Mutagenetix > Incidental Mutation

Incidental Mutation 'R2049:Ptpre'

226225

Institutional Source

Beutler Lab

Gene Symbol

Ptpre

Ensembl Gene

ENSMUSG00000041836

Gene Name

protein tyrosine phosphatase receptor type E

Synonyms

RPTPepsilon, PTPepsilon, PTPe

MMRRC Submission

040056-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R2049 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

135139210-135288022 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 135272424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147524 (fasta)

Gene Model

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

AlphaFold

P49446

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000209256

Predicted Effect

probably benign
Transcript: ENSMUST00000209979

Predicted Effect

probably benign
Transcript: ENSMUST00000210833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211092

Predicted Effect

probably benign
Transcript: ENSMUST00000211140

Predicted Effect

probably benign
Transcript: ENSMUST00000211788

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (118/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,822,444 (GRCm39)	R8*	probably null	Het
Abhd17a	A	G	10: 80,421,440 (GRCm39)		probably null	Het
Acsm1	A	G	7: 119,255,262 (GRCm39)	R415G	probably damaging	Het
Acta1	G	T	8: 124,618,803 (GRCm39)	T360N	probably benign	Het
Adam6a	T	A	12: 113,508,049 (GRCm39)	S141T	probably benign	Het
Adgrd1	G	T	5: 129,192,159 (GRCm39)	K76N	probably benign	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Agps	T	A	2: 75,689,270 (GRCm39)	M156K	probably benign	Het
Agxt	A	G	1: 93,065,037 (GRCm39)	I149V	probably benign	Het
Aoc1l1	T	A	6: 48,954,689 (GRCm39)	L609*	probably null	Het
Aqp2	A	G	15: 99,477,247 (GRCm39)	T72A	probably damaging	Het
Arhgap18	T	A	10: 26,725,938 (GRCm39)	D54E	probably benign	Het
Asb8	C	A	15: 98,033,950 (GRCm39)	E202*	probably null	Het
Bmp5	A	G	9: 75,801,072 (GRCm39)	I401V	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cep112	A	G	11: 108,497,151 (GRCm39)	E697G	probably damaging	Het
Cerk	G	A	15: 86,027,009 (GRCm39)	S167L	probably benign	Het
Chrm3	T	A	13: 9,928,371 (GRCm39)	I222F	probably damaging	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Commd10	A	T	18: 47,096,814 (GRCm39)	T74S	probably benign	Het
Cyp4f39	T	C	17: 32,701,112 (GRCm39)	F201L	probably benign	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dlg5	A	T	14: 24,204,715 (GRCm39)	I1253N	probably damaging	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dnah9	A	G	11: 65,935,509 (GRCm39)	M1970T	probably damaging	Het
Dsc3	A	T	18: 20,122,737 (GRCm39)	D62E	possibly damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dusp7	C	T	9: 106,251,096 (GRCm39)	T407M	probably damaging	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Eif1ad8	A	G	12: 87,564,046 (GRCm39)	D127G	unknown	Het
Entpd5	A	G	12: 84,443,632 (GRCm39)	I12T	probably benign	Het
Espn	T	C	4: 152,205,714 (GRCm39)	E408G	probably damaging	Het
Fhip1b	A	T	7: 105,039,046 (GRCm39)	D64E	probably damaging	Het
Gdpd3	A	G	7: 126,367,766 (GRCm39)	T200A	probably damaging	Het
Gli1	A	G	10: 127,172,596 (GRCm39)	L182P	probably damaging	Het
Gm5134	G	A	10: 75,840,718 (GRCm39)	A521T	possibly damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
H2-M10.1	T	C	17: 36,636,108 (GRCm39)	D153G	possibly damaging	Het
Helb	A	T	10: 119,941,926 (GRCm39)	M254K	possibly damaging	Het
I0C0044D17Rik	A	G	4: 98,708,533 (GRCm39)		probably benign	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Igfn1	T	A	1: 135,898,376 (GRCm39)	Q730L	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Jmjd1c	T	A	10: 66,993,777 (GRCm39)	L86*	probably null	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kif14	A	G	1: 136,414,818 (GRCm39)	N768S	probably benign	Het
