Incidental Mutation 'IGL00226:Ptpn12'
ID2421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn12
Ensembl Gene ENSMUSG00000028771
Gene Nameprotein tyrosine phosphatase, non-receptor type 12
SynonymsP19-PTP, PTP-PEST, PTP-P19
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00226
Quality Score
Status
Chromosome5
Chromosomal Location20986645-21055911 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 20998668 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 371 (S371A)
Ref Sequence ENSEMBL: ENSMUSP00000030556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813]
Predicted Effect probably damaging
Transcript: ENSMUST00000030556
AA Change: S371A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: S371A

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik C A 3: 36,479,541 probably benign Het
5430419D17Rik T A 7: 131,238,094 probably null Het
Ankib1 G A 5: 3,727,573 S439L probably benign Het
Cpd G T 11: 76,797,789 H886N probably benign Het
Dhrs7 A G 12: 72,659,350 C94R probably damaging Het
Dmxl2 T A 9: 54,415,993 H1369L probably damaging Het
Dnah5 A G 15: 28,272,342 N1068S probably benign Het
Dopey1 T A 9: 86,551,679 D2329E possibly damaging Het
Eif1ad A G 19: 5,368,184 probably benign Het
Fam149a T C 8: 45,339,343 R693G probably damaging Het
Fbxw18 T A 9: 109,693,343 T153S probably benign Het
Glg1 A T 8: 111,159,849 C1104S probably damaging Het
Jak3 T C 8: 71,681,697 probably benign Het
Kctd6 C T 14: 8,222,856 R233C possibly damaging Het
Kpna3 A G 14: 61,374,288 V300A possibly damaging Het
Msh5 A T 17: 35,029,881 Y725* probably null Het
Myh2 T C 11: 67,185,233 S749P possibly damaging Het
Olfr1215 A G 2: 89,001,339 probably benign Het
Olfr199 A T 16: 59,216,496 M39K probably damaging Het
Olfr27 T A 9: 39,144,757 I219N possibly damaging Het
Olfr697 T A 7: 106,741,701 T78S probably benign Het
Pdcd1 A G 1: 94,040,135 probably benign Het
Pde5a T A 3: 122,794,357 F391I probably damaging Het
Sec16b A G 1: 157,538,330 Y254C probably damaging Het
Slc2a10 G A 2: 165,514,780 C120Y probably damaging Het
Spink5 G A 18: 43,987,871 probably benign Het
Svil A G 18: 5,099,045 Q1250R probably benign Het
Tph1 G T 7: 46,656,870 N222K probably benign Het
Vmn2r83 A T 10: 79,478,971 D351V probably damaging Het
Zfp54 A G 17: 21,433,559 D105G possibly damaging Het
Zfp623 T C 15: 75,948,203 I336T probably damaging Het
Other mutations in Ptpn12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ptpn12 APN 5 21029850 missense probably damaging 1.00
IGL01432:Ptpn12 APN 5 20998555 nonsense probably null
IGL02285:Ptpn12 APN 5 21055713 missense probably benign 0.40
IGL02488:Ptpn12 APN 5 21022062 missense possibly damaging 0.72
IGL02550:Ptpn12 APN 5 20998139 missense probably benign 0.00
IGL02640:Ptpn12 APN 5 21019246 missense probably damaging 1.00
IGL02652:Ptpn12 APN 5 21002437 missense probably benign 0.04
IGL03130:Ptpn12 APN 5 21002612 unclassified probably benign
R0531:Ptpn12 UTSW 5 20998483 missense possibly damaging 0.53
R0948:Ptpn12 UTSW 5 20998043 missense probably benign
R1018:Ptpn12 UTSW 5 21029869 missense possibly damaging 0.94
R1184:Ptpn12 UTSW 5 20998356 missense possibly damaging 0.86
R1699:Ptpn12 UTSW 5 20998170 missense probably benign 0.01
R1938:Ptpn12 UTSW 5 20993263 missense probably damaging 1.00
R1952:Ptpn12 UTSW 5 20998310 missense probably benign 0.34
R2152:Ptpn12 UTSW 5 21002468 missense probably damaging 1.00
R2153:Ptpn12 UTSW 5 21002468 missense probably damaging 1.00
R2154:Ptpn12 UTSW 5 21002468 missense probably damaging 1.00
R2267:Ptpn12 UTSW 5 20998411 missense probably damaging 0.98
R2358:Ptpn12 UTSW 5 20998692 missense probably damaging 1.00
R3551:Ptpn12 UTSW 5 20989049 missense possibly damaging 0.67
R3931:Ptpn12 UTSW 5 21001323 missense probably benign 0.00
R4013:Ptpn12 UTSW 5 20992743 missense probably benign 0.05
R4039:Ptpn12 UTSW 5 21002510 nonsense probably null
R4501:Ptpn12 UTSW 5 21019280 missense probably damaging 1.00
R4748:Ptpn12 UTSW 5 21005385 nonsense probably null
R4754:Ptpn12 UTSW 5 20998589 missense probably benign 0.34
R4963:Ptpn12 UTSW 5 21015708 splice site probably null
R5160:Ptpn12 UTSW 5 20997831 missense probably damaging 1.00
R5581:Ptpn12 UTSW 5 21015726 missense probably damaging 1.00
R5789:Ptpn12 UTSW 5 20989015 missense possibly damaging 0.92
R5836:Ptpn12 UTSW 5 21009546 nonsense probably null
R6383:Ptpn12 UTSW 5 20987468 nonsense probably null
R6883:Ptpn12 UTSW 5 21055713 missense probably benign 0.40
R7544:Ptpn12 UTSW 5 21009511 missense probably damaging 1.00
R7885:Ptpn12 UTSW 5 20998525 missense possibly damaging 0.54
R7968:Ptpn12 UTSW 5 20998525 missense possibly damaging 0.54
R8032:Ptpn12 UTSW 5 20998043 missense probably benign
X0004:Ptpn12 UTSW 5 21019296 missense probably damaging 1.00
Posted On2011-12-09