Incidental Mutation 'R0458:Ptpru'
ID 41292
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 038658-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0458 (G1)
Quality Score 224
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131526986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 662 (V662E)
Ref Sequence ENSEMBL: ENSMUSP00000101607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000097860] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030741
AA Change: V662E

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: V662E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
MAM 22 188 5.58e-68 SMART
IG 195 283 4.93e-3 SMART
FN3 285 368 3.79e-2 SMART
FN3 384 472 2.5e-2 SMART
FN3 488 576 3.62e-8 SMART
low complexity region 627 641 N/A INTRINSIC
low complexity region 667 677 N/A INTRINSIC
transmembrane domain 747 769 N/A INTRINSIC
PTPc 893 1146 5.95e-102 SMART
PTPc 1175 1441 3.67e-93 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000097860
AA Change: V590E

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: V590E

DomainStartEndE-ValueType
Pfam:MAM 1 116 4.1e-30 PFAM
IG 123 211 4.93e-3 SMART
FN3 213 296 3.79e-2 SMART
FN3 312 400 2.5e-2 SMART
FN3 416 504 3.62e-8 SMART
low complexity region 555 569 N/A INTRINSIC
low complexity region 595 605 N/A INTRINSIC
transmembrane domain 675 697 N/A INTRINSIC
Blast:PTPc 736 878 3e-49 BLAST
SCOP:d1jlna_ 790 886 9e-19 SMART
PDB:2C7S|A 797 878 7e-22 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000105987
AA Change: V662E

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: V662E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
MAM 22 188 5.58e-68 SMART
IG 195 283 4.93e-3 SMART
FN3 285 368 3.79e-2 SMART
FN3 384 472 2.5e-2 SMART
FN3 488 576 3.62e-8 SMART
low complexity region 627 641 N/A INTRINSIC
low complexity region 667 677 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
PTPc 883 1136 5.95e-102 SMART
PTPc 1165 1431 3.67e-93 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154224
Meta Mutation Damage Score 0.0826 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (79/79)
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 PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik A G 1: 85,856,747 (GRCm39) E8G unknown Het
9130008F23Rik T C 17: 41,191,127 (GRCm39) T101A probably benign Het
Abcb8 C T 5: 24,611,231 (GRCm39) T455I probably benign Het
Abcb9 C A 5: 124,220,209 (GRCm39) probably null Het
Akp3 T G 1: 87,054,259 (GRCm39) Y265* probably null Het
Atp6v1b1 A T 6: 83,729,390 (GRCm39) D109V probably damaging Het
Aurka C A 2: 172,212,366 (GRCm39) E4* probably null Het
Cacna1g T A 11: 94,300,266 (GRCm39) Q2168L probably damaging Het
Cdc45 T A 16: 18,600,722 (GRCm39) probably benign Het
Cfap61 T C 2: 145,850,837 (GRCm39) V325A probably benign Het
Clasp2 T A 9: 113,735,292 (GRCm39) probably null Het
Crim1 T A 17: 78,620,655 (GRCm39) I365N probably damaging Het
Dcaf8 A G 1: 172,001,610 (GRCm39) N269S probably benign Het
Dnaaf5 T C 5: 139,147,633 (GRCm39) V399A possibly damaging Het
Ear2 A G 14: 44,340,705 (GRCm39) Y121C probably damaging Het
Eef2k T C 7: 120,502,513 (GRCm39) Y692H probably damaging Het
Elavl2 A T 4: 91,197,104 (GRCm39) probably benign Het
Epn2 C A 11: 61,437,281 (GRCm39) R97L possibly damaging Het
Fam243 T C 16: 92,117,995 (GRCm39) I98V probably benign Het
