Mutagenetix > Incidental Mutation

Incidental Mutation 'R7150:Ptpn4'

554037

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

045252-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R7150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119652467-119837613 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 119691745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064091] [ENSMUST00000163435] [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 null
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: ENSMUST00000164269

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

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	C	8: 124,862,914	D20G	possibly damaging	Het
5430401F13Rik	T	C	6: 131,552,667	S75P	probably benign	Het
9530003J23Rik	T	C	10: 117,237,742	N62S	probably benign	Het
Acad8	A	T	9: 26,978,454	F315I	probably damaging	Het
Adcy5	A	G	16: 35,298,534	Y1085C	probably damaging	Het
Aldh1a7	T	C	19: 20,716,018	K179R	probably damaging	Het
Arhgap10	C	T	8: 77,250,954	G776R	probably damaging	Het
Arhgap35	A	C	7: 16,562,566	F858C	probably damaging	Het
Ash1l	C	T	3: 89,077,074	R2957W	probably damaging	Het
Atp6ap1l	G	T	13: 90,883,729	A278E	probably damaging	Het
Btn1a1	A	T	13: 23,459,351	D309E	probably damaging	Het
Casd1	C	T	6: 4,624,211	R335C	probably benign	Het
Ceacam3	A	G	7: 17,151,562	Q30R		Het
Cfap20	C	T	8: 95,422,167	C119Y	probably damaging	Het
Cntrl	A	T	2: 35,165,445		probably null	Het
Crot	A	G	5: 8,987,878	V146A	probably damaging	Het
Cx3cl1	A	G	8: 94,779,963	S199G	probably damaging	Het
D5Ertd577e	A	G	5: 95,482,821	I186V	possibly damaging	Het
Ddhd1	A	T	14: 45,657,806	L69Q	probably damaging	Het
Dnah12	T	C	14: 26,861,732	F3195L	probably damaging	Het
Dpy19l3	A	T	7: 35,708,630	D450E	probably benign	Het
Ercc3	A	T	18: 32,257,272	N538I	probably damaging	Het
Fzd1	A	T	5: 4,756,145	V479E	probably benign	Het
Gart	T	C	16: 91,628,463	Y638C	possibly damaging	Het
Gm2381	C	A	7: 42,820,464	V79L	probably benign	Het
Gucy1b1	T	C	3: 82,043,162	Y312C	probably damaging	Het
Hecw1	T	A	13: 14,434,460	M1L	probably benign	Het
Ip6k2	A	G	9: 108,796,731	I99V	unknown	Het
Itgb5	C	T	16: 33,940,643	T616I	probably benign	Het
Kmt2c	A	C	5: 25,300,362	V3316G	possibly damaging	Het
Lama3	C	T	18: 12,468,289	R1008C	probably damaging	Het
Lin54	T	C	5: 100,485,300	D175G	possibly damaging	Het
Lrp2	A	G	2: 69,488,051	S2019P	probably damaging	Het
Lrrc9	A	G	12: 72,466,952	E528G	probably benign	Het
Mto1	A	G	9: 78,457,283	H299R	probably damaging	Het
Myo19	G	A	11: 84,905,613	G684R	probably benign	Het
Olfr297	A	C	7: 86,527,114	D119A	probably damaging	Het
Olfr851	A	T	9: 19,496,849	M34L	probably benign	Het
Pcdh18	C	A	3: 49,754,694	C724F	probably benign	Het
Pcdha3	A	T	18: 36,947,112	K302N	probably benign	Het
Pcdhgb2	T	C	18: 37,692,247	F764L	possibly damaging	Het
Pik3cb	C	A	9: 99,093,090	G246W	probably damaging	Het
Polr2m	A	T	9: 71,483,344	I192N	probably damaging	Het
Polr2m	G	T	9: 71,483,533	T129K	probably benign	Het
Scgb1b19	A	T	7: 33,287,515	K30N	possibly damaging	Het
Shpk	A	G	11: 73,213,489	T155A	probably damaging	Het
Slit3	T	C	11: 35,570,719	Y261H	probably damaging	Het
Sox13	A	G	1: 133,385,505	F438L	possibly damaging	Het
Sphk1	A	T	11: 116,535,081	E61D	probably benign	Het
St18	A	G	1: 6,803,019	D326G	probably damaging	Het
Syde1	G	A	10: 78,586,198	Q566*	probably null	Het
Tacc2	A	G	7: 130,729,077	T254A	probably benign	Het
Tbc1d1	A	G	5: 64,173,484	E2G	probably damaging	Het
Trim5	A	T	7: 104,276,810	N181K	probably damaging	Het
Trpc7	A	T	13: 56,783,696	I730K	probably benign	Het
Uqcrc1	T	A	9: 108,947,858	M377K	probably benign	Het
Vmn2r4	T	C	3: 64,398,477	N508S	probably benign	Het
Vmp1	A	T	11: 86,586,576	S333T	probably benign	Het
Vps50	T	A	6: 3,578,854	M639K	possibly damaging	Het
Zfp874b	A	T	13: 67,474,503	C225*	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
blinding	UTSW	1	119721862	critical splice donor site	probably null
botched	UTSW	1	119743390	missense	probably damaging	1.00
bungled	UTSW	1	119687605	splice site	probably null
Fovea	UTSW	1	119678822	missense	possibly damaging	0.81
hash	UTSW	1	119765919	nonsense	probably null
Hoechter	UTSW	1	119680059	missense	probably damaging	1.00
Lumens	UTSW	1	119667548	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
R1662:Ptpn4	UTSW	1	119765058	missense	probably damaging	0.96
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
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
R8929:Ptpn4	UTSW	1	119667548	missense	probably damaging	1.00
R8979:Ptpn4	UTSW	1	119743390	missense	probably damaging	1.00
R9334:Ptpn4	UTSW	1	119802384	missense	probably benign
RF014:Ptpn4	UTSW	1	119684465	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAACACGATTAGATAAAATGTGGGAT -3'
(R):5'- TGTGTATGGAAGTTATTGGGCAAA -3'

Sequencing Primer
(F):5'- AATGTGGGATAACTTACAGGTGTTCC -3'
(R):5'- GGGCAAAGAAACTATTTTCCTCAC -3'

Posted On

2019-05-15