Incidental Mutation 'IGL01806:Ptpn3'
ID155692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn3
Ensembl Gene ENSMUSG00000038764
Gene Nameprotein tyrosine phosphatase, non-receptor type 3
Synonyms9530011I20Rik, PTPCL, PTP-H1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.200) question?
Stock #IGL01806
Quality Score
Status
Chromosome4
Chromosomal Location57190841-57301837 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 57254915 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075637] [ENSMUST00000153926]
Predicted Effect probably null
Transcript: ENSMUST00000075637
SMART Domains Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764

DomainStartEndE-ValueType
B41 25 222 2.44e-67 SMART
FERM_C 226 316 2.64e-25 SMART
low complexity region 454 470 N/A INTRINSIC
PDZ 519 598 1.65e-15 SMART
PTPc 645 903 5.66e-117 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150445
Predicted Effect probably null
Transcript: ENSMUST00000153926
SMART Domains Protein: ENSMUSP00000122490
Gene: ENSMUSG00000038764

DomainStartEndE-ValueType
B41 25 222 2.44e-67 SMART
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. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg1 T C 8: 95,012,931 S670P probably damaging Het
Ap5m1 T A 14: 49,080,340 F351L probably damaging Het
Cacnb2 A G 2: 14,614,268 Y38C probably damaging Het
Ccdc28a C T 10: 18,219,514 A151T possibly damaging Het
Cgnl1 T C 9: 71,650,322 E976G probably damaging Het
Cyp2c39 A G 19: 39,536,820 Y189C probably damaging Het
Dbt T C 3: 116,533,305 V101A probably damaging Het
Evc A G 5: 37,320,234 probably null Het
Fastkd5 A G 2: 130,615,612 Y353H probably benign Het
Gm6408 G A 5: 146,482,082 R30H probably damaging Het
Lhx8 A G 3: 154,322,355 S156P probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mtrr A T 13: 68,580,600 V27E possibly damaging Het
Myh14 A G 7: 44,657,939 V226A probably benign Het
Nek1 T C 8: 61,124,212 S1076P possibly damaging Het
Olfr522 G T 7: 140,162,928 N7K probably benign Het
Olfr619 C T 7: 103,604,341 A229V probably benign Het
Pcdhb7 A G 18: 37,342,495 D228G possibly damaging Het
Pias3 T C 3: 96,703,757 S414P probably benign Het
Plcd4 G A 1: 74,552,033 V196I probably benign Het
Proca1 A G 11: 78,204,911 D123G probably damaging Het
Ptprq C A 10: 107,699,608 R432L probably damaging Het
Rasgrp4 A G 7: 29,139,050 K108E possibly damaging Het
Siglecg A G 7: 43,411,464 probably null Het
Srpr A G 9: 35,214,905 T465A possibly damaging Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Zeb1 G A 18: 5,767,867 V793M possibly damaging Het
Other mutations in Ptpn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Ptpn3 APN 4 57270050 missense possibly damaging 0.95
IGL01090:Ptpn3 APN 4 57240833 missense probably damaging 1.00
IGL01399:Ptpn3 APN 4 57225775 missense probably benign 0.01
IGL01413:Ptpn3 APN 4 57270156 missense probably damaging 0.96
IGL01418:Ptpn3 APN 4 57270156 missense probably damaging 0.96
IGL01933:Ptpn3 APN 4 57197576 missense probably benign 0.00
IGL02087:Ptpn3 APN 4 57222019 missense probably damaging 1.00
IGL02269:Ptpn3 APN 4 57197510 missense possibly damaging 0.72
IGL02413:Ptpn3 APN 4 57205020 missense probably damaging 1.00
IGL03163:Ptpn3 APN 4 57222020 missense probably damaging 1.00
R0179:Ptpn3 UTSW 4 57270118 missense probably benign 0.00
R0240:Ptpn3 UTSW 4 57232374 missense probably benign
R0240:Ptpn3 UTSW 4 57232374 missense probably benign
R0310:Ptpn3 UTSW 4 57204958 missense probably benign 0.00
R0492:Ptpn3 UTSW 4 57194304 missense probably benign
R0631:Ptpn3 UTSW 4 57204921 missense probably damaging 0.99
R0656:Ptpn3 UTSW 4 57270075 missense probably benign 0.41
R1443:Ptpn3 UTSW 4 57225775 missense probably benign 0.01
R1741:Ptpn3 UTSW 4 57254922 missense probably damaging 1.00
R1856:Ptpn3 UTSW 4 57239682 missense probably damaging 1.00
R3753:Ptpn3 UTSW 4 57270144 missense probably damaging 1.00
R4431:Ptpn3 UTSW 4 57235355 missense probably damaging 0.97
R4704:Ptpn3 UTSW 4 57270119 missense possibly damaging 0.79
R4935:Ptpn3 UTSW 4 57197568 missense probably damaging 1.00
R5119:Ptpn3 UTSW 4 57218513 missense possibly damaging 0.93
R5410:Ptpn3 UTSW 4 57205019 missense probably damaging 1.00
R5554:Ptpn3 UTSW 4 57240843 missense probably damaging 0.99
R6024:Ptpn3 UTSW 4 57248653 splice site probably null
R6061:Ptpn3 UTSW 4 57248681 missense probably damaging 1.00
R6212:Ptpn3 UTSW 4 57270070 missense probably damaging 1.00
R6213:Ptpn3 UTSW 4 57265012 missense probably damaging 1.00
R6239:Ptpn3 UTSW 4 57249981 missense probably benign
R6444:Ptpn3 UTSW 4 57195730 missense possibly damaging 0.51
R6606:Ptpn3 UTSW 4 57265104 splice site probably null
R6656:Ptpn3 UTSW 4 57205905 missense probably damaging 0.99
R6730:Ptpn3 UTSW 4 57270088 missense probably benign
Posted On2014-02-04