Mutagenetix > Incidental Mutation

Incidental Mutation 'R9433:Ptpn9'

713108

Institutional Source

Beutler Lab

Gene Symbol

Ptpn9

Ensembl Gene

ENSMUSG00000032290

Gene Name

protein tyrosine phosphatase, non-receptor type 9

Synonyms

Meg2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

R9433 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56902252-56970092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56964010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 381 (N381I)

Ref Sequence

ENSEMBL: ENSMUSP00000034832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034832]

AlphaFold

O35239

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034832
AA Change: N381I

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034832
Gene: ENSMUSG00000032290
AA Change: N381I

Domain	Start	End	E-Value	Type
CRAL_TRIO_N	43	68	1.14e0	SMART
SEC14	90	240	7.33e-40	SMART
PTPc	302	576	1.01e-136	SMART

Coding Region Coverage

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

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 PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display hemorrhages, craniofacial anomalies, neural tube defects such as exencephaly and meningomyeloceles, cerebral infarctions, abnormal bone development, and >90% late embryonic lethality in addition to severe defectsin T lymphocyte and platelet activation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrv1	A	T	13: 81,714,471 (GRCm39)	F937L	probably benign	Het
Adipor2	A	T	6: 119,336,486 (GRCm39)	F159Y	probably damaging	Het
Ahcyl1	A	G	3: 107,575,645 (GRCm39)	V380A	probably damaging	Het
Akp3	A	G	1: 87,053,517 (GRCm39)	K157E	probably benign	Het
Arpc1a	T	A	5: 145,045,203 (GRCm39)	I364N	possibly damaging	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
Brms1l	G	A	12: 55,912,863 (GRCm39)		probably null	Het
Camk1d	A	G	2: 5,680,777 (GRCm39)	S6P	unknown	Het
Ccdc112	C	A	18: 46,424,040 (GRCm39)	V233L	probably benign	Het
Ccdc113	A	T	8: 96,272,613 (GRCm39)	N240I	possibly damaging	Het
Ccdc168	A	T	1: 44,095,668 (GRCm39)	V1810E	possibly damaging	Het
Ccdc6	T	C	10: 70,004,951 (GRCm39)	V232A	possibly damaging	Het
Cct5	A	G	15: 31,592,883 (GRCm39)	I409T	possibly damaging	Het
Cd96	A	G	16: 45,856,298 (GRCm39)	Y583H	probably damaging	Het
Cdh22	C	T	2: 164,954,329 (GRCm39)	V731M	probably benign	Het
Clcn1	C	T	6: 42,282,494 (GRCm39)	P521S	probably damaging	Het
Clec18a	C	T	8: 111,808,322 (GRCm39)	A27T	probably benign	Het
Cnnm2	C	T	19: 46,750,807 (GRCm39)	A199V	probably benign	Het
Copg1	G	A	6: 87,880,478 (GRCm39)	A494T	possibly damaging	Het
Cpsf2	A	G	12: 101,948,252 (GRCm39)	E16G	probably damaging	Het
Cyp2j5	T	A	4: 96,552,244 (GRCm39)	I2F	probably benign	Het
Dgkg	T	A	16: 22,384,065 (GRCm39)	N463Y	probably damaging	Het
Dnah11	T	C	12: 117,976,007 (GRCm39)	D2804G	probably damaging	Het
Efcab12	T	C	6: 115,792,995 (GRCm39)	N488D	probably benign	Het
Etv5	G	A	16: 22,254,668 (GRCm39)	P64L	probably damaging	Het
Fbrs	A	G	7: 127,084,272 (GRCm39)	E468G	probably benign	Het