Fzd6 G A 15: 38,894,676 (GRCm39) A281T probably damaging Het
Garem2 T A 5: 30,319,180 (GRCm39) I214N probably damaging Het
Glg1 A G 8: 111,887,238 (GRCm39) probably benign Het
Golm1 T C 13: 59,812,178 (GRCm39) E48G probably damaging Het
Gpaa1 G T 15: 76,216,233 (GRCm39) R12L probably benign Het
Gstm1 T A 3: 107,924,679 (GRCm39) T34S probably benign Het
Gtf3c1 G A 7: 125,243,306 (GRCm39) P1766L possibly damaging Het
Herc1 A T 9: 66,383,663 (GRCm39) Q3709L probably benign Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Icam1 A G 9: 20,939,157 (GRCm39) probably null Het
Itga9 T C 9: 118,510,096 (GRCm39) probably null Het
Kif15 T C 9: 122,838,424 (GRCm39) F1121L probably benign Het
Klhl30 T A 1: 91,288,718 (GRCm39) probably benign Het
Ldlrad1 T C 4: 107,073,387 (GRCm39) C141R probably damaging Het
Lemd2 T C 17: 27,409,627 (GRCm39) D508G probably damaging Het
Lilra5 A C 7: 4,241,218 (GRCm39) T52P probably benign Het
Lrtm2 G A 6: 119,294,229 (GRCm39) P301S probably damaging Het
Mcoln2 A G 3: 145,855,768 (GRCm39) probably benign Het
Mkrn2os A G 6: 115,563,631 (GRCm39) S135P probably damaging Het
Mlxipl T C 5: 135,162,224 (GRCm39) V607A probably benign Het
Mmadhc T C 2: 50,171,173 (GRCm39) Y213C probably benign Het
Mpo C A 11: 87,687,123 (GRCm39) A223E probably benign Het
Mthfd2l C G 5: 91,168,036 (GRCm39) I310M probably damaging Het
Muc5b C A 7: 141,418,709 (GRCm39) A3885D probably benign Het
Mvp A G 7: 126,597,663 (GRCm39) W152R probably damaging Het
Nmur2 A T 11: 55,931,394 (GRCm39) F106I possibly damaging Het
Nr3c2 T A 8: 77,636,167 (GRCm39) F423I probably damaging Het
Or1l8 A G 2: 36,817,349 (GRCm39) V259A probably damaging Het
Or5m5 A G 2: 85,814,600 (GRCm39) S139G probably benign Het
Or8c16 G A 9: 38,130,344 (GRCm39) C75Y probably damaging Het
Or9q1 G T 19: 13,805,593 (GRCm39) H56N probably benign Het
Pappa A G 4: 65,074,119 (GRCm39) I224M probably damaging Het
Prex1 A C 2: 166,427,743 (GRCm39) S800A probably damaging Het
Prkaca T C 8: 84,721,911 (GRCm39) probably benign Het
Rabep1 T A 11: 70,777,824 (GRCm39) probably null Het
Rbms2 C T 10: 127,987,058 (GRCm39) C50Y probably damaging Het
Rd3 C T 1: 191,709,414 (GRCm39) P25S probably damaging Het
Rnf148 T G 6: 23,654,256 (GRCm39) I247L probably benign Het
Sf3b3 A G 8: 111,538,768 (GRCm39) probably benign Het
Slc35c1 A T 2: 92,284,858 (GRCm39) F252Y probably damaging Het
Slc38a11 T C 2: 65,193,813 (GRCm39) probably null Het
Snx6 G T 12: 54,814,921 (GRCm39) Y17* probably null Het
Sox6 C A 7: 115,089,029 (GRCm39) R611L probably damaging Het
Spata13 G A 14: 60,929,492 (GRCm39) R350H probably damaging Het
Sppl2a G T 2: 126,746,879 (GRCm39) A483D probably damaging Het
Stat1 C T 1: 52,188,211 (GRCm39) probably benign Het
Tab2 A T 10: 7,795,319 (GRCm39) Y314N probably damaging Het
Tor1aip1 T C 1: 155,906,153 (GRCm39) N213S probably damaging Het
Trim39 T C 17: 36,572,404 (GRCm39) K300E probably damaging Het
Tubal3 T C 13: 3,983,137 (GRCm39) S306P probably damaging Het
Ufm1 A G 3: 53,768,655 (GRCm39) L33P probably damaging Het
Washc4 G A 10: 83,382,663 (GRCm39) V26I possibly damaging Het
Wfs1 A G 5: 37,126,013 (GRCm39) Y293H probably damaging Het
Zbtb41 T C 1: 139,351,214 (GRCm39) V109A probably damaging Het
Zfp667 T C 7: 6,307,844 (GRCm39) S171P probably benign Het
Zkscan5 T A 5: 145,142,281 (GRCm39) H59Q probably damaging Het
