Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02344:Ptpn4'

289212

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: 0.291) question?

Stock #

IGL02344

Quality Score

Status

Chromosome

Chromosomal Location

119580197-119765281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119700990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 86 (D86E)

Ref Sequence

ENSEMBL: ENSMUSP00000127713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000163179] [ENSMUST00000163435] [ENSMUST00000163621] [ENSMUST00000164086] [ENSMUST00000166422] [ENSMUST00000168303]

AlphaFold

Q9WU22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064091
AA Change: D86E

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: D86E

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: ENSMUST00000163179
AA Change: D11E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably damaging
Transcript: ENSMUST00000163435
AA Change: D86E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
AA Change: D86E

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: ENSMUST00000163621

SMART Domains

Protein: ENSMUSP00000130808
Gene: ENSMUSG00000026384

Domain	Start	End	E-Value	Type
Pfam:FERM_N	33	86	1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164086
AA Change: D80E

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127998
Gene: ENSMUSG00000026384
AA Change: D80E

Domain	Start	End	E-Value	Type
B41	19	133	4.88e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166422

SMART Domains

Protein: ENSMUSP00000129180
Gene: ENSMUSG00000026384

Domain	Start	End	E-Value	Type
Pfam:FERM_N	33	85	1.1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168303
AA Change: D50E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129521
Gene: ENSMUSG00000026384
AA Change: D50E

Domain	Start	End	E-Value	Type
Pfam:FERM_N	11	75	2.7e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000168429
AA Change: D37E

SMART Domains

Protein: ENSMUSP00000130299
Gene: ENSMUSG00000026384
AA Change: D37E

Domain	Start	End	E-Value	Type
B41	13	142	9.36e-14	SMART

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	C	2: 34,979,198 (GRCm39)	N167D	probably benign	Het
AI467606	G	T	7: 126,691,691 (GRCm39)	A89S	probably damaging	Het
Atrip	T	A	9: 108,901,692 (GRCm39)	K122*	probably null	Het
B3glct	C	T	5: 149,650,313 (GRCm39)	R139*	probably null	Het
Cep135	A	G	5: 76,764,668 (GRCm39)	T549A	probably benign	Het
Chd8	T	C	14: 52,439,107 (GRCm39)	N64S	probably damaging	Het
Dock2	T	C	11: 34,622,337 (GRCm39)	I101V	probably damaging	Het
Ipo5	T	C	14: 121,180,191 (GRCm39)		probably benign	Het
Ly6g5c	A	G	17: 35,329,723 (GRCm39)	T68A	possibly damaging	Het
Mthfd1l	A	G	10: 3,998,272 (GRCm39)		probably null	Het
Nme8	T	A	13: 19,858,574 (GRCm39)	E88V	possibly damaging	Het
Rnf169	A	G	7: 99,575,642 (GRCm39)	S318P	probably damaging	Het
Sidt2	T	C	9: 45,856,590 (GRCm39)	Y493C	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tet3	A	G	6: 83,380,815 (GRCm39)	V451A	probably benign	Het
Tmc3	A	T	7: 83,258,302 (GRCm39)	I431L	probably benign	Het
Trp73	C	T	4: 154,146,500 (GRCm39)	G420S	possibly damaging	Het
Vmn2r108	T	C	17: 20,689,405 (GRCm39)	S517G	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
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