Mutagenetix > Incidental Mutations

Incidental Mutation 'R5141:Ptpn9'

396475

Institutional Source

Beutler Lab

Gene Symbol

Ptpn9

Ensembl Gene

ENSMUSG00000032290

Gene Name

protein tyrosine phosphatase, non-receptor type 9

Synonyms

Meg2

MMRRC Submission

042727-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R5141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56994923-57062807 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57036676 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 278 (V278A)

Ref Sequence

ENSEMBL: ENSMUSP00000034832 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034832
AA Change: V278A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034832
Gene: ENSMUSG00000032290
AA Change: V278A

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

Meta Mutation Damage Score

0.1430

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (76/79)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,573,128	V193A	probably benign	Het
Adamts18	T	A	8: 113,775,270	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,156,850	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,270,918	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,499,722	E69G	probably damaging	Het
Akap13	C	A	7: 75,609,614	T662K	probably benign	Het
Alms1	A	G	6: 85,621,432	D1080G	probably benign	Het
Als2	T	C	1: 59,170,452	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,756,213		probably benign	Het
Apoo-ps	C	T	13: 107,414,395		noncoding transcript	Het
Aspscr1	G	A	11: 120,689,177	V181I	probably benign	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
C3	T	A	17: 57,219,570	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 122,635,021	G421R	probably benign	Het
Chmp4c	A	G	3: 10,367,153	E41G	probably damaging	Het
Clk4	T	A	11: 51,275,771	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,101,727	R25*	probably null	Het
Cul1	A	G	6: 47,520,839	D618G	probably benign	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dip2a	G	A	10: 76,270,453	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,368,862	I210V	probably benign	Het
Gm5773	T	A	3: 93,773,727	D235E	probably benign	Het
Gm7353	T	C	7: 3,111,001		noncoding transcript	Het
Gpi1	G	A	7: 34,227,096		probably benign	Het
Ing4	T	C	6: 125,039,874	M5T	probably benign	Het
Inpp4a	A	G	1: 37,380,087	I583V	probably benign	Het
Isyna1	T	C	8: 70,594,893	V64A	probably damaging	Het
Katnal2	T	A	18: 76,997,641	D310V	probably damaging	Het
Kbtbd8	A	G	6: 95,121,839	T126A	probably damaging	Het
Kif13a	T	C	13: 46,752,721	D582G	probably benign	Het
Lmf2	G	A	15: 89,351,607		probably null	Het
Lrp2	T	C	2: 69,552,349		probably null	Het
Lrp4	T	C	2: 91,478,678		probably benign	Het
Lyzl1	A	C	18: 4,169,209	D71A	possibly damaging	Het
Mak	C	T	13: 41,032,563	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,386,765	D404G	probably damaging	Het
Mdga1	C	T	17: 29,852,493	E385K	probably benign	Het
Mst1r	T	A	9: 107,912,241	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,814,742	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,112,837	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,825,390	R775H	probably damaging	Het
Olfr1228	A	C	2: 89,249,129	Y176*	probably null	Het
Olfr44	A	G	9: 39,484,531	F238L	probably damaging	Het
Olfr975	T	G	9: 39,949,874	K299T	probably benign	Het
Pcolce	G	T	5: 137,605,750	Q352K	probably benign	Het
Peg3	G	T	7: 6,709,382	T947N	probably benign	Het
Pld3	C	T	7: 27,533,795	D344N	probably damaging	Het
Plec	A	C	15: 76,190,533	D411E	probably damaging	Het
Pmp2	C	T	3: 10,182,414	D72N	probably benign	Het
Rbm33	A	G	5: 28,352,689	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,260,918	Q837R	probably benign	Het
Rwdd4a	T	C	8: 47,550,674		probably benign	Het
Sema6a	T	C	18: 47,248,388	T1048A	probably damaging	Het
Senp1	G	A	15: 98,076,607	A108V	probably benign	Het
Serpine2	G	T	1: 79,802,863	Q290K	possibly damaging	Het
Sesn1	A	G	10: 41,811,101	N27S	probably benign	Het
Shroom1	T	A	11: 53,463,982	L243*	probably null	Het
Slc17a5	A	G	9: 78,540,988	Y395H	probably damaging	Het
Slc5a8	T	C	10: 88,919,560		probably null	Het
Sptbn5	G	A	2: 120,061,731	S1083F	probably benign	Het
Stx4a	T	A	7: 127,846,615	V231E	probably damaging	Het
Swt1	A	T	1: 151,411,394	S116T	probably benign	Het
Syt9	C	T	7: 107,504,219	T408I	probably damaging	Het
Tgm7	T	C	2: 121,100,999	T228A	probably benign	Het
Tmem115	A	G	9: 107,537,942	D310G	probably benign	Het
Trcg1	G	A	9: 57,241,304	G53D	probably damaging	Het
Tsfm	T	C	10: 127,029,613	K100E	probably damaging	Het
Usp1	A	G	4: 98,934,209	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,748,077	A27E	unknown	Het
Vmn2r49	T	C	7: 9,986,373	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,808,706	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,187,021		probably benign	Het
Ythdc2	T	A	18: 44,865,047	S1094T	probably benign	Het
Zbtb22	C	G	17: 33,918,636	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,821,786	T184A	probably benign	Het

