Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Ptpn12'

584072

Institutional Source

Beutler Lab

Gene Symbol

Ptpn12

Ensembl Gene

ENSMUSG00000028771

Gene Name

protein tyrosine phosphatase, non-receptor type 12

Synonyms

PTP-PEST, PTP-P19, P19-PTP

MMRRC Submission

045616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21191643-21260909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21214509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 209 (I209T)

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: I209T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: I209T

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

probably benign
Transcript: ENSMUST00000199774

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,089,765 (GRCm39)	V40I	probably damaging	Het
Abcb11	T	C	2: 69,095,830 (GRCm39)	K837E	probably benign	Het
Arhgef10	T	C	8: 15,029,854 (GRCm39)	S919P	probably benign	Het
Atxn2	T	C	5: 121,919,431 (GRCm39)	S530P	probably damaging	Het
Bicc1	T	C	10: 70,792,204 (GRCm39)	E268G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Capn7	T	G	14: 31,062,007 (GRCm39)	L40V	probably damaging	Het
Cd28	A	T	1: 60,808,859 (GRCm39)	N191I	probably damaging	Het
Cfap69	G	A	5: 5,645,936 (GRCm39)	T588M	not run	Het
Csmd1	T	C	8: 16,142,310 (GRCm39)	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,348,283 (GRCm39)	D398V	probably damaging	Het
Dchs2	T	C	3: 83,262,434 (GRCm39)	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,433,280 (GRCm39)	G37S	probably damaging	Het
Diaph1	A	T	18: 38,026,322 (GRCm39)		probably null	Het
Ech1	T	C	7: 28,525,392 (GRCm39)	V49A	probably benign	Het
Elovl4	T	C	9: 83,665,271 (GRCm39)	Y196C	probably damaging	Het
Ern2	G	A	7: 121,772,422 (GRCm39)	L679F	probably benign	Het
Fbf1	A	T	11: 116,056,659 (GRCm39)	M17K	probably benign	Het
Flvcr1	C	A	1: 190,758,143 (GRCm39)	G50W	probably damaging	Het
Fryl	A	G	5: 73,238,382 (GRCm39)	S1455P	probably benign	Het
Fzd9	A	G	5: 135,278,716 (GRCm39)	Y390H	probably damaging	Het
Gnai3	C	T	3: 108,025,702 (GRCm39)	V126M		Het
Gpc5	T	C	14: 115,665,585 (GRCm39)	F470L	probably damaging	Het
Grin1	T	C	2: 25,195,086 (GRCm39)	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,469,554 (GRCm39)	I117F	possibly damaging	Het
Hydin	A	T	8: 111,316,157 (GRCm39)	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,647,906 (GRCm39)	H152Q	probably benign	Het
Kcnk12	A	T	17: 88,053,493 (GRCm39)	S390T	possibly damaging	Het
Klra9	T	G	6: 130,168,183 (GRCm39)	T28P	probably benign	Het
Lef1	T	A	3: 130,988,414 (GRCm39)	I327N	probably damaging	Het
Lin54	A	G	5: 100,633,129 (GRCm39)	V185A	possibly damaging	Het
Lrrc37	T	C	11: 103,506,274 (GRCm39)	E1898G	probably benign	Het
Lrrc4b	A	T	7: 44,111,975 (GRCm39)	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Mars1	T	C	10: 127,147,479 (GRCm39)	E7G	probably benign	Het
Mpnd	G	A	17: 56,318,666 (GRCm39)	R225H	probably benign	Het
Muc4	T	A	16: 32,555,016 (GRCm39)	M1K	probably null	Het
Nckap5	A	G	1: 125,953,948 (GRCm39)	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,830,256 (GRCm39)	T618M	probably damaging	Het
Npas1	A	T	7: 16,194,899 (GRCm39)		probably null	Het
Nr2f2	A	T	7: 70,004,499 (GRCm39)	V384D	probably damaging	Het
Or10a3b	A	G	7: 108,444,528 (GRCm39)	S230P	probably benign	Het
Or1e19	A	G	11: 73,316,596 (GRCm39)	L71P	probably damaging	Het
Or4p8	T	A	2: 88,727,705 (GRCm39)	I79F	probably damaging	Het
Paip1	T	A	13: 119,582,337 (GRCm39)	F188I	probably damaging	Het
Pcdha4	A	T	18: 37,086,776 (GRCm39)	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427 (GRCm39)		probably null	Het
Pgpep1	C	T	8: 71,103,168 (GRCm39)	G110R	unknown	Het
Pidd1	T	A	7: 141,020,252 (GRCm39)	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,439,776 (GRCm39)		probably null	Het
Pramel18	T	C	4: 101,768,599 (GRCm39)	S317P	possibly damaging	Het
Pramel51	T	A	12: 88,142,850 (GRCm39)	Y451F	probably benign	Het
Prkcg	A	G	7: 3,359,081 (GRCm39)	D96G	probably benign	Het
Prpf40b	A	G	15: 99,203,899 (GRCm39)	N154S	probably benign	Het
Psg17	A	G	7: 18,553,897 (GRCm39)	Y118H	probably benign	Het
Reln	T	A	5: 22,181,276 (GRCm39)	K1835*	probably null	Het
Sf3b3	T	C	8: 111,564,915 (GRCm39)	M298V	probably benign	Het
Slc5a3	T	A	16: 91,874,682 (GRCm39)	N246K	probably benign	Het
Slmap	T	A	14: 26,151,001 (GRCm39)	E522D	probably damaging	Het
Slmap	C	T	14: 26,151,003 (GRCm39)	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,581,260 (GRCm39)	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,878,942 (GRCm39)		probably null	Het
Tet3	A	T	6: 83,381,623 (GRCm39)	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,121,895 (GRCm39)	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,171,040 (GRCm39)		probably benign	Het
Trak2	A	T	1: 58,960,227 (GRCm39)		probably null	Het
Trappc11	T	A	8: 47,975,449 (GRCm39)	E256D	possibly damaging	Het
Trim62	C	T	4: 128,796,346 (GRCm39)	T281I	probably benign	Het
Trip13	T	C	13: 74,081,021 (GRCm39)	E115G	probably benign	Het
Trp63	A	G	16: 25,620,837 (GRCm39)	T10A	probably benign	Het
Urah	A	T	7: 140,415,565 (GRCm39)	H11L	probably damaging	Het
Usp39	G	A	6: 72,319,891 (GRCm39)	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,128,738 (GRCm39)	T468A	probably benign	Het
Zfhx4	T	G	3: 5,477,875 (GRCm39)	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,897,184 (GRCm39)	R296H	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
IGL01432:Ptpn12	APN	5	21,203,553 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CACACCATAACAGGGCTAGG -3'
(R):5'- GACGTGGAATACATAGCTTACAAG -3'

Sequencing Primer
(F):5'- CACCATAACAGGGCTAGGAAAAGC -3'
(R):5'- GTCTTCAGACACACCGGTAGAG -3'

Posted On

2019-10-17