Zswim8 C T 14: 20,768,965 (GRCm39) R1128W probably damaging Het
Other mutations in Ptpru
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Ptpru APN 4 131,535,546 (GRCm39) missense probably benign 0.00
IGL00966:Ptpru APN 4 131,499,927 (GRCm39) missense probably damaging 1.00
IGL01451:Ptpru APN 4 131,496,803 (GRCm39) utr 3 prime probably benign
IGL01453:Ptpru APN 4 131,496,803 (GRCm39) utr 3 prime probably benign
IGL01606:Ptpru APN 4 131,535,792 (GRCm39) missense possibly damaging 0.69
IGL02451:Ptpru APN 4 131,504,086 (GRCm39) splice site probably benign
IGL03135:Ptpru APN 4 131,546,111 (GRCm39) missense probably damaging 0.97
IGL03366:Ptpru APN 4 131,507,178 (GRCm39) missense probably damaging 1.00
PIT4366001:Ptpru UTSW 4 131,527,023 (GRCm39) missense probably benign 0.03
PIT4576001:Ptpru UTSW 4 131,529,855 (GRCm39) nonsense probably null
R0299:Ptpru UTSW 4 131,530,698 (GRCm39) nonsense probably null
R0502:Ptpru UTSW 4 131,520,954 (GRCm39) missense probably benign 0.02
R0503:Ptpru UTSW 4 131,520,954 (GRCm39) missense probably benign 0.02
R0619:Ptpru UTSW 4 131,548,198 (GRCm39) missense possibly damaging 0.91
R0639:Ptpru UTSW 4 131,498,490 (GRCm39) missense possibly damaging 0.49
R0843:Ptpru UTSW 4 131,525,259 (GRCm39) missense probably benign 0.10
R1065:Ptpru UTSW 4 131,535,651 (GRCm39) missense possibly damaging 0.49
R1170:Ptpru UTSW 4 131,535,838 (GRCm39) splice site probably benign
R1382:Ptpru UTSW 4 131,535,540 (GRCm39) missense probably damaging 0.98
R1442:Ptpru UTSW 4 131,535,580 (GRCm39) missense probably benign 0.00
R1538:Ptpru UTSW 4 131,501,662 (GRCm39) missense probably damaging 0.99
R1624:Ptpru UTSW 4 131,499,861 (GRCm39) missense probably damaging 1.00
R1688:Ptpru UTSW 4 131,514,656 (GRCm39) missense probably benign 0.01
R1699:Ptpru UTSW 4 131,506,361 (GRCm39) missense probably damaging 1.00
R1740:Ptpru UTSW 4 131,520,989 (GRCm39) splice site probably null
R1874:Ptpru UTSW 4 131,497,066 (GRCm39) missense probably benign
R1959:Ptpru UTSW 4 131,530,788 (GRCm39) missense probably damaging 1.00
R2051:Ptpru UTSW 4 131,546,398 (GRCm39) missense possibly damaging 0.80
R2200:Ptpru UTSW 4 131,548,124 (GRCm39) missense probably damaging 1.00
R2281:Ptpru UTSW 4 131,535,810 (GRCm39) missense probably damaging 1.00
R2304:Ptpru UTSW 4 131,499,879 (GRCm39) missense probably damaging 1.00
R2411:Ptpru UTSW 4 131,498,780 (GRCm39) missense probably damaging 1.00
R2845:Ptpru UTSW 4 131,546,972 (GRCm39) missense probably benign 0.00
R3767:Ptpru UTSW 4 131,535,735 (GRCm39) missense probably damaging 1.00
R3768:Ptpru UTSW 4 131,535,735 (GRCm39) missense probably damaging 1.00
R3769:Ptpru UTSW 4 131,535,735 (GRCm39) missense probably damaging 1.00
R3770:Ptpru UTSW 4 131,535,735 (GRCm39) missense probably damaging 1.00
R3937:Ptpru UTSW 4 131,501,615 (GRCm39) missense probably damaging 0.99
R4079:Ptpru UTSW 4 131,526,021 (GRCm39) critical splice donor site probably null
R4110:Ptpru UTSW 4 131,546,348 (GRCm39) missense probably damaging 1.00
R4170:Ptpru UTSW 4 131,503,659 (GRCm39) missense probably damaging 1.00
R4716:Ptpru UTSW 4 131,548,279 (GRCm39) missense probably benign
R4751:Ptpru UTSW 4 131,529,897 (GRCm39) missense probably damaging 0.97
R4766:Ptpru UTSW 4 131,548,275 (GRCm39) missense probably damaging 1.00
R4825:Ptpru UTSW 4 131,526,914 (GRCm39) missense probably benign