Kif14	A	G	1: 136,437,905 (GRCm39)	E1199G	possibly damaging	Het
Klhl29	A	G	12: 5,187,876 (GRCm39)	S163P	probably damaging	Het
Kmt2c	C	A	5: 25,490,077 (GRCm39)	Q4287H	probably damaging	Het
Krt82	T	A	15: 101,453,591 (GRCm39)	Q265L	probably damaging	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myom2	T	G	8: 15,156,379 (GRCm39)	I742S	probably damaging	Het
Narf	A	T	11: 121,141,195 (GRCm39)	R310*	probably null	Het
Nktr	T	A	9: 121,570,760 (GRCm39)	D167E	probably damaging	Het
Nle1	A	G	11: 82,796,192 (GRCm39)	W183R	probably damaging	Het
Npas3	A	G	12: 54,108,871 (GRCm39)	N425S	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4a27	A	T	2: 88,559,089 (GRCm39)	Y285N	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4d5	T	A	9: 40,012,415 (GRCm39)	I124L	probably benign	Het
Or6c69	A	G	10: 129,748,036 (GRCm39)	V37A	probably benign	Het
Or8g52	A	T	9: 39,631,411 (GRCm39)	D296V	probably damaging	Het
Or8s2	G	A	15: 98,276,277 (GRCm39)	T238I	possibly damaging	Het
Otol1	T	A	3: 69,926,169 (GRCm39)	F115I	probably benign	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pex7	T	A	10: 19,770,061 (GRCm39)	H123L	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,909 (GRCm39)		probably benign	Het
Pkhd1l1	G	A	15: 44,445,137 (GRCm39)	D3670N	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Plekha4	A	G	7: 45,203,222 (GRCm39)	D704G	probably benign	Het
Plxnb2	T	A	15: 89,043,205 (GRCm39)	N1453I	probably damaging	Het
Pms1	T	A	1: 53,321,147 (GRCm39)	I29F	probably damaging	Het
Ppp1r1a	G	A	15: 103,439,833 (GRCm39)	T153I	probably damaging	Het
Pramel12	T	A	4: 143,143,441 (GRCm39)	L69Q	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptprt	A	T	2: 161,376,465 (GRCm39)	I1312N	probably damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rims1	C	T	1: 22,635,516 (GRCm39)	C155Y	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Sltm	G	A	9: 70,488,583 (GRCm39)	G578S	probably benign	Het
Smyd5	A	G	6: 85,421,300 (GRCm39)	E338G	probably benign	Het
Snx2	G	A	18: 53,327,516 (GRCm39)	V81M	probably damaging	Het
Sp2	G	T	11: 96,852,191 (GRCm39)	N244K	probably benign	Het
Sspo	C	A	6: 48,437,697 (GRCm39)		probably benign	Het
Sspo	A	C	6: 48,440,465 (GRCm39)	D1568A	probably benign	Het
Ssrp1	T	C	2: 84,871,771 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Syt7	G	A	19: 10,416,577 (GRCm39)	R138Q	probably benign	Het
Taar7f	T	C	10: 23,926,323 (GRCm39)	Y306H	possibly damaging	Het
Tbccd1	T	C	16: 22,637,291 (GRCm39)		probably null	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tex261	A	G	6: 83,749,241 (GRCm39)	Y119H	probably damaging	Het
Tmem131l	T	G	3: 83,850,095 (GRCm39)	E234D	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Top6bl	A	G	19: 4,748,633 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Uso1	G	A	5: 92,329,795 (GRCm39)	G427R	probably damaging	Het
Usp15	A	T	10: 122,955,042 (GRCm39)	V912D	probably damaging	Het
Vmn1r20	T	C	6: 57,408,943 (GRCm39)	S90P	probably damaging	Het
Vmn1r32	T	C	6: 66,530,545 (GRCm39)	K77R	probably damaging	Het
Vmn2r100	A	G	17: 19,742,312 (GRCm39)	K229E	probably benign	Het
Vmn2r106	A	G	17: 20,488,566 (GRCm39)	V611A	possibly damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zbtb21	G	T	16: 97,751,355 (GRCm39)	P804H	probably damaging	Het
Zdhhc3	T	C	9: 122,929,602 (GRCm39)	D11G	probably damaging	Het
Zfhx3	A	G	8: 109,671,809 (GRCm39)	T1324A	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp608	G	T	18: 55,028,637 (GRCm39)	L1259I	probably damaging	Het

