Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03327:Ptpre'

416705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpre

Ensembl Gene

ENSMUSG00000041836

Gene Name

protein tyrosine phosphatase, receptor type, E

Synonyms

PTPe, RPTPepsilon, PTPepsilon

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.708) question?

Stock #

IGL03327

Quality Score

Status

Chromosome

Chromosomal Location

135537481-135686293 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 135672822 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073961] [ENSMUST00000209256] [ENSMUST00000209979] [ENSMUST00000210833] [ENSMUST00000211140] [ENSMUST00000211788]

Predicted Effect

probably null
Transcript: ENSMUST00000073961

SMART Domains

Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	25	36	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
PTPc	133	395	4.65e-136	SMART
PTPc	424	690	7.36e-116	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000209256

Predicted Effect

probably null
Transcript: ENSMUST00000209979

Predicted Effect

probably null
Transcript: ENSMUST00000210833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211092

Predicted Effect

probably null
Transcript: ENSMUST00000211140

Predicted Effect

probably null
Transcript: ENSMUST00000211788

Coding Region Coverage

Validation Efficiency

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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset peripheral myelination defects, increased activity of voltage-gated potassium channels in Schwann cells, and increased trabecular bone mass due to cell-specific defects in osteoclast function in young females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,761,670	N79S	probably damaging	Het
Adcy8	T	C	15: 64,920,267	Y280C	probably damaging	Het
Anapc1	T	C	2: 128,623,934	T1647A	probably benign	Het
Ano3	T	C	2: 110,697,178	I562V	possibly damaging	Het
Ash1l	C	T	3: 89,023,083	P1956S	probably benign	Het
Cd160	C	T	3: 96,805,533		probably null	Het
Chd3	G	T	11: 69,350,186	A1527E	probably damaging	Het
Clcn1	C	T	6: 42,311,219	T797I	probably benign	Het
Cntnap3	G	A	13: 64,887,768	Q44*	probably null	Het
Cntnap4	A	G	8: 112,773,576	D500G	probably benign	Het
Col6a6	T	C	9: 105,767,234	D1285G	possibly damaging	Het
Cr2	A	T	1: 195,169,759	V94E	probably damaging	Het
Dcaf1	T	C	9: 106,858,624	S924P	possibly damaging	Het
Eif5b	T	C	1: 38,041,691		probably benign	Het
Fat1	A	C	8: 44,950,468	K85N	probably damaging	Het
Fnip2	T	C	3: 79,518,081	E69G	probably damaging	Het
Fzr1	T	C	10: 81,369,184	T300A	probably benign	Het
Galc	A	G	12: 98,207,476		probably benign	Het
Gm17079	T	C	14: 51,692,963	T142A	possibly damaging	Het
Hibch	G	A	1: 52,920,380		probably benign	Het
Hmmr	A	G	11: 40,715,415	C243R	probably damaging	Het
Il25	T	C	14: 54,935,360		probably benign	Het
Kif5b	G	A	18: 6,222,767	R355W	probably damaging	Het
Kifc3	C	T	8: 95,108,432	D242N	probably damaging	Het
Lig1	T	G	7: 13,303,855	I677S	probably damaging	Het
Lrig1	G	T	6: 94,606,123	A1004E	probably benign	Het
Nras	A	G	3: 103,059,024	T35A	probably damaging	Het
Nt5c1b	C	T	12: 10,374,861	Q136*	probably null	Het
Olfr1046	C	T	2: 86,217,274	W145*	probably null	Het
Olfr1278	A	T	2: 111,292,462	N65Y	probably damaging	Het
Olfr815	T	G	10: 129,902,582	I43L	possibly damaging	Het
Plcb3	A	G	19: 6,955,052	F1080L	probably benign	Het
Plpp2	T	C	10: 79,530,984		probably null	Het
Scn3a	G	A	2: 65,536,672	A2V	probably damaging	Het
Sh3bp4	C	A	1: 89,144,163	Y244*	probably null	Het
Trip11	A	T	12: 101,883,418	N1462K	possibly damaging	Het
Ttc21b	T	C	2: 66,237,848	D278G	possibly damaging	Het
Virma	A	G	4: 11,518,984	T694A	probably benign	Het
Wdr35	T	C	12: 8,978,694		probably benign	Het
Xdh	T	C	17: 73,916,792	E535G	probably benign	Het

