Mutagenetix > Incidental Mutations

Incidental Mutation 'R1662:Ptpn4'

186805

Institutional Source

Beutler Lab

Gene Symbol

Ptpn4

Ensembl Gene

ENSMUSG00000026384

Gene Name

protein tyrosine phosphatase, non-receptor type 4

Synonyms

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

MMRRC Submission

039698-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119652467-119837613 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119765058 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 187 (E187G)

Ref Sequence

ENSEMBL: ENSMUSP00000127713 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064091
AA Change: E187G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: E187G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163435
AA Change: E187G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
AA Change: E187G

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: 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 benign
Transcript: ENSMUST00000168303

SMART Domains

Protein: ENSMUSP00000129521
Gene: ENSMUSG00000026384

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

Predicted Effect

unknown
Transcript: ENSMUST00000168429
AA Change: E123G

SMART Domains

Protein: ENSMUSP00000130299
Gene: ENSMUSG00000026384
AA Change: E123G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,611,682	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,531,966	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251		probably null	Het
Aff1	G	A	5: 103,841,057	G830D	probably damaging	Het
AI987944	T	C	7: 41,374,449	T369A	possibly damaging	Het
Aoah	A	G	13: 21,000,113		probably null	Het
Arhgap40	C	G	2: 158,539,270	C349W	probably damaging	Het
Atic	T	A	1: 71,576,127	D438E	probably benign	Het
Barhl2	A	T	5: 106,453,499	M338K	probably benign	Het
Btd	T	C	14: 31,666,790	V156A	probably damaging	Het
Ccdc82	T	C	9: 13,262,772	V319A	probably damaging	Het
Celsr1	G	T	15: 86,031,062	N903K	probably damaging	Het
Cenpf	T	A	1: 189,657,771	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,244,937	T252I	probably benign	Het
Cma2	T	C	14: 55,973,116	C87R	probably damaging	Het
Cops7a	T	A	6: 124,962,438	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,810,548	M205L	possibly damaging	Het
Dcc	A	G	18: 71,420,338	L749P	probably benign	Het
Dync1i2	C	T	2: 71,250,979	T484I	possibly damaging	Het
Epas1	A	T	17: 86,829,027	K742N	probably damaging	Het
Evc2	A	G	5: 37,348,750	T138A	probably benign	Het
F5	T	C	1: 164,207,888	I1877T	probably damaging	Het
Fat1	T	G	8: 44,953,164	V984G	probably benign	Het
Fat4	T	A	3: 38,980,779	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,256,894	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,737,002	R120H	probably damaging	Het
Gcnt3	T	C	9: 70,034,377	D303G	probably benign	Het
Gm16432	A	G	1: 178,046,986	K140E	unknown	Het
Gng11	A	T	6: 4,008,066	Y43F	probably benign	Het
Hectd4	A	C	5: 121,317,245	M651L	probably benign	Het
Ifngr2	T	A	16: 91,560,596	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,098,401	V512A	probably benign	Het
Kdm2a	A	C	19: 4,328,212	D187E	probably damaging	Het
Klhl8	A	G	5: 103,872,045	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,836,670		probably benign	Het
Krt12	C	A	11: 99,420,824	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,606,757	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1a	C	G	2: 121,306,408	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,625,172	Q301K	probably damaging	Het
Med12l	A	T	3: 59,093,617	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Mybph	C	T	1: 134,193,636	P45S	probably benign	Het
Myo15	T	A	11: 60,501,701	S2157T	probably damaging	Het
Olfr113	G	T	17: 37,575,273	T50K	probably damaging	Het
Olfr193	T	C	16: 59,110,604	E2G	probably benign	Het
Olfr374	T	C	8: 72,109,779	V71A	probably benign	Het
Olfr721-ps1	T	A	14: 14,407,880	Y217*	probably null	Het
Otogl	A	G	10: 107,798,357	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,551,639	F118L	probably damaging	Het
Pak7	T	C	2: 136,116,760	D136G	probably damaging	Het
Pik3r2	T	C	8: 70,770,606	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,016,603	N372S	probably benign	Het
Prss30	G	T	17: 23,972,832	N238K	possibly damaging	Het
Prss33	C	A	17: 23,834,811		probably null	Het
Ptprg	A	T	14: 12,207,357	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,651,042	V130A	probably benign	Het
Rdh7	A	T	10: 127,888,612	M1K	probably null	Het
Rtp3	A	C	9: 110,986,683	S205A	probably benign	Het
Ryr3	G	T	2: 112,709,273	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,483,459	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,902,328	V122A	probably benign	Het
Slc15a4	A	G	5: 127,608,979	L213S	probably damaging	Het
Slc27a5	T	A	7: 12,991,246	I425F	probably damaging	Het
Spata31d1b	A	G	13: 59,716,628	D530G	probably benign	Het
Tcf25	T	A	8: 123,381,550	S115T	probably benign	Het
Tet2	A	G	3: 133,466,852	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,561,898	R205*	probably null	Het
Ttc23	G	T	7: 67,725,321		probably null	Het
Unc13d	T	C	11: 116,068,673	K658R	probably null	Het
Vmn1r43	A	G	6: 89,869,590	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,117,130	C677S	probably benign	Het
Wnt5a	T	C	14: 28,518,343	M150T	probably benign	Het
Ythdc1	G	A	5: 86,828,122		probably null	Het
Zcchc6	T	C	13: 59,799,903	E466G	possibly damaging	Het
Zdbf2	A	T	1: 63,304,249	R596*	probably null	Het

