IGL01538:Tph1	APN	7	46,303,177 (GRCm39)	missense	probably damaging	1.00
IGL01564:Tph1	APN	7	46,300,305 (GRCm39)	splice site	probably benign
IGL02021:Tph1	APN	7	46,306,421 (GRCm39)	missense	possibly damaging	0.55
IGL02202:Tph1	APN	7	46,303,185 (GRCm39)	missense	probably benign	0.40
IGL03072:Tph1	APN	7	46,302,283 (GRCm39)	missense	probably damaging	0.99
I1329:Tph1	UTSW	7	46,299,437 (GRCm39)	missense	probably damaging	0.99
R0166:Tph1	UTSW	7	46,297,020 (GRCm39)	missense	probably damaging	1.00
R0433:Tph1	UTSW	7	46,303,245 (GRCm39)	missense	probably damaging	1.00
R0485:Tph1	UTSW	7	46,299,448 (GRCm39)	missense	probably benign	0.00
R0501:Tph1	UTSW	7	46,299,412 (GRCm39)	nonsense	probably null
R1456:Tph1	UTSW	7	46,296,907 (GRCm39)	nonsense	probably null
R1474:Tph1	UTSW	7	46,303,286 (GRCm39)	missense	probably benign	0.00
R1846:Tph1	UTSW	7	46,309,863 (GRCm39)	missense	probably damaging	0.98
R1967:Tph1	UTSW	7	46,311,538 (GRCm39)	missense	probably benign	0.30
R2176:Tph1	UTSW	7	46,311,463 (GRCm39)	missense	possibly damaging	0.91
R2225:Tph1	UTSW	7	46,314,598 (GRCm39)	critical splice donor site	probably null
R4773:Tph1	UTSW	7	46,306,376 (GRCm39)	missense	probably damaging	1.00
R4914:Tph1	UTSW	7	46,303,283 (GRCm39)	missense	probably damaging	1.00
R5590:Tph1	UTSW	7	46,303,216 (GRCm39)	missense	probably damaging	1.00
R5622:Tph1	UTSW	7	46,296,969 (GRCm39)	nonsense	probably null
R5960:Tph1	UTSW	7	46,311,429 (GRCm39)	critical splice donor site	probably null
R5985:Tph1	UTSW	7	46,303,205 (GRCm39)	missense	probably damaging	1.00
R6362:Tph1	UTSW	7	46,296,867 (GRCm39)	missense	possibly damaging	0.94
R7151:Tph1	UTSW	7	46,311,541 (GRCm39)	missense	possibly damaging	0.93
R7329:Tph1	UTSW	7	46,306,285 (GRCm39)	splice site	probably null
R7395:Tph1	UTSW	7	46,306,627 (GRCm39)	splice site	probably null
R7975:Tph1	UTSW	7	46,306,678 (GRCm39)	missense	probably damaging	1.00
R8012:Tph1	UTSW	7	46,306,303 (GRCm39)	missense	probably damaging	1.00
R8169:Tph1	UTSW	7	46,303,233 (GRCm39)	synonymous	silent
R8261:Tph1	UTSW	7	46,303,173 (GRCm39)	synonymous	silent
R9232:Tph1	UTSW	7	46,311,529 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGCGCTTTGTATAATTGCCTAG -3'
(R):5'- TCAAACTGCTCTTGCTTCTGAG -3'

Sequencing Primer
(F):5'- AGGATCTAGGGTTCAGTTCCCAAC -3'
(R):5'- AGTTTTTGCTTCGGTTAAGACAGTC -3'

Posted On

2014-09-18