Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Ptpn12'

84173

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn12

Ensembl Gene

ENSMUSG00000028771

Gene Name

protein tyrosine phosphatase, non-receptor type 12

Synonyms

PTP-PEST, PTP-P19, P19-PTP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

21191643-21260909 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21203553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 408 (Y408*)

Ref Sequence

ENSEMBL: ENSMUSP00000030556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813]

AlphaFold

P35831

Predicted Effect

probably null
Transcript: ENSMUST00000030556
AA Change: Y408*

SMART Domains

Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: Y408*

Domain	Start	End	E-Value	Type
PTPc	27	295	2.14e-126	SMART
Blast:PTPc	338	399	7e-12	BLAST
low complexity region	499	518	N/A	INTRINSIC
low complexity region	603	615	N/A	INTRINSIC
low complexity region	622	640	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148711

Predicted Effect

probably benign
Transcript: ENSMUST00000151813

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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality, defective embryo turning, improper somitogenesis and vasculogenesis, impaired liver development, truncation of the caudal region and mesenchyme deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh9a1	T	C	1: 167,183,354 (GRCm39)	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,612,566 (GRCm39)	I164F	probably damaging	Het
Anapc1	C	A	2: 128,475,328 (GRCm39)	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,358,514 (GRCm39)	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,242,125 (GRCm39)	K892E	probably benign	Het
Bltp1	T	A	3: 37,057,908 (GRCm39)	V3166E	possibly damaging	Het
Bpnt1	G	A	1: 185,086,218 (GRCm39)	W261*	probably null	Het
Calu	A	G	6: 29,356,552 (GRCm39)	D26G	possibly damaging	Het
Ccdc113	C	T	8: 96,264,885 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,605,405 (GRCm39)	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,831,033 (GRCm39)	K290R	probably damaging	Het
Cep131	G	A	11: 119,967,835 (GRCm39)	A140V	possibly damaging	Het
Cfap251	A	G	5: 123,418,015 (GRCm39)	I81M	possibly damaging	Het
Chn1	A	T	2: 73,462,096 (GRCm39)	C236S	probably damaging	Het
Cntn4	T	A	6: 106,655,295 (GRCm39)		probably benign	Het
Crispld1	A	T	1: 17,817,025 (GRCm39)	Q194L	probably benign	Het
Csmd3	A	G	15: 47,596,895 (GRCm39)	V1981A	probably damaging	Het
Cttn	A	G	7: 144,015,043 (GRCm39)	I55T	probably damaging	Het
Ddx46	G	T	13: 55,785,835 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,030,557 (GRCm39)	I299N	unknown	Het
Dll1	A	G	17: 15,588,768 (GRCm39)	Y636H	probably damaging	Het
Eng	A	T	2: 32,559,544 (GRCm39)	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,578,324 (GRCm39)	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,547,043 (GRCm39)	T461S	probably benign	Het
Gbf1	T	C	19: 46,268,434 (GRCm39)	Y1269H	probably damaging	Het
