Incidental Mutation 'IGL01538:Ptpn2'
ID 90061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn2
Ensembl Gene ENSMUSG00000024539
Gene Name protein tyrosine phosphatase, non-receptor type 2
Synonyms Ptpt, TC-PTP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01538
Quality Score
Status
Chromosome 18
Chromosomal Location 67798581-67857665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67814623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 129 (T129A)
Ref Sequence ENSEMBL: ENSMUSP00000113182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025420] [ENSMUST00000120934] [ENSMUST00000122412]
AlphaFold Q06180
Predicted Effect probably benign
Transcript: ENSMUST00000025420
AA Change: T129A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025420
Gene: ENSMUSG00000024539
AA Change: T129A

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 287 376 7e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120934
AA Change: T129A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000113182
Gene: ENSMUSG00000024539
AA Change: T129A

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 284 357 2e-27 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000122412
AA Change: T129A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112675
Gene: ENSMUSG00000024539
AA Change: T129A

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,708,032 (GRCm39) noncoding transcript Het
Abca3 G T 17: 24,595,447 (GRCm39) C328F possibly damaging Het
Aldh5a1 T C 13: 25,102,495 (GRCm39) N323D possibly damaging Het
Atp5f1c T C 2: 10,073,477 (GRCm39) Y32C probably damaging Het
Capn3 T G 2: 120,332,667 (GRCm39) probably null Het
Ccdc113 C A 8: 96,277,866 (GRCm39) D275E probably benign Het
Ccdc40 T A 11: 119,133,545 (GRCm39) F562I possibly damaging Het
Ccn6 A G 10: 39,034,306 (GRCm39) Y99H probably damaging Het
Cd96 T C 16: 45,929,490 (GRCm39) T152A possibly damaging Het
Cdh20 T A 1: 109,988,870 (GRCm39) D257E probably damaging Het
Cilp2 T C 8: 70,333,854 (GRCm39) D1048G probably benign Het
Clrn2 T G 5: 45,617,408 (GRCm39) L93R probably damaging Het
Crat C A 2: 30,299,978 (GRCm39) G134V probably damaging Het
Dis3 A T 14: 99,335,181 (GRCm39) N140K probably benign Het
Dmxl2 T A 9: 54,352,660 (GRCm39) probably benign Het
Dus1l T A 11: 120,683,905 (GRCm39) Q181L probably damaging Het
Ece1 A G 4: 137,675,855 (GRCm39) T410A probably benign Het
Gcc1 T A 6: 28,421,047 (GRCm39) H90L probably damaging Het
Gpr152 T A 19: 4,192,951 (GRCm39) V164E probably damaging Het
Grik3 A C 4: 125,587,829 (GRCm39) I650L possibly damaging Het
Gvin3 T C 7: 106,201,744 (GRCm39) D500G probably damaging Het
Gzmm A T 10: 79,530,896 (GRCm39) T233S probably benign Het
H2-Q4 T A 17: 35,602,288 (GRCm39) V341D probably benign Het
Igsf21 A G 4: 139,755,029 (GRCm39) probably benign Het
Kmt2d T C 15: 98,758,538 (GRCm39) probably benign Het
Kntc1 T G 5: 123,919,721 (GRCm39) V864G probably damaging Het
Lnx1 T C 5: 74,780,816 (GRCm39) E235G possibly damaging Het
Man2b1 G T 8: 85,824,059 (GRCm39) K985N probably benign Het
