Mutagenetix > Incidental Mutations

Incidental Mutation 'R7459:Ptpre'

578318

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: 0.625) question?

Stock #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135537481-135686293 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135667600 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 277 (N277S)

Ref Sequence

ENSEMBL: ENSMUSP00000147656 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000073961
AA Change: N257S

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

SMART Domains

Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: N257S

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: N277S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209979
AA Change: N200S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210833
AA Change: N257S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211140
AA Change: N257S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211788
AA Change: N270S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	G	8: 84,167,352	S383A	probably benign	Het
Adgre1	T	A	17: 57,449,933	V730E	probably damaging	Het
Agbl1	G	A	7: 76,420,066	D449N	not run	Het
Agr2	A	T	12: 35,997,453	E96V	probably benign	Het
Als2cr12	T	G	1: 58,691,752	E48D	possibly damaging	Het
Atp1a2	A	C	1: 172,287,295	S308A	probably benign	Het
Birc7	T	C	2: 180,929,357	S71P	possibly damaging	Het
Camk2g	T	C	14: 20,779,207	I73V	probably damaging	Het
Carf	C	A	1: 60,128,039	T177K	possibly damaging	Het
Ccdc191	C	T	16: 43,947,457	Q665*	probably null	Het
Cd79a	A	T	7: 24,899,142	T39S	possibly damaging	Het
Ces5a	C	A	8: 93,535,741		probably benign	Het
Dkk2	C	A	3: 132,175,029	T145N	probably benign	Het
Dot1l	C	T	10: 80,773,173	A188V	probably damaging	Het
Egfr	T	A	11: 16,896,967	V788D	probably damaging	Het
Esyt3	T	A	9: 99,358,064	H109L	probably benign	Het
Fam129c	T	A	8: 71,605,027	C516S	possibly damaging	Het
Fam234b	C	T	6: 135,211,901	T168I	probably benign	Het
Fan1	G	T	7: 64,348,966	S936Y	probably damaging	Het
Fat2	T	C	11: 55,303,919	E1098G	probably damaging	Het
Fcgbp	A	G	7: 28,107,285	D2226G	possibly damaging	Het
Flvcr2	T	C	12: 85,747,057	V69A	probably benign	Het
Foxb2	T	A	19: 16,873,072	H190L	unknown	Het
Fut4	C	T	9: 14,751,306	V231M	possibly damaging	Het
Gtf2a1	G	A	12: 91,575,652	A91V	probably benign	Het
Hip1	A	G	5: 135,414,297	S961P	probably damaging	Het
Hsf2bp	C	T	17: 31,946,734	V296M	probably benign	Het
Hspbp1	G	T	7: 4,684,578	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,980,812	E81K	probably benign	Het
Isg20l2	T	C	3: 87,932,178	L232P	possibly damaging	Het
Isx	A	G	8: 74,892,764	Y181C	probably benign	Het
Kif9	A	G	9: 110,519,041	Y644C	probably damaging	Het
Lin7c	T	A	2: 109,897,337	V177D	probably benign	Het
Lpin3	T	C	2: 160,897,300	S343P	probably benign	Het
Mat1a	A	T	14: 41,120,184	Q246L	probably benign	Het
Mlkl	T	C	8: 111,333,530	I75V	probably benign	Het
Ndufa7	T	A	17: 33,838,166	S107T	probably damaging	Het
Nip7	T	A	8: 107,057,336	C69*	probably null	Het
Nipa2	A	T	7: 55,933,341	W219R	probably damaging	Het
Oas2	A	C	5: 120,749,710	S22A	unknown	Het
Obscn	A	G	11: 59,131,657	V754A	probably benign	Het
Olfr1249	G	A	2: 89,630,668	P77S	probably damaging	Het
Osbpl1a	C	T	18: 12,933,585	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,479,553	Y522F	probably benign	Het
Pced1a	T	G	2: 130,419,824	D303A	possibly damaging	Het
Peli1	T	A	11: 21,148,190	Y308*	probably null	Het
Pfas	T	A	11: 68,988,655	R243W		Het
Pik3r5	C	A	11: 68,492,590	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,902,428	I1135N		Het
Prune1	C	A	3: 95,281,710		probably benign	Het
Ptpn4	T	A	1: 119,659,834	K926N	probably damaging	Het
Raver2	A	T	4: 101,107,213	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,910,634	V187A	probably benign	Het
Rgs3	A	G	4: 62,625,154	E242G	probably benign	Het
Rims2	T	G	15: 39,517,839	S1055R	probably benign	Het
Rnf146	T	C	10: 29,347,644	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,140,559	S455G	probably benign	Het
Samm50	T	C	15: 84,195,856		probably null	Het
Sh3bgr	A	G	16: 96,205,922	K31E	probably benign	Het
Slc39a8	T	C	3: 135,886,911	I449T	probably damaging	Het
Slc5a3	A	T	16: 92,079,017	Y654F	probably benign	Het
Spata1	T	A	3: 146,476,222	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,799,353		probably benign	Het
Stard13	A	C	5: 151,047,599	S848A	probably damaging	Het
Stat2	A	G	10: 128,276,565	S25G	possibly damaging	Het
Tet2	C	T	3: 133,480,289	R1129Q	possibly damaging	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tmem266	T	C	9: 55,396,599	L3P	unknown	Het
Tns3	A	T	11: 8,492,793	D523E	probably benign	Het
Trim3	A	T	7: 105,617,808	S455T	probably damaging	Het
Trim31	T	C	17: 36,909,662	V490A	probably damaging	Het
Trmt11	A	C	10: 30,590,043	N168K	probably benign	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Ttn	C	A	2: 76,919,138	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,519,803	D377N	probably damaging	Het
Ubl7	A	G	9: 57,914,592	T75A	probably damaging	Het
Ugt2b34	T	G	5: 86,901,275	D297A	possibly damaging	Het
Usp34	A	T	11: 23,364,458	H800L	possibly damaging	Het
Utp3	C	A	5: 88,555,553	L314M	probably damaging	Het
Zer1	A	G	2: 30,113,325	Y27H	probably damaging	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
R6974:Ptpre	UTSW	7	135669148	missense	possibly damaging	0.95
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
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'- TGGTCCACAGCCACATTTG -3'
(R):5'- CCATGCTATGAGTGGGTCAAG -3'

Sequencing Primer
(F):5'- ACATTTGCCACCTCGGAG -3'
(R):5'- CAAGGTGGGGCAGCTGTTC -3'

Posted On

2019-10-07