Gm5852	A	G	3: 93,635,086 (GRCm39)	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,330,052 (GRCm39)	G323R	probably damaging	Het
Gpr155	T	A	2: 73,182,229 (GRCm39)	E661D	possibly damaging	Het
Grik4	A	T	9: 42,432,472 (GRCm39)	C842S	probably damaging	Het
Iws1	A	G	18: 32,216,519 (GRCm39)		probably benign	Het
Kif5c	A	G	2: 49,591,089 (GRCm39)	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,298,751 (GRCm39)	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,720,393 (GRCm39)	T3865A	unknown	Het
Lgr5	T	C	10: 115,288,997 (GRCm39)	K477R	probably damaging	Het
Ly75	A	T	2: 60,206,351 (GRCm39)	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,675,655 (GRCm39)	M26K	probably damaging	Het
Mettl2	T	C	11: 105,017,348 (GRCm39)	V9A	probably benign	Het
Mgat5b	A	G	11: 116,864,202 (GRCm39)	D456G	probably benign	Het
Mstn	A	G	1: 53,105,689 (GRCm39)	T344A	possibly damaging	Het
Npr1	T	A	3: 90,370,543 (GRCm39)	I308F	possibly damaging	Het
Oasl1	G	A	5: 115,075,466 (GRCm39)	V509M	probably benign	Het
Obscn	T	C	11: 58,924,583 (GRCm39)	M5727V	probably benign	Het
Or2d4	T	C	7: 106,543,748 (GRCm39)	I153M	possibly damaging	Het
Or4c114	T	A	2: 88,904,545 (GRCm39)	I297F	probably benign	Het
Or4k15c	T	A	14: 50,321,404 (GRCm39)	T245S	probably benign	Het
Or5an1c	A	G	19: 12,218,891 (GRCm39)	S45P	probably damaging	Het
Pcgf1	T	C	6: 83,055,398 (GRCm39)	I11T	possibly damaging	Het
Phactr3	T	C	2: 177,924,893 (GRCm39)	V276A	probably benign	Het
Pla2g6	A	T	15: 79,202,168 (GRCm39)	M1K	probably null	Het
Plec	T	C	15: 76,074,728 (GRCm39)	E413G	probably damaging	Het
Plxna2	G	T	1: 194,326,626 (GRCm39)	A187S	possibly damaging	Het
Polq	A	T	16: 36,892,184 (GRCm39)		probably benign	Het
Pramel51	T	C	12: 88,143,202 (GRCm39)	K139E	probably benign	Het
Prss39	A	G	1: 34,541,216 (GRCm39)	D240G	probably benign	Het
Ptprt	A	G	2: 162,109,999 (GRCm39)		probably benign	Het
Rnf6	A	T	5: 146,152,931 (GRCm39)	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,866,090 (GRCm39)	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,113,491 (GRCm39)	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,182,012 (GRCm39)	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,738,285 (GRCm39)	T527A	probably damaging	Het
Smg9	T	C	7: 24,120,691 (GRCm39)		probably null	Het
Snx25	A	G	8: 46,558,197 (GRCm39)	L270P	probably damaging	Het
Ssh1	G	T	5: 114,096,883 (GRCm39)	T165N	probably benign	Het
Stk24	T	A	14: 121,540,218 (GRCm39)	E127V	probably damaging	Het
Suco	A	G	1: 161,661,689 (GRCm39)	V914A	probably damaging	Het
Tbcd	T	A	11: 121,366,506 (GRCm39)		probably benign	Het
Tbcel	A	T	9: 42,355,817 (GRCm39)	L114Q	possibly damaging	Het
Trpm1	A	G	7: 63,884,767 (GRCm39)	D816G	probably benign	Het
Uhrf1	G	A	17: 56,625,250 (GRCm39)	V566M	probably damaging	Het
Ulk4	T	A	9: 121,095,367 (GRCm39)	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,691,201 (GRCm39)	M6T	probably benign	Het
Vmn2r59	C	T	7: 41,661,983 (GRCm39)	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,239 (GRCm39)	H367N	probably benign	Het
Xpo6	A	G	7: 125,723,553 (GRCm39)	V585A	probably benign	Het

