Mutagenetix > Incidental Mutation

Incidental Mutation 'R2262:Ptpn20'

243896

Institutional Source

Beutler Lab

Gene Symbol

Ptpn20

Ensembl Gene

ENSMUSG00000021940

Gene Name

protein tyrosine phosphatase, non-receptor type 20

Synonyms

typ

MMRRC Submission

040262-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33311164-33362711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33334268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 49 (M49V)

Ref Sequence

ENSEMBL: ENSMUSP00000153829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022508] [ENSMUST00000226512] [ENSMUST00000227887]

AlphaFold

O55082

Predicted Effect

probably benign
Transcript: ENSMUST00000022508
AA Change: M49V

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

SMART Domains

Protein: ENSMUSP00000022508
Gene: ENSMUSG00000021940
AA Change: M49V

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PTPc	164	420	1.12e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226512
AA Change: M49V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227887

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	A	G	4: 132,790,474 (GRCm39)	T572A	unknown	Het
Bco1	T	C	8: 117,859,764 (GRCm39)	L489S	probably damaging	Het
Brinp1	A	G	4: 68,747,591 (GRCm39)	Y171H	probably damaging	Het
C1rl	A	T	6: 124,483,907 (GRCm39)	I186F	probably damaging	Het
Cacna1d	A	G	14: 30,212,973 (GRCm39)	V29A	possibly damaging	Het
Calcrl	T	C	2: 84,175,517 (GRCm39)	D279G	probably damaging	Het
Cass4	T	C	2: 172,269,174 (GRCm39)	S421P	probably damaging	Het
Casz1	G	T	4: 149,013,556 (GRCm39)	R40L	probably damaging	Het
Cdh23	A	G	10: 60,152,907 (GRCm39)	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,047,820 (GRCm39)	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,743,191 (GRCm39)	M142K	probably damaging	Het
Cfap161	C	T	7: 83,442,580 (GRCm39)	V78I	probably benign	Het
Chst8	T	A	7: 34,375,435 (GRCm39)	M135L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,507,622 (GRCm39)	E917K	probably damaging	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,892,809 (GRCm39)	N798S	probably damaging	Het
Dnajc3	A	G	14: 119,198,232 (GRCm39)	Q118R	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Fnbp4	G	T	2: 90,587,748 (GRCm39)	L375F	probably damaging	Het
Gbp8	T	C	5: 105,163,999 (GRCm39)	Q433R	possibly damaging	Het
Glt1d1	A	G	5: 127,734,176 (GRCm39)	M117V	probably benign	Het
Hcar1	A	C	5: 124,016,649 (GRCm39)	D347E	probably benign	Het
Kif16b	T	C	2: 142,582,837 (GRCm39)	K563E	probably damaging	Het
Klra17	A	G	6: 129,851,757 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,986,593 (GRCm39)	M140I	probably benign	Het
Lamb2	A	T	9: 108,357,809 (GRCm39)	I111F	probably damaging	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Noa1	G	A	5: 77,457,651 (GRCm39)	Q85*	probably null	Het
Nsun4	A	T	4: 115,910,147 (GRCm39)	S138T	probably benign	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pde1a	T	A	2: 79,959,275 (GRCm39)		probably benign	Het
Pdgfra	T	C	5: 75,346,184 (GRCm39)	V778A	probably benign	Het
Plekhj1	A	T	10: 80,632,306 (GRCm39)	N55K	probably benign	Het
Rbm6	A	G	9: 107,668,289 (GRCm39)	L547P	probably damaging	Het
Rexo1	C	T	10: 80,385,403 (GRCm39)	E552K	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,397,212 (GRCm39)	D109N	probably damaging	Het
Setd2	A	G	9: 110,390,311 (GRCm39)		probably benign	Het
Slc22a28	T	C	19: 8,048,573 (GRCm39)	Y358C	probably benign	Het
Sptbn4	T	A	7: 27,133,782 (GRCm39)	D77V	probably damaging	Het
Ssh1	T	C	5: 114,080,764 (GRCm39)	S867G	possibly damaging	Het
Stmn2	T	C	3: 8,606,955 (GRCm39)	F25S	probably damaging	Het
Tcirg1	C	T	19: 3,953,591 (GRCm39)	R112H	possibly damaging	Het
Tekt4	T	A	17: 25,695,485 (GRCm39)	S439R	possibly damaging	Het
Trpc1	T	A	9: 95,588,986 (GRCm39)	N746I	probably damaging	Het
Tuba1c	A	G	15: 98,935,757 (GRCm39)	H406R	probably damaging	Het
Uqcrfs1	G	A	13: 30,725,090 (GRCm39)	S150L	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Vmn1r68	T	C	7: 10,261,372 (GRCm39)	E242G	probably damaging	Het
Vmn2r29	T	A	7: 7,243,085 (GRCm39)	H22L	possibly damaging	Het
Vmn2r32	T	A	7: 7,477,618 (GRCm39)	I258L	probably benign	Het
Vmn2r37	T	A	7: 9,220,943 (GRCm39)	T307S	probably damaging	Het
Vmn2r6	T	C	3: 64,464,090 (GRCm39)	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Vmn2r67	T	C	7: 84,786,182 (GRCm39)	T608A	probably damaging	Het
Wdr87-ps	T	C	7: 29,231,987 (GRCm39)		noncoding transcript	Het
Xpo1	T	A	11: 23,234,634 (GRCm39)		probably null	Het
Zfp180	T	G	7: 23,804,049 (GRCm39)	V156G	probably benign	Het
Zfp37	A	T	4: 62,109,873 (GRCm39)	L397Q	probably damaging	Het

