Mutagenetix > Incidental Mutations

Incidental Mutation 'RF014:Ptpn4'

603384

Institutional Source

Beutler Lab

Gene Symbol

Ptpn4

Ensembl Gene

ENSMUSG00000026384

Gene Name

protein tyrosine phosphatase, non-receptor type 4

Synonyms

TEP/mPTPMEG, PTPMEG, TEP, testis-enriched phosphatase, hPTP-MEG, protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

RF014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119652467-119837613 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 119684465 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000166624]

Predicted Effect

probably null
Transcript: ENSMUST00000064091

SMART Domains

Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384

Domain	Start	End	E-Value	Type
B41	25	222	7.33e-80	SMART
FERM_C	226	316	6.48e-34	SMART
FA	322	368	3.28e-12	SMART
PDZ	526	605	2.47e-14	SMART
PTPc	654	913	1.38e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166624

SMART Domains

Protein: ENSMUSP00000126216
Gene: ENSMUSG00000026384

Domain	Start	End	E-Value	Type
Blast:PTPc	1	65	1e-34	BLAST
PDB:2I75\|A	15	67	2e-28	PDB

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,857		probably benign	Het
9530003J23Rik	A	G	10: 117,234,417	*152Q	probably null	Het
A2ml1	T	C	6: 128,570,068	N366S	probably damaging	Het
Abca5	T	C	11: 110,279,754		probably null	Het
Acaca	T	C	11: 84,231,724	V323A	probably benign	Het
Agbl3	T	A	6: 34,799,358	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,370,768	S170T	possibly damaging	Het
Amhr2	A	T	15: 102,453,154	S467C	probably benign	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 109,033,422		probably benign	Het
Best3	A	T	10: 117,004,505	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,141,265		probably benign	Het
Ccdc186	A	G	19: 56,813,472	L71S	probably benign	Het
Ces1d	C	A	8: 93,176,165		probably null	Het
Chga	AGC	AGCGGC	12: 102,561,393		probably benign	Het
Chga	AGC	AGCTGC	12: 102,561,405		probably benign	Het
Clstn3	T	A	6: 124,459,266	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 130,093,067		probably benign	Het
Cpxm2	G	T	7: 132,070,863	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dst	T	C	1: 34,247,679	S3364P	probably benign	Het
Edc4	C	T	8: 105,884,600	T61M	probably benign	Het
Fndc5	A	G	4: 129,142,167	H199R	probably benign	Het
Gm43302	T	A	5: 105,274,757	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,835,286		probably benign	Het
Irf9	C	T	14: 55,605,877	R179*	probably null	Het
Jakmip1	A	T	5: 37,174,526	K850M	possibly damaging	Het
Kalrn	G	A	16: 34,039,933	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,042,251		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 95,940,657		probably benign	Het
Lctl	A	G	9: 64,118,930	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,718,553		probably benign	Het
Luzp2	A	T	7: 55,172,205	I157F	probably damaging	Het
Mamld1	GCA	GCACCA	X: 71,118,845		probably benign	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,306,295		probably benign	Het
Mbd3l1	A	T	9: 18,485,000	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,268,029	Q461L	probably benign	Het
Mto1	G	T	9: 78,448,316	R7L	probably benign	Het
Muc4	A	T	16: 32,751,858	S579C	probably damaging	Het
Ngfr	T	C	11: 95,578,201	Y117C	probably damaging	Het
Olfr432	A	T	1: 174,050,987	I205F	possibly damaging	Het
Olfr537-ps1	A	T	7: 140,538,777	M87L	probably benign	Het
Olfr926	C	A	9: 38,877,900	H241Q	probably benign	Het
Plch2	A	G	4: 155,007,120	S179P	probably damaging	Het
Pogz	T	G	3: 94,878,247	S838A	possibly damaging	Het
Pot1b	T	A	17: 55,674,106	T303S	probably benign	Het
Pou2f2	T	A	7: 25,115,737	I72L	unknown	Het
Ppil2	C	T	16: 17,097,418	V109M	probably damaging	Het
Ptprs	A	T	17: 56,416,935	I1686N	probably damaging	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,858,489		probably benign	Het
Rnf14	T	A	18: 38,309,570	V308E	probably damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,346		probably benign	Het
Sgo2b	T	C	8: 63,931,405	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,621,356		probably benign	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Stox1	T	A	10: 62,664,246	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,665		probably benign	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,016,400		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,801,283		probably benign	Het
Trim33	T	C	3: 103,329,092	V506A	possibly damaging	Het
Uckl1	T	C	2: 181,570,194	D373G	probably benign	Het
Vmn2r94	G	T	17: 18,253,287	C492*	probably null	Het
Wdr33	A	G	18: 31,881,273	D396G	probably damaging	Het
Zbtb11	A	T	16: 55,980,597	I105L	probably damaging	Het
Zbtb40	A	T	4: 137,017,306	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,109,744	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,036,466		probably benign	Het
Zfp72	A	G	13: 74,375,054	F15S	probably benign	Het
Znrd1as	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 36,965,060		probably benign	Het

