Mutagenetix > Incidental Mutation

Incidental Mutation 'R5015:Ptpre'

385501

Institutional Source

Beutler Lab

Gene Symbol

Ptpre

Ensembl Gene

ENSMUSG00000041836

Gene Name

protein tyrosine phosphatase receptor type E

Synonyms

RPTPepsilon, PTPepsilon, PTPe

MMRRC Submission

042606-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.785) question?

Stock #

R5015 (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: 98.3%
3x: 97.3%
10x: 95.2%
20x: 91.3%

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
Adam25	T	A	8: 41,207,671 (GRCm39)	F312L	probably benign	Het
Adprm	A	G	11: 66,932,856 (GRCm39)	F18L	possibly damaging	Het
Ampd1	T	G	3: 103,006,981 (GRCm39)	N735K	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp1a4	T	C	1: 172,081,649 (GRCm39)	M168V	probably damaging	Het
Bcl6	G	A	16: 23,793,600 (GRCm39)	H116Y	probably damaging	Het
Bmpr2	T	A	1: 59,890,383 (GRCm39)	N338K	probably damaging	Het
Bms1	A	T	6: 118,381,224 (GRCm39)	Y697*	probably null	Het
Ccdc33	A	C	9: 58,025,918 (GRCm39)	F37C	probably damaging	Het
Ccdc60	T	A	5: 116,426,507 (GRCm39)	Q30L	probably benign	Het
Cndp1	C	A	18: 84,650,036 (GRCm39)	R219L	probably damaging	Het
Cstdc4	T	C	16: 36,006,837 (GRCm39)		probably null	Het
Daam2	C	A	17: 49,783,550 (GRCm39)	D627Y	probably damaging	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dnah2	T	G	11: 69,388,708 (GRCm39)	T892P	possibly damaging	Het
Dqx1	A	G	6: 83,043,092 (GRCm39)	T610A	probably benign	Het
Dspp	A	T	5: 104,324,926 (GRCm39)	I430L	possibly damaging	Het
Dytn	T	A	1: 63,672,854 (GRCm39)	K516N	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fmnl2	T	A	2: 52,993,773 (GRCm39)	N389K	possibly damaging	Het
Fn1	G	A	1: 71,665,336 (GRCm39)	T927I	probably damaging	Het
Foxn1	T	C	11: 78,261,989 (GRCm39)	K127E	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,608 (GRCm39)	F251S	probably damaging	Het
Frrs1	A	G	3: 116,672,088 (GRCm39)	D62G	probably damaging	Het
Fut10	T	A	8: 31,726,148 (GRCm39)	V301D	probably damaging	Het
Gk5	A	G	9: 96,059,470 (GRCm39)		probably null	Het
Glipr1l1	T	A	10: 111,914,279 (GRCm39)	N213K	probably benign	Het
Gm1110	A	G	9: 26,793,162 (GRCm39)	F538S	probably benign	Het
Gm7347	T	A	5: 26,262,366 (GRCm39)	T52S	probably benign	Het
Gsap	T	C	5: 21,427,406 (GRCm39)	I178T	probably damaging	Het
H1f9	C	A	11: 94,858,928 (GRCm39)	N74K	probably damaging	Het
Hcn1	A	T	13: 117,739,556 (GRCm39)	Q106L	unknown	Het
Isg20l2	G	T	3: 87,839,288 (GRCm39)	L166F	possibly damaging	Het
Kcnq3	T	A	15: 65,876,612 (GRCm39)	E510D	probably damaging	Het
Kif26b	G	T	1: 178,755,895 (GRCm39)	R2003L	probably damaging	Het
Kiss1r	T	C	10: 79,754,641 (GRCm39)	V45A	probably damaging	Het
Krt14	G	A	11: 100,098,032 (GRCm39)	R84*	probably null	Het
Mbd5	T	C	2: 49,148,208 (GRCm39)	M806T	possibly damaging	Het