Other mutations in Ptpn9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Ptpn9	APN	9	57036703	missense	possibly damaging	0.68
IGL01388:Ptpn9	APN	9	57036718	missense	probably benign	0.00
IGL01953:Ptpn9	APN	9	57056788	missense	possibly damaging	0.69
IGL02525:Ptpn9	APN	9	57036725	nonsense	probably null
IGL03294:Ptpn9	APN	9	57027387	missense	possibly damaging	0.79
BB009:Ptpn9	UTSW	9	57036616	missense	possibly damaging	0.48
BB019:Ptpn9	UTSW	9	57036616	missense	possibly damaging	0.48
PIT4486001:Ptpn9	UTSW	9	57061003	missense	probably damaging	0.99
R0530:Ptpn9	UTSW	9	57061133	missense	probably benign
R1617:Ptpn9	UTSW	9	57027408	missense	possibly damaging	0.79
R1964:Ptpn9	UTSW	9	57059912	missense	probably damaging	1.00
R2426:Ptpn9	UTSW	9	57027428	missense	possibly damaging	0.61
R4394:Ptpn9	UTSW	9	57036563	missense	possibly damaging	0.91
R4606:Ptpn9	UTSW	9	57022211	missense	possibly damaging	0.71
R4658:Ptpn9	UTSW	9	57020037	missense	probably benign	0.01
R4660:Ptpn9	UTSW	9	57036498	missense	probably benign	0.17
R5150:Ptpn9	UTSW	9	57036670	missense	probably benign
R5289:Ptpn9	UTSW	9	57060063	critical splice donor site	probably null
R5389:Ptpn9	UTSW	9	57056837	intron	probably benign
R5422:Ptpn9	UTSW	9	57033157	missense	probably damaging	1.00
R5437:Ptpn9	UTSW	9	57020037	missense	possibly damaging	0.80
R6075:Ptpn9	UTSW	9	57061146	missense	probably benign	0.00
R6084:Ptpn9	UTSW	9	57033163	nonsense	probably null
R6481:Ptpn9	UTSW	9	57023040	missense	probably damaging	1.00
R7120:Ptpn9	UTSW	9	57059882	missense	probably damaging	1.00
R7194:Ptpn9	UTSW	9	57022286	missense	probably damaging	1.00
R7195:Ptpn9	UTSW	9	57022249	missense	probably benign	0.02
R7349:Ptpn9	UTSW	9	57044376	missense	probably benign	0.16
R7439:Ptpn9	UTSW	9	57027433	nonsense	probably null
R7441:Ptpn9	UTSW	9	57027433	nonsense	probably null
R7801:Ptpn9	UTSW	9	57061013	missense	probably benign	0.36
R7879:Ptpn9	UTSW	9	57056726	missense	possibly damaging	0.50
R7932:Ptpn9	UTSW	9	57036616	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TATCCTTGCACACCGACAGC -3'
(R):5'- GTAACTGATTGTGACCCAAACC -3'

Sequencing Primer
(F):5'- GACAGCCCAAGTACTCAATGTTGTTC -3'
(R):5'- TAACTGATTGTGACCCAAACCTCTCC -3'

Posted On

2016-06-21