Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02087:Ptpn3'

279287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn3

Ensembl Gene

ENSMUSG00000038764

Gene Name

protein tyrosine phosphatase, non-receptor type 3

Synonyms

9530011I20Rik, PTP-H1, PTPCL

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.632) question?

Stock #

IGL02087

Quality Score

Status

Chromosome

Chromosomal Location

57190841-57301837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57222019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 557 (D557E)

Ref Sequence

ENSEMBL: ENSMUSP00000075063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075637]

AlphaFold

A2ALK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000075637
AA Change: D557E

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

SMART Domains

Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: D557E

Domain	Start	End	E-Value	Type
B41	25	222	2.44e-67	SMART
FERM_C	226	316	2.64e-25	SMART
low complexity region	454	470	N/A	INTRINSIC
PDZ	519	598	1.65e-15	SMART
PTPc	645	903	5.66e-117	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123664

Coding Region Coverage

Validation Efficiency

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. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asl	C	T	5: 130,040,442 (GRCm39)	W450*	probably null	Het
Copg1	T	C	6: 87,879,192 (GRCm39)	Y413H	possibly damaging	Het
Ctsll3	G	T	13: 60,947,423 (GRCm39)	H254Q	possibly damaging	Het
Ebf2	A	G	14: 67,665,545 (GRCm39)	T568A	probably benign	Het
Etnppl	C	A	3: 130,420,194 (GRCm39)	S8R	probably benign	Het
Fry	C	A	5: 150,327,059 (GRCm39)	N1248K	probably benign	Het
Gpr55	A	C	1: 85,868,969 (GRCm39)	I204S	probably damaging	Het
Hyal5	T	A	6: 24,876,724 (GRCm39)	M199K	probably damaging	Het
Ighg2c	T	C	12: 113,248,986 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,122,413 (GRCm39)	D542G	probably damaging	Het
Itgb2	T	G	10: 77,395,530 (GRCm39)	Y544D	possibly damaging	Het
Lamb2	A	G	9: 108,364,318 (GRCm39)	N1086D	possibly damaging	Het
Lhx2	C	T	2: 38,258,849 (GRCm39)		probably benign	Het
Nlrp4c	T	G	7: 6,095,582 (GRCm39)	L820R	probably damaging	Het
Or5p68	T	A	7: 107,946,173 (GRCm39)	H5L	probably benign	Het
Phf20l1	C	T	15: 66,500,840 (GRCm39)	S578F	probably damaging	Het
Pramel23	A	T	4: 143,423,644 (GRCm39)	Y382N	probably damaging	Het
Slc6a6	G	A	6: 91,712,160 (GRCm39)	V230I	probably benign	Het
Stap2	T	C	17: 56,312,473 (GRCm39)	H20R	probably damaging	Het
Sult1c2	T	C	17: 54,279,068 (GRCm39)	T83A	possibly damaging	Het
Tspyl2	A	T	X: 151,122,103 (GRCm39)	D501E	probably damaging	Het
Unc13b	A	G	4: 43,091,270 (GRCm39)	K32R	probably null	Het
Wnt3	G	A	11: 103,703,185 (GRCm39)	A223T	probably benign	Het
Zfpm2	A	T	15: 40,966,517 (GRCm39)	N869Y	probably damaging	Het
Zranb1	T	C	7: 132,575,146 (GRCm39)		probably benign	Het

