Incidental Mutation 'R8003:Ptpre'
ID 616458
Institutional Source Beutler Lab
Gene Symbol Ptpre
Ensembl Gene ENSMUSG00000041836
Gene Name protein tyrosine phosphatase receptor type E
Synonyms RPTPepsilon, PTPepsilon, PTPe
MMRRC Submission 046043-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # R8003 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 135139210-135288022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 135270765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 314 (Q314K)
Ref Sequence ENSEMBL: ENSMUSP00000147656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073961] [ENSMUST00000209256] [ENSMUST00000209979] [ENSMUST00000210833] [ENSMUST00000211140] [ENSMUST00000211788]
AlphaFold P49446
Predicted Effect possibly damaging
Transcript: ENSMUST00000073961
AA Change: Q294K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: Q294K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 25 36 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
PTPc 133 395 4.65e-136 SMART
PTPc 424 690 7.36e-116 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209256
AA Change: Q314K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209979
AA Change: Q237K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210833
AA Change: Q294K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211140
AA Change: Q294K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000211788
AA Change: Q307K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.4888 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset peripheral myelination defects, increased activity of voltage-gated potassium channels in Schwann cells, and increased trabecular bone mass due to cell-specific defects in osteoclast function in young females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A G 14: 56,019,092 (GRCm39) V155A probably benign Het
Arfgef2 A G 2: 166,695,208 (GRCm39) Y527C probably damaging Het
Brca1 C T 11: 101,415,303 (GRCm39) G944R probably benign Het
C2cd2 A G 16: 97,687,286 (GRCm39) probably null Het
Cass4 T C 2: 172,269,879 (GRCm39) F654L unknown Het
Ccdc178 A T 18: 21,977,944 (GRCm39) probably null Het
Cct4 T C 11: 22,946,040 (GRCm39) probably null Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Col5a1 G A 2: 27,848,340 (GRCm39) probably benign Het
Col6a3 G T 1: 90,703,455 (GRCm39) N3037K unknown Het
Csmd2 T A 4: 128,432,980 (GRCm39) C3012* probably null Het
Dclk2 T C 3: 86,700,608 (GRCm39) probably null Het
Dhx38 A T 8: 110,282,772 (GRCm39) D631E probably damaging Het
Eif2ak2 C A 17: 79,183,652 (GRCm39) A66S probably damaging Het
Ephx2 A G 14: 66,361,782 (GRCm39) probably null Het
Fbxw10 T G 11: 62,748,587 (GRCm39) C405G possibly damaging Het
Galnt13 G T 2: 54,950,497 (GRCm39) G393* probably null Het
Gm5591 G T 7: 38,219,183 (GRCm39) H563Q probably damaging Het
Gtf3c5 A G 2: 28,459,373 (GRCm39) I394T probably benign Het
Hectd4 G A 5: 121,477,581 (GRCm39) A2835T possibly damaging Het
Herc2 A G 7: 55,818,652 (GRCm39) D2781G possibly damaging Het
Kmt2b G T 7: 30,268,802 (GRCm39) H2642Q probably damaging Het
Lars1 A T 18: 42,354,684 (GRCm39) D754E probably damaging Het
Lrpprc A C 17: 85,059,745 (GRCm39) S690A probably benign Het
Map3k6 A G 4: 132,976,193 (GRCm39) T805A probably benign Het
Mthfd1l T G 10: 3,934,147 (GRCm39) S160A probably benign Het
Mtmr6 G A 14: 60,519,544 (GRCm39) probably null Het
Mybpc2 A T 7: 44,158,488 (GRCm39) M698K probably damaging Het
Myh8 T A 11: 67,190,586 (GRCm39) L1304M probably damaging Het
Mylip T A 13: 45,557,947 (GRCm39) V117E probably benign Het
Npc1l1 T C 11: 6,165,129 (GRCm39) Q1061R probably benign Het
Or12e13 A G 2: 87,664,081 (GRCm39) R233G probably benign Het
Or5d37 A T 2: 87,923,589 (GRCm39) Y230* probably null Het
Pkd2l2 G A 18: 34,561,232 (GRCm39) M413I probably damaging Het
Plch2 C T 4: 155,138,980 (GRCm39) G19D unknown Het
Pramel17 T C 4: 101,693,130 (GRCm39) K290R probably benign Het
Psg22 A C 7: 18,458,350 (GRCm39) Y347S probably damaging Het
Rgs6 T C 12: 83,032,144 (GRCm39) S54P probably damaging Het
Sbds C A 5: 130,279,726 (GRCm39) V130F possibly damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc24a2 A T 4: 87,094,552 (GRCm39) D322E probably benign Het
