Incidental Mutation 'R4431:Ptpn3'
ID 377724
Institutional Source Beutler Lab
Gene Symbol Ptpn3
Ensembl Gene ENSMUSG00000038764
Gene Name protein tyrosine phosphatase, non-receptor type 3
Synonyms 9530011I20Rik, PTP-H1, PTPCL
MMRRC Submission 041146-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.632) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 57190841-57301837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57235355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 335 (S335P)
Ref Sequence ENSEMBL: ENSMUSP00000075063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075637]
AlphaFold A2ALK8
Predicted Effect probably damaging
Transcript: ENSMUST00000075637
AA Change: S335P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: S335P

DomainStartEndE-ValueType
B41 25 222 2.44e-67 SMART
FERM_C 226 316 2.64e-25 SMART
low complexity region 454 470 N/A INTRINSIC
PDZ 519 598 1.65e-15 SMART
PTPc 645 903 5.66e-117 SMART
Meta Mutation Damage Score 0.2167 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
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 known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Abca2 A G 2: 25,332,864 (GRCm39) D1521G probably benign Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Ptpn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Ptpn3 APN 4 57,270,050 (GRCm39) missense possibly damaging 0.95
IGL01090:Ptpn3 APN 4 57,240,833 (GRCm39) missense probably damaging 1.00
IGL01399:Ptpn3 APN 4 57,225,775 (GRCm39) missense probably benign 0.01
IGL01413:Ptpn3 APN 4 57,270,156 (GRCm39) missense probably damaging 0.96
IGL01418:Ptpn3 APN 4 57,270,156 (GRCm39) missense probably damaging 0.96
IGL01806:Ptpn3 APN 4 57,254,915 (GRCm39) critical splice donor site probably null
IGL01933:Ptpn3 APN 4 57,197,576 (GRCm39) missense probably benign 0.00
IGL02087:Ptpn3 APN 4 57,222,019 (GRCm39) missense probably damaging 1.00
IGL02269:Ptpn3 APN 4 57,197,510 (GRCm39) missense possibly damaging 0.72
IGL02413:Ptpn3 APN 4 57,205,020 (GRCm39) missense probably damaging 1.00
IGL03163:Ptpn3 APN 4 57,222,020 (GRCm39) missense probably damaging 1.00
R0179:Ptpn3 UTSW 4 57,270,118 (GRCm39) missense probably benign 0.00
R0240:Ptpn3 UTSW 4 57,232,374 (GRCm39) missense probably benign
R0240:Ptpn3 UTSW 4 57,232,374 (GRCm39) missense probably benign
R0310:Ptpn3 UTSW 4 57,204,958 (GRCm39) missense probably benign 0.00
R0492:Ptpn3 UTSW 4 57,194,304 (GRCm39) missense probably benign
R0631:Ptpn3 UTSW 4 57,204,921 (GRCm39) missense probably damaging 0.99
R0656:Ptpn3 UTSW 4 57,270,075 (GRCm39) missense probably benign 0.41
R1443:Ptpn3 UTSW 4 57,225,775 (GRCm39) missense probably benign 0.01
R1741:Ptpn3 UTSW 4 57,254,922 (GRCm39) missense probably damaging 1.00
R1856:Ptpn3 UTSW 4 57,239,682 (GRCm39) missense probably damaging 1.00
R3753:Ptpn3 UTSW 4 57,270,144 (GRCm39) missense probably damaging 1.00
R4704:Ptpn3 UTSW 4 57,270,119 (GRCm39) missense possibly damaging 0.79
R4935:Ptpn3 UTSW 4 57,197,568 (GRCm39) missense probably damaging 1.00
R5119:Ptpn3 UTSW 4 57,218,513 (GRCm39) missense possibly damaging 0.93
R5410:Ptpn3 UTSW 4 57,205,019 (GRCm39) missense probably damaging 1.00
R5554:Ptpn3 UTSW 4 57,240,843 (GRCm39) missense probably damaging 0.99
R6024:Ptpn3 UTSW 4 57,248,653 (GRCm39) splice site probably null
R6061:Ptpn3 UTSW 4 57,248,681 (GRCm39) missense probably damaging 1.00
R6212:Ptpn3 UTSW 4 57,270,070 (GRCm39) missense probably damaging 1.00
R6213:Ptpn3 UTSW 4 57,265,012 (GRCm39) missense probably damaging 1.00
R6239:Ptpn3 UTSW 4 57,249,981 (GRCm39) missense probably benign
R6444:Ptpn3 UTSW 4 57,195,730 (GRCm39) missense possibly damaging 0.51
R6606:Ptpn3 UTSW 4 57,265,104 (GRCm39) splice site probably null
R6656:Ptpn3 UTSW 4 57,205,905 (GRCm39) missense probably damaging 0.99
R6730:Ptpn3 UTSW 4 57,270,088 (GRCm39) missense probably benign
R7133:Ptpn3 UTSW 4 57,225,863 (GRCm39) missense probably benign 0.30
R7231:Ptpn3 UTSW 4 57,245,062 (GRCm39) missense probably damaging 1.00
R7237:Ptpn3 UTSW 4 57,239,625 (GRCm39) missense probably damaging 1.00
R7368:Ptpn3 UTSW 4 57,221,993 (GRCm39) missense probably damaging 1.00
R7604:Ptpn3 UTSW 4 57,240,845 (GRCm39) missense probably damaging 0.99
R7742:Ptpn3 UTSW 4 57,265,092 (GRCm39) critical splice acceptor site probably null
R8023:Ptpn3 UTSW 4 57,248,688 (GRCm39) missense probably benign 0.02
R8099:Ptpn3 UTSW 4 57,204,985 (GRCm39) nonsense probably null
R8155:Ptpn3 UTSW 4 57,232,336 (GRCm39) missense probably benign
R8302:Ptpn3 UTSW 4 57,218,514 (GRCm39) missense probably benign 0.01
R8315:Ptpn3 UTSW 4 57,270,063 (GRCm39) missense possibly damaging 0.88
R8335:Ptpn3 UTSW 4 57,235,286 (GRCm39) missense probably damaging 0.99
R8346:Ptpn3 UTSW 4 57,225,547 (GRCm39) missense probably damaging 0.99
R8348:Ptpn3 UTSW 4 57,240,784 (GRCm39) critical splice donor site probably null
R8448:Ptpn3 UTSW 4 57,240,784 (GRCm39) critical splice donor site probably null
R8513:Ptpn3 UTSW 4 57,270,085 (GRCm39) nonsense probably null
R8846:Ptpn3 UTSW 4 57,205,020 (GRCm39) missense probably damaging 1.00
R9244:Ptpn3 UTSW 4 57,254,915 (GRCm39) critical splice donor site probably null
R9337:Ptpn3 UTSW 4 57,218,521 (GRCm39) missense probably damaging 0.96
R9478:Ptpn3 UTSW 4 57,197,573 (GRCm39) missense probably damaging 1.00
R9500:Ptpn3 UTSW 4 57,205,914 (GRCm39) missense possibly damaging 0.83
R9710:Ptpn3 UTSW 4 57,249,957 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTCTACGCCATCTCTGCTGAAG -3'
(R):5'- AAGGACACTCTGCAAGCTGG -3'

Sequencing Primer
(F):5'- CCATCTCTGCTGAAGAATTTAAAGGC -3'
(R):5'- AAGCTGGCTCCACTGGTCATAG -3'
Posted On 2016-03-24