Other mutations in Ptpre

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Ptpre	APN	7	135,260,782 (GRCm39)	missense	probably damaging	0.98
IGL01019:Ptpre	APN	7	135,280,054 (GRCm39)	nonsense	probably null
IGL01115:Ptpre	APN	7	135,272,493 (GRCm39)	missense	probably damaging	1.00
IGL01456:Ptpre	APN	7	135,271,531 (GRCm39)	missense	probably damaging	1.00
IGL01516:Ptpre	APN	7	135,266,728 (GRCm39)	missense	probably damaging	0.97
IGL02108:Ptpre	APN	7	135,260,831 (GRCm39)	missense	possibly damaging	0.85
IGL02735:Ptpre	APN	7	135,269,296 (GRCm39)	missense	probably damaging	1.00
IGL03326:Ptpre	APN	7	135,274,546 (GRCm39)	missense	probably damaging	1.00
IGL03327:Ptpre	APN	7	135,274,551 (GRCm39)	critical splice donor site	probably null
R0183:Ptpre	UTSW	7	135,271,574 (GRCm39)	missense	probably benign	0.01
R0369:Ptpre	UTSW	7	135,272,444 (GRCm39)	missense	probably damaging	1.00
R0538:Ptpre	UTSW	7	135,265,044 (GRCm39)	missense	probably damaging	0.99
R0762:Ptpre	UTSW	7	135,280,964 (GRCm39)	missense	probably damaging	0.99
R1169:Ptpre	UTSW	7	135,269,341 (GRCm39)	missense	probably benign	0.33
R1214:Ptpre	UTSW	7	135,280,987 (GRCm39)	missense	probably damaging	1.00
R1629:Ptpre	UTSW	7	135,271,528 (GRCm39)	missense	probably damaging	1.00
R1654:Ptpre	UTSW	7	135,255,657 (GRCm39)	missense	probably benign	0.32
R1819:Ptpre	UTSW	7	135,270,722 (GRCm39)	splice site	probably benign
R1876:Ptpre	UTSW	7	135,280,046 (GRCm39)	missense	possibly damaging	0.73
R2284:Ptpre	UTSW	7	135,271,510 (GRCm39)	missense	probably benign	0.05
R2895:Ptpre	UTSW	7	135,245,587 (GRCm39)	nonsense	probably null
R4508:Ptpre	UTSW	7	135,270,832 (GRCm39)	missense	probably damaging	1.00
R4603:Ptpre	UTSW	7	135,269,372 (GRCm39)	nonsense	probably null
R4644:Ptpre	UTSW	7	135,253,661 (GRCm39)	intron	probably benign
R4863:Ptpre	UTSW	7	135,270,861 (GRCm39)	missense	probably benign	0.00
R4989:Ptpre	UTSW	7	135,270,861 (GRCm39)	missense	probably benign	0.00
R5015:Ptpre	UTSW	7	135,270,861 (GRCm39)	missense	probably benign	0.00
R5133:Ptpre	UTSW	7	135,270,861 (GRCm39)	missense	probably benign	0.00
R5134:Ptpre	UTSW	7	135,253,821 (GRCm39)	missense	probably damaging	0.96
R5291:Ptpre	UTSW	7	135,280,030 (GRCm39)	missense	probably benign
R5372:Ptpre	UTSW	7	135,255,669 (GRCm39)	missense	possibly damaging	0.87
R5653:Ptpre	UTSW	7	135,255,672 (GRCm39)	missense	probably damaging	0.99
R5896:Ptpre	UTSW	7	135,276,007 (GRCm39)	missense	probably benign	0.39
R6238:Ptpre	UTSW	7	135,272,909 (GRCm39)	missense	probably damaging	1.00
R6974:Ptpre	UTSW	7	135,270,877 (GRCm39)	missense	possibly damaging	0.95
R7125:Ptpre	UTSW	7	135,255,744 (GRCm39)	nonsense	probably null
R7298:Ptpre	UTSW	7	135,285,016 (GRCm39)	missense	probably damaging	1.00
R7453:Ptpre	UTSW	7	135,139,803 (GRCm39)	missense	unknown
R7459:Ptpre	UTSW	7	135,269,329 (GRCm39)	missense	probably benign
R7855:Ptpre	UTSW	7	135,253,724 (GRCm39)	missense	probably benign
R7970:Ptpre	UTSW	7	135,280,048 (GRCm39)	missense	possibly damaging	0.51
R8003:Ptpre	UTSW	7	135,270,765 (GRCm39)	missense	probably damaging	0.96
R8768:Ptpre	UTSW	7	135,283,306 (GRCm39)	missense	possibly damaging	0.92
R9109:Ptpre	UTSW	7	135,271,508 (GRCm39)	missense	probably benign
R9131:Ptpre	UTSW	7	135,280,875 (GRCm39)	missense	probably damaging	1.00
R9267:Ptpre	UTSW	7	135,274,549 (GRCm39)	missense	probably damaging	1.00
R9541:Ptpre	UTSW	7	135,266,740 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GCCATGGTGGTGATTCTAAGC -3'
(R):5'- AAGTTGGCACCATTTTCCTTGG -3'

Sequencing Primer
(F):5'- TGGTGATTCTAAGCAGCTGACATAG -3'
(R):5'- CCCTCAGGGTGTGGAAGTTG -3'

Posted On

2014-09-17