Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Ptpn2'

563956

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

045313-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67798581-67857665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67808862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 318 (I318R)

Ref Sequence

ENSEMBL: ENSMUSP00000112675 (fasta)

Gene Model

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

AlphaFold

Q06180

Predicted Effect

probably benign
Transcript: ENSMUST00000025420
AA Change: I318R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025420
Gene: ENSMUSG00000024539
AA Change: I318R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120934
AA Change: I299R

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

SMART Domains

Protein: ENSMUSP00000113182
Gene: ENSMUSG00000024539
AA Change: I299R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122412
AA Change: I318R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112675
Gene: ENSMUSG00000024539
AA Change: I318R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128169

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adamts19	A	T	18: 58,970,974 (GRCm39)	D186V	probably damaging	Het
Agrn	T	C	4: 156,259,063 (GRCm39)	D884G	probably damaging	Het
Akr1c6	T	A	13: 4,497,019 (GRCm39)	C154S	probably damaging	Het
Apob	T	C	12: 8,057,037 (GRCm39)	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,269,200 (GRCm39)	E399G	possibly damaging	Het
Arg2	G	A	12: 79,197,572 (GRCm39)	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,119,481 (GRCm39)	V308A	probably damaging	Het
Atcay	A	T	10: 81,046,366 (GRCm39)	C319*	probably null	Het
Bend4	C	G	5: 67,584,876 (GRCm39)	R16P	unknown	Het
Braf	A	G	6: 39,654,504 (GRCm39)		probably null	Het
Camsap1	T	C	2: 25,828,898 (GRCm39)	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,693,494 (GRCm39)	G11D	probably damaging	Het
Cgn	T	C	3: 94,683,509 (GRCm39)	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,640,322 (GRCm39)	E294D	probably benign	Het
Cnn1	T	A	9: 22,019,513 (GRCm39)	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,134,646 (GRCm39)	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 26,857,144 (GRCm39)	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,051,511 (GRCm39)	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dgkb	T	C	12: 38,031,985 (GRCm39)	S16P	possibly damaging	Het
Dll4	T	C	2: 119,162,773 (GRCm39)	C465R	probably damaging	Het
Dsp	A	G	13: 38,377,524 (GRCm39)	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,681,370 (GRCm39)	N250S	probably benign	Het
Fsip2	G	A	2: 82,809,425 (GRCm39)	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319 (GRCm39)	V704M	probably damaging	Het
Hgf	T	A	5: 16,798,942 (GRCm39)	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,614,116 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,132,813 (GRCm39)	S204P	probably damaging	Het
Igsf10	T	A	3: 59,226,875 (GRCm39)	N2266I	probably damaging	Het
Krtap15-1	A	G	16: 88,625,982 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,408,423 (GRCm39)	D1751G	probably damaging	Het
Madd	A	T	2: 90,992,521 (GRCm39)	D1050E	probably benign	Het
Man1c1	C	T	4: 134,308,147 (GRCm39)	G323R	probably damaging	Het
Mgll	A	G	6: 88,800,357 (GRCm39)	E252G	probably benign	Het
Muc2	A	G	7: 141,278,965 (GRCm39)	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,218,599 (GRCm39)	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965 (GRCm38)	T384A	probably benign	Het
Nexn	T	C	3: 151,952,832 (GRCm39)	E310G	probably damaging	Het
Nol10	T	C	12: 17,452,108 (GRCm39)	L354P	probably damaging	Het
Npy4r	T	C	14: 33,868,872 (GRCm39)	R139G	probably damaging	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or14c44	T	C	7: 86,062,209 (GRCm39)	V213A	probably benign	Het
Or52a33	C	T	7: 103,288,909 (GRCm39)	G146D	probably damaging	Het
Or8j3c	G	A	2: 86,253,940 (GRCm39)	L27F	probably benign	Het
Pdzd8	A	T	19: 59,289,077 (GRCm39)	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pot1a	T	C	6: 25,752,497 (GRCm39)		probably null	Het
Ppip5k1	T	A	2: 121,178,052 (GRCm39)	E283D	probably benign	Het
Raph1	A	G	1: 60,529,027 (GRCm39)	F745L	unknown	Het
Rgs19	C	T	2: 181,331,541 (GRCm39)	V88I	probably benign	Het
Ripk4	A	G	16: 97,544,449 (GRCm39)	S733P	probably benign	Het
Rprd1b	T	A	2: 157,870,899 (GRCm39)	W29R	probably damaging	Het
Rtkn	A	G	6: 83,112,943 (GRCm39)	N5S	probably damaging	Het
Sh3bp5l	A	T	11: 58,232,128 (GRCm39)	Q131L	probably damaging	Het
Slain2	T	A	5: 73,131,891 (GRCm39)	F461I	possibly damaging	Het
Stk24	A	T	14: 121,545,434 (GRCm39)	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,927,830 (GRCm39)		probably null	Het
Tapbpl	A	T	6: 125,203,558 (GRCm39)	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,698,341 (GRCm39)	I18V	possibly damaging	Het
Tecta	T	A	9: 42,299,048 (GRCm39)	I233F	probably damaging	Het
Tet3	A	G	6: 83,381,038 (GRCm39)	S377P	probably benign	Het
Uty	A	G	Y: 1,154,262 (GRCm39)	S721P	probably benign	Het
Wnk4	C	A	11: 101,155,979 (GRCm39)	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 74,140,216 (GRCm39)	V336L	probably benign	Het
Zfp605	T	A	5: 110,275,826 (GRCm39)	S315T	probably damaging	Het
Zfp746	A	G	6: 48,041,811 (GRCm39)	L305P	probably 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
R6909:Ptpn2	UTSW	18	67,809,041 (GRCm39)	splice site	probably null
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'- ACCGGCTTTCTTATGATGACG -3'
(R):5'- CCCTGCCTCATATTGAGTAATTGC -3'

Sequencing Primer
(F):5'- CCGGCTTTCTTATGATGACGGAAAAC -3'
(R):5'- GCCTCATATTGAGTAATTGCAATTTG -3'

Posted On

2019-06-26