Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00162:Ptpn12'

1671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn12

Ensembl Gene

ENSMUSG00000028771

Gene Name

protein tyrosine phosphatase, non-receptor type 12

Synonyms

P19-PTP, PTP-PEST, PTP-P19

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

20986645-21055911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21029850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 45 (E45G)

Ref Sequence

ENSEMBL: ENSMUSP00000030556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813] [ENSMUST00000199774]

AlphaFold

P35831

Predicted Effect

probably damaging
Transcript: ENSMUST00000030556
AA Change: E45G

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

SMART Domains

Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: E45G

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

probably benign
Transcript: ENSMUST00000140057

Predicted Effect

probably benign
Transcript: ENSMUST00000151813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196295

Predicted Effect

probably benign
Transcript: ENSMUST00000199774

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C330021F23Rik	A	G	8: 3,583,904	T2A	probably benign	Het
Cc2d1b	T	G	4: 108,627,378	L470R	probably damaging	Het
Cd96	A	T	16: 46,071,799	N275K	possibly damaging	Het
Col22a1	A	G	15: 71,860,958		probably null	Het
Cyb561	T	C	11: 105,935,836	H197R	probably damaging	Het
Dlgap1	T	C	17: 70,516,085	S22P	probably benign	Het
Dnajc6	A	G	4: 101,508,089		probably benign	Het
Fgf6	A	T	6: 127,024,085	K185N	possibly damaging	Het
Fshr	T	C	17: 88,986,191	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,048,443	Y103*	probably null	Het
Gm7247	G	A	14: 51,523,505	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,935,781	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,634,547	E368G	probably benign	Het
Kdm3b	A	G	18: 34,809,409	E851G	probably benign	Het
Kif3b	A	G	2: 153,317,131	D284G	probably damaging	Het
Kyat3	G	A	3: 142,734,474	A320T	probably benign	Het
Mok	C	T	12: 110,808,197		probably benign	Het
Mrgpra3	A	G	7: 47,589,519	F220L	probably benign	Het
Nr4a1	T	C	15: 101,270,899	V272A	probably damaging	Het
Olfr1124	A	G	2: 87,435,063	H192R	probably benign	Het
Olfr703	A	G	7: 106,845,367	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,260,121		probably null	Het
Plekhn1	T	G	4: 156,223,363	T369P	probably damaging	Het
Ralgps1	A	T	2: 33,137,682	*516R	probably null	Het
Senp6	A	G	9: 80,116,610	D385G	probably damaging	Het
Siglech	T	C	7: 55,772,591		probably benign	Het
Slit1	A	G	19: 41,650,835	L212P	probably damaging	Het
Smchd1	T	A	17: 71,465,673		probably benign	Het
Snapc4	A	T	2: 26,369,312	C609S	probably benign	Het
Strn3	T	C	12: 51,661,196	T139A	possibly damaging	Het
Tcaf3	T	C	6: 42,593,385	T478A	probably benign	Het
Tlr3	A	G	8: 45,400,690	S198P	probably damaging	Het
Ttn	C	T	2: 76,890,479		probably benign	Het
Vil1	G	A	1: 74,423,875	E406K	probably damaging	Het
Zfp462	A	G	4: 55,011,483		probably null	Het
Zfyve9	A	G	4: 108,642,107	V1338A	possibly damaging	Het

Other mutations in Ptpn12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Ptpn12	APN	5	20998668	missense	probably damaging	1.00
IGL01432:Ptpn12	APN	5	20998555	nonsense	probably null
IGL02285:Ptpn12	APN	5	21055713	missense	probably benign	0.40
IGL02488:Ptpn12	APN	5	21022062	missense	possibly damaging	0.72
IGL02550:Ptpn12	APN	5	20998139	missense	probably benign	0.00
IGL02640:Ptpn12	APN	5	21019246	missense	probably damaging	1.00
IGL02652:Ptpn12	APN	5	21002437	missense	probably benign	0.04
IGL03130:Ptpn12	APN	5	21002612	unclassified	probably benign
R0531:Ptpn12	UTSW	5	20998483	missense	possibly damaging	0.53
R0948:Ptpn12	UTSW	5	20998043	missense	probably benign
R1018:Ptpn12	UTSW	5	21029869	missense	possibly damaging	0.94
R1184:Ptpn12	UTSW	5	20998356	missense	possibly damaging	0.86
R1699:Ptpn12	UTSW	5	20998170	missense	probably benign	0.01
R1938:Ptpn12	UTSW	5	20993263	missense	probably damaging	1.00
R1952:Ptpn12	UTSW	5	20998310	missense	probably benign	0.34
R2152:Ptpn12	UTSW	5	21002468	missense	probably damaging	1.00
R2153:Ptpn12	UTSW	5	21002468	missense	probably damaging	1.00
R2154:Ptpn12	UTSW	5	21002468	missense	probably damaging	1.00
R2267:Ptpn12	UTSW	5	20998411	missense	probably damaging	0.98
R2358:Ptpn12	UTSW	5	20998692	missense	probably damaging	1.00
R3551:Ptpn12	UTSW	5	20989049	missense	possibly damaging	0.67
R3931:Ptpn12	UTSW	5	21001323	missense	probably benign	0.00
R4013:Ptpn12	UTSW	5	20992743	missense	probably benign	0.05
R4039:Ptpn12	UTSW	5	21002510	nonsense	probably null
R4501:Ptpn12	UTSW	5	21019280	missense	probably damaging	1.00
R4748:Ptpn12	UTSW	5	21005385	nonsense	probably null
R4754:Ptpn12	UTSW	5	20998589	missense	probably benign	0.34
R4963:Ptpn12	UTSW	5	21015708	splice site	probably null
R5160:Ptpn12	UTSW	5	20997831	missense	probably damaging	1.00
R5581:Ptpn12	UTSW	5	21015726	missense	probably damaging	1.00
R5789:Ptpn12	UTSW	5	20989015	missense	possibly damaging	0.92
R5836:Ptpn12	UTSW	5	21009546	nonsense	probably null
R6383:Ptpn12	UTSW	5	20987468	nonsense	probably null
R6883:Ptpn12	UTSW	5	21055713	missense	probably benign	0.40
R7544:Ptpn12	UTSW	5	21009511	missense	probably damaging	1.00
R7885:Ptpn12	UTSW	5	20998525	missense	possibly damaging	0.54
R7915:Ptpn12	UTSW	5	21009451	missense	probably damaging	1.00
R7960:Ptpn12	UTSW	5	21055689	missense	probably benign	0.01
R7976:Ptpn12	UTSW	5	21002633	nonsense	probably null
R8032:Ptpn12	UTSW	5	20998043	missense	probably benign
R8224:Ptpn12	UTSW	5	20998658	missense	probably damaging	1.00
R8473:Ptpn12	UTSW	5	20998359	missense	probably benign	0.00
R8823:Ptpn12	UTSW	5	20998623	missense	probably damaging	1.00
R9375:Ptpn12	UTSW	5	21019214	missense	probably benign	0.21
R9613:Ptpn12	UTSW	5	20998623	missense	probably damaging	1.00
R9707:Ptpn12	UTSW	5	21002622	missense	probably damaging	0.99
X0004:Ptpn12	UTSW	5	21019296	missense	probably damaging	1.00

Posted On

2011-07-12