Incidental Mutation 'IGL02652:Ptpn12'
ID 302203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn12
Ensembl Gene ENSMUSG00000028771
Gene Name protein tyrosine phosphatase, non-receptor type 12
Synonyms PTP-PEST, PTP-P19, P19-PTP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02652
Quality Score
Status
Chromosome 5
Chromosomal Location 21191643-21260909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21207435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 308 (K308E)
Ref Sequence ENSEMBL: ENSMUSP00000030556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813] [ENSMUST00000199774]
AlphaFold P35831
Predicted Effect probably benign
Transcript: ENSMUST00000030556
AA Change: K308E

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: K308E

DomainStartEndE-ValueType
PTPc 27 295 2.14e-126 SMART
Blast:PTPc 338 399 7e-12 BLAST
low complexity region 499 518 N/A INTRINSIC
low complexity region 603 615 N/A INTRINSIC
low complexity region 622 640 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148711
Predicted Effect probably benign
Transcript: ENSMUST00000151813
Predicted Effect probably benign
Transcript: ENSMUST00000199774
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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality, defective embryo turning, improper somitogenesis and vasculogenesis, impaired liver development, truncation of the caudal region and mesenchyme deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Ptpn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ptpn12 APN 5 21,234,848 (GRCm39) missense probably damaging 1.00
IGL00226:Ptpn12 APN 5 21,203,666 (GRCm39) missense probably damaging 1.00
IGL01432:Ptpn12 APN 5 21,203,553 (GRCm39) nonsense probably null
IGL02285:Ptpn12 APN 5 21,260,711 (GRCm39) missense probably benign 0.40
IGL02488:Ptpn12 APN 5 21,227,060 (GRCm39) missense possibly damaging 0.72
IGL02550:Ptpn12 APN 5 21,203,137 (GRCm39) missense probably benign 0.00
IGL02640:Ptpn12 APN 5 21,224,244 (GRCm39) missense probably damaging 1.00
IGL03130:Ptpn12 APN 5 21,207,610 (GRCm39) unclassified probably benign
R0531:Ptpn12 UTSW 5 21,203,481 (GRCm39) missense possibly damaging 0.53
R0948:Ptpn12 UTSW 5 21,203,041 (GRCm39) missense probably benign
R1018:Ptpn12 UTSW 5 21,234,867 (GRCm39) missense possibly damaging 0.94
R1184:Ptpn12 UTSW 5 21,203,354 (GRCm39) missense possibly damaging 0.86
R1699:Ptpn12 UTSW 5 21,203,168 (GRCm39) missense probably benign 0.01
R1938:Ptpn12 UTSW 5 21,198,261 (GRCm39) missense probably damaging 1.00
R1952:Ptpn12 UTSW 5 21,203,308 (GRCm39) missense probably benign 0.34
R2152:Ptpn12 UTSW 5 21,207,466 (GRCm39) missense probably damaging 1.00
R2153:Ptpn12 UTSW 5 21,207,466 (GRCm39) missense probably damaging 1.00
R2154:Ptpn12 UTSW 5 21,207,466 (GRCm39) missense probably damaging 1.00
R2267:Ptpn12 UTSW 5 21,203,409 (GRCm39) missense probably damaging 0.98
R2358:Ptpn12 UTSW 5 21,203,690 (GRCm39) missense probably damaging 1.00
R3551:Ptpn12 UTSW 5 21,194,047 (GRCm39) missense possibly damaging 0.67
R3931:Ptpn12 UTSW 5 21,206,321 (GRCm39) missense probably benign 0.00
R4013:Ptpn12 UTSW 5 21,197,741 (GRCm39) missense probably benign 0.05
R4039:Ptpn12 UTSW 5 21,207,508 (GRCm39) nonsense probably null
R4501:Ptpn12 UTSW 5 21,224,278 (GRCm39) missense probably damaging 1.00
R4748:Ptpn12 UTSW 5 21,210,383 (GRCm39) nonsense probably null
R4754:Ptpn12 UTSW 5 21,203,587 (GRCm39) missense probably benign 0.34
R4963:Ptpn12 UTSW 5 21,220,706 (GRCm39) splice site probably null
R5160:Ptpn12 UTSW 5 21,202,829 (GRCm39) missense probably damaging 1.00
R5581:Ptpn12 UTSW 5 21,220,724 (GRCm39) missense probably damaging 1.00
R5789:Ptpn12 UTSW 5 21,194,013 (GRCm39) missense possibly damaging 0.92
R5836:Ptpn12 UTSW 5 21,214,544 (GRCm39) nonsense probably null
R6383:Ptpn12 UTSW 5 21,192,466 (GRCm39) nonsense probably null
R6883:Ptpn12 UTSW 5 21,260,711 (GRCm39) missense probably benign 0.40
R7544:Ptpn12 UTSW 5 21,214,509 (GRCm39) missense probably damaging 1.00
R7885:Ptpn12 UTSW 5 21,203,523 (GRCm39) missense possibly damaging 0.54
R7915:Ptpn12 UTSW 5 21,214,449 (GRCm39) missense probably damaging 1.00
R7960:Ptpn12 UTSW 5 21,260,687 (GRCm39) missense probably benign 0.01
R7976:Ptpn12 UTSW 5 21,207,631 (GRCm39) nonsense probably null
R8032:Ptpn12 UTSW 5 21,203,041 (GRCm39) missense probably benign
R8224:Ptpn12 UTSW 5 21,203,656 (GRCm39) missense probably damaging 1.00
R8473:Ptpn12 UTSW 5 21,203,357 (GRCm39) missense probably benign 0.00
R8823:Ptpn12 UTSW 5 21,203,621 (GRCm39) missense probably damaging 1.00
R9375:Ptpn12 UTSW 5 21,224,212 (GRCm39) missense probably benign 0.21
R9613:Ptpn12 UTSW 5 21,203,621 (GRCm39) missense probably damaging 1.00
R9707:Ptpn12 UTSW 5 21,207,620 (GRCm39) missense probably damaging 0.99
X0004:Ptpn12 UTSW 5 21,224,294 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16