Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Ptpre'

396041

Institutional Source

Beutler Lab

Gene Symbol

Ptpre

Ensembl Gene

ENSMUSG00000041836

Gene Name

protein tyrosine phosphatase receptor type E

Synonyms

RPTPepsilon, PTPepsilon, PTPe

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135139210-135288022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135253821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 83 (F83Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147524 (fasta)

Gene Model

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

AlphaFold

P49446

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073961
AA Change: F70Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: F70Y

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

noncoding transcript
Transcript: ENSMUST00000180693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181940

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209256
AA Change: F90Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209979
AA Change: F13Y

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210833
AA Change: F70Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210953

Predicted Effect

probably damaging
Transcript: ENSMUST00000211788
AA Change: F83Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211140
AA Change: F70Y

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211092

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	A	10: 77,161,679 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,869,950 (GRCm39)	I150T	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,125,842 (GRCm39)	C596R	probably damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,280,742 (GRCm39)	V76E	probably benign	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pax5	A	G	4: 44,710,407 (GRCm39)	M1T	probably null	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
St14	T	G	9: 31,006,879 (GRCm39)	D649A	probably benign	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	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
R2049:Ptpre	UTSW	7	135,272,424 (GRCm39)	splice site	probably benign
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
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'- TCTCACCAGCTCCTATGAGG -3'
(R):5'- GATTCTGGGTTACTAGCAAGTGAC -3'

Sequencing Primer
(F):5'- TCCTATGAGGAAATGAGTGTGC -3'
(R):5'- TTACTAGCAAGTGACAGCGTG -3'

Posted On

2016-06-21