Mutagenetix > Incidental Mutations

Incidental Mutation 'R6084:Ptpn9'

482399

Institutional Source

Beutler Lab

Gene Symbol

Ptpn9

Ensembl Gene

ENSMUSG00000032290

Gene Name

protein tyrosine phosphatase, non-receptor type 9

Synonyms

Meg2

MMRRC Submission

044243-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.509) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56994923-57062807 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 57033163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 196 (R196*)

Ref Sequence

ENSEMBL: ENSMUSP00000034832 (fasta)

Gene Model

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

AlphaFold

O35239

Predicted Effect

probably null
Transcript: ENSMUST00000034832
AA Change: R196*

SMART Domains

Protein: ENSMUSP00000034832
Gene: ENSMUSG00000032290
AA Change: R196*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTTCTCTGTTGCCTATG -3'
(R):5'- GTGAAGGCATCGTGTCACAG -3'

Posted On

2017-07-14