Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Ptpre'

374659

Institutional Source

Beutler Lab

Gene Symbol

Ptpre

Ensembl Gene

ENSMUSG00000041836

Gene Name

protein tyrosine phosphatase receptor type E

Synonyms

RPTPepsilon, PTPepsilon, PTPe

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R4863 (G1)

Quality Score

225

Status

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abcc12	T	A	8: 87,265,005 (GRCm39)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm39)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,367,723 (GRCm39)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,789,127 (GRCm39)	M238K	probably benign	Het
Clmn	A	T	12: 104,763,353 (GRCm39)	I91N	probably damaging	Het
Cog8	A	T	8: 107,776,806 (GRCm39)	L523H	probably damaging	Het
Cpxm2	T	A	7: 131,661,476 (GRCm39)	K437M	probably benign	Het
Dhx57	A	T	17: 80,560,540 (GRCm39)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,285,874 (GRCm39)		probably benign	Het
Dok3	G	A	13: 55,671,270 (GRCm39)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,941,687 (GRCm39)	H275Y	probably benign	Het
Ednra	A	T	8: 78,394,012 (GRCm39)	N361K	probably damaging	Het
Ei24	A	T	9: 36,695,861 (GRCm39)	S210R	probably damaging	Het
Erich3	T	A	3: 154,470,441 (GRCm39)	V158E	unknown	Het
Fam193a	T	A	5: 34,623,549 (GRCm39)	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,699,654 (GRCm39)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 27,785,769 (GRCm39)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,562,930 (GRCm39)		probably benign	Het
Fnip1	G	A	11: 54,406,382 (GRCm39)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,202,712 (GRCm39)	K289R	probably null	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,701,797 (GRCm39)	V116A	probably benign	Het
Gm10770	T	A	2: 150,020,816 (GRCm39)	K234*	probably null	Het
Gm9887	A	G	12: 69,418,763 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,316,577 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,677,528 (GRCm39)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,537,142 (GRCm39)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,528,057 (GRCm39)	A611V	probably damaging	Het
Hr	T	C	14: 70,809,412 (GRCm39)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,485,164 (GRCm39)	S388P	probably damaging	Het
Itga3	T	A	11: 94,952,793 (GRCm39)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,556,346 (GRCm39)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,486,403 (GRCm39)	S132P	probably damaging	Het
Lama3	C	T	18: 12,672,850 (GRCm39)	A2481V	probably damaging	Het
Lama3	T	C	18: 12,631,735 (GRCm39)		probably benign	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lmcd1	T	C	6: 112,264,832 (GRCm39)		probably benign	Het
Lrrc14	T	A	15: 76,597,562 (GRCm39)		probably null	Het
Lypd8l	A	T	11: 58,503,338 (GRCm39)		probably null	Het
Map4k5	G	A	12: 69,865,212 (GRCm39)	P591L	probably benign	Het
Mapk13	C	A	17: 28,995,284 (GRCm39)	D168E	probably damaging	Het
Marf1	A	C	16: 13,950,529 (GRCm39)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,338,738 (GRCm39)		probably null	Het
Mical3	T	C	6: 121,010,748 (GRCm39)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,124,789 (GRCm39)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,965,473 (GRCm39)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,644,216 (GRCm39)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,283,464 (GRCm39)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,300,235 (GRCm39)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 19,783,521 (GRCm39)		probably null	Het
Nxpe3	A	T	16: 55,669,996 (GRCm39)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,489,434 (GRCm39)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,632,161 (GRCm39)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,901,334 (GRCm39)	L722P	probably benign	Het
Pde6a	A	T	18: 61,378,663 (GRCm39)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,828,583 (GRCm39)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,491,123 (GRCm39)	D173G	probably benign	Het
Plcd4	A	G	1: 74,604,961 (GRCm39)		probably null	Het
Polr1g	T	A	7: 19,091,684 (GRCm39)	Q141L	probably damaging	Het
Pou2f2	A	G	7: 24,796,533 (GRCm39)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,316,702 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,073,611 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,805,103 (GRCm39)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,556 (GRCm39)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,328,243 (GRCm39)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,132,765 (GRCm39)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,066,100 (GRCm39)	M438V	probably benign	Het
Recql	T	G	6: 142,304,732 (GRCm39)		probably benign	Het
Rftn2	A	G	1: 55,211,198 (GRCm39)	V425A	probably benign	Het
Ror1	A	G	4: 100,267,001 (GRCm39)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,696,880 (GRCm39)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,210,828 (GRCm39)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,827,488 (GRCm39)	I268R	probably damaging	Het
Sin3b	G	A	8: 73,471,576 (GRCm39)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,719,649 (GRCm39)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,259,898 (GRCm39)	N481S	probably damaging	Het
Sos2	G	A	12: 69,686,928 (GRCm39)	T206I	probably benign	Het
Sp100	G	T	1: 85,632,724 (GRCm39)	A132S	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spata31d1c	T	A	13: 65,183,604 (GRCm39)	L382*	probably null	Het
Stard9	T	A	2: 120,531,341 (GRCm39)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,412,324 (GRCm39)	T286A	probably benign	Het
Tedc2	T	A	17: 24,436,910 (GRCm39)	K275M	probably damaging	Het
Ten1	A	T	11: 116,109,057 (GRCm39)	K242N	probably benign	Het
Thoc2l	A	T	5: 104,665,616 (GRCm39)	D46V	possibly damaging	Het
Tial1	C	T	7: 128,056,752 (GRCm39)	V1I	probably damaging	Het
Tle2	G	A	10: 81,424,725 (GRCm39)	R649H	possibly damaging	Het
Tmem178	A	G	17: 81,252,374 (GRCm39)	D86G	probably benign	Het
Trim29	T	A	9: 43,240,872 (GRCm39)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 41,950,132 (GRCm39)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,399,806 (GRCm39)	Q414H	possibly damaging	Het
Yars1	A	T	4: 129,083,675 (GRCm39)		probably benign	Het
Yipf4	A	G	17: 74,801,087 (GRCm39)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp426	T	C	9: 20,381,334 (GRCm39)	Y536C	probably damaging	Het
Zp2	T	G	7: 119,734,995 (GRCm39)	Y430S	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
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
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'- GCATTCCAGGGTTCTCTGTG -3'
(R):5'- GGGGCTAGAATTCCTTTCTCC -3'

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

Posted On

2016-03-17