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: 0.640) question?

Stock #

R2426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56994923-57062807 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57027428 bp (GRCm38)

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
0610010F05Rik	T	A	11: 23,576,801	R190W	probably damaging	Het
Abca14	G	T	7: 120,283,223	V1203L	probably benign	Het
Adamtsl1	G	A	4: 86,156,788	V131I	probably benign	Het
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Agbl1	T	C	7: 76,421,902	V324A	probably damaging	Het
Ahnak	A	T	19: 9,002,851	I500F	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,284	D851G	probably damaging	Het
Amot	T	C	X: 145,476,291	K460E	probably damaging	Het
Arhgef3	G	T	14: 27,384,181	E161*	probably null	Het
Atg9b	A	T	5: 24,386,994	I669N	probably damaging	Het
AY761184	T	G	8: 21,702,637	K114N	possibly damaging	Het
Ccdc83	A	G	7: 90,228,431	Y268H	probably damaging	Het
Cep170	A	G	1: 176,774,635	S302P	probably benign	Het
Cyp4a31	T	A	4: 115,571,016	M303K	probably damaging	Het
Cyp4v3	T	A	8: 45,317,776	Y231F	probably benign	Het
Dock3	A	T	9: 106,914,541	L1411Q	possibly damaging	Het
Dsg1a	T	A	18: 20,336,804	I629N	probably damaging	Het
Dst	A	T	1: 34,192,812	H2837L	probably benign	Het
Fam114a2	G	A	11: 57,493,080	P343L	probably benign	Het
Fbrs	A	G	7: 127,487,339		probably null	Het
Fbxl13	A	C	5: 21,522,137	D620E	probably damaging	Het
Frmd4a	T	A	2: 4,529,862	S164T	probably damaging	Het
Gdi2	T	G	13: 3,562,034	S330A	probably benign	Het
Gm5878	A	T	6: 85,118,631	M70K	probably benign	Het
H2-Q6	G	T	17: 35,424,937	A21S	probably benign	Het
Hfm1	A	T	5: 106,847,653		probably null	Het
Hnmt	C	T	2: 24,019,155	C82Y	probably benign	Het
Il1rl1	C	A	1: 40,446,619	A310D	probably damaging	Het
Ints1	A	T	5: 139,771,814		probably null	Het
Kcne4	C	A	1: 78,817,971	A112E	possibly damaging	Het
Krt32	T	C	11: 100,086,366	K236R	possibly damaging	Het
Maml2	T	C	9: 13,706,498	L380P	probably damaging	Het
Meis1	A	T	11: 18,988,356	D218E	possibly damaging	Het
Mon1b	G	A	8: 113,639,120	G360D	probably damaging	Het
Mpp4	A	G	1: 59,130,057	S383P	probably damaging	Het
Neb	A	G	2: 52,169,053		probably null	Het
Nlgn2	A	T	11: 69,827,086	I431N	probably damaging	Het
Nr2e1	A	G	10: 42,563,485	L134P	probably damaging	Het
Olfr329-ps	A	T	11: 58,543,094	Y127*	probably null	Het
Olfr371	T	C	8: 85,231,064	S190P	probably damaging	Het
Olfr777	T	C	10: 129,269,266	Q19R	probably benign	Het
Opcml	G	A	9: 28,903,367		probably null	Het
Pate2	A	T	9: 35,670,480		probably null	Het
Pgr	G	A	9: 8,900,717	V84M	probably damaging	Het
Pigu	A	T	2: 155,299,082	V296D	probably damaging	Het
Plcb2	G	A	2: 118,715,649	T555M	probably damaging	Het
Pld5	T	G	1: 175,963,976	D426A	probably benign	Het
Prdm2	G	T	4: 143,111,750	C1679*	probably null	Het
Psme2b	A	T	11: 48,946,063	V19D	probably benign	Het
Sdc3	A	T	4: 130,818,803	T64S	unknown	Het
Serping1	T	G	2: 84,770,219	S260R	probably damaging	Het
Slc20a1	T	C	2: 129,208,230	F436S	probably benign	Het
Sntb1	A	T	15: 55,906,179	I138N	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Spink1	G	T	18: 43,735,222	S23*	probably null	Het
Stag1	T	C	9: 100,845,116		probably null	Het
Tnfaip8l1	G	A	17: 56,172,030	V107I	probably benign	Het
Tnik	A	G	3: 28,646,681	S907G	probably damaging	Het
Ttf1	T	A	2: 29,067,185	M489K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp54	G	A	14: 20,564,940	A811V	probably benign	Het
Xirp2	A	G	2: 67,514,471	N2352S	probably benign	Het
Zan	T	C	5: 137,388,992	Y4933C	unknown	Het
Zbtb8a	A	G	4: 129,360,219	S161P	probably benign	Het
Zkscan5	A	T	5: 145,220,940	I751L	probably benign	Het
Zscan4d	A	G	7: 11,165,095	F85S	probably damaging	Het
Zzef1	A	G	11: 72,915,265	M2647V	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
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
R5141:Ptpn9	UTSW	9	57036676	missense	possibly damaging	0.56
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
R9323:Ptpn9	UTSW	9	57027417	missense	possibly damaging	0.93
R9433:Ptpn9	UTSW	9	57056726	missense	possibly damaging	0.50
R9614:Ptpn9	UTSW	9	57036721	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