Incidental Mutation 'R9151:Ptpru'
ID 695023
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 068973-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9151 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131522278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 709 (Y709C)
Ref Sequence ENSEMBL: ENSMUSP00000095472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000097860] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect probably damaging
Transcript: ENSMUST00000030741
AA Change: Y781C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: Y781C

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 probably benign
Transcript: ENSMUST00000097860
AA Change: Y709C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: Y709C

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 probably benign
Transcript: ENSMUST00000105987
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,188,908 (GRCm39) F850L probably benign Het
Adam1a A T 5: 121,657,411 (GRCm39) D627E probably damaging Het
Add2 C A 6: 86,081,459 (GRCm39) probably benign Het
Anpep T C 7: 79,491,785 (GRCm39) N72S probably benign Het
Aqp6 A G 15: 99,501,655 (GRCm39) T238A possibly damaging Het
Arhgef38 G T 3: 132,912,706 (GRCm39) T111K Het
Atg10 A G 13: 91,189,032 (GRCm39) Y93H probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cald1 A G 6: 34,732,682 (GRCm39) N286S unknown Het
Caps2 A T 10: 112,031,829 (GRCm39) I322F possibly damaging Het
Cbx3 T A 6: 51,455,533 (GRCm39) S95T probably benign Het
Ccdc24 T C 4: 117,727,102 (GRCm39) T83A unknown Het
Cntn1 T C 15: 92,140,864 (GRCm39) Y197H probably damaging Het
Cpd A G 11: 76,675,275 (GRCm39) I1282T possibly damaging Het
Crat A T 2: 30,295,052 (GRCm39) S454R probably damaging Het
D2hgdh G A 1: 93,754,338 (GRCm39) V126I probably benign Het
Dcst1 A G 3: 89,271,558 (GRCm39) V75A probably benign Het
Dnm1l T C 16: 16,176,668 (GRCm39) D21G probably benign Het
Evc2 A G 5: 37,504,823 (GRCm39) N74D probably benign Het
Gm19965 A T 1: 116,748,942 (GRCm39) M208L Het
Gprc6a T G 10: 51,497,182 (GRCm39) T454P possibly damaging Het
Gprin1 C T 13: 54,886,778 (GRCm39) V499M probably benign Het
Gtf3c5 A G 2: 28,463,577 (GRCm39) Y194H probably damaging Het
Hcn4 T C 9: 58,767,880 (GRCm39) V1147A possibly damaging Het
Ighv1-82 A C 12: 115,916,342 (GRCm39) V56G probably damaging Het
Ins2 T C 7: 142,232,505 (GRCm39) D93G possibly damaging Het
Itgb8 A G 12: 119,130,535 (GRCm39) S658P probably benign Het
Kcnmb1 T C 11: 33,920,263 (GRCm39) F159L probably benign Het
Klf1 C T 8: 85,629,954 (GRCm39) L260F probably benign Het
Larp4 T A 15: 99,888,205 (GRCm39) S140T possibly damaging Het
Maneal C A 4: 124,755,542 (GRCm39) R140L probably benign Het
Mfsd11 T A 11: 116,750,323 (GRCm39) V114D Het
Muc4 A G 16: 32,752,617 (GRCm38) T832A probably benign Het
Myh11 T G 16: 14,050,439 (GRCm39) I509L Het
Myh13 A T 11: 67,252,149 (GRCm39) E1419V probably damaging Het
Myh7b A G 2: 155,474,439 (GRCm39) E1718G probably damaging Het
Myo9b T A 8: 71,807,871 (GRCm39) probably benign Het
Notch1 A T 2: 26,367,939 (GRCm39) L656Q probably benign Het
Nova1 A G 12: 46,746,813 (GRCm39) I488T probably damaging Het
Or51r1 A T 7: 102,228,500 (GRCm39) E266V probably damaging Het
Or5b113 A T 19: 13,342,222 (GRCm39) T77S possibly damaging Het
Or5b21 A G 19: 12,839,976 (GRCm39) Y279C probably damaging Het
Or5d18 A G 2: 87,864,697 (GRCm39) V262A probably damaging Het
Or6c35 A G 10: 129,169,623 (GRCm39) N291S probably damaging Het
Or6d13 A T 6: 116,517,990 (GRCm39) N192I possibly damaging Het
Pax6 C T 2: 105,523,097 (GRCm39) S325L probably benign Het
Phldb1 T C 9: 44,619,740 (GRCm39) D142G probably null Het
Phldb3 T G 7: 24,324,048 (GRCm39) probably benign Het
Pikfyve G T 1: 65,235,898 (GRCm39) R190L probably damaging Het
Plagl2 A T 2: 153,074,540 (GRCm39) H120Q probably damaging Het
Pou2f1 A T 1: 165,703,640 (GRCm39) probably benign Het
Pramel58 A G 5: 94,831,836 (GRCm39) Y281C possibly damaging Het
Prpf6 A G 2: 181,250,001 (GRCm39) R54G possibly damaging Het
Prss33 T C 17: 24,052,966 (GRCm39) E236G probably benign Het
Rcc1l A G 5: 134,197,057 (GRCm39) V212A probably benign Het
Rtl1 G A 12: 109,560,007 (GRCm39) L611F Het
Scp2 A G 4: 107,931,603 (GRCm39) I344T possibly damaging Het
Serpinb2 A T 1: 107,449,890 (GRCm39) D101V possibly damaging Het
Slc13a1 T C 6: 24,097,662 (GRCm39) T422A probably damaging Het
Slc38a10 G T 11: 120,007,762 (GRCm39) T406K probably benign Het
Smad4 T C 18: 73,782,806 (GRCm39) E376G probably damaging Het
Smarcb1 T C 10: 75,750,916 (GRCm39) E115G probably benign Het
Spata31h1 A T 10: 82,120,928 (GRCm39) H4027Q probably damaging Het
Taf5 G A 19: 47,063,370 (GRCm39) V307I probably damaging Het
Tnc T C 4: 63,938,686 (GRCm39) N51S possibly damaging Het
Trp53inp2 G T 2: 155,228,558 (GRCm39) R171L possibly damaging Het
Ttc13 A T 8: 125,402,021 (GRCm39) D579E probably benign Het
Ttn A T 2: 76,775,896 (GRCm39) N1761K unknown Het
Ttpa C T 4: 20,008,401 (GRCm39) probably benign Het
Ugt3a1 G A 15: 9,362,051 (GRCm39) V276I probably benign Het
Usp4 T A 9: 108,244,011 (GRCm39) H296Q probably benign Het
Vmn1r119 T A 7: 20,745,593 (GRCm39) H263L possibly damaging Het
Vmn2r81 A G 10: 79,103,905 (GRCm39) D176G Het
Wdr1 A T 5: 38,687,468 (GRCm39) probably benign Het
Zfp488 T G 14: 33,692,695 (GRCm39) Q156P possibly 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
R0458:Ptpru UTSW 4 131,526,986 (GRCm39) missense possibly damaging 0.49
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
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'- GACAGAATTTAATGCACACACTCG -3'
(R):5'- TCTGCAGCACACTTAGGGAAG -3'

Sequencing Primer
(F):5'- ATGTCAGCAATTCCTCGGAG -3'
(R):5'- CAGCACACTTAGGGAAGATTCTG -3'
Posted On 2022-01-20