Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02101:Ptpn4'

279754

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 #

IGL02101

Quality Score

Status

Chromosome

Chromosomal Location

119580197-119765281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119615408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 582 (V582A)

Ref Sequence

ENSEMBL: ENSMUSP00000067614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000163435] [ENSMUST00000166624]

AlphaFold

Q9WU22

Predicted Effect

probably damaging
Transcript: ENSMUST00000064091
AA Change: V582A

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

SMART Domains

Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: V582A

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: ENSMUST00000163435

SMART Domains

Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384

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
PDB:3NFL\|D	499	552	4e-30	PDB

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd163	T	A	6: 124,284,246 (GRCm39)	C139*	probably null	Het
Ces2g	A	G	8: 105,691,769 (GRCm39)		probably null	Het
Ckap5	T	C	2: 91,402,885 (GRCm39)		probably benign	Het
Cmtm7	T	C	9: 114,592,336 (GRCm39)	H87R	probably damaging	Het
Dennd3	A	G	15: 73,399,794 (GRCm39)	D220G	possibly damaging	Het
Dpp10	T	C	1: 123,339,555 (GRCm39)	Y324C	probably damaging	Het
Dsc3	C	T	18: 20,134,963 (GRCm39)	R7Q	probably benign	Het
Ezh1	T	C	11: 101,086,392 (GRCm39)	K598E	possibly damaging	Het
Ighv7-3	A	G	12: 114,117,045 (GRCm39)	L39P	probably damaging	Het
Il1rap	T	A	16: 26,442,932 (GRCm39)	S9R	possibly damaging	Het
Mrgpra3	A	G	7: 47,239,300 (GRCm39)	C209R	probably damaging	Het
Oc90	G	T	15: 65,769,638 (GRCm39)	P73Q	probably damaging	Het
Or2m12	T	C	16: 19,105,363 (GRCm39)	I43M	probably benign	Het
Or3a1b	G	A	11: 74,012,571 (GRCm39)	W152*	probably null	Het
Pccb	A	G	9: 100,869,894 (GRCm39)	F346L	possibly damaging	Het
Pdxdc1	A	G	16: 13,687,720 (GRCm39)	I225T	probably damaging	Het
Pold3	A	T	7: 99,749,703 (GRCm39)	M154K	probably damaging	Het
Polr1a	T	G	6: 71,927,786 (GRCm39)	C846G	probably benign	Het
Ppip5k1	C	A	2: 121,162,089 (GRCm39)	R978L	possibly damaging	Het
Sez6l	G	T	5: 112,620,612 (GRCm39)	Q323K	probably damaging	Het
Slc27a5	A	T	7: 12,727,270 (GRCm39)	I384N	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc7a2	T	C	8: 41,355,631 (GRCm39)	F227L	probably benign	Het
Smad4	C	A	18: 73,791,723 (GRCm39)	A273S	probably benign	Het
Spata17	T	C	1: 186,849,657 (GRCm39)	I84V	probably benign	Het
Sphkap	T	C	1: 83,268,708 (GRCm39)	T95A	probably damaging	Het
Tie1	T	C	4: 118,329,995 (GRCm39)	D1076G	probably benign	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
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
IGL03281:Ptpn4	APN	1	119,587,642 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16