Incidental Mutation 'IGL01019:Ptpre'
ID 53689
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 # IGL01019
Quality Score
Status
Chromosome 7
Chromosomal Location 135139210-135288022 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 135280054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 586 (K586*)
Ref Sequence ENSEMBL: ENSMUSP00000147524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073961] [ENSMUST00000209256] [ENSMUST00000209979] [ENSMUST00000210833] [ENSMUST00000211140] [ENSMUST00000211788]
AlphaFold P49446
Predicted Effect probably null
Transcript: ENSMUST00000073961
AA Change: K573*
SMART Domains Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: K573*

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 null
Transcript: ENSMUST00000209256
AA Change: K593*
Predicted Effect probably null
Transcript: ENSMUST00000209979
AA Change: K516*
Predicted Effect probably null
Transcript: ENSMUST00000210833
AA Change: K573*
Predicted Effect probably null
Transcript: ENSMUST00000211140
AA Change: K573*
Predicted Effect probably null
Transcript: ENSMUST00000211788
AA Change: K586*
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Ptpre
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Ptpre APN 7 135,260,782 (GRCm39) missense probably damaging 0.98
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
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 2013-06-28