Incidental Mutation 'R1442:Ptpru'
ID 161525
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 039497-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1442 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131535580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 466 (T466S)
Ref Sequence ENSEMBL: ENSMUSP00000101607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000097860] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect probably benign
Transcript: ENSMUST00000030741
AA Change: T466S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: T466S

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: T394S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: T394S

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
AA Change: T466S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: T466S

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: ENSMUST00000127633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139641
Meta Mutation Damage Score 0.0972 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.4%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,839,833 (GRCm39) probably benign Het
Adamts7 T A 9: 90,070,823 (GRCm39) I648N probably damaging Het
Akap13 T A 7: 75,385,526 (GRCm39) F2252I probably damaging Het
Akr1c6 A T 13: 4,507,159 (GRCm39) H314L probably damaging Het
Anxa3 T A 5: 96,976,549 (GRCm39) probably null Het
Apob T G 12: 8,036,165 (GRCm39) F298V probably benign Het
Atp8a2 A C 14: 60,097,772 (GRCm39) probably benign Het
Atp8b5 A T 4: 43,334,313 (GRCm39) T360S probably damaging Het
BC051665 A T 13: 60,932,555 (GRCm39) N43K probably benign Het
Bicral T A 17: 47,112,650 (GRCm39) H850L probably benign Het
C1qtnf1 A G 11: 118,339,011 (GRCm39) D227G probably damaging Het
C8a T A 4: 104,685,275 (GRCm39) T323S possibly damaging Het
Cep89 T C 7: 35,117,636 (GRCm39) probably benign Het
Cercam G T 2: 29,770,652 (GRCm39) V408L probably benign Het
CN725425 G A 15: 91,123,158 (GRCm39) V76M possibly damaging Het
Cops7b T A 1: 86,532,835 (GRCm39) M231K probably benign Het
Cpa2 T A 6: 30,544,865 (GRCm39) probably null Het
Dab2ip A T 2: 35,600,268 (GRCm39) I287F probably damaging Het
Defb10 A T 8: 22,348,944 (GRCm39) M1L probably benign Het
Dscam C A 16: 96,409,274 (GRCm39) R1883L possibly damaging Het
Dsg4 T A 18: 20,595,717 (GRCm39) I640N possibly damaging Het
Duox2 G C 2: 122,112,232 (GRCm39) P1318R probably benign Het
Dzip3 T C 16: 48,765,985 (GRCm39) D466G probably benign Het
E230025N22Rik T A 18: 36,824,462 (GRCm39) probably null Het
E2f3 A G 13: 30,102,652 (GRCm39) L80P probably damaging Het
Eif2b2 T C 12: 85,266,360 (GRCm39) S9P probably benign Het
Etaa1 A T 11: 17,897,201 (GRCm39) D305E probably benign Het
Fads6 C A 11: 115,188,235 (GRCm39) R23L probably benign Het
Flrt2 T C 12: 95,746,979 (GRCm39) V439A probably damaging Het
Galm A C 17: 80,452,614 (GRCm39) Q184P probably damaging Het
Gtse1 C T 15: 85,744,303 (GRCm39) probably benign Het
Irf7 T C 7: 140,843,935 (GRCm39) T246A probably damaging Het
Kif28 A G 1: 179,532,697 (GRCm39) V639A possibly damaging Het
Klhdc8a G A 1: 132,230,385 (GRCm39) A167T possibly damaging Het
Lrfn3 T C 7: 30,059,469 (GRCm39) H252R probably benign Het
Lzts1 G T 8: 69,591,638 (GRCm39) A170E probably damaging Het
Mphosph9 T A 5: 124,403,461 (GRCm39) I856F possibly damaging Het
Mroh2a C T 1: 88,160,075 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Myh3 A G 11: 66,978,103 (GRCm39) N392D possibly damaging Het
Naalad2 T C 9: 18,262,328 (GRCm39) probably benign Het
Npc1 T A 18: 12,328,106 (GRCm39) M1068L probably benign Het
Nup58 T A 14: 60,469,992 (GRCm39) probably benign Het
Or10c1 T C 17: 37,522,595 (GRCm39) T50A probably benign Het
Or4k40 A T 2: 111,250,438 (GRCm39) I286N probably damaging Het
Or8b1 A T 9: 38,399,939 (GRCm39) I205F probably benign Het
Or8s16 T C 15: 98,211,068 (GRCm39) Y121C probably damaging Het
Parp2 T G 14: 51,056,732 (GRCm39) probably null Het
Ppp4r4 T C 12: 103,564,504 (GRCm39) V9A probably damaging Het
Ptprc T A 1: 138,000,050 (GRCm39) D856V probably damaging Het
Rhob A G 12: 8,549,325 (GRCm39) V103A possibly damaging Het
Sec23ip A C 7: 128,378,510 (GRCm39) S775R probably benign Het
Slit2 T G 5: 48,