Fcho1	A	T	8: 72,169,468 (GRCm39)	M146K	probably benign	Het
Gad1	A	T	2: 70,423,807 (GRCm39)	M405L		Het
Gcc2	T	A	10: 58,106,592 (GRCm39)	H609Q	probably benign	Het
Gm11983	A	T	11: 6,786,902 (GRCm39)	M75K	unknown	Het
Gm4353	T	A	7: 115,682,871 (GRCm39)	I237F	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hcn4	A	G	9: 58,731,222 (GRCm39)	D143G	unknown	Het
Id1	T	A	2: 152,578,430 (GRCm39)	V57D	probably damaging	Het
Ifna13	T	C	4: 88,562,540 (GRCm39)	Q28R	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,875,538 (GRCm39)		probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mia2	A	G	12: 59,148,371 (GRCm39)	E77G	probably damaging	Het
Muc16	T	A	9: 18,483,937 (GRCm39)	Q6945L	probably benign	Het
Nos2	G	A	11: 78,850,490 (GRCm39)	R1116H	probably damaging	Het
Or2w4	C	T	13: 21,795,224 (GRCm39)	C305Y	probably benign	Het
Parpbp	A	C	10: 87,975,858 (GRCm39)	V85G	probably benign	Het
Pcmtd2	C	T	2: 181,496,837 (GRCm39)	H273Y	possibly damaging	Het
Pcp4l1	C	T	1: 171,001,998 (GRCm39)	G54D	probably damaging	Het
Pkdrej	T	C	15: 85,704,070 (GRCm39)	H622R	probably benign	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Pnpla8	T	C	12: 44,330,305 (GRCm39)	S286P	probably damaging	Het
Prss36	C	T	7: 127,533,339 (GRCm39)	V631I	probably benign	Het
Ranbp9	A	T	13: 43,576,041 (GRCm39)	I222N	probably damaging	Het
Rev1	T	C	1: 38,092,173 (GRCm39)	T1249A	probably damaging	Het
Ripply2	G	T	9: 86,901,715 (GRCm39)	W80C	probably damaging	Het
Rnaseh2b	C	A	14: 62,602,722 (GRCm39)	P235Q	probably benign	Het
Sacs	T	A	14: 61,443,997 (GRCm39)	F2014L	probably damaging	Het
Serpinb9f	A	G	13: 33,518,238 (GRCm39)	N246S	probably benign	Het
Sh3pxd2a	A	T	19: 47,255,539 (GRCm39)	S1088T	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	A	G	4: 112,137,432 (GRCm39)	I367V	probably benign	Het
Slc20a2	G	T	8: 23,051,211 (GRCm39)	E415*	probably null	Het
Slc5a1	T	A	5: 33,310,025 (GRCm39)	S418T	probably benign	Het
Spats2	G	T	15: 99,076,446 (GRCm39)	G175*	probably null	Het
Srebf1	A	T	11: 60,095,015 (GRCm39)	F485L	possibly damaging	Het
St8sia4	A	G	1: 95,555,364 (GRCm39)	V222A		Het
Stab1	C	T	14: 30,865,531 (GRCm39)	E1786K	probably benign	Het
Stat2	A	G	10: 128,112,657 (GRCm39)	M58V	probably benign	Het
Stat5a	A	G	11: 100,765,870 (GRCm39)	T319A	probably benign	Het
Sufu	A	G	19: 46,385,532 (GRCm39)		probably benign	Het
Tle6	T	A	10: 81,426,880 (GRCm39)	I579F	probably damaging	Het
Tmem131l	A	T	3: 83,845,459 (GRCm39)	D390E	probably benign	Het
Trim33	T	A	3: 103,228,979 (GRCm39)		probably null	Het
Usp54	A	G	14: 20,611,678 (GRCm39)	V1046A	probably benign	Het
Vit	G	A	17: 78,932,413 (GRCm39)	G507R	probably damaging	Het
Vmn2r59	A	G	7: 41,695,590 (GRCm39)	I274T	probably damaging	Het
Vmn2r67	T	A	7: 84,804,917 (GRCm39)	K65M	possibly damaging	Het
Vmn2r86	C	T	10: 130,282,567 (GRCm39)	G683E	possibly damaging	Het
Vwa8	T	C	14: 79,335,871 (GRCm39)		probably null	Het
Zdhhc14	A	G	17: 5,781,779 (GRCm39)	D333G	probably benign	Het
Zup1	G	A	10: 33,795,355 (GRCm39)	S568L	probably damaging	Het