Mdga1	A	T	17: 30,058,847 (GRCm39)	I13N	possibly damaging	Het
Mfsd4b5	T	C	10: 39,850,758 (GRCm39)	K73E	probably benign	Het
Mterf2	C	T	10: 84,955,596 (GRCm39)	G343R	probably benign	Het
Mto1	T	A	9: 78,368,903 (GRCm39)	F522I	probably benign	Het
Myo18b	T	C	5: 112,937,923 (GRCm39)	E1734G	probably damaging	Het
Myoz1	T	C	14: 20,703,787 (GRCm39)	T53A	probably benign	Het
Naxd	T	C	8: 11,563,032 (GRCm39)	L324P	probably damaging	Het
Nos1	T	A	5: 118,005,334 (GRCm39)	V18D	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Or10v5	T	C	19: 11,805,482 (GRCm39)	R303G	probably benign	Het
Or10z1	A	G	1: 174,078,448 (GRCm39)	L15S	possibly damaging	Het
Or1e29	C	G	11: 73,668,007 (GRCm39)	V49L	probably benign	Het
Or2j6	T	C	7: 139,980,083 (GRCm39)	D292G	probably damaging	Het
Or52b1	A	G	7: 104,978,811 (GRCm39)	V196A	possibly damaging	Het
Otof	T	A	5: 30,540,238 (GRCm39)	Y981F	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,670,597 (GRCm39)	K7E	probably damaging	Het
Pi4ka	A	G	16: 17,120,946 (GRCm39)	S73P	possibly damaging	Het
Plxnb1	T	A	9: 108,929,498 (GRCm39)	I118N	possibly damaging	Het
Prcc	T	C	3: 87,779,560 (GRCm39)	D158G	probably damaging	Het
Ptpn7	C	A	1: 135,066,877 (GRCm39)	R245S	possibly damaging	Het
Pwp2	A	G	10: 78,018,527 (GRCm39)	C86R	probably benign	Het
Rfng	T	G	11: 120,673,876 (GRCm39)	D178A	probably damaging	Het
Rhpn1	T	C	15: 75,580,090 (GRCm39)	I51T	probably damaging	Het
Rnasel	G	T	1: 153,629,843 (GRCm39)	E120*	probably null	Het
Sall2	T	G	14: 52,553,112 (GRCm39)	S26R	possibly damaging	Het
Scn10a	A	G	9: 119,451,987 (GRCm39)	V1312A	possibly damaging	Het
Sdk2	C	A	11: 113,684,587 (GRCm39)	R1958L	probably damaging	Het
Septin4	C	T	11: 87,458,043 (GRCm39)	S139F	possibly damaging	Het
Slc52a2	T	A	15: 76,424,751 (GRCm39)	C330S	probably damaging	Het
Smarca2	T	A	19: 26,668,788 (GRCm39)	I987N	possibly damaging	Het
Srrt	A	T	5: 137,294,271 (GRCm39)	Y486N	probably damaging	Het
Stat5b	A	T	11: 100,695,831 (GRCm39)	N50K	possibly damaging	Het
Strip2	T	A	6: 29,931,265 (GRCm39)	D405E	probably benign	Het
Tcstv6	T	A	13: 120,298,474 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,924,739 (GRCm39)	D986E	probably damaging	Het
Tph2	T	C	10: 114,915,621 (GRCm39)	N473S	probably benign	Het
Tpp1	C	T	7: 105,401,232 (GRCm39)		probably benign	Het
Trpm3	T	C	19: 22,689,076 (GRCm39)	Y2H	probably damaging	Het
Ttc21a	A	T	9: 119,795,195 (GRCm39)	E1072V	probably damaging	Het
Zfat	T	C	15: 68,050,762 (GRCm39)	D753G	probably damaging	Het
Zmym2	T	A	14: 57,159,051 (GRCm39)	S609T	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
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
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'- GAGGGGCTAGAATTCCTTTCTC -3'

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

Posted On

2016-05-10