Other mutations in Ptpn12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Ptpn12	APN	5	21,234,848 (GRCm39)	missense	probably damaging	1.00
IGL00226:Ptpn12	APN	5	21,203,666 (GRCm39)	missense	probably damaging	1.00
IGL02285:Ptpn12	APN	5	21,260,711 (GRCm39)	missense	probably benign	0.40
IGL02488:Ptpn12	APN	5	21,227,060 (GRCm39)	missense	possibly damaging	0.72
IGL02550:Ptpn12	APN	5	21,203,137 (GRCm39)	missense	probably benign	0.00
IGL02640:Ptpn12	APN	5	21,224,244 (GRCm39)	missense	probably damaging	1.00
IGL02652:Ptpn12	APN	5	21,207,435 (GRCm39)	missense	probably benign	0.04
IGL03130:Ptpn12	APN	5	21,207,610 (GRCm39)	unclassified	probably benign
R0531:Ptpn12	UTSW	5	21,203,481 (GRCm39)	missense	possibly damaging	0.53
R0948:Ptpn12	UTSW	5	21,203,041 (GRCm39)	missense	probably benign
R1018:Ptpn12	UTSW	5	21,234,867 (GRCm39)	missense	possibly damaging	0.94
R1184:Ptpn12	UTSW	5	21,203,354 (GRCm39)	missense	possibly damaging	0.86
R1699:Ptpn12	UTSW	5	21,203,168 (GRCm39)	missense	probably benign	0.01
R1938:Ptpn12	UTSW	5	21,198,261 (GRCm39)	missense	probably damaging	1.00
R1952:Ptpn12	UTSW	5	21,203,308 (GRCm39)	missense	probably benign	0.34
R2152:Ptpn12	UTSW	5	21,207,466 (GRCm39)	missense	probably damaging	1.00
R2153:Ptpn12	UTSW	5	21,207,466 (GRCm39)	missense	probably damaging	1.00
R2154:Ptpn12	UTSW	5	21,207,466 (GRCm39)	missense	probably damaging	1.00
R2267:Ptpn12	UTSW	5	21,203,409 (GRCm39)	missense	probably damaging	0.98
R2358:Ptpn12	UTSW	5	21,203,690 (GRCm39)	missense	probably damaging	1.00
R3551:Ptpn12	UTSW	5	21,194,047 (GRCm39)	missense	possibly damaging	0.67
R3931:Ptpn12	UTSW	5	21,206,321 (GRCm39)	missense	probably benign	0.00
R4013:Ptpn12	UTSW	5	21,197,741 (GRCm39)	missense	probably benign	0.05
R4039:Ptpn12	UTSW	5	21,207,508 (GRCm39)	nonsense	probably null
R4501:Ptpn12	UTSW	5	21,224,278 (GRCm39)	missense	probably damaging	1.00
R4748:Ptpn12	UTSW	5	21,210,383 (GRCm39)	nonsense	probably null
R4754:Ptpn12	UTSW	5	21,203,587 (GRCm39)	missense	probably benign	0.34
R4963:Ptpn12	UTSW	5	21,220,706 (GRCm39)	splice site	probably null
R5160:Ptpn12	UTSW	5	21,202,829 (GRCm39)	missense	probably damaging	1.00
R5581:Ptpn12	UTSW	5	21,220,724 (GRCm39)	missense	probably damaging	1.00
R5789:Ptpn12	UTSW	5	21,194,013 (GRCm39)	missense	possibly damaging	0.92
R5836:Ptpn12	UTSW	5	21,214,544 (GRCm39)	nonsense	probably null
R6383:Ptpn12	UTSW	5	21,192,466 (GRCm39)	nonsense	probably null
R6883:Ptpn12	UTSW	5	21,260,711 (GRCm39)	missense	probably benign	0.40
R7544:Ptpn12	UTSW	5	21,214,509 (GRCm39)	missense	probably damaging	1.00
R7885:Ptpn12	UTSW	5	21,203,523 (GRCm39)	missense	possibly damaging	0.54
R7915:Ptpn12	UTSW	5	21,214,449 (GRCm39)	missense	probably damaging	1.00
R7960:Ptpn12	UTSW	5	21,260,687 (GRCm39)	missense	probably benign	0.01
R7976:Ptpn12	UTSW	5	21,207,631 (GRCm39)	nonsense	probably null
R8032:Ptpn12	UTSW	5	21,203,041 (GRCm39)	missense	probably benign
R8224:Ptpn12	UTSW	5	21,203,656 (GRCm39)	missense	probably damaging	1.00
R8473:Ptpn12	UTSW	5	21,203,357 (GRCm39)	missense	probably benign	0.00
R8823:Ptpn12	UTSW	5	21,203,621 (GRCm39)	missense	probably damaging	1.00
R9375:Ptpn12	UTSW	5	21,224,212 (GRCm39)	missense	probably benign	0.21
R9613:Ptpn12	UTSW	5	21,203,621 (GRCm39)	missense	probably damaging	1.00
R9707:Ptpn12	UTSW	5	21,207,620 (GRCm39)	missense	probably damaging	0.99
X0004:Ptpn12	UTSW	5	21,224,294 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-11