Incidental Mutation 'R5160:Ptpn12'
ID 396927
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 042742-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5160 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 21191643-21260909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21202829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 650 (I650F)
Ref Sequence ENSEMBL: ENSMUSP00000030556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030556] [ENSMUST00000151813]
AlphaFold P35831
Predicted Effect probably damaging
Transcript: ENSMUST00000030556
AA Change: I650F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: I650F

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph G A 11: 20,662,197 (GRCm39) P681L probably benign Het
Akap9 A G 5: 4,080,007 (GRCm39) R1920G probably damaging Het
Ano9 G A 7: 140,684,278 (GRCm39) R495C probably damaging Het
Apoa5 A G 9: 46,181,794 (GRCm39) Y290C probably damaging Het
Apob T C 12: 8,062,126 (GRCm39) I3536T possibly damaging Het
Arhgap42 T G 9: 8,997,656 (GRCm39) K823T probably damaging Het
Bicc1 T C 10: 70,768,066 (GRCm39) Y850C probably damaging Het
Cdh2 A T 18: 16,762,644 (GRCm39) D433E probably damaging Het
Cfap100 A G 6: 90,390,692 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,208 (GRCm39) N947D unknown Het
Col8a2 A G 4: 126,204,205 (GRCm39) K72E possibly damaging Het
Ddx18 A G 1: 121,493,608 (GRCm39) probably null Het
Dna2 T C 10: 62,782,933 (GRCm39) V21A probably benign Het
Dnaja3 T A 16: 4,502,152 (GRCm39) M52K probably benign Het
Fnip2 G A 3: 79,396,298 (GRCm39) T504I probably damaging Het
Il18 G A 9: 50,489,193 (GRCm39) probably null Het
Ina T A 19: 47,003,519 (GRCm39) I109N probably damaging Het
Katnb1 G T 8: 95,822,098 (GRCm39) V275L probably benign Het
Kdm6b C A 11: 69,291,594 (GRCm39) probably benign Het
Kifc2 T A 15: 76,547,177 (GRCm39) L251Q probably damaging Het
Kmt2d A G 15: 98,738,105 (GRCm39) probably benign Het
Lcor T A 19: 41,544,053 (GRCm39) V82E probably damaging Het
Limk2 A C 11: 3,300,772 (GRCm39) V190G probably damaging Het
Luc7l A G 17: 26,486,271 (GRCm39) D150G probably benign Het
Magi3 T A 3: 103,935,224 (GRCm39) H903L possibly damaging Het
Mdh1b C T 1: 63,764,804 (GRCm39) R33Q probably null Het
Myo9a T C 9: 59,779,085 (GRCm39) F1614L probably benign Het
Ngly1 A G 14: 16,281,751 (GRCm38) T210A probably damaging Het
Oas1h A G 5: 121,009,145 (GRCm39) Y285C probably damaging Het
Or1l4b T A 2: 37,036,815 (GRCm39) M197K probably benign Het
Or2h1 T C 17: 37,404,616 (GRCm39) D50G possibly damaging Het
Or2y12 T C 11: 49,426,516 (GRCm39) L168P probably damaging Het
Or4a79 T C 2: 89,551,763 (GRCm39) R231G probably damaging Het
Or5ac25 C T 16: 59,182,129 (GRCm39) G151R probably damaging Het
Or9s23 C T 1: 92,501,544 (GRCm39) T217I probably benign Het
Osbpl7 T C 11: 96,945,382 (GRCm39) S81P probably damaging Het
Pcdha3 T C 18: 37,079,480 (GRCm39) V74A probably damaging Het
Pi4ka T C 16: 17,140,917 (GRCm39) D68G probably benign Het
Prkcz A T 4: 155,377,689 (GRCm39) V79D probably benign Het
Rb1 A G 14: 73,501,895 (GRCm39) silent Het
Rnaseh2b T G 14: 62,590,980 (GRCm39) Y56* probably null Het
Ryr3 A T 2: 112,477,272 (GRCm39) C4495S probably damaging Het
Tk1 A G 11: 117,715,572 (GRCm39) I45T possibly damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Upp1 T C 11: 9,085,193 (GRCm39) S227P possibly damaging Het
Vmn1r30 T A 6: 58,412,368 (GRCm39) N155Y probably benign Het
Wdr35 C T 12: 9,058,487 (GRCm39) A548V probably damaging Het
Zc3h3 A T 15: 75,681,512 (GRCm39) M523K probably benign Het
Zc3h4 T C 7: 16,168,573 (GRCm39) L894P unknown Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp873 C T 10: 81,896,876 (GRCm39) H536Y possibly damaging Het
Zmym4 A T 4: 126,763,977 (GRCm39) N1354K probably damaging Het
Zscan20 A G 4: 128,486,275 (GRCm39) S142P possibly 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
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
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'- AGGCATTTACACTAGGTGGAG -3'
(R):5'- TGTTGAAAGCTCCCCTCAGC -3'

Sequencing Primer
(F):5'- CGTGTTGATAATCCCAGCACTGAG -3'
(R):5'- GCTCCCCTCAGCTTTACCAAC -3'
Posted On 2016-06-21