Mutagenetix > Incidental Mutation

Incidental Mutation 'R5163:Ptpn20'

397120

Institutional Source

Beutler Lab

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 #

R5163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33311164-33362711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33353068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 269 (I269T)

Ref Sequence

ENSEMBL: ENSMUSP00000022508 (fasta)

Gene Model

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

AlphaFold

O55082

Predicted Effect

probably benign
Transcript: ENSMUST00000022508
AA Change: I269T

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022508
Gene: ENSMUSG00000021940
AA Change: I269T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227887

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Btbd19	T	G	4: 116,978,628 (GRCm39)	I152L	probably damaging	Het
Dnaaf11	T	C	15: 66,314,067 (GRCm39)	D311G	probably benign	Het
Dync2i1	C	T	12: 116,219,486 (GRCm39)	R152H	possibly damaging	Het
Ercc6l2	A	G	13: 64,046,845 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,034,946 (GRCm39)	D2866G	probably damaging	Het
Fkbp10	C	T	11: 100,313,925 (GRCm39)	A311V	probably benign	Het
Fnbp1l	T	C	3: 122,338,312 (GRCm39)	N511S	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gltp	A	G	5: 114,812,122 (GRCm39)	I147T	probably benign	Het
Gpr37	A	T	6: 25,669,614 (GRCm39)	I410N	possibly damaging	Het
Hivep2	G	A	10: 14,015,169 (GRCm39)	G1779R	probably damaging	Het
Ifna14	T	C	4: 88,489,599 (GRCm39)	Y146C	probably damaging	Het
Loxhd1	A	G	18: 77,449,432 (GRCm39)	D662G	possibly damaging	Het
Lrrc9	A	T	12: 72,496,163 (GRCm39)	I13F	probably damaging	Het
Map2k3	T	A	11: 60,834,317 (GRCm39)	I95N	probably damaging	Het
Mark1	A	G	1: 184,637,807 (GRCm39)	I594T	probably damaging	Het
Mettl14	T	C	3: 123,168,474 (GRCm39)	I189V	possibly damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Odf4	C	A	11: 68,813,672 (GRCm39)	C133F	probably damaging	Het
Opa1	A	T	16: 29,416,438 (GRCm39)	Q106L	probably damaging	Het
Or10d5j	T	C	9: 39,868,216 (GRCm39)	N5S	probably damaging	Het
Pax4	T	G	6: 28,446,269 (GRCm39)	S75R	probably damaging	Het
Ppfibp1	T	A	6: 146,923,629 (GRCm39)		probably null	Het
Ptprq	T	C	10: 107,360,192 (GRCm39)	Q2161R	probably damaging	Het
Rab22a	A	G	2: 173,503,280 (GRCm39)	D31G	probably damaging	Het
Rap1gds1	A	T	3: 138,664,817 (GRCm39)	M296K	probably damaging	Het
Rfx1	A	G	8: 84,819,840 (GRCm39)	T692A	probably damaging	Het
Sf3b2	A	G	19: 5,325,165 (GRCm39)	V769A	probably damaging	Het
Skint5	A	T	4: 113,652,762 (GRCm39)	F621I	unknown	Het
Spink5	A	C	18: 44,132,924 (GRCm39)	R513S	possibly damaging	Het
Srrm2	C	T	17: 24,038,524 (GRCm39)		probably benign	Het
Srrt	A	G	5: 137,295,035 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,973,295 (GRCm39)	Q134R	possibly damaging	Het
Tpo	A	G	12: 30,155,979 (GRCm39)	V174A	probably benign	Het
Ucp1	A	G	8: 84,020,832 (GRCm39)	R183G	possibly damaging	Het
Vmn2r66	A	G	7: 84,656,017 (GRCm39)	V333A	probably benign	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp936	A	G	7: 42,839,664 (GRCm39)	Q377R	probably damaging	Het
Zkscan2	T	C	7: 123,099,090 (GRCm39)	E34G	probably benign	Het
Zup1	T	A	10: 33,825,439 (GRCm39)	E14D	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
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
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'- TCAACACGTGTTCCTCTTGG -3'
(R):5'- GCTTCATTTCTACATGACAAAGAGG -3'

Sequencing Primer
(F):5'- CAAGGACCATTGCCAGAA -3'
(R):5'- CTGACTGGCCTTGAACTTACAGAG -3'

Posted On

2016-06-21