Incidental Mutation 'IGL00820:Ptpn2'
ID13215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn2
Ensembl Gene ENSMUSG00000024539
Gene Nameprotein tyrosine phosphatase, non-receptor type 2
SynonymsPtpt, TC-PTP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00820
Quality Score
Status
Chromosome18
Chromosomal Location67665511-67724595 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 67675792 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Arginine at position 318 (I318R)
Ref Sequence ENSEMBL: ENSMUSP00000112675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025420] [ENSMUST00000120934] [ENSMUST00000122412]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025420
AA Change: I318R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025420
Gene: ENSMUSG00000024539
AA Change: I318R

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 287 376 7e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120934
AA Change: I299R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113182
Gene: ENSMUSG00000024539
AA Change: I299R

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 284 357 2e-27 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000122412
AA Change: I318R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112675
Gene: ENSMUSG00000024539
AA Change: I318R

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 287 399 9e-56 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128169
Coding Region Coverage
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. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a reduced life span, abnormalities of the hematopoietic system and an increased succeptibility to inflammatory disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A T 4: 41,507,178 L206Q probably damaging Het
Abcg3 T A 5: 104,936,012 I631F probably benign Het
Baiap3 T C 17: 25,248,690 D314G probably benign Het
Ccl1 T C 11: 82,178,088 E41G possibly damaging Het
Ephx1 T C 1: 180,999,821 Y89C possibly damaging Het
Fbxw18 G A 9: 109,693,369 T144I probably damaging Het
Galt C T 4: 41,758,570 A357V probably benign Het
Gfra1 T C 19: 58,263,905 probably benign Het
Hivep1 A T 13: 42,183,818 I2458L probably benign Het
Itga8 A G 2: 12,232,892 V339A possibly damaging Het
Klk1b8 T C 7: 43,954,786 I226T probably benign Het
Mfsd6 C T 1: 52,708,306 V467M probably damaging Het
Mrpl16 T C 19: 11,774,413 V179A probably benign Het
Olfr603 G A 7: 103,383,465 T179I probably damaging Het
Pnpla6 A G 8: 3,532,358 T693A possibly damaging Het
Slc17a2 A G 13: 23,819,334 H285R probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Sptb A G 12: 76,632,477 L68P probably damaging Het
Stxbp6 G A 12: 44,861,346 T163I probably damaging Het
Tex15 A G 8: 33,579,006 probably benign Het
Tti1 T C 2: 158,008,968 E117G probably damaging Het
Ube4b T C 4: 149,352,921 probably benign Het
Wipi1 A C 11: 109,583,119 probably benign Het
Zan A T 5: 137,386,364 C5133S unknown Het
Other mutations in Ptpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Ptpn2 APN 18 67681553 missense probably benign 0.00
IGL02999:Ptpn2 APN 18 67681510 missense probably damaging 0.99
R2075:Ptpn2 UTSW 18 67681475 missense probably damaging 0.97
R2273:Ptpn2 UTSW 18 67677802 missense probably damaging 0.99
R2391:Ptpn2 UTSW 18 67675889 splice site probably null
R6909:Ptpn2 UTSW 18 67675971 intron probably null
Posted On2012-12-06