Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03281:Ptpn4'

415595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn4

Ensembl Gene

ENSMUSG00000026384

Gene Name

protein tyrosine phosphatase, non-receptor type 4

Synonyms

testis-enriched phosphatase, protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte), hPTP-MEG, TEP, PTPMEG, TEP/mPTPMEG

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

IGL03281

Quality Score

Status

Chromosome

Chromosomal Location

119580197-119765281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 119587642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 900 (Q900H)

Ref Sequence

ENSEMBL: ENSMUSP00000067614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000166624]

AlphaFold

Q9WU22

Predicted Effect

probably damaging
Transcript: ENSMUST00000064091
AA Change: Q900H

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

SMART Domains

Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: Q900H

Domain	Start	End	E-Value	Type
B41	25	222	7.33e-80	SMART
FERM_C	226	316	6.48e-34	SMART
FA	322	368	3.28e-12	SMART
PDZ	526	605	2.47e-14	SMART
PTPc	654	913	1.38e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166624

SMART Domains

Protein: ENSMUSP00000126216
Gene: ENSMUSG00000026384

Domain	Start	End	E-Value	Type
Blast:PTPc	1	65	1e-34	BLAST
PDB:2I75\|A	15	67	2e-28	PDB

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. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,601 (GRCm39)	R361H	probably benign	Het
Abcd2	G	T	15: 91,035,876 (GRCm39)	T663K	probably damaging	Het
Btbd8	A	T	5: 107,651,742 (GRCm39)	T212S	probably benign	Het
Bud23	C	T	5: 135,092,741 (GRCm39)	R28H	probably benign	Het
Celsr2	T	C	3: 108,320,256 (GRCm39)	Y852C	probably damaging	Het
Dll1	C	A	17: 15,593,866 (GRCm39)	R167L	probably benign	Het
Hmgxb4	A	G	8: 75,750,790 (GRCm39)	T538A	probably damaging	Het
Hrh4	T	C	18: 13,155,526 (GRCm39)	V355A	possibly damaging	Het
Hrnr	A	T	3: 93,230,158 (GRCm39)	E132V	probably benign	Het
Ighv7-1	A	T	12: 113,860,571 (GRCm39)		probably benign	Het
Kcnu1	A	T	8: 26,382,105 (GRCm39)	Q485L	probably null	Het
Lrp1b	T	A	2: 40,615,526 (GRCm39)	M3626L	probably benign	Het
Magea6	G	T	X: 153,707,623 (GRCm39)	C144*	probably null	Het
Map1a	G	T	2: 121,135,541 (GRCm39)	R1881L	probably damaging	Het
Naip2	T	A	13: 100,298,128 (GRCm39)	Y636F	probably damaging	Het
Or12j5	T	A	7: 140,083,713 (GRCm39)	I220F	probably damaging	Het
Or6c2	T	A	10: 129,362,272 (GRCm39)	F59I	probably benign	Het
Prg4	A	G	1: 150,325,839 (GRCm39)		probably benign	Het
Ralgps1	A	G	2: 33,062,428 (GRCm39)		probably null	Het
Rasgrp4	C	T	7: 28,845,450 (GRCm39)	A381V	possibly damaging	Het
Selenbp1	A	T	3: 94,844,621 (GRCm39)	K93*	probably null	Het
Skint5	T	A	4: 113,524,415 (GRCm39)	K855N	unknown	Het
Tssk4	T	C	14: 55,887,885 (GRCm39)	V27A	possibly damaging	Het
Ttc39a	C	A	4: 109,290,219 (GRCm39)	Q310K	possibly damaging	Het
Utp18	C	T	11: 93,766,784 (GRCm39)	V276I	probably damaging	Het
Vmn2r45	C	A	7: 8,486,603 (GRCm39)	L228F	probably damaging	Het