Other mutations in Ptpn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Ptpn3	APN	4	57,270,050 (GRCm39)	missense	possibly damaging	0.95
IGL01090:Ptpn3	APN	4	57,240,833 (GRCm39)	missense	probably damaging	1.00
IGL01399:Ptpn3	APN	4	57,225,775 (GRCm39)	missense	probably benign	0.01
IGL01413:Ptpn3	APN	4	57,270,156 (GRCm39)	missense	probably damaging	0.96
IGL01418:Ptpn3	APN	4	57,270,156 (GRCm39)	missense	probably damaging	0.96
IGL01806:Ptpn3	APN	4	57,254,915 (GRCm39)	critical splice donor site	probably null
IGL01933:Ptpn3	APN	4	57,197,576 (GRCm39)	missense	probably benign	0.00
IGL02269:Ptpn3	APN	4	57,197,510 (GRCm39)	missense	possibly damaging	0.72
IGL02413:Ptpn3	APN	4	57,205,020 (GRCm39)	missense	probably damaging	1.00
IGL03163:Ptpn3	APN	4	57,222,020 (GRCm39)	missense	probably damaging	1.00
R0179:Ptpn3	UTSW	4	57,270,118 (GRCm39)	missense	probably benign	0.00
R0240:Ptpn3	UTSW	4	57,232,374 (GRCm39)	missense	probably benign
R0240:Ptpn3	UTSW	4	57,232,374 (GRCm39)	missense	probably benign
R0310:Ptpn3	UTSW	4	57,204,958 (GRCm39)	missense	probably benign	0.00
R0492:Ptpn3	UTSW	4	57,194,304 (GRCm39)	missense	probably benign
R0631:Ptpn3	UTSW	4	57,204,921 (GRCm39)	missense	probably damaging	0.99
R0656:Ptpn3	UTSW	4	57,270,075 (GRCm39)	missense	probably benign	0.41
R1443:Ptpn3	UTSW	4	57,225,775 (GRCm39)	missense	probably benign	0.01
R1741:Ptpn3	UTSW	4	57,254,922 (GRCm39)	missense	probably damaging	1.00
R1856:Ptpn3	UTSW	4	57,239,682 (GRCm39)	missense	probably damaging	1.00
R3753:Ptpn3	UTSW	4	57,270,144 (GRCm39)	missense	probably damaging	1.00
R4431:Ptpn3	UTSW	4	57,235,355 (GRCm39)	missense	probably damaging	0.97
R4704:Ptpn3	UTSW	4	57,270,119 (GRCm39)	missense	possibly damaging	0.79
R4935:Ptpn3	UTSW	4	57,197,568 (GRCm39)	missense	probably damaging	1.00
R5119:Ptpn3	UTSW	4	57,218,513 (GRCm39)	missense	possibly damaging	0.93
R5410:Ptpn3	UTSW	4	57,205,019 (GRCm39)	missense	probably damaging	1.00
R5554:Ptpn3	UTSW	4	57,240,843 (GRCm39)	missense	probably damaging	0.99
R6024:Ptpn3	UTSW	4	57,248,653 (GRCm39)	splice site	probably null
R6061:Ptpn3	UTSW	4	57,248,681 (GRCm39)	missense	probably damaging	1.00
R6212:Ptpn3	UTSW	4	57,270,070 (GRCm39)	missense	probably damaging	1.00
R6213:Ptpn3	UTSW	4	57,265,012 (GRCm39)	missense	probably damaging	1.00
R6239:Ptpn3	UTSW	4	57,249,981 (GRCm39)	missense	probably benign
R6444:Ptpn3	UTSW	4	57,195,730 (GRCm39)	missense	possibly damaging	0.51
R6606:Ptpn3	UTSW	4	57,265,104 (GRCm39)	splice site	probably null
R6656:Ptpn3	UTSW	4	57,205,905 (GRCm39)	missense	probably damaging	0.99
R6730:Ptpn3	UTSW	4	57,270,088 (GRCm39)	missense	probably benign
R7133:Ptpn3	UTSW	4	57,225,863 (GRCm39)	missense	probably benign	0.30
R7231:Ptpn3	UTSW	4	57,245,062 (GRCm39)	missense	probably damaging	1.00
R7237:Ptpn3	UTSW	4	57,239,625 (GRCm39)	missense	probably damaging	1.00
R7368:Ptpn3	UTSW	4	57,221,993 (GRCm39)	missense	probably damaging	1.00
R7604:Ptpn3	UTSW	4	57,240,845 (GRCm39)	missense	probably damaging	0.99
R7742:Ptpn3	UTSW	4	57,265,092 (GRCm39)	critical splice acceptor site	probably null
R8023:Ptpn3	UTSW	4	57,248,688 (GRCm39)	missense	probably benign	0.02
R8099:Ptpn3	UTSW	4	57,204,985 (GRCm39)	nonsense	probably null
R8155:Ptpn3	UTSW	4	57,232,336 (GRCm39)	missense	probably benign
R8302:Ptpn3	UTSW	4	57,218,514 (GRCm39)	missense	probably benign	0.01
R8315:Ptpn3	UTSW	4	57,270,063 (GRCm39)	missense	possibly damaging	0.88
R8335:Ptpn3	UTSW	4	57,235,286 (GRCm39)	missense	probably damaging	0.99
R8346:Ptpn3	UTSW	4	57,225,547 (GRCm39)	missense	probably damaging	0.99
R8348:Ptpn3	UTSW	4	57,240,784 (GRCm39)	critical splice donor site	probably null
R8448:Ptpn3	UTSW	4	57,240,784 (GRCm39)	critical splice donor site	probably null
R8513:Ptpn3	UTSW	4	57,270,085 (GRCm39)	nonsense	probably null
R8846:Ptpn3	UTSW	4	57,205,020 (GRCm39)	missense	probably damaging	1.00
R9244:Ptpn3	UTSW	4	57,254,915 (GRCm39)	critical splice donor site	probably null
R9337:Ptpn3	UTSW	4	57,218,521 (GRCm39)	missense	probably damaging	0.96
R9478:Ptpn3	UTSW	4	57,197,573 (GRCm39)	missense	probably damaging	1.00
R9500:Ptpn3	UTSW	4	57,205,914 (GRCm39)	missense	possibly damaging	0.83
R9710:Ptpn3	UTSW	4	57,249,957 (GRCm39)	nonsense	probably null

Posted On

2015-04-16