Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01510:Ptpn20'

89196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn20

Ensembl Gene

ENSMUSG00000021940

Gene Name

protein tyrosine phosphatase, non-receptor type 20

Synonyms

typ

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01510

Quality Score

Status

Chromosome

Chromosomal Location

33311164-33362711 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 33360343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022508 (fasta)

Gene Model

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

AlphaFold

O55082

Predicted Effect

probably null
Transcript: ENSMUST00000022508

SMART Domains

Protein: ENSMUSP00000022508
Gene: ENSMUSG00000021940

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,143,979 (GRCm39)	Q6R	probably damaging	Het
Adam5	A	T	8: 25,294,481 (GRCm39)	C373S	probably damaging	Het
Adgre4	T	C	17: 56,125,760 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,768,846 (GRCm39)	M614K	possibly damaging	Het
Amigo2	T	C	15: 97,142,962 (GRCm39)	T487A	probably benign	Het
Asap1	T	C	15: 64,030,777 (GRCm39)	D300G	probably damaging	Het
Atp4a	C	A	7: 30,420,216 (GRCm39)	L788M	probably benign	Het
Bcl3	T	A	7: 19,543,539 (GRCm39)	H309L	probably damaging	Het
Cblc	T	C	7: 19,519,200 (GRCm39)	N376S	probably benign	Het
Cd200r2	A	T	16: 44,729,674 (GRCm39)	I110L	probably benign	Het
Ceacam3	T	C	7: 16,893,767 (GRCm39)	M426T	probably benign	Het
Cep295	G	A	9: 15,265,922 (GRCm39)	R29*	probably null	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ctps1	G	T	4: 120,416,041 (GRCm39)	T194K	probably damaging	Het
Cul3	A	G	1: 80,260,396 (GRCm39)	S318P	probably damaging	Het
Fasl	A	T	1: 161,609,522 (GRCm39)	S155T	possibly damaging	Het
Gldc	C	T	19: 30,091,121 (GRCm39)		probably null	Het
Gpr21	T	A	2: 37,408,433 (GRCm39)	C326*	probably null	Het
Gtf2a1	A	G	12: 91,534,607 (GRCm39)	S216P	probably benign	Het
Hoxb5	A	T	11: 96,194,818 (GRCm39)	S127C	possibly damaging	Het
Htt	A	T	5: 35,064,856 (GRCm39)	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,055,700 (GRCm39)	H855L	possibly damaging	Het
Lars1	T	C	18: 42,375,174 (GRCm39)	I289V	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Mapk7	A	T	11: 61,381,986 (GRCm39)	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307 (GRCm39)	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Naprt	A	G	15: 75,762,837 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,403 (GRCm39)	Y199C	probably damaging	Het
Or7e166	A	T	9: 19,624,575 (GRCm39)	I151F	probably benign	Het
Or8g51	T	C	9: 38,609,201 (GRCm39)	I158V	probably benign	Het
Phip	T	A	9: 82,795,924 (GRCm39)	I566F	probably benign	Het
Pnpla3	T	A	15: 84,055,273 (GRCm39)		probably benign	Het
Ptpn13	C	T	5: 103,710,166 (GRCm39)	T1567I	probably damaging	Het
Ptprq	G	T	10: 107,547,909 (GRCm39)	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,955,794 (GRCm39)	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,795,678 (GRCm39)	S127P	probably damaging	Het
Tcerg1l	A	T	7: 137,996,034 (GRCm39)		probably benign	Het
Thbd	C	T	2: 148,248,894 (GRCm39)	V325M	probably damaging	Het
Trim37	G	A	11: 87,068,686 (GRCm39)	R344H	probably damaging	Het
Ttn	T	C	2: 76,703,109 (GRCm39)		probably benign	Het
Uvrag	G	A	7: 98,653,796 (GRCm39)	Q65*	probably null	Het
Wrap53	G	A	11: 69,453,566 (GRCm39)	S342L	possibly damaging	Het
Zbtb11	T	G	16: 55,810,706 (GRCm39)	V288G	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
R2057:Ptpn20	UTSW	14	33,352,942 (GRCm39)	missense	probably damaging	0.98
R2262:Ptpn20	UTSW	14	33,334,268 (GRCm39)	missense	probably benign
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

Posted On

2013-12-03