Other mutations in Ptpn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Ptpn4	APN	1	119,587,655 (GRCm39)	splice site	probably benign
IGL00885:Ptpn4	APN	1	119,730,093 (GRCm39)	missense	possibly damaging	0.95
IGL00973:Ptpn4	APN	1	119,669,101 (GRCm39)	missense	probably benign	0.00
IGL01867:Ptpn4	APN	1	119,603,329 (GRCm39)	missense	probably benign
IGL01870:Ptpn4	APN	1	119,603,277 (GRCm39)	critical splice donor site	probably null
IGL02101:Ptpn4	APN	1	119,615,408 (GRCm39)	missense	probably damaging	1.00
IGL02344:Ptpn4	APN	1	119,700,990 (GRCm39)	missense	probably damaging	1.00
IGL02348:Ptpn4	APN	1	119,610,452 (GRCm39)	missense	probably damaging	1.00
IGL02693:Ptpn4	APN	1	119,643,699 (GRCm39)	missense	probably damaging	0.96
alto	UTSW	1	119,612,311 (GRCm39)	nonsense	probably null
blinding	UTSW	1	119,649,592 (GRCm39)	critical splice donor site	probably null
botched	UTSW	1	119,671,120 (GRCm39)	missense	probably damaging	1.00
bungled	UTSW	1	119,615,335 (GRCm39)	splice site	probably null
Fovea	UTSW	1	119,606,552 (GRCm39)	missense	possibly damaging	0.81
hash	UTSW	1	119,693,649 (GRCm39)	nonsense	probably null
Hoechter	UTSW	1	119,607,789 (GRCm39)	missense	probably damaging	1.00
Lumens	UTSW	1	119,595,278 (GRCm39)	missense	probably damaging	1.00
BB008:Ptpn4	UTSW	1	119,607,925 (GRCm39)	missense	probably damaging	0.98
BB018:Ptpn4	UTSW	1	119,607,925 (GRCm39)	missense	probably damaging	0.98
R0105:Ptpn4	UTSW	1	119,615,335 (GRCm39)	splice site	probably null
R0105:Ptpn4	UTSW	1	119,615,335 (GRCm39)	splice site	probably null
R0504:Ptpn4	UTSW	1	119,693,645 (GRCm39)	missense	probably damaging	1.00
R1148:Ptpn4	UTSW	1	119,612,270 (GRCm39)	missense	probably damaging	0.99
R1148:Ptpn4	UTSW	1	119,612,270 (GRCm39)	missense	probably damaging	0.99
R1148:Ptpn4	UTSW	1	119,603,439 (GRCm39)	splice site	probably benign
R1662:Ptpn4	UTSW	1	119,692,788 (GRCm39)	missense	probably damaging	0.96
R1694:Ptpn4	UTSW	1	119,711,240 (GRCm39)	missense	probably damaging	0.99
R1733:Ptpn4	UTSW	1	119,643,773 (GRCm39)	splice site	probably null
R2083:Ptpn4	UTSW	1	119,615,489 (GRCm39)	missense	possibly damaging	0.63
R2226:Ptpn4	UTSW	1	119,610,515 (GRCm39)	missense	probably damaging	1.00
R2276:Ptpn4	UTSW	1	119,612,321 (GRCm39)	missense	probably damaging	1.00
R2277:Ptpn4	UTSW	1	119,612,321 (GRCm39)	missense	probably damaging	1.00
R3123:Ptpn4	UTSW	1	119,693,153 (GRCm39)	splice site	probably null
R3425:Ptpn4	UTSW	1	119,635,560 (GRCm39)	missense	probably benign	0.02
R4568:Ptpn4	UTSW	1	119,607,789 (GRCm39)	missense	probably damaging	1.00
R4716:Ptpn4	UTSW	1	119,649,598 (GRCm39)	missense	probably damaging	1.00
R4819:Ptpn4	UTSW	1	119,587,580 (GRCm39)	missense	probably benign
R4959:Ptpn4	UTSW	1	119,692,826 (GRCm39)	nonsense	probably null
R5161:Ptpn4	UTSW	1	119,635,593 (GRCm39)	nonsense	probably null
R5345:Ptpn4	UTSW	1	119,693,207 (GRCm39)	missense	probably benign
R5471:Ptpn4	UTSW	1	119,693,649 (GRCm39)	nonsense	probably null
R5826:Ptpn4	UTSW	1	119,612,246 (GRCm39)	missense	probably benign	0.32
R5933:Ptpn4	UTSW	1	119,615,453 (GRCm39)	missense	probably damaging	0.97
R6075:Ptpn4	UTSW	1	119,692,866 (GRCm39)	missense	probably damaging	1.00
R6286:Ptpn4	UTSW	1	119,649,592 (GRCm39)	critical splice donor site	probably null
R6389:Ptpn4	UTSW	1	119,649,684 (GRCm39)	missense	probably damaging	0.97
R6392:Ptpn4	UTSW	1	119,700,853 (GRCm39)	missense	probably benign
R6769:Ptpn4	UTSW	1	119,643,698 (GRCm39)	missense	probably benign	0.01
R6771:Ptpn4	UTSW	1	119,643,698 (GRCm39)	missense	probably benign	0.01
R6794:Ptpn4	UTSW	1	119,671,120 (GRCm39)	missense	probably damaging	1.00
R6933:Ptpn4	UTSW	1	119,700,878 (GRCm39)	intron	probably benign
R6967:Ptpn4	UTSW	1	119,612,311 (GRCm39)	nonsense	probably null
R6980:Ptpn4	UTSW	1	119,671,151 (GRCm39)	missense	possibly damaging	0.86
R7150:Ptpn4	UTSW	1	119,619,475 (GRCm39)	critical splice donor site	probably null
R7247:Ptpn4	UTSW	1	119,617,764 (GRCm39)	makesense	probably null
R7283:Ptpn4	UTSW	1	119,610,261 (GRCm39)	missense	possibly damaging	0.90
R7459:Ptpn4	UTSW	1	119,587,564 (GRCm39)	missense	probably damaging	0.99
R7732:Ptpn4	UTSW	1	119,620,532 (GRCm39)	missense	probably benign
R7794:Ptpn4	UTSW	1	119,653,767 (GRCm39)	missense	probably damaging	1.00
R8061:Ptpn4	UTSW	1	119,619,330 (GRCm39)	critical splice donor site	probably null
R8236:Ptpn4	UTSW	1	119,606,552 (GRCm39)	missense	possibly damaging	0.81
R8929:Ptpn4	UTSW	1	119,595,278 (GRCm39)	missense	probably damaging	1.00
R8979:Ptpn4	UTSW	1	119,671,120 (GRCm39)	missense	probably damaging	1.00
R9334:Ptpn4	UTSW	1	119,730,114 (GRCm39)	missense	probably benign
RF014:Ptpn4	UTSW	1	119,612,195 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02