Mutagenetix > Incidental Mutation

Incidental Mutation 'R2426:Ptpn9'

250230

Institutional Source

Beutler Lab

Gene Symbol

Ptpn9

Ensembl Gene

ENSMUSG00000032290

Gene Name

protein tyrosine phosphatase, non-receptor type 9

Synonyms

Meg2

MMRRC Submission

040388-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.531) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56902252-56970092 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56934712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 159 (N159Y)

Ref Sequence

ENSEMBL: ENSMUSP00000034832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034832] [ENSMUST00000216034]

AlphaFold

O35239

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034832
AA Change: N159Y

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034832
Gene: ENSMUSG00000032290
AA Change: N159Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216034
AA Change: N82Y

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	T	7: 119,882,446 (GRCm39)	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,075,025 (GRCm39)	V131I	probably benign	Het
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,071,650 (GRCm39)	V324A	probably damaging	Het
Ahnak	A	T	19: 8,980,215 (GRCm39)	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,575,266 (GRCm39)	D851G	probably damaging	Het
Amot	T	C	X: 144,259,287 (GRCm39)	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,106,138 (GRCm39)	E161*	probably null	Het
Atg9b	A	T	5: 24,591,992 (GRCm39)	I669N	probably damaging	Het
Ccdc83	A	G	7: 89,877,639 (GRCm39)	Y268H	probably damaging	Het
Cep170	A	G	1: 176,602,201 (GRCm39)	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,428,213 (GRCm39)	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,770,813 (GRCm39)	Y231F	probably benign	Het
Defa39	T	G	8: 22,192,653 (GRCm39)	K114N	possibly damaging	Het
Dock3	A	T	9: 106,791,740 (GRCm39)	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,469,861 (GRCm39)	I629N	probably damaging	Het
Dst	A	T	1: 34,231,893 (GRCm39)	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,383,906 (GRCm39)	P343L	probably benign	Het
Fbrs	A	G	7: 127,086,511 (GRCm39)		probably null	Het
Fbxl13	A	C	5: 21,727,135 (GRCm39)	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,534,673 (GRCm39)	S164T	probably damaging	Het
Gdi2	T	G	13: 3,612,034 (GRCm39)	S330A	probably benign	Het
Gm5878	A	T	6: 85,095,613 (GRCm39)	M70K	probably benign	Het
H2-Q6	G	T	17: 35,643,913 (GRCm39)	A21S	probably benign	Het
Hfm1	A	T	5: 106,995,519 (GRCm39)		probably null	Het
Hnmt	C	T	2: 23,909,167 (GRCm39)	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,485,779 (GRCm39)	A310D	probably damaging	Het
Ints1	A	T	5: 139,757,569 (GRCm39)		probably null	Het
Kcne4	C	A	1: 78,795,688 (GRCm39)	A112E	possibly damaging	Het
Krt32	T	C	11: 99,977,192 (GRCm39)	K236R	possibly damaging	Het
Maml2	T	C	9: 13,617,794 (GRCm39)	L380P	probably damaging	Het
Meis1	A	T	11: 18,938,356 (GRCm39)	D218E	possibly damaging	Het
Mon1b	G	A	8: 114,365,752 (GRCm39)	G360D	probably damaging	Het
Mpp4	A	G	1: 59,169,216 (GRCm39)	S383P	probably damaging	Het
Neb	A	G	2: 52,059,065 (GRCm39)		probably null	Het
Nlgn2	A	T	11: 69,717,912 (GRCm39)	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,439,481 (GRCm39)	L134P	probably damaging	Het
Opcml	G	A	9: 28,814,663 (GRCm39)		probably null	Het
Or2t29	A	T	11: 58,433,920 (GRCm39)	Y127*	probably null	Het
Or6c207	T	C	10: 129,105,135 (GRCm39)	Q19R	probably benign	Het
Or7c19	T	C	8: 85,957,693 (GRCm39)	S190P	probably damaging	Het
Pate2	A	T	9: 35,581,776 (GRCm39)		probably null	Het
Pgr	G	A	9: 8,900,718 (GRCm39)	V84M	probably damaging	Het
Pigu	A	T	2: 155,141,002 (GRCm39)	V296D	probably damaging	Het
Plcb2	G	A	2: 118,546,130 (GRCm39)	T555M	probably damaging	Het
Pld5	T	G	1: 175,791,542 (GRCm39)	D426A	probably benign	Het
Prdm2	G	T	4: 142,838,320 (GRCm39)	C1679*	probably null	Het
Psme2b	A	T	11: 48,836,890 (GRCm39)	V19D	probably benign	Het
Sanbr	T	A	11: 23,526,801 (GRCm39)	R190W	probably damaging	Het
Sdc3	A	T	4: 130,546,114 (GRCm39)	T64S	unknown	Het
Serping1	T	G	2: 84,600,563 (GRCm39)	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,050,150 (GRCm39)	F436S	probably benign	Het
Sntb1	A	T	15: 55,769,575 (GRCm39)	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Spink1	G	T	18: 43,868,287 (GRCm39)	S23*	probably null	Het
Stag1	T	C	9: 100,727,169 (GRCm39)		probably null	Het
Tnfaip8l1	G	A	17: 56,479,030 (GRCm39)	V107I	probably benign	Het
Tnik	A	G	3: 28,700,830 (GRCm39)	S907G	probably damaging	Het
Ttf1	T	A	2: 28,957,197 (GRCm39)	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp54	G	A	14: 20,615,008 (GRCm39)	A811V	probably benign	Het
Xirp2	A	G	2: 67,344,815 (GRCm39)	N2352S	probably benign	Het
Zan	T	C	5: 137,387,254 (GRCm39)	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,254,012 (GRCm39)	S161P	probably benign	Het
Zkscan5	A	T	5: 145,157,750 (GRCm39)	I751L	probably benign	Het
Zscan4d	A	G	7: 10,899,022 (GRCm39)	F85S	probably damaging	Het
Zzef1	A	G	11: 72,806,091 (GRCm39)	M2647V	probably benign	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
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
R9433:Ptpn9	UTSW	9	56,964,010 (GRCm39)	missense	possibly damaging	0.50
R9614:Ptpn9	UTSW	9	56,944,005 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTCCTGTCTAGAAATAGTGCAAAC -3'
(R):5'- GCCATCTCAAATCTTTCAACTTGAC -3'

Sequencing Primer
(F):5'- ACTTCATATCTGACAGGTGAGATGGC -3'
(R):5'- GGTGACCTTTAAAATTGAACAT -3'

Posted On

2014-11-12