Other mutations in Ptpre

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Ptpre	APN	7	135659053	missense	probably damaging	0.98
IGL01019:Ptpre	APN	7	135678325	nonsense	probably null
IGL01115:Ptpre	APN	7	135670764	missense	probably damaging	1.00
IGL01456:Ptpre	APN	7	135669802	missense	probably damaging	1.00
IGL01516:Ptpre	APN	7	135664999	missense	probably damaging	0.97
IGL02108:Ptpre	APN	7	135659102	missense	possibly damaging	0.85
IGL02735:Ptpre	APN	7	135667567	missense	probably damaging	1.00
IGL03326:Ptpre	APN	7	135672817	missense	probably damaging	1.00
R0183:Ptpre	UTSW	7	135669845	missense	probably benign	0.01
R0369:Ptpre	UTSW	7	135670715	missense	probably damaging	1.00
R0538:Ptpre	UTSW	7	135663315	missense	probably damaging	0.99
R0762:Ptpre	UTSW	7	135679235	missense	probably damaging	0.99
R1169:Ptpre	UTSW	7	135667612	missense	probably benign	0.33
R1214:Ptpre	UTSW	7	135679258	missense	probably damaging	1.00
R1629:Ptpre	UTSW	7	135669799	missense	probably damaging	1.00
R1654:Ptpre	UTSW	7	135653928	missense	probably benign	0.32
R1819:Ptpre	UTSW	7	135668993	splice site	probably benign
R1876:Ptpre	UTSW	7	135678317	missense	possibly damaging	0.73
R2049:Ptpre	UTSW	7	135670695	splice site	probably benign
R2284:Ptpre	UTSW	7	135669781	missense	probably benign	0.05
R2895:Ptpre	UTSW	7	135643858	nonsense	probably null
R4508:Ptpre	UTSW	7	135669103	missense	probably damaging	1.00
R4603:Ptpre	UTSW	7	135667643	nonsense	probably null
R4644:Ptpre	UTSW	7	135651932	intron	probably benign
R4863:Ptpre	UTSW	7	135669132	missense	probably benign	0.00
R4989:Ptpre	UTSW	7	135669132	missense	probably benign	0.00
R5015:Ptpre	UTSW	7	135669132	missense	probably benign	0.00
R5133:Ptpre	UTSW	7	135669132	missense	probably benign	0.00
R5134:Ptpre	UTSW	7	135652092	missense	probably damaging	0.96
R5291:Ptpre	UTSW	7	135678301	missense	probably benign
R5372:Ptpre	UTSW	7	135653940	missense	possibly damaging	0.87
R5653:Ptpre	UTSW	7	135653943	missense	probably damaging	0.99
R5896:Ptpre	UTSW	7	135674278	missense	probably benign	0.39
R6238:Ptpre	UTSW	7	135671180	missense	probably damaging	1.00
R6974:Ptpre	UTSW	7	135669148	missense	possibly damaging	0.95
R7125:Ptpre	UTSW	7	135654015	nonsense	probably null
R7298:Ptpre	UTSW	7	135683287	missense	probably damaging	1.00
R7453:Ptpre	UTSW	7	135538074	missense	unknown
R7459:Ptpre	UTSW	7	135667600	missense	probably benign
R7855:Ptpre	UTSW	7	135651995	missense	probably benign
R7970:Ptpre	UTSW	7	135678319	missense	possibly damaging	0.51
R8003:Ptpre	UTSW	7	135669036	missense	probably damaging	0.96

Posted On

2016-08-02