Mutagenetix > Incidental Mutation

Incidental Mutation 'R6909:Ptpn2'

538958

Institutional Source

Beutler Lab

Gene Symbol

Ptpn2

Ensembl Gene

ENSMUSG00000024539

Gene Name

protein tyrosine phosphatase, non-receptor type 2

Synonyms

Ptpt, TC-PTP

MMRRC Submission

045001-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6909 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

67798581-67857665 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 67809041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025420] [ENSMUST00000120934] [ENSMUST00000122412]

AlphaFold

Q06180

Predicted Effect

probably null
Transcript: ENSMUST00000025420

SMART Domains

Protein: ENSMUSP00000025420
Gene: ENSMUSG00000024539

Domain	Start	End	E-Value	Type
PTPc	17	277	2.56e-115	SMART
Blast:PTPc	287	376	7e-38	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000120934

SMART Domains

Protein: ENSMUSP00000113182
Gene: ENSMUSG00000024539

Domain	Start	End	E-Value	Type
PTPc	17	277	2.56e-115	SMART
Blast:PTPc	284	357	2e-27	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000122412

SMART Domains

Protein: ENSMUSP00000112675
Gene: ENSMUSG00000024539

Domain	Start	End	E-Value	Type
PTPc	17	277	2.56e-115	SMART
Blast:PTPc	287	399	9e-56	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

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. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a reduced life span, abnormalities of the hematopoietic system and an increased succeptibility to inflammatory disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,006,323 (GRCm39)	Q1261K	probably benign	Het
Acp3	T	C	9: 104,178,164 (GRCm39)	Y329C	probably damaging	Het
Agrn	G	T	4: 156,261,464 (GRCm39)	H585N	possibly damaging	Het
Ano1	G	A	7: 144,209,468 (GRCm39)	T211M	probably damaging	Het
Atic	T	G	1: 71,616,005 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,957,781 (GRCm39)	S229R	probably damaging	Het
Ccdc168	C	T	1: 44,098,935 (GRCm39)	R721Q	possibly damaging	Het
Cfap210	A	T	2: 69,612,192 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,425,815 (GRCm39)	Y418C	probably damaging	Het
Cibar1	T	C	4: 12,168,309 (GRCm39)	T97A	probably benign	Het
Cmya5	T	C	13: 93,227,760 (GRCm39)	T2443A	probably benign	Het
Dysf	A	T	6: 84,169,920 (GRCm39)	E1772V	probably damaging	Het
Eps8l1	T	A	7: 4,472,899 (GRCm39)	L107*	probably null	Het
Fpr3	T	A	17: 18,191,429 (GRCm39)	F233L	probably benign	Het
Gjc2	A	T	11: 59,067,918 (GRCm39)	V188E	unknown	Het
Gm45861	T	A	8: 28,017,109 (GRCm39)	Y690N	unknown	Het
Gsdma2	T	A	11: 98,543,383 (GRCm39)	C224*	probably null	Het
Gucy2d	T	A	7: 98,116,832 (GRCm39)	Y881N	probably damaging	Het
Hcn3	A	G	3: 89,059,936 (GRCm39)		probably null	Het
Hectd1	G	T	12: 51,810,945 (GRCm39)		probably null	Het
Ifitm5	A	G	7: 140,529,172 (GRCm39)	F146L	probably benign	Het
Impg2	T	C	16: 56,024,947 (GRCm39)	F18S	probably damaging	Het
Ino80c	T	A	18: 24,241,812 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,569,915 (GRCm39)	H1109R	probably benign	Het
Kdm3b	T	A	18: 34,960,381 (GRCm39)		probably null	Het
Klra8	T	G	6: 130,102,123 (GRCm39)	N104T	probably benign	Het
Llgl2	G	A	11: 115,741,625 (GRCm39)	C585Y	probably damaging	Het
Lmod2	T	A	6: 24,604,157 (GRCm39)	D377E	probably benign	Het
Lrat	G	A	3: 82,810,961 (GRCm39)	S20F	probably damaging	Het
Lrrc43	T	A	5: 123,638,482 (GRCm39)	H363Q	probably benign	Het
Lyst	T	G	13: 13,917,960 (GRCm39)	I3340S	probably damaging	Het
Magi1	C	A	6: 93,674,301 (GRCm39)	G948W	probably damaging	Het
Map3k4	A	C	17: 12,489,872 (GRCm39)	F520V	probably damaging	Het
Mcm4	A	T	16: 15,446,561 (GRCm39)	N607K	probably damaging	Het
Mta3	T	C	17: 84,073,980 (GRCm39)	V216A	possibly damaging	Het
Ncor1	C	A	11: 62,220,312 (GRCm39)	G2131V	probably damaging	Het
Or10ag2	A	G	2: 87,248,959 (GRCm39)	H189R	probably damaging	Het
Or2z9	T	A	8: 72,854,372 (GRCm39)	V256E	possibly damaging	Het
Or5d16	A	G	2: 87,773,034 (GRCm39)	S313P	probably benign	Het
Or9k7	T	A	10: 130,046,622 (GRCm39)	I126L	probably benign	Het
Pramel12	T	C	4: 143,144,479 (GRCm39)	L275P	probably damaging	Het
Scn10a	A	G	9: 119,438,856 (GRCm39)	I1671T	probably damaging	Het
Scyl2	A	T	10: 89,481,604 (GRCm39)	S622T	probably benign	Het
Sim1	C	T	10: 50,785,506 (GRCm39)	R192C	possibly damaging	Het
Skor2	A	G	18: 76,948,252 (GRCm39)	H658R	possibly damaging	Het
Slc10a5	A	G	3: 10,400,655 (GRCm39)	S2P	possibly damaging	Het
Slc37a4	A	T	9: 44,311,331 (GRCm39)	K207N	possibly damaging	Het
Syne2	G	T	12: 76,110,969 (GRCm39)	V5768L	probably benign	Het
Tdpoz3	T	A	3: 93,733,772 (GRCm39)	V149E	probably damaging	Het
Tekt5	T	C	16: 10,176,165 (GRCm39)	N460S	probably damaging	Het
Tk2	G	T	8: 104,963,442 (GRCm39)	Y142*	probably null	Het
Tkfc	T	A	19: 10,573,630 (GRCm39)	Q236L	probably benign	Het
Tln2	G	A	9: 67,299,814 (GRCm39)	T148I	probably damaging	Het
Trim62	A	G	4: 128,778,021 (GRCm39)	D20G	probably damaging	Het
Tspan14	A	C	14: 40,635,398 (GRCm39)	V166G	probably benign	Het
Ttn	A	T	2: 76,712,065 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn2r117	C	G	17: 23,698,479 (GRCm39)	Q31H	possibly damaging	Het
Zfp87	T	C	13: 74,519,861 (GRCm39)	T406A	possibly damaging	Het

