Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Tpst2'

346405

Institutional Source

Beutler Lab

Gene Symbol

Tpst2

Ensembl Gene

ENSMUSG00000029344

Gene Name

protein-tyrosine sulfotransferase 2

Synonyms

D5Ucla3, grt, grm, Tango13b

MMRRC Submission

041889-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R4624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112424557-112463227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112456162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 234 (M234V)

Ref Sequence

ENSEMBL: ENSMUSP00000071399 (fasta)

Gene Model

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

AlphaFold

O88856

Predicted Effect

probably damaging
Transcript: ENSMUST00000031287
AA Change: M234V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
AA Change: M234V

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 damaging
Transcript: ENSMUST00000071455
AA Change: M234V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
AA Change: M234V

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

noncoding transcript
Transcript: ENSMUST00000134071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139482

Predicted Effect

probably damaging
Transcript: ENSMUST00000140262
AA Change: M2V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116816
Gene: ENSMUSG00000029344
AA Change: M2V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198502

Meta Mutation Damage Score

0.9332

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cep131	T	C	11: 119,961,658 (GRCm39)	E558G	probably damaging	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Fscn2	A	T	11: 120,258,169 (GRCm39)	I364F	probably benign	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hfe	A	T	13: 23,890,061 (GRCm39)	C149*	probably null	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,124,253 (GRCm39)	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Pick1	T	A	15: 79,130,666 (GRCm39)	I250N	probably damaging	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tnnt1	G	A	7: 4,515,267 (GRCm39)		probably benign	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Uvssa	G	A	5: 33,547,300 (GRCm39)	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	probably benign	Het

Other mutations in Tpst2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Tpst2	APN	5	112,457,724 (GRCm39)	missense	probably damaging	1.00
IGL03268:Tpst2	APN	5	112,456,091 (GRCm39)	missense	probably damaging	1.00
blooming	UTSW	5	112,455,623 (GRCm39)	missense	probably benign
feldspar	UTSW	5	112,456,171 (GRCm39)	nonsense	probably null
gypsum	UTSW	5	112,455,911 (GRCm39)	missense	probably damaging	1.00
hot_springs	UTSW	5	112,455,544 (GRCm39)	missense	probably benign	0.05
R1175:Tpst2	UTSW	5	112,455,911 (GRCm39)	missense	probably damaging	1.00
R1423:Tpst2	UTSW	5	112,455,488 (GRCm39)	missense	probably benign	0.22
R1537:Tpst2	UTSW	5	112,456,286 (GRCm39)	missense	possibly damaging	0.48
R2013:Tpst2	UTSW	5	112,455,880 (GRCm39)	missense	probably damaging	1.00
R4873:Tpst2	UTSW	5	112,457,687 (GRCm39)	nonsense	probably null
R4875:Tpst2	UTSW	5	112,457,687 (GRCm39)	nonsense	probably null
R5272:Tpst2	UTSW	5	112,455,818 (GRCm39)	missense	probably damaging	1.00
R6123:Tpst2	UTSW	5	112,456,084 (GRCm39)	missense	probably damaging	1.00
R6487:Tpst2	UTSW	5	112,455,989 (GRCm39)	missense	probably damaging	1.00
R6605:Tpst2	UTSW	5	112,424,600 (GRCm39)	start gained	probably benign
R6688:Tpst2	UTSW	5	112,455,623 (GRCm39)	missense	probably benign
R7240:Tpst2	UTSW	5	112,455,544 (GRCm39)	missense	probably benign	0.05
R7625:Tpst2	UTSW	5	112,455,887 (GRCm39)	missense	probably damaging	1.00
R7777:Tpst2	UTSW	5	112,457,560 (GRCm39)	missense	possibly damaging	0.53
R7797:Tpst2	UTSW	5	112,455,782 (GRCm39)	missense	probably damaging	1.00
R8306:Tpst2	UTSW	5	112,455,803 (GRCm39)	missense	probably damaging	1.00
R8486:Tpst2	UTSW	5	112,456,171 (GRCm39)	nonsense	probably null
R8875:Tpst2	UTSW	5	112,457,714 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCTGGAGGTGATCGCCAAG -3'
(R):5'- ACTCACTTGGACAAGGAGACG -3'

Sequencing Primer
(F):5'- TGCTGTGTAACAAGGACCC -3'
(R):5'- GACAAGGAGACGCCCCCAG -3'

Posted On

2015-09-25