Other mutations in Ptpn9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Ptpn9	APN	9	56,943,987 (GRCm39)	missense	possibly damaging	0.68
IGL01388:Ptpn9	APN	9	56,944,002 (GRCm39)	missense	probably benign	0.00
IGL01953:Ptpn9	APN	9	56,964,072 (GRCm39)	missense	possibly damaging	0.69
IGL02525:Ptpn9	APN	9	56,944,009 (GRCm39)	nonsense	probably null
IGL03294:Ptpn9	APN	9	56,934,671 (GRCm39)	missense	possibly damaging	0.79
BB009:Ptpn9	UTSW	9	56,943,900 (GRCm39)	missense	possibly damaging	0.48
BB019:Ptpn9	UTSW	9	56,943,900 (GRCm39)	missense	possibly damaging	0.48
PIT4486001:Ptpn9	UTSW	9	56,968,287 (GRCm39)	missense	probably damaging	0.99
R0530:Ptpn9	UTSW	9	56,968,417 (GRCm39)	missense	probably benign
R1617:Ptpn9	UTSW	9	56,934,692 (GRCm39)	missense	possibly damaging	0.79
R1964:Ptpn9	UTSW	9	56,967,196 (GRCm39)	missense	probably damaging	1.00
R2426:Ptpn9	UTSW	9	56,934,712 (GRCm39)	missense	possibly damaging	0.61
R4394:Ptpn9	UTSW	9	56,943,847 (GRCm39)	missense	possibly damaging	0.91
R4606:Ptpn9	UTSW	9	56,929,495 (GRCm39)	missense	possibly damaging	0.71
R4658:Ptpn9	UTSW	9	56,927,321 (GRCm39)	missense	probably benign	0.01
R4660:Ptpn9	UTSW	9	56,943,782 (GRCm39)	missense	probably benign	0.17
R5141:Ptpn9	UTSW	9	56,943,960 (GRCm39)	missense	possibly damaging	0.56
R5150:Ptpn9	UTSW	9	56,943,954 (GRCm39)	missense	probably benign
R5289:Ptpn9	UTSW	9	56,967,347 (GRCm39)	critical splice donor site	probably null
R5389:Ptpn9	UTSW	9	56,964,121 (GRCm39)	intron	probably benign
R5422:Ptpn9	UTSW	9	56,940,441 (GRCm39)	missense	probably damaging	1.00
R5437:Ptpn9	UTSW	9	56,927,321 (GRCm39)	missense	possibly damaging	0.80
R6075:Ptpn9	UTSW	9	56,968,430 (GRCm39)	missense	probably benign	0.00
R6084:Ptpn9	UTSW	9	56,940,447 (GRCm39)	nonsense	probably null
R6481:Ptpn9	UTSW	9	56,930,324 (GRCm39)	missense	probably damaging	1.00
R7120:Ptpn9	UTSW	9	56,967,166 (GRCm39)	missense	probably damaging	1.00
R7194:Ptpn9	UTSW	9	56,929,570 (GRCm39)	missense	probably damaging	1.00
R7195:Ptpn9	UTSW	9	56,929,533 (GRCm39)	missense	probably benign	0.02
R7349:Ptpn9	UTSW	9	56,951,660 (GRCm39)	missense	probably benign	0.16
R7439:Ptpn9	UTSW	9	56,934,717 (GRCm39)	nonsense	probably null
R7441:Ptpn9	UTSW	9	56,934,717 (GRCm39)	nonsense	probably null
R7801:Ptpn9	UTSW	9	56,968,297 (GRCm39)	missense	probably benign	0.36
R7879:Ptpn9	UTSW	9	56,964,010 (GRCm39)	missense	possibly damaging	0.50
R7932:Ptpn9	UTSW	9	56,943,900 (GRCm39)	missense	possibly damaging	0.48
R9323:Ptpn9	UTSW	9	56,934,701 (GRCm39)	missense	possibly damaging	0.93
R9614:Ptpn9	UTSW	9	56,944,005 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCTTGCTGAATAAGGAGAGC -3'
(R):5'- GGCTAACACTATCTCCACTGTG -3'

Sequencing Primer
(F):5'- GCTAAGACAAGGCTCATATGAATAC -3'
(R):5'- ACTGTGTCCTACCATGTTAACTATAG -3'

Posted On

2022-05-16