Incidental Mutation 'R2391:Ptpn2'
ID 247779
Institutional Source Beutler Lab
Gene Symbol Ptpn2
Ensembl Gene ENSMUSG00000024539
Gene Name protein tyrosine phosphatase, non-receptor type 2
Synonyms Ptpt, TC-PTP
MMRRC Submission 040359-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2391 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 67798581-67857665 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 67808959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025420] [ENSMUST00000120934] [ENSMUST00000122412]
AlphaFold Q06180
Predicted Effect probably null
Transcript: ENSMUST00000025420
SMART Domains Protein: ENSMUSP00000025420
Gene: ENSMUSG00000024539

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 287 376 7e-38 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120934
SMART Domains Protein: ENSMUSP00000113182
Gene: ENSMUSG00000024539

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 284 357 2e-27 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000122412
SMART Domains Protein: ENSMUSP00000112675
Gene: ENSMUSG00000024539

DomainStartEndE-ValueType
PTPc 17 277 2.56e-115 SMART
Blast:PTPc 287 399 9e-56 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128169
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (36/36)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T A 7: 115,703,461 (GRCm39) D24E probably damaging Het
Abca4 A G 3: 121,952,071 (GRCm39) H689R probably benign Het
Acss3 T G 10: 106,959,348 (GRCm39) T33P probably benign Het
BC005537 T A 13: 24,993,898 (GRCm39) Y124* probably null Het
Capn2 T C 1: 182,306,174 (GRCm39) D524G probably benign Het
Catsperb A G 12: 101,590,965 (GRCm39) Y1011C probably damaging Het
Cdk18 G T 1: 132,043,212 (GRCm39) Q438K probably benign Het
Cimap1d A T 10: 79,481,484 (GRCm39) V15E probably benign Het
Ckap5 A G 2: 91,416,214 (GRCm39) M1047V possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 T A 7: 130,708,198 (GRCm39) I1306N probably damaging Het
Emp2 A T 16: 10,102,452 (GRCm39) I120N probably damaging Het
Gm2888 A T 14: 3,037,656 (GRCm38) D216V possibly damaging Het
Naa16 T A 14: 79,607,489 (GRCm39) H287L probably benign Het
Olfm5 A G 7: 103,810,041 (GRCm39) S107P probably benign Het
Or10q3 G T 19: 11,848,180 (GRCm39) Y133* probably null Het
Or51e2 C A 7: 102,391,581 (GRCm39) V210F possibly damaging Het
Or6k8-ps1 T C 1: 173,979,664 (GRCm39) V194A probably benign Het
Serpinb8 A G 1: 107,534,799 (GRCm39) D290G probably damaging Het
Sfmbt2 T C 2: 10,450,504 (GRCm39) Y260H possibly damaging Het
Slc6a20a A T 9: 123,493,686 (GRCm39) V65E probably damaging Het
Spon1 C T 7: 113,486,080 (GRCm39) T210M probably damaging Het
Sugp1 T C 8: 70,512,061 (GRCm39) probably null Het
Tas2r143 C A 6: 42,377,810 (GRCm39) H213Q probably damaging Het
Terf1 C A 1: 15,875,963 (GRCm39) S21* probably null Het
Trim12a T C 7: 103,956,138 (GRCm39) E134G probably damaging Het
Trip12 TATACATACATACATACATACATACATACATAC TATACATACATACATACATACATACATACATACATAC 1: 84,792,511 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,751 (GRCm39) Y45C probably benign Het
Usp29 T A 7: 6,966,770 (GRCm39) probably null Het
Wdfy4 A T 14: 32,884,764 (GRCm39) M46K possibly damaging Het
Wdr90 G A 17: 26,070,429 (GRCm39) P1104L probably damaging Het
Znhit6 T C 3: 145,300,413 (GRCm39) S230P probably damaging Het
Other mutations in Ptpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Ptpn2 APN 18 67,808,862 (GRCm39) missense possibly damaging 0.69
IGL01538:Ptpn2 APN 18 67,814,623 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGCACATACCTCTCACTGC -3'
(R):5'- AATAACAGTATATCCTTCCCTGCATCG -3'

Sequencing Primer
(F):5'- GCTCTCCTCCACAGTATCCTG -3'
(R):5'- CCATCCGTAATGAGATCTGATGGC -3'
Posted On 2014-11-11