Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01870:Ptpn4'

178696

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 #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

119580197-119765281 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 119603277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067614 (fasta)

Gene Model

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

AlphaFold

Q9WU22

Predicted Effect

probably null
Transcript: ENSMUST00000064091

SMART Domains

Protein: ENSMUSP00000067614
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
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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,310 (GRCm39)	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,438,604 (GRCm39)	K300E	probably damaging	Het
Cma2	C	A	14: 56,211,194 (GRCm39)	S162Y	probably benign	Het
Cntn4	A	G	6: 106,466,676 (GRCm39)	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,824,377 (GRCm39)	M556L	probably benign	Het
Dld	A	G	12: 31,385,466 (GRCm39)	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,009,552 (GRCm39)	D3746E	probably benign	Het
Eea1	A	G	10: 95,809,848 (GRCm39)	T9A	probably damaging	Het
Eeig1	T	C	2: 32,456,294 (GRCm39)	S319P	probably benign	Het
Gbf1	A	G	19: 46,274,108 (GRCm39)	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
H2-M1	A	T	17: 36,980,955 (GRCm39)	M327K	probably benign	Het
Ifnz	T	A	4: 88,701,548 (GRCm39)	S176T	possibly damaging	Het
Irak4	T	C	15: 94,445,751 (GRCm39)	Y10H	probably benign	Het
Irx5	T	C	8: 93,086,405 (GRCm39)	F163L	probably damaging	Het
Jak3	C	T	8: 72,133,434 (GRCm39)	P376S	probably damaging	Het
Lrrc25	T	C	8: 71,070,437 (GRCm39)	S73P	possibly damaging	Het
Macf1	C	T	4: 123,367,906 (GRCm39)	G2285D	probably damaging	Het
Muc4	A	T	16: 32,574,624 (GRCm39)	T1025S	probably benign	Het
Mylk2	A	G	2: 152,757,134 (GRCm39)	N303S	probably benign	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Pcnx1	T	C	12: 82,022,667 (GRCm39)	V1512A	probably benign	Het
Phlda3	A	G	1: 135,694,376 (GRCm39)	S64G	probably benign	Het
Pptc7	C	A	5: 122,451,665 (GRCm39)	S40R	probably damaging	Het
Pramel19	T	A	4: 101,797,887 (GRCm39)	L95H	probably benign	Het
Slc10a1	T	C	12: 81,007,302 (GRCm39)	M160V	probably benign	Het
Stac	T	C	9: 111,401,400 (GRCm39)	I349V	probably benign	Het
Synm	A	G	7: 67,385,866 (GRCm39)	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,052,915 (GRCm39)	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,601,411 (GRCm39)	V883I	possibly damaging	Het
Upp1	T	C	11: 9,075,700 (GRCm39)		probably null	Het
Whamm	C	T	7: 81,245,722 (GRCm39)	T726I	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
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
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

2014-05-07