Mutagenetix > Incidental Mutations

Incidental Mutation 'R7240:Tpst2'

563135

Institutional Source

Beutler Lab

Gene Symbol

Tpst2

Ensembl Gene

ENSMUSG00000029344

Gene Name

protein-tyrosine sulfotransferase 2

Synonyms

D5Ucla3, grm, Tango13b, grt

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112276691-112315361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112307678 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 28 (C28R)

Ref Sequence

ENSEMBL: ENSMUSP00000031287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031287] [ENSMUST00000071455] [ENSMUST00000151947]

Predicted Effect

probably benign
Transcript: ENSMUST00000031287
AA Change: C28R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
AA Change: C28R

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
Pfam:Sulfotransfer_3	82	272	8.8e-19	PFAM
Pfam:Sulfotransfer_1	82	284	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071455
AA Change: C28R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
AA Change: C28R

Domain	Start	End	E-Value	Type
low complexity region	22	43	N/A	INTRINSIC
Pfam:Sulfotransfer_3	82	276	8.4e-16	PFAM
Pfam:Sulfotransfer_1	82	284	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140262

SMART Domains

Protein: ENSMUSP00000116816
Gene: ENSMUSG00000029344

Domain	Start	End	E-Value	Type
PDB:3AP2\|B	2	63	4e-36	PDB
SCOP:d1fmja_	3	55	9e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151947
AA Change: C28R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000198502

Meta Mutation Damage Score

0.3532

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutants show a delayed rise and a prolonged deficit of pituitary growth hormone resulting in delayed pubertal growth, hypothyroidism, and an enlarged adenohypophysis with aberrant chromophobic cells. Homozygous null mice show a modest but transient pubertal growth lag and male sterility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
E4f1	T	A	17: 24,444,325	I669F	probably damaging	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	Het

Other mutations in Tpst2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Tpst2	APN	5	112309858	missense	probably damaging	1.00
IGL03268:Tpst2	APN	5	112308225	missense	probably damaging	1.00
blooming	UTSW	5	112307757	missense	probably benign
gypsum	UTSW	5	112308045	missense	probably damaging	1.00
hot_springs	UTSW	5	112307678	missense	probably benign	0.05
R1175:Tpst2	UTSW	5	112308045	missense	probably damaging	1.00
R1423:Tpst2	UTSW	5	112307622	missense	probably benign	0.22
R1537:Tpst2	UTSW	5	112308420	missense	possibly damaging	0.48
R2013:Tpst2	UTSW	5	112308014	missense	probably damaging	1.00
R4624:Tpst2	UTSW	5	112308296	missense	probably damaging	1.00
R4873:Tpst2	UTSW	5	112309821	nonsense	probably null
R4875:Tpst2	UTSW	5	112309821	nonsense	probably null
R5272:Tpst2	UTSW	5	112307952	missense	probably damaging	1.00
R6123:Tpst2	UTSW	5	112308218	missense	probably damaging	1.00
R6487:Tpst2	UTSW	5	112308123	missense	probably damaging	1.00
R6605:Tpst2	UTSW	5	112276734	start gained	probably benign
R6688:Tpst2	UTSW	5	112307757	missense	probably benign
R7625:Tpst2	UTSW	5	112308021	missense	probably damaging	1.00
R7777:Tpst2	UTSW	5	112309694	missense	possibly damaging	0.53
R7797:Tpst2	UTSW	5	112307916	missense	probably damaging	1.00
R8306:Tpst2	UTSW	5	112307937	missense	probably damaging	1.00
R8486:Tpst2	UTSW	5	112308305	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCCAGCATCCTGTTTGTGTC -3'
(R):5'- CAGAATGAAGGCCTGCATGG -3'

Sequencing Primer
(F):5'- AGCATCCTGTTTGTGTCCCTATGG -3'
(R):5'- AGCTTCTCACGGCCAGACTTG -3'

Posted On

2019-06-26