Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Ptpre'

395931

Institutional Source

Beutler Lab

Gene Symbol

Ptpre

Ensembl Gene

ENSMUSG00000041836

Gene Name

protein tyrosine phosphatase receptor type E

Synonyms

RPTPepsilon, PTPepsilon, PTPe

MMRRC Submission

042721-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135139210-135288022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135270861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 346 (H346Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147656 (fasta)

Gene Model

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

AlphaFold

P49446

Predicted Effect

probably benign
Transcript: ENSMUST00000073961
AA Change: H326Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: H326Y

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
AA Change: H346Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000209979
AA Change: H269Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210833
AA Change: H326Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211092

Predicted Effect

probably benign
Transcript: ENSMUST00000211140
AA Change: H326Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211788
AA Change: H339Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	T	4: 128,655,934 (GRCm39)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,484,875 (GRCm39)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,173,518 (GRCm39)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,587,560 (GRCm39)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Afg3l1	T	C	8: 124,216,532 (GRCm39)	V257A	probably benign	Het
Agbl1	C	A	7: 76,071,904 (GRCm39)	Q334K	probably benign	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Apob	A	T	12: 8,058,898 (GRCm39)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,649,765 (GRCm39)	C585R	probably damaging	Het
Baz2a	G	A	10: 127,951,995 (GRCm39)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,880,795 (GRCm39)	L14P	unknown	Het
Cachd1	G	A	4: 100,851,935 (GRCm39)	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,015,135 (GRCm39)	F86L	possibly damaging	Het
Ccdc192	C	T	18: 57,697,041 (GRCm39)	T65I	possibly damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,229,880 (GRCm39)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,512,456 (GRCm39)	V2913A	probably damaging	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
Csn1s1	A	G	5: 87,828,737 (GRCm39)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,795,663 (GRCm39)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,908,813 (GRCm39)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,007,939 (GRCm39)	K691E	probably benign	Het
Dppa4	G	A	16: 48,113,334 (GRCm39)	R189Q	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,375,605 (GRCm39)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Ezh2	C	T	6: 47,517,684 (GRCm39)	C584Y	probably damaging	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
Fam186a	T	G	15: 99,853,374 (GRCm39)	D122A	unknown	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fam234b	T	C	6: 135,186,193 (GRCm39)	V67A	probably benign	Het
Fbn2	T	C	18: 58,172,412 (GRCm39)	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,307,828 (GRCm39)	Y271H	probably damaging	Het
Gnmt	A	T	17: 47,036,860 (GRCm39)	S250T	probably benign	Het
Golgb1	C	A	16: 36,711,819 (GRCm39)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hap1	T	G	11: 100,242,357 (GRCm39)	M382L	probably benign	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,741,179 (GRCm39)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,458,514 (GRCm39)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,760,688 (GRCm39)	T426A	possibly damaging	Het
Jup	T	C	11: 100,273,941 (GRCm39)	D200G	probably benign	Het
Kcnq1	T	C	7: 142,748,083 (GRCm39)		probably null	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,852,240 (GRCm39)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Kras	T	C	6: 145,177,879 (GRCm39)	Q131R	probably benign	Het
Krt16	T	A	11: 100,138,457 (GRCm39)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,707,067 (GRCm39)	S635P	probably benign	Het
Mapre2	C	A	18: 23,991,190 (GRCm39)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,621,762 (GRCm39)	R703S	probably damaging	Het
Mboat2	A	G	12: 25,009,065 (GRCm39)	D457G	probably benign	Het
Med13	T	C	11: 86,210,675 (GRCm39)	D489G	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mtus1	T	C	8: 41,536,229 (GRCm39)	T496A	probably benign	Het
Nckap5	T	C	1: 125,961,697 (GRCm39)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,753,712 (GRCm39)	P224T	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or13a27	A	T	7: 139,925,236 (GRCm39)	I222N	probably damaging	Het
Or4c116	A	T	2: 88,942,140 (GRCm39)		probably null	Het
Or5an1	T	C	19: 12,260,670 (GRCm39)	L86P	possibly damaging	Het
Or5b121	T	A	19: 13,507,442 (GRCm39)	M135K	probably damaging	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,016,868 (GRCm39)	I886L	possibly damaging	Het
Prune2	C	T	19: 16,980,995 (GRCm39)	P51S	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rab27b	T	C	18: 70,122,659 (GRCm39)	D100G	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Samd14	T	C	11: 94,912,409 (GRCm39)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,433,195 (GRCm39)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,900,697 (GRCm39)	I990T	probably damaging	Het
Setx	A	G	2: 29,070,093 (GRCm39)	R2633G	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,428 (GRCm39)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,297,342 (GRCm39)		probably null	Het
Snrpf	T	C	10: 93,423,985 (GRCm39)	S2G	probably benign	Het
Speer2	C	A	16: 69,655,708 (GRCm39)	K39N	probably null	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,114,666 (GRCm39)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm39)	I304T	probably damaging	Het
Tomm7	A	G	5: 24,049,004 (GRCm39)	I23T	probably benign	Het
Top6bl	T	A	19: 4,708,449 (GRCm39)	S194C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,803,167 (GRCm39)	A111V	possibly damaging	Het
Usp47	T	A	7: 111,683,089 (GRCm39)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,219,621 (GRCm39)	I309T	probably benign	Het
Wnt6	T	C	1: 74,823,755 (GRCm39)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,573,449 (GRCm39)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,911,321 (GRCm39)	W60R	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
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'- GCATTCCAGGGTTCTCTGTG -3'
(R):5'- AAGAGGGGCTAGAATTCCTTTC -3'

Sequencing Primer
(F):5'- CTTCGGAAGGAGATGCTAAACAGTTC -3'
(R):5'- GAGGGGCTAGAATTCCTTTCTCCAC -3'

Posted On

2016-06-21