Other mutations in Ptpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Ptpn2	APN	18	67,808,862 (GRCm39)	missense	possibly damaging	0.69
IGL01538:Ptpn2	APN	18	67,814,623 (GRCm39)	missense	probably benign	0.00
IGL02999:Ptpn2	APN	18	67,814,580 (GRCm39)	missense	probably damaging	0.99
R2075:Ptpn2	UTSW	18	67,814,545 (GRCm39)	missense	probably damaging	0.97
R2273:Ptpn2	UTSW	18	67,810,872 (GRCm39)	missense	probably damaging	0.99
R2391:Ptpn2	UTSW	18	67,808,959 (GRCm39)	splice site	probably null
R7251:Ptpn2	UTSW	18	67,808,862 (GRCm39)	missense	possibly damaging	0.69
R7979:Ptpn2	UTSW	18	67,814,641 (GRCm39)	missense	possibly damaging	0.94
R8418:Ptpn2	UTSW	18	67,814,592 (GRCm39)	missense	probably damaging	1.00
R8771:Ptpn2	UTSW	18	67,805,659 (GRCm39)	missense	probably benign	0.00
R9469:Ptpn2	UTSW	18	67,808,907 (GRCm39)	missense	probably benign	0.02
R9634:Ptpn2	UTSW	18	67,808,789 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCACATACCTCTCACTGC -3'
(R):5'- AACAGTATATCCTTCCCTGCATCG -3'

Sequencing Primer
(F):5'- ACAGTATCCTGCACCTTAGAAGG -3'
(R):5'- CCATCCGTAATGAGATCTGATGGC -3'

Posted On

2018-11-06