Slc45a4 G T 15: 73,457,162 (GRCm39) Y585* probably null Het
Slc7a4 A C 16: 17,392,315 (GRCm39) V373G possibly damaging Het
Sulf1 G A 1: 12,908,825 (GRCm39) V613M probably damaging Het
Syt1 T C 10: 108,472,434 (GRCm39) D150G probably damaging Het
Tnpo3 C A 6: 29,551,900 (GRCm39) V888F probably benign Het
Trim9 T C 12: 70,393,608 (GRCm39) H112R probably benign Het
Vmn2r80 T C 10: 78,984,711 (GRCm39) I21T probably benign Het
Wdr41 C A 13: 95,149,654 (GRCm39) A286E possibly damaging Het
Wnt8b T A 19: 44,500,396 (GRCm39) C328S probably damaging Het
Ybx3 A T 6: 131,345,400 (GRCm39) Y324* probably null Het
Zmynd15 T A 11: 70,351,767 (GRCm39) H124Q probably benign Het
Other mutations in Ptpre
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Ptpre APN 7 135,260,782 (GRCm39) missense probably damaging 0.98
IGL01019:Ptpre APN 7 135,280,054 (GRCm39) nonsense probably null
IGL01115:Ptpre APN 7 135,272,493 (GRCm39) missense probably damaging 1.00
IGL01456:Ptpre APN 7 135,271,531 (GRCm39) missense probably damaging 1.00
IGL01516:Ptpre APN 7 135,266,728 (GRCm39) missense probably damaging 0.97
IGL02108:Ptpre APN 7 135,260,831 (GRCm39) missense possibly damaging 0.85
IGL02735:Ptpre APN 7 135,269,296 (GRCm39) missense probably damaging 1.00
IGL03326:Ptpre APN 7 135,274,546 (GRCm39) missense probably damaging 1.00
IGL03327:Ptpre APN 7 135,274,551 (GRCm39) critical splice donor site probably null
R0183:Ptpre UTSW 7 135,271,574 (GRCm39) missense probably benign 0.01
R0369:Ptpre UTSW 7 135,272,444 (GRCm39) missense probably damaging 1.00
R0538:Ptpre UTSW 7 135,265,044 (GRCm39) missense probably damaging 0.99
R0762:Ptpre UTSW 7 135,280,964 (GRCm39) missense probably damaging 0.99
R1169:Ptpre UTSW 7 135,269,341 (GRCm39) missense probably benign 0.33
R1214:Ptpre UTSW 7 135,280,987 (GRCm39) missense probably damaging 1.00
R1629:Ptpre UTSW 7 135,271,528 (GRCm39) missense probably damaging 1.00
R1654:Ptpre UTSW 7 135,255,657 (GRCm39) missense probably benign 0.32
R1819:Ptpre UTSW 7 135,270,722 (GRCm39) splice site probably benign
R1876:Ptpre UTSW 7 135,280,046 (GRCm39) missense possibly damaging 0.73
R2049:Ptpre UTSW 7 135,272,424 (GRCm39) splice site probably benign
R2284:Ptpre UTSW 7 135,271,510 (GRCm39) missense probably benign 0.05
R2895:Ptpre UTSW 7 135,245,587 (GRCm39) nonsense probably null
R4508:Ptpre UTSW 7 135,270,832 (GRCm39) missense probably damaging 1.00
R4603:Ptpre UTSW 7 135,269,372 (GRCm39) nonsense probably null
R4644:Ptpre UTSW 7 135,253,661 (GRCm39) intron probably benign
R4863:Ptpre UTSW 7 135,270,861 (GRCm39) missense probably benign 0.00
R4989:Ptpre UTSW 7 135,270,861 (GRCm39) missense probably benign 0.00
R5015:Ptpre UTSW 7 135,270,861 (GRCm39) missense probably benign 0.00
R5133:Ptpre UTSW 7 135,270,861 (GRCm39) missense probably benign 0.00
R5134:Ptpre UTSW 7 135,253,821 (GRCm39) missense probably damaging 0.96
R5291:Ptpre UTSW 7 135,280,030 (GRCm39) missense probably benign
R5372:Ptpre UTSW 7 135,255,669 (GRCm39) missense possibly damaging 0.87
R5653:Ptpre UTSW 7 135,255,672 (GRCm39) missense probably damaging 0.99
R5896:Ptpre UTSW 7 135,276,007 (GRCm39) missense probably benign 0.39
R6238:Ptpre UTSW 7 135,272,909 (GRCm39) missense probably damaging 1.00
R6974:Ptpre UTSW 7 135,270,877 (GRCm39) missense possibly damaging 0.95
R7125:Ptpre UTSW 7 135,255,744 (GRCm39) nonsense probably null
R7298:Ptpre UTSW 7 135,285,016 (GRCm39) missense probably damaging 1.00
R7453:Ptpre UTSW 7 135,139,803 (GRCm39) missense unknown
R7459:Ptpre UTSW 7 135,269,329 (GRCm39) missense probably benign
R7855:Ptpre UTSW 7 135,253,724 (GRCm39) missense probably benign
R7970:Ptpre UTSW 7 135,280,048 (GRCm39) missense possibly damaging 0.51
R8768:Ptpre UTSW 7 135,283,306 (GRCm39) missense possibly damaging 0.92
R9109:Ptpre UTSW 7 135,271,508 (GRCm39) missense probably benign
R9131:Ptpre UTSW 7 135,280,875 (GRCm39) missense probably damaging 1.00
R9267:Ptpre UTSW 7 135,274,549 (GRCm39) missense probably damaging 1.00
R9541:Ptpre UTSW 7 135,266,740 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- ATGGTACCCCTGCATTCCAG -3'
(R):5'- CTTTGGGTATAGCTGCTTCAAAAC -3'

Sequencing Primer
(F):5'- TGCATTCCAGGGTTCTCTG -3'
(R):5'- GGTATAGCTGCTTCAAAACTTCATTC -3'
Posted On 2020-01-23