Map4k1 C A 7: 28,701,044 (GRCm39) P670Q probably damaging Het
Mapk8ip1 C A 2: 92,219,319 (GRCm39) probably null Het
Mettl16 T A 11: 74,683,093 (GRCm39) Y178* probably null Het
Mrpl11 T A 19: 5,013,449 (GRCm39) probably null Het
Nup85 T C 11: 115,460,540 (GRCm39) S140P possibly damaging Het
Or14c44 T C 7: 86,062,167 (GRCm39) L199P possibly damaging Het
Or1j20 T C 2: 36,760,532 (GRCm39) probably benign Het
Or4k51 T A 2: 111,585,350 (GRCm39) V252E probably damaging Het
Or5w16 T C 2: 87,576,942 (GRCm39) V134A probably benign Het
Pcdhb2 T A 18: 37,428,375 (GRCm39) L116* probably null Het
Pdcd7 C A 9: 65,253,985 (GRCm39) R188S probably damaging Het
Pdk2 T C 11: 94,918,111 (GRCm39) Y374C probably damaging Het
Ppp1r12a G T 10: 108,069,882 (GRCm39) D224Y probably damaging Het
Ppp2r2d T A 7: 138,478,364 (GRCm39) Y169N probably damaging Het
Prcp A C 7: 92,559,421 (GRCm39) T162P probably benign Het
Prkd1 A G 12: 50,388,925 (GRCm39) S873P probably benign Het
Rtkn G A 6: 83,123,042 (GRCm39) R68H probably damaging Het
Sall4 C T 2: 168,597,776 (GRCm39) D355N probably damaging Het
Scn7a A G 2: 66,534,196 (GRCm39) V493A probably benign Het
Sema4b G A 7: 79,865,444 (GRCm39) A140T probably damaging Het
Shisa6 C A 11: 66,108,654 (GRCm39) G408C possibly damaging Het
Slc7a9 G T 7: 35,153,589 (GRCm39) V197F probably damaging Het
Spata2 A T 2: 167,326,071 (GRCm39) D249E probably damaging Het
Stk36 T A 1: 74,672,797 (GRCm39) V1013E probably benign Het
Tcp10a T C 17: 7,610,899 (GRCm39) V336A probably damaging Het
Tfb2m A T 1: 179,365,409 (GRCm39) V185D possibly damaging Het
Tgm7 T A 2: 120,937,396 (GRCm39) Y76F probably benign Het
Tph1 T C 7: 46,303,177 (GRCm39) Y267C probably damaging Het
Trgv1 G A 13: 19,520,740 (GRCm39) probably benign Het
Ube2d1 A G 10: 71,091,656 (GRCm39) probably benign Het
Vmn2r12 C A 5: 109,239,716 (GRCm39) R282S probably damaging Het
Vps4a A G 8: 107,763,556 (GRCm39) D72G probably benign Het
Wipf2 T A 11: 98,781,629 (GRCm39) V56D possibly damaging Het
Zfp750 C A 11: 121,402,991 (GRCm39) V586L probably benign Het
Zfp831 A G 2: 174,486,399 (GRCm39) E358G possibly damaging Het
Other mutations in Ptpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Ptpn2 APN 18 67,808,862 (GRCm39) missense possibly damaging 0.69
IGL02999:Ptpn2 APN 18 67,814,580 (GRCm39) missense probably damaging 0.99
R2075:Ptpn2 UTSW 18 67,814,545 (GRCm39) missense probably damaging 0.97
R2273:Ptpn2 UTSW 18 67,810,872 (GRCm39) missense probably damaging 0.99
R2391:Ptpn2 UTSW 18 67,808,959 (GRCm39) splice site probably null
R6909:Ptpn2 UTSW 18 67,809,041 (GRCm39) splice site probably null
R7251:Ptpn2 UTSW 18 67,808,862 (GRCm39) missense possibly damaging 0.69
R7979:Ptpn2 UTSW 18 67,814,641 (GRCm39) missense possibly damaging 0.94
R8418:Ptpn2 UTSW 18 67,814,592 (GRCm39) missense probably damaging 1.00
R8771:Ptpn2 UTSW 18 67,805,659 (GRCm39) missense probably benign 0.00
R9469:Ptpn2 UTSW 18 67,808,907 (GRCm39) missense probably benign 0.02
R9634:Ptpn2 UTSW 18 67,808,789 (GRCm39) critical splice donor site probably null
Posted On 2013-12-03