Incidental Mutation 'R4501:Ptpn12'
ID 331804
Institutional Source Beutler Lab
Gene Symbol Ptpn12
Ensembl Gene ENSMUSG00000028771
Gene Name protein tyrosine phosphatase, non-receptor type 12
Synonyms PTP-PEST, PTP-P19, P19-PTP
MMRRC Submission 041753-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4501 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 21191643-21260909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21224278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 105 (A105E)
Ref Sequence ENSEMBL: ENSMUSP00000030556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813] [ENSMUST00000199774]
AlphaFold P35831
Predicted Effect probably damaging
Transcript: ENSMUST00000030556
AA Change: A105E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: A105E

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 probably benign
Transcript: ENSMUST00000140057
Predicted Effect probably benign
Transcript: ENSMUST00000151813
Predicted Effect probably benign
Transcript: ENSMUST00000199774
Meta Mutation Damage Score 0.9685 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (37/37)
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
Acin1 A G 14: 54,924,044 (GRCm39) V65A probably damaging Het
Ankrd28 A G 14: 31,428,753 (GRCm39) L956S probably damaging Het
Atp2a1 G A 7: 126,052,555 (GRCm39) T388I probably benign Het
AU018091 A G 7: 3,208,919 (GRCm39) V389A probably benign Het
Cdh2 A G 18: 16,762,642 (GRCm39) V434A possibly damaging Het
Dennd4a G A 9: 64,817,405 (GRCm39) D1680N possibly damaging Het
Dnah2 T A 11: 69,368,485 (GRCm39) M1717L probably benign Het
Dusp6 T A 10: 99,100,457 (GRCm39) L151Q probably benign Het
Hc A T 2: 34,887,488 (GRCm39) probably null Het
Hmcn1 A T 1: 150,509,417 (GRCm39) S3644T probably damaging Het
Kcnt2 T C 1: 140,480,718 (GRCm39) I761T probably damaging Het
Mmd2 A G 5: 142,560,965 (GRCm39) V90A probably benign Het
Ncf2 C G 1: 152,710,784 (GRCm39) Q432E probably benign Het
Nxn T C 11: 76,165,438 (GRCm39) E172G probably damaging Het
P2ry12 A G 3: 59,125,078 (GRCm39) I199T probably damaging Het
Phldb3 A G 7: 24,311,986 (GRCm39) E100G probably benign Het
Pidd1 A G 7: 141,021,356 (GRCm39) probably benign Het
Pldi G T 10: 60,764,188 (GRCm39) noncoding transcript Het
Plk5 T C 10: 80,195,305 (GRCm39) C208R probably benign Het
Pusl1 T C 4: 155,973,999 (GRCm39) T252A probably benign Het
Rpl13a T C 7: 44,775,564 (GRCm39) H95R probably benign Het
Sh3d21 GAATCTCCTGGGAAAATC GAATC 4: 126,056,652 (GRCm39) probably null Het
Slc30a4 A G 2: 122,527,136 (GRCm39) I370T probably benign Het
Taf1c A G 8: 120,326,168 (GRCm39) F565L probably damaging Het
Tdrd9 A G 12: 112,009,243 (GRCm39) K1050E probably benign Het
Tnrc6c T A 11: 117,613,324 (GRCm39) L494Q probably damaging Het
Ttn T A 2: 76,624,991 (GRCm39) I13450L possibly damaging Het
Usp34 C A 11: 23,351,529 (GRCm39) P1439Q probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn1r80 A G 7: 11,927,318 (GRCm39) N143D probably benign Het
Zbtb44 G A 9: 30,965,462 (GRCm39) V291I probably damaging 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
IGL02652:Ptpn12 APN 5 21,207,435 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- ACACAAAGGTTACCCAGAAGATTCTTA -3'
(R):5'- GCAAAAGCTGAAATGAATTGGATATA -3'

Sequencing Primer
(F):5'- TTACCCAGAAGATTCTTAGGGGC -3'
(R):5'- TGACTCTTGATGAAAACATTAC -3'
Posted On 2015-07-21