Incidental Mutation 'IGL02735:Ptpre'
ID 305628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpre
Ensembl Gene ENSMUSG00000041836
Gene Name protein tyrosine phosphatase receptor type E
Synonyms RPTPepsilon, PTPepsilon, PTPe
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # IGL02735
Quality Score
Status
Chromosome 7
Chromosomal Location 135139210-135288022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135269296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 246 (Y246F)
Ref Sequence ENSEMBL: ENSMUSP00000147957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073961] [ENSMUST00000209256] [ENSMUST00000209979] [ENSMUST00000210833] [ENSMUST00000211140] [ENSMUST00000211788]
AlphaFold P49446
Predicted Effect probably damaging
Transcript: ENSMUST00000073961
AA Change: Y246F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: Y246F

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: Y266F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000209979
AA Change: Y189F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000210833
AA Change: Y246F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211092
Predicted Effect probably damaging
Transcript: ENSMUST00000211140
AA Change: Y246F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211788
AA Change: Y259F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
Acss1 A T 2: 150,480,387 (GRCm39) V228E probably damaging Het
Ampd1 T A 3: 102,992,693 (GRCm39) M145K probably damaging Het
Ankhd1 G A 18: 36,781,599 (GRCm39) S2217N probably benign Het
Asph T A 4: 9,598,759 (GRCm39) D211V probably damaging Het
Cd55b A T 1: 130,316,413 (GRCm39) W379R probably damaging Het
Derl3 A G 10: 75,730,950 (GRCm39) T201A probably damaging Het
Efcab6 A G 15: 83,783,898 (GRCm39) L1008P probably damaging Het
Eif4g3 A G 4: 137,853,522 (GRCm39) I363V probably benign Het
Heatr5a A G 12: 51,961,804 (GRCm39) F1058L probably damaging Het
Hmcn1 A T 1: 150,522,583 (GRCm39) M3439K probably benign Het
Ift140 C A 17: 25,253,009 (GRCm39) probably benign Het
Itgad A G 7: 127,792,888 (GRCm39) Y832C probably damaging Het
Itgb2 T A 10: 77,385,833 (GRCm39) D265E possibly damaging Het
Kif19a A T 11: 114,676,393 (GRCm39) E449V probably damaging Het
Krt40 T C 11: 99,429,461 (GRCm39) E291G probably damaging Het
Lama2 T C 10: 26,980,124 (GRCm39) N1897S probably damaging Het
Lepr A G 4: 101,639,835 (GRCm39) Y767C probably damaging Het
Lrrtm4 A G 6: 80,786,031 (GRCm39) H546R probably benign Het
Marchf6 A G 15: 31,486,266 (GRCm39) S362P probably benign Het
Med12l A G 3: 59,001,067 (GRCm39) Y734C probably damaging Het
Mrps18a C T 17: 46,433,725 (GRCm39) R74C probably damaging Het
Mvk A G 5: 114,588,880 (GRCm39) E174G probably benign Het
Naip2 A G 13: 100,296,722 (GRCm39) S1105P probably damaging Het
Nrxn3 A G 12: 89,221,624 (GRCm39) M468V probably benign Het
Obscn T C 11: 58,984,175 (GRCm39) E1760G probably damaging Het
Pcsk5 C A 19: 17,652,832 (GRCm39) G285W probably damaging Het
Pgpep1l A G 7: 67,886,721 (GRCm39) I196T probably benign Het
Phf14 T C 6: 11,987,611 (GRCm39) M630T probably benign Het
Plod2 T C 9: 92,477,442 (GRCm39) probably benign Het
Poldip2 G A 11: 78,403,162 (GRCm39) A9T probably benign Het
Pou2f1 A G 1: 165,703,396 (GRCm39) S718P probably damaging Het
Pramel34 G A 5: 93,786,503 (GRCm39) P89S possibly damaging Het
Pudp T C 18: 50,701,403 (GRCm39) H110R probably benign Het
Scaf4 C T 16: 90,042,403 (GRCm39) G646E unknown Het
Sec16a T A 2: 26,318,149 (GRCm39) probably benign Het
Serpina5 A G 12: 104,070,116 (GRCm39) T338A probably benign Het
Shisa5 T G 9: 108,885,080 (GRCm39) F118V probably damaging Het
Slc6a21 G A 7: 44,936,061 (GRCm39) probably benign Het
Sprtn T A 8: 125,630,126 (GRCm39) V473E probably benign Het
Styxl1 A G 5: 135,787,996 (GRCm39) I165T probably damaging Het
Tal2 T A 4: 53,785,906 (GRCm39) I29N probably damaging Het
Tas2r134 T C 2: 51,517,839 (GRCm39) I106T probably damaging Het
Tmem259 G A 10: 79,814,973 (GRCm39) T217I probably damaging Het
Trpc6 T C 9: 8,655,339 (GRCm39) I723T probably damaging Het
Vmn1r211 A T 13: 23,036,418 (GRCm39) V83D probably damaging Het
Vmn2r103 G T 17: 20,032,510 (GRCm39) M761I probably benign Het
Ybey A T 10: 76,304,160 (GRCm39) I14N probably damaging 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
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
R8003:Ptpre UTSW 7 135,270,765 (GRCm39) missense probably damaging 0.96
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
Posted On 2015-04-16