Incidental Mutation 'R7439:Ptpn9'
ID 576826
Institutional Source Beutler Lab
Gene Symbol Ptpn9
Ensembl Gene ENSMUSG00000032290
Gene Name protein tyrosine phosphatase, non-receptor type 9
Synonyms Meg2
MMRRC Submission 045515-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.531) question?
Stock # R7439 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 56902252-56970092 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 56934717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 160 (Y160*)
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: Y160*
SMART Domains Protein: ENSMUSP00000034832
Gene: ENSMUSG00000032290
AA Change: Y160*

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 null
Transcript: ENSMUST00000216034
AA Change: Y83*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T C 4: 144,504,332 (GRCm39) D273G probably damaging Het
Acacb T C 5: 114,333,703 (GRCm39) V542A possibly damaging Het
Adprhl1 C T 8: 13,273,069 (GRCm39) V1230I probably benign Het
Agpat1 T A 17: 34,829,883 (GRCm39) Y77N probably damaging Het
Apc T A 18: 34,445,126 (GRCm39) I674K probably damaging Het
Arpc5 T C 1: 152,647,187 (GRCm39) S97P probably damaging Het
Arrdc5 A G 17: 56,604,931 (GRCm39) F119L probably benign Het
Asap1 A G 15: 64,002,105 (GRCm39) V402A probably damaging Het
Aspg T C 12: 112,091,255 (GRCm39) V479A possibly damaging Het
B3galnt2 G A 13: 14,169,070 (GRCm39) V368M probably benign Het
Bcl3 T C 7: 19,556,536 (GRCm39) T23A probably benign Het
Bpifb5 A G 2: 154,070,853 (GRCm39) K215E possibly damaging Het
Coa4 T A 7: 100,188,478 (GRCm39) C64S probably damaging Het
Dcun1d4 T C 5: 73,648,879 (GRCm39) probably null Het
Dnaaf5 T G 5: 139,151,868 (GRCm39) C506W probably damaging Het
Dock3 A G 9: 106,900,931 (GRCm39) Y345H probably damaging Het
Dscaml1 A G 9: 45,621,624 (GRCm39) N1024S possibly damaging Het
Dsp T C 13: 38,360,478 (GRCm39) probably null Het
Dsp A G 13: 38,379,425 (GRCm39) T2057A probably benign Het
Dync1h1 T G 12: 110,602,887 (GRCm39) L2176R probably damaging Het
Eif5b A C 1: 38,090,718 (GRCm39) D1192A probably benign Het
Epn2 A T 11: 61,437,674 (GRCm39) probably benign Het
Exoc1 T A 5: 76,693,195 (GRCm39) N360K probably benign Het
Fam135b A T 15: 71,335,529 (GRCm39) V555E probably damaging Het
Fmn1 A T 2: 113,271,956 (GRCm39) Q108L unknown Het
Gcc2 A G 10: 58,092,723 (GRCm39) T48A probably benign Het
Gm6619 T G 6: 131,467,354 (GRCm39) I73S possibly damaging Het
Gm8267 T A 14: 44,960,397 (GRCm39) D116V probably damaging Het
Hapln3 T A 7: 78,767,017 (GRCm39) T341S probably benign Het
Lamb3 C A 1: 193,014,474 (GRCm39) D544E possibly damaging Het
Lhx5 T A 5: 120,578,349 (GRCm39) S390T probably benign Het
Lrrc63 A G 14: 75,363,697 (GRCm39) S145P possibly damaging Het
Lrriq1 T C 10: 103,050,380 (GRCm39) M791V probably benign Het
Lyg2 A G 1: 37,950,218 (GRCm39) Y37H possibly damaging Het
Lyz3 G A 10: 117,074,602 (GRCm39) probably benign Het
Nrbp1 T A 5: 31,402,300 (GRCm39) M172K probably damaging Het
Or2l13b T G 16: 19,349,650 (GRCm39) S7R probably benign Het
Or4c126 A G 2: 89,824,183 (GRCm39) I149V probably benign Het
Or8u9 T A 2: 86,001,354 (GRCm39) D269V probably damaging Het
Pcyt2 A T 11: 120,502,209 (GRCm39) Y308N possibly damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Phf21b A G 15: 84,689,104 (GRCm39) S141P probably damaging Het
Pigh G A 12: 79,136,324 (GRCm39) P24S probably benign Het
Plekhg3 A G 12: 76,623,259 (GRCm39) D834G probably damaging Het
Plekhg5 T A 4: 152,198,392 (GRCm39) V860D probably benign Het
Pon1 A G 6: 5,177,399 (GRCm39) I170T probably damaging Het
Ptprj T C 2: 90,280,163 (GRCm39) K1045R possibly damaging Het
Rilpl2 T A 5: 124,601,851 (GRCm39) H196L probably benign Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rundc3a G T 11: 102,290,872 (GRCm39) probably null Het
Sgsm1 T C 5: 113,422,187 (GRCm39) Y489C probably damaging Het
Sis G A 3: 72,816,374 (GRCm39) H1531Y possibly damaging Het
Slc26a9 A G 1: 131,690,556 (GRCm39) Y520C probably damaging Het
Smc5 A G 19: 23,220,064 (GRCm39) V467A probably damaging Het
Spata20 G A 11: 94,374,867 (GRCm39) A245V probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Sucnr1 A G 3: 59,994,117 (GRCm39) Q215R probably benign Het
Supv3l1 G A 10: 62,266,394 (GRCm39) A594V probably damaging Het
Swt1 A T 1: 151,286,815 (GRCm39) F226I probably benign Het
Taar7f A G 10: 23,925,885 (GRCm39) T160A possibly damaging Het
Tada2a A T 11: 84,017,812 (GRCm39) probably null Het
Taok3 C A 5: 117,388,974 (GRCm39) Q460K probably damaging Het
Tasor T A 14: 27,193,602 (GRCm39) V934E probably damaging Het
Twf2 A G 9: 106,091,597 (GRCm39) E268G probably damaging Het
Upf2 A T 2: 6,023,743 (GRCm39) I698F unknown Het
Vmn2r35 T A 7: 7,820,013 (GRCm39) N86Y probably damaging Het
Vmn2r84 T C 10: 130,227,982 (GRCm39) T85A possibly damaging Het
Vps13d A G 4: 144,832,426 (GRCm39) S2833P Het
Xrn1 T C 9: 95,933,682 (GRCm39) S1584P probably benign Het
Zfp354b T C 11: 50,813,224 (GRCm39) Y567C probably damaging Het
Zfp52 A T 17: 21,781,132 (GRCm39) R327* probably null Het
Other mutations in Ptpn9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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

Sequencing Primer
Posted On 2019-10-07