Other mutations in Ptpn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Ptpn4	APN	1	119659925	splice site	probably benign
IGL00885:Ptpn4	APN	1	119802363	missense	possibly damaging	0.95
IGL00973:Ptpn4	APN	1	119741371	missense	probably benign	0.00
IGL01867:Ptpn4	APN	1	119675599	missense	probably benign
IGL01870:Ptpn4	APN	1	119675547	critical splice donor site	probably null
IGL02101:Ptpn4	APN	1	119687678	missense	probably damaging	1.00
IGL02344:Ptpn4	APN	1	119773260	missense	probably damaging	1.00
IGL02348:Ptpn4	APN	1	119682722	missense	probably damaging	1.00
IGL02693:Ptpn4	APN	1	119715969	missense	probably damaging	0.96
IGL03281:Ptpn4	APN	1	119659912	missense	probably damaging	1.00
alto	UTSW	1	119684581	nonsense	probably null
botched	UTSW	1	119743390	missense	probably damaging	1.00
bungled	UTSW	1	119687605	splice site	probably null
hash	UTSW	1	119765919	nonsense	probably null
Hoechter	UTSW	1	119680059	missense	probably damaging	1.00
BB008:Ptpn4	UTSW	1	119680195	missense	probably damaging	0.98
BB018:Ptpn4	UTSW	1	119680195	missense	probably damaging	0.98
R0105:Ptpn4	UTSW	1	119687605	splice site	probably null
R0105:Ptpn4	UTSW	1	119687605	splice site	probably null
R0504:Ptpn4	UTSW	1	119765915	missense	probably damaging	1.00
R1148:Ptpn4	UTSW	1	119684540	missense	probably damaging	0.99
R1148:Ptpn4	UTSW	1	119675709	splice site	probably benign
R1148:Ptpn4	UTSW	1	119684540	missense	probably damaging	0.99
R1662:Ptpn4	UTSW	1	119765058	missense	probably damaging	0.96
R1694:Ptpn4	UTSW	1	119783510	missense	probably damaging	0.99
R1733:Ptpn4	UTSW	1	119716043	splice site	probably null
R2083:Ptpn4	UTSW	1	119687759	missense	possibly damaging	0.63
R2226:Ptpn4	UTSW	1	119682785	missense	probably damaging	1.00
R2276:Ptpn4	UTSW	1	119684591	missense	probably damaging	1.00
R2277:Ptpn4	UTSW	1	119684591	missense	probably damaging	1.00
R3123:Ptpn4	UTSW	1	119765423	splice site	probably null
R3425:Ptpn4	UTSW	1	119707830	missense	probably benign	0.02
R4568:Ptpn4	UTSW	1	119680059	missense	probably damaging	1.00
R4716:Ptpn4	UTSW	1	119721868	missense	probably damaging	1.00
R4819:Ptpn4	UTSW	1	119659850	missense	probably benign
R4959:Ptpn4	UTSW	1	119765096	nonsense	probably null
R5161:Ptpn4	UTSW	1	119707863	nonsense	probably null
R5345:Ptpn4	UTSW	1	119765477	missense	probably benign
R5471:Ptpn4	UTSW	1	119765919	nonsense	probably null
R5826:Ptpn4	UTSW	1	119684516	missense	probably benign	0.32
R5933:Ptpn4	UTSW	1	119687723	missense	probably damaging	0.97
R6075:Ptpn4	UTSW	1	119765136	missense	probably damaging	1.00
R6286:Ptpn4	UTSW	1	119721862	critical splice donor site	probably null
R6389:Ptpn4	UTSW	1	119721954	missense	probably damaging	0.97
R6392:Ptpn4	UTSW	1	119773123	missense	probably benign
R6769:Ptpn4	UTSW	1	119715968	missense	probably benign	0.01
R6771:Ptpn4	UTSW	1	119715968	missense	probably benign	0.01
R6794:Ptpn4	UTSW	1	119743390	missense	probably damaging	1.00
R6933:Ptpn4	UTSW	1	119773148	intron	probably benign
R6967:Ptpn4	UTSW	1	119684581	nonsense	probably null
R6980:Ptpn4	UTSW	1	119743421	missense	possibly damaging	0.86
R7150:Ptpn4	UTSW	1	119691745	critical splice donor site	probably null
R7247:Ptpn4	UTSW	1	119690034	makesense	probably null
R7283:Ptpn4	UTSW	1	119682531	missense	possibly damaging	0.90
R7459:Ptpn4	UTSW	1	119659834	missense	probably damaging	0.99
R7732:Ptpn4	UTSW	1	119692802	missense	probably benign
R7794:Ptpn4	UTSW	1	119726037	missense	probably damaging	1.00
R8061:Ptpn4	UTSW	1	119691600	critical splice donor site	probably null
R8236:Ptpn4	UTSW	1	119678822	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AACGACATCTTCCTGCATAGC -3'
(R):5'- TTGTTTCCTACACAAAGGCACC -3'

Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- AAGGCACCAATCAGATATAATGC -3'

Posted On

2019-12-04