Other mutations in Ptpn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Ptpn4	APN	1	119659925	splice site	probably benign
IGL00885:Ptpn4	APN	1	119802363	missense	possibly damaging	0.95
IGL00973:Ptpn4	APN	1	119741371	missense	probably benign	0.00
IGL01867:Ptpn4	APN	1	119675599	missense	probably benign
IGL01870:Ptpn4	APN	1	119675547	critical splice donor site	probably null
IGL02101:Ptpn4	APN	1	119687678	missense	probably damaging	1.00
IGL02344:Ptpn4	APN	1	119773260	missense	probably damaging	1.00
IGL02348:Ptpn4	APN	1	119682722	missense	probably damaging	1.00
IGL02693:Ptpn4	APN	1	119715969	missense	probably damaging	0.96
IGL03281:Ptpn4	APN	1	119659912	missense	probably damaging	1.00
alto	UTSW	1	119684581	nonsense	probably null
botched	UTSW	1	119743390	missense	probably damaging	1.00
bungled	UTSW	1	119687605	splice site	probably null
hash	UTSW	1	119765919	nonsense	probably null
Hoechter	UTSW	1	119680059	missense	probably damaging	1.00
BB008:Ptpn4	UTSW	1	119680195	missense	probably damaging	0.98
BB018:Ptpn4	UTSW	1	119680195	missense	probably damaging	0.98
R0105:Ptpn4	UTSW	1	119687605	splice site	probably null
R0105:Ptpn4	UTSW	1	119687605	splice site	probably null
R0504:Ptpn4	UTSW	1	119765915	missense	probably damaging	1.00
R1148:Ptpn4	UTSW	1	119684540	missense	probably damaging	0.99
R1148:Ptpn4	UTSW	1	119675709	splice site	probably benign
R1148:Ptpn4	UTSW	1	119684540	missense	probably damaging	0.99
R1694:Ptpn4	UTSW	1	119783510	missense	probably damaging	0.99
R1733:Ptpn4	UTSW	1	119716043	splice site	probably null
R2083:Ptpn4	UTSW	1	119687759	missense	possibly damaging	0.63
R2226:Ptpn4	UTSW	1	119682785	missense	probably damaging	1.00
R2276:Ptpn4	UTSW	1	119684591	missense	probably damaging	1.00
R2277:Ptpn4	UTSW	1	119684591	missense	probably damaging	1.00
R3123:Ptpn4	UTSW	1	119765423	splice site	probably null
R3425:Ptpn4	UTSW	1	119707830	missense	probably benign	0.02
R4568:Ptpn4	UTSW	1	119680059	missense	probably damaging	1.00
R4716:Ptpn4	UTSW	1	119721868	missense	probably damaging	1.00
R4819:Ptpn4	UTSW	1	119659850	missense	probably benign
R4959:Ptpn4	UTSW	1	119765096	nonsense	probably null
R5161:Ptpn4	UTSW	1	119707863	nonsense	probably null
R5345:Ptpn4	UTSW	1	119765477	missense	probably benign
R5471:Ptpn4	UTSW	1	119765919	nonsense	probably null
R5826:Ptpn4	UTSW	1	119684516	missense	probably benign	0.32
R5933:Ptpn4	UTSW	1	119687723	missense	probably damaging	0.97
R6075:Ptpn4	UTSW	1	119765136	missense	probably damaging	1.00
R6286:Ptpn4	UTSW	1	119721862	critical splice donor site	probably null
R6389:Ptpn4	UTSW	1	119721954	missense	probably damaging	0.97
R6392:Ptpn4	UTSW	1	119773123	missense	probably benign
R6769:Ptpn4	UTSW	1	119715968	missense	probably benign	0.01
R6771:Ptpn4	UTSW	1	119715968	missense	probably benign	0.01
R6794:Ptpn4	UTSW	1	119743390	missense	probably damaging	1.00
R6933:Ptpn4	UTSW	1	119773148	intron	probably benign
R6967:Ptpn4	UTSW	1	119684581	nonsense	probably null
R6980:Ptpn4	UTSW	1	119743421	missense	possibly damaging	0.86
R7150:Ptpn4	UTSW	1	119691745	critical splice donor site	probably null
R7247:Ptpn4	UTSW	1	119690034	makesense	probably null
R7283:Ptpn4	UTSW	1	119682531	missense	possibly damaging	0.90
R7459:Ptpn4	UTSW	1	119659834	missense	probably damaging	0.99
R7732:Ptpn4	UTSW	1	119692802	missense	probably benign
R7794:Ptpn4	UTSW	1	119726037	missense	probably damaging	1.00
R8061:Ptpn4	UTSW	1	119691600	critical splice donor site	probably null
R8236:Ptpn4	UTSW	1	119678822	missense	possibly damaging	0.81
RF014:Ptpn4	UTSW	1	119684465	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACTCTTCCCTCTAGAAAGGTTTCtgt -3'
(R):5'- ACACTGCTGCCCTTTTAGCATCATTT -3'

Sequencing Primer
(F):5'- cccacctccacactgatac -3'
(R):5'- CCGCAACTTGTTTAATGTAACAC -3'

Posted On

2014-05-09