Mutagenetix > Incidental Mutation

Incidental Mutation 'R8418:Ptpn2'

653065

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

067897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67798581-67857665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67814592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 139 (T139M)

Ref Sequence

ENSEMBL: ENSMUSP00000112675 (fasta)

Gene Model

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

AlphaFold

Q06180

Predicted Effect

probably damaging
Transcript: ENSMUST00000025420
AA Change: T139M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025420
Gene: ENSMUSG00000024539
AA Change: T139M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120934
AA Change: T139M

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113182
Gene: ENSMUSG00000024539
AA Change: T139M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122412
AA Change: T139M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112675
Gene: ENSMUSG00000024539
AA Change: T139M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 43,021,477 (GRCm39)	H449R	probably benign	Het
Arfgef2	T	C	2: 166,698,468 (GRCm39)	V646A	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc62	C	T	5: 124,084,455 (GRCm39)	R279*	probably null	Het
Cimip2b	A	G	4: 43,427,204 (GRCm39)	L76P	unknown	Het
Col6a5	G	T	9: 105,755,821 (GRCm39)	P2201Q	probably damaging	Het
Cpa3	T	C	3: 20,276,315 (GRCm39)	Y306C	probably damaging	Het
Cpne9	A	G	6: 113,260,398 (GRCm39)	N82D	possibly damaging	Het
Dcaf17	T	A	2: 70,918,717 (GRCm39)	D430E	probably damaging	Het
Dcst2	T	C	3: 89,278,901 (GRCm39)	V546A	probably benign	Het
Dennd1a	T	C	2: 37,748,403 (GRCm39)	T359A	probably benign	Het
Dgkb	C	A	12: 38,380,016 (GRCm39)	H591N	probably damaging	Het
Dnah17	G	A	11: 117,994,284 (GRCm39)	S1047F	probably benign	Het
Dock2	A	G	11: 34,609,795 (GRCm39)	I215T	probably benign	Het
Efcab12	A	G	6: 115,799,076 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,415,378 (GRCm39)	R165C		Het
Gabrr1	C	T	4: 33,162,615 (GRCm39)	R394*	probably null	Het
Garnl3	G	T	2: 32,942,158 (GRCm39)	Q153K	possibly damaging	Het
Gars1	A	G	6: 55,042,446 (GRCm39)	N393S	probably damaging	Het
Gbp2b	A	T	3: 142,309,466 (GRCm39)	E192D	probably benign	Het
Gm28360	A	T	1: 117,781,357 (GRCm39)	H116L	probably benign	Het
Gm9602	T	A	14: 15,935,348 (GRCm39)		probably benign	Het
Gp1bb	T	A	16: 18,440,103 (GRCm39)	H5L	unknown	Het
Grik3	A	G	4: 125,579,835 (GRCm39)	K527E	possibly damaging	Het
Hhip	T	C	8: 80,771,714 (GRCm39)	M199V	probably damaging	Het
Irgm1	A	G	11: 48,757,166 (GRCm39)	V231A	probably damaging	Het
Itgal	A	T	7: 126,929,454 (GRCm39)	I1124F	probably benign	Het
Kash5	A	G	7: 44,843,501 (GRCm39)	L241P	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Miga1	T	G	3: 151,990,954 (GRCm39)	Y433S	probably damaging	Het
Muc16	A	T	9: 18,430,926 (GRCm39)	I8062K	possibly damaging	Het
Ntsr2	T	G	12: 16,706,662 (GRCm39)	V230G	possibly damaging	Het
Or52ab2	A	G	7: 102,970,278 (GRCm39)	Y220C		Het
Pum2	T	A	12: 8,760,245 (GRCm39)	D145E	possibly damaging	Het
Radil	T	C	5: 142,480,676 (GRCm39)	E593G	probably benign	Het
Rdh14	T	C	12: 10,444,580 (GRCm39)	F144L	probably damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Serpina6	T	C	12: 103,613,187 (GRCm39)	Y371C	probably damaging	Het
Snx13	T	A	12: 35,148,233 (GRCm39)	I254N	probably damaging	Het
Tacc1	T	C	8: 25,731,532 (GRCm39)	K7E	probably damaging	Het
Thoc2l	C	A	5: 104,667,724 (GRCm39)	Q749K	possibly damaging	Het
Timeless	A	C	10: 128,086,605 (GRCm39)	N1048T	probably benign	Het
Tll2	C	A	19: 41,081,276 (GRCm39)	E732D	probably damaging	Het
Tmem171	A	G	13: 98,828,740 (GRCm39)	S137P	probably damaging	Het
Ttll3	A	T	6: 113,371,734 (GRCm39)	M44L	probably benign	Het
Vmn2r29	T	A	7: 7,244,939 (GRCm39)	I312L	probably benign	Het
Vmn2r43	A	T	7: 8,258,583 (GRCm39)	L210*	probably null	Het
Vmn2r60	A	G	7: 41,844,850 (GRCm39)	I738V	probably damaging	Het
Zfp977	T	A	7: 42,229,410 (GRCm39)	M372L	probably benign	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
R6909:Ptpn2	UTSW	18	67,809,041 (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
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'- TCTGGCCAGGTGGTATAATGGAAG -3'
(R):5'- TGGAAAGGAAACATTTTATGGAGCTAC -3'

Sequencing Primer
(F):5'- TGAACCTGGGCCTTCTACAAG -3'
(R):5'- GGTTTCAGTACTTGGAGAAGT -3'

Posted On

2020-10-20