R4900:Ptpru UTSW 4 131,515,693 (GRCm39) missense probably damaging 0.99
R4998:Ptpru UTSW 4 131,504,196 (GRCm39) missense probably damaging 1.00
R5279:Ptpru UTSW 4 131,547,334 (GRCm39) missense possibly damaging 0.62
R5464:Ptpru UTSW 4 131,499,868 (GRCm39) missense probably damaging 1.00
R5625:Ptpru UTSW 4 131,530,691 (GRCm39) missense probably null 1.00
R5667:Ptpru UTSW 4 131,547,501 (GRCm39) missense possibly damaging 0.94
R5671:Ptpru UTSW 4 131,547,501 (GRCm39) missense possibly damaging 0.94
R5735:Ptpru UTSW 4 131,565,401 (GRCm39) missense probably benign 0.01
R5802:Ptpru UTSW 4 131,515,688 (GRCm39) missense possibly damaging 0.84
R5809:Ptpru UTSW 4 131,513,067 (GRCm39) missense probably benign 0.34
R5953:Ptpru UTSW 4 131,504,148 (GRCm39) missense probably damaging 1.00
R5973:Ptpru UTSW 4 131,546,236 (GRCm39) missense probably benign 0.00
R6029:Ptpru UTSW 4 131,498,604 (GRCm39) missense probably damaging 1.00
R6072:Ptpru UTSW 4 131,503,539 (GRCm39) missense probably damaging 0.99
R6089:Ptpru UTSW 4 131,499,941 (GRCm39) missense possibly damaging 0.94
R6174:Ptpru UTSW 4 131,513,065 (GRCm39) missense probably benign
R6177:Ptpru UTSW 4 131,520,836 (GRCm39) missense probably benign 0.00
R6367:Ptpru UTSW 4 131,501,663 (GRCm39) missense probably benign 0.18
R6682:Ptpru UTSW 4 131,548,093 (GRCm39) missense probably benign
R6950:Ptpru UTSW 4 131,503,663 (GRCm39) missense probably damaging 0.99
R7159:Ptpru UTSW 4 131,546,851 (GRCm39) missense probably damaging 1.00
R7736:Ptpru UTSW 4 131,515,693 (GRCm39) missense probably damaging 1.00
R7960:Ptpru UTSW 4 131,515,820 (GRCm39) missense probably benign 0.01
R8094:Ptpru UTSW 4 131,520,903 (GRCm39) missense possibly damaging 0.88
R8262:Ptpru UTSW 4 131,522,274 (GRCm39) nonsense probably null
R8276:Ptpru UTSW 4 131,506,484 (GRCm39) missense probably damaging 1.00
R8355:Ptpru UTSW 4 131,535,811 (GRCm39) missense probably damaging 1.00
R8377:Ptpru UTSW 4 131,535,646 (GRCm39) missense probably damaging 1.00
R8416:Ptpru UTSW 4 131,535,783 (GRCm39) missense probably damaging 1.00
R8858:Ptpru UTSW 4 131,526,825 (GRCm39) splice site probably benign
R8911:Ptpru UTSW 4 131,503,560 (GRCm39) missense probably damaging 0.96
R8934:Ptpru UTSW 4 131,546,297 (GRCm39) missense probably damaging 0.98
R9031:Ptpru UTSW 4 131,515,691 (GRCm39) missense probably damaging 1.00
R9069:Ptpru UTSW 4 131,503,565 (GRCm39) missense possibly damaging 0.87
R9096:Ptpru UTSW 4 131,499,843 (GRCm39) missense probably damaging 1.00
R9097:Ptpru UTSW 4 131,499,843 (GRCm39) missense probably damaging 1.00
R9151:Ptpru UTSW 4 131,522,278 (GRCm39) missense probably benign
R9166:Ptpru UTSW 4 131,525,180 (GRCm39) missense probably benign 0.00
R9174:Ptpru UTSW 4 131,535,746 (GRCm39) missense probably damaging 1.00
R9242:Ptpru UTSW 4 131,530,341 (GRCm39) missense probably damaging 1.00
R9698:Ptpru UTSW 4 131,547,531 (GRCm39) missense probably benign 0.09
X0024:Ptpru UTSW 4 131,498,501 (GRCm39) missense probably benign 0.15
Z1177:Ptpru UTSW 4 131,535,573 (GRCm39) missense probably damaging 0.99
Z1177:Ptpru UTSW 4 131,527,017 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGCTTGCTGCCTGGAAATAGATG -3'
(R):5'- GTTTTGCTTCGCACATACGAGGG -3'

Sequencing Primer
(F):5'- TTGCTGCCTGGAAATAGATGAGATAG -3'
(R):5'- gcagaggaggaaactgagg -3'
Posted On 2013-05-23