Other mutations in Ptpn20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Ptpn20	APN	14	33,344,576 (GRCm39)	missense	probably benign	0.22
IGL01510:Ptpn20	APN	14	33,360,343 (GRCm39)	splice site	probably null
R2057:Ptpn20	UTSW	14	33,352,942 (GRCm39)	missense	probably damaging	0.98
R3106:Ptpn20	UTSW	14	33,334,253 (GRCm39)	missense	probably benign
R3430:Ptpn20	UTSW	14	33,336,485 (GRCm39)	missense	possibly damaging	0.61
R4645:Ptpn20	UTSW	14	33,353,169 (GRCm39)	missense	probably benign
R4928:Ptpn20	UTSW	14	33,336,446 (GRCm39)	missense	probably benign	0.00
R4962:Ptpn20	UTSW	14	33,336,416 (GRCm39)	missense	probably benign	0.02
R5087:Ptpn20	UTSW	14	33,336,398 (GRCm39)	missense	possibly damaging	0.90
R5163:Ptpn20	UTSW	14	33,353,068 (GRCm39)	missense	probably benign	0.07
R5275:Ptpn20	UTSW	14	33,353,149 (GRCm39)	missense	probably benign	0.00
R6325:Ptpn20	UTSW	14	33,352,962 (GRCm39)	missense	possibly damaging	0.52
R6651:Ptpn20	UTSW	14	33,354,897 (GRCm39)	missense	probably damaging	1.00
R6831:Ptpn20	UTSW	14	33,354,882 (GRCm39)	missense	probably damaging	1.00
R6903:Ptpn20	UTSW	14	33,336,461 (GRCm39)	missense	probably damaging	0.98
R7034:Ptpn20	UTSW	14	33,336,392 (GRCm39)	makesense	probably null
R7036:Ptpn20	UTSW	14	33,336,392 (GRCm39)	makesense	probably null
R7265:Ptpn20	UTSW	14	33,336,481 (GRCm39)	missense	probably benign	0.05
R7654:Ptpn20	UTSW	14	33,360,281 (GRCm39)	missense	probably benign	0.18
R7735:Ptpn20	UTSW	14	33,352,902 (GRCm39)	missense	probably damaging	1.00
R7761:Ptpn20	UTSW	14	33,344,509 (GRCm39)	missense	probably benign	0.18
R8314:Ptpn20	UTSW	14	33,344,504 (GRCm39)	missense	possibly damaging	0.73
R9356:Ptpn20	UTSW	14	33,352,865 (GRCm39)	nonsense	probably null
R9690:Ptpn20	UTSW	14	33,353,176 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CTGCACTCTATTTTGGAAAATTGGG -3'
(R):5'- CATTAAGGGTCACTGAGCACCG -3'

Sequencing Primer
(F):5'- TGCTAAGTCAATGTACATTTCAAGTG -3'
(R):5'- TGAGCACCGTCTCCATTTAGAGG -3'

Posted On

2014-10-16