Mutagenetix > Incidental Mutations

Incidental Mutation 'R6974:Ptpre'

542352

Institutional Source

Beutler Lab

Gene Symbol

Ptpre

Ensembl Gene

ENSMUSG00000041836

Gene Name

protein tyrosine phosphatase, receptor type, E

Synonyms

PTPe, RPTPepsilon, PTPepsilon

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R6974 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135537481-135686293 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135669148 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 344 (V344A)

Ref Sequence

ENSEMBL: ENSMUSP00000147524 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073961
AA Change: V331A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: V331A

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

possibly damaging
Transcript: ENSMUST00000209256
AA Change: V351A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209979
AA Change: V274A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210833
AA Change: V331A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211140
AA Change: V331A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211788
AA Change: V344A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	T	A	12: 70,159,447	N67K	probably benign	Het
Amotl1	C	A	9: 14,644,920	E37*	probably null	Het
Ap4b1	C	A	3: 103,813,285	Y90*	probably null	Het
Apc	A	G	18: 34,298,427	E277G	possibly damaging	Het
Armc4	A	T	18: 7,294,479	Y45N	probably benign	Het
Atl1	T	A	12: 69,926,039	H44Q	probably damaging	Het
Atp6v0b	G	A	4: 117,885,667	T74M	probably benign	Het
Auts2	T	C	5: 131,440,599	T627A	probably benign	Het
B4galnt4	T	A	7: 141,067,536	I372N	possibly damaging	Het
B4galt2	A	G	4: 117,873,951	S338P	probably damaging	Het
Cfap43	A	C	19: 47,785,278		probably null	Het
Col4a1	T	C	8: 11,312,538		probably benign	Het
Col7a1	A	C	9: 108,969,426	I1741L	possibly damaging	Het
Coprs	A	T	8: 13,885,750	S90T	probably benign	Het
Csrnp3	T	C	2: 65,949,064	V40A	possibly damaging	Het
D11Wsu47e	A	G	11: 113,687,992	D71G	probably benign	Het
Ephx1	C	A	1: 180,999,722		probably null	Het
Erich6	C	A	3: 58,618,799	R594L	probably benign	Het
F2rl2	A	T	13: 95,700,530	N28Y	probably damaging	Het
Fbxo38	A	T	18: 62,506,669	N1041K	possibly damaging	Het
Fcgr2b	C	T	1: 170,963,408		probably null	Het
Fsip2	T	A	2: 82,978,717	N1793K	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gcnt3	A	G	9: 70,034,887	I133T	probably damaging	Het
Hoxa1	T	A	6: 52,158,041	I61F	probably damaging	Het
Impact	C	T	18: 12,982,112	L102F	probably damaging	Het
Ist1	A	T	8: 109,677,652	I196N	probably damaging	Het
Kcnv2	T	A	19: 27,333,882	S550T	probably benign	Het
Krt2	A	T	15: 101,817,879	S75T	unknown	Het
Krtap21-1	A	G	16: 89,403,578	S59P	unknown	Het
Lef1	A	T	3: 131,111,574	I35F	probably damaging	Het
Lpcat2	A	C	8: 92,873,079	N225T	probably damaging	Het
Lztfl1	A	T	9: 123,709,584	N142K	probably benign	Het
Mdh1b	G	A	1: 63,721,816	H88Y	probably benign	Het
Mettl26	A	G	17: 25,876,684	D171G	probably damaging	Het
Mrps24	A	T	11: 5,704,663	M97K	probably benign	Het
Ms4a14	A	T	19: 11,302,135	C1020S	probably benign	Het
Mterf1a	A	T	5: 3,890,854	I338K	probably benign	Het
Olfr1181	T	C	2: 88,423,812	Y71C	possibly damaging	Het
Olfr381	A	G	11: 73,486,473	I117T	probably benign	Het
Olfr591	T	A	7: 103,173,235	H134L	probably damaging	Het
Olfr834	T	A	9: 18,988,393	I135N	probably damaging	Het
Paqr3	T	A	5: 97,108,287	H76L	probably damaging	Het
Parp1	T	A	1: 180,589,506	Y618*	probably null	Het
Pilrb2	C	T	5: 137,871,787		probably benign	Het
Pkm	A	G	9: 59,668,570	N90D	probably damaging	Het
Pla2g4c	T	G	7: 13,344,534		probably null	Het
Plppr4	C	T	3: 117,323,018	V339I	probably damaging	Het
Pnkp	T	A	7: 44,861,038	D304E	probably damaging	Het
Pnlip	T	C	19: 58,679,635		probably null	Het
Polr2a	A	G	11: 69,747,200	C148R	probably damaging	Het
Ppp1r10	G	A	17: 35,929,551	G578S	probably benign	Het
Ptges2	C	T	2: 32,397,671	T137I	possibly damaging	Het
Rag1	A	G	2: 101,641,792	F1002L	probably damaging	Het
Rcn2	T	A	9: 56,053,014	Y188*	probably null	Het
Rest	A	G	5: 77,268,199	S87G	probably damaging	Het
Rgsl1	C	T	1: 153,799,822	D913N	probably damaging	Het
Scp2	A	G	4: 108,071,278	M1T	probably null	Het
Slamf8	T	A	1: 172,588,023	N83Y	probably damaging	Het
Slc26a11	T	A	11: 119,358,018	F75Y	possibly damaging	Het
Slc26a5	A	G	5: 21,840,572	S133P	probably damaging	Het
Sncb	A	T	13: 54,762,674	V83E	probably damaging	Het
Tmem243	A	G	5: 9,101,348	T11A	probably damaging	Het
Trim38	A	G	13: 23,789,519	N277D	probably benign	Het
Vmn1r189	C	T	13: 22,102,458	G70S	probably damaging	Het
Vmn2r-ps117	A	G	17: 18,838,233	R684G	probably benign	Het
Wdr59	T	C	8: 111,460,788	N792D	possibly damaging	Het
Wnt5a	A	G	14: 28,522,570	D238G	possibly damaging	Het
Zbtb42	C	A	12: 112,680,390	T333K	probably damaging	Het
Zfp119b	A	G	17: 55,938,564	S509P	probably benign	Het
Zfp365	T	A	10: 67,909,764	K61N	probably damaging	Het
Zfp553	T	C	7: 127,236,653	F460S	probably damaging	Het
Zfp788	C	T	7: 41,649,877	Q594*	probably null	Het
Zfp984	T	A	4: 147,761,250	M1L	possibly damaging	Het
Zmiz2	T	A	11: 6,397,566	Y291*	probably null	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
IGL03327:Ptpre	APN	7	135672822	critical splice donor site	probably null
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
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
R7938:Ptpre	UTSW	7	135651995	missense	probably benign
R8003:Ptpre	UTSW	7	135669036	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GAGATGCTAAACAGTTCCACCTCC -3'
(R):5'- GCCTTGTCAGCCTTCAAGAG -3'

Sequencing Primer
(F):5'- TAAACAGTTCCACCTCCCATCTC -3'
(R):5'- GCCTTCAAGAGTTTTACATATTGGG -3'

Posted On

2018-11-28