Incidental Mutation 'R7459:Ptpre'
ID 578318
Institutional Source Beutler Lab
Gene Symbol Ptpre
Ensembl Gene ENSMUSG00000041836
Gene Name protein tyrosine phosphatase receptor type E
Synonyms RPTPepsilon, PTPepsilon, PTPe
MMRRC Submission 045533-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 135139210-135288022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135269329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 277 (N277S)
Ref Sequence ENSEMBL: ENSMUSP00000147656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073961] [ENSMUST00000209256] [ENSMUST00000209979] [ENSMUST00000210833] [ENSMUST00000211140] [ENSMUST00000211788]
AlphaFold P49446
Predicted Effect probably benign
Transcript: ENSMUST00000073961
AA Change: N257S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: N257S

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 benign
Transcript: ENSMUST00000209256
AA Change: N277S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209979
AA Change: N200S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210833
AA Change: N257S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211140
AA Change: N257S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211788
AA Change: N270S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGTCCACAGCCACATTTG -3'
(R):5'- CCATGCTATGAGTGGGTCAAG -3'

Sequencing Primer
(F):5'- ACATTTGCCACCTCGGAG -3'
(R):5'- CAAGGTGGGGCAGCTGTTC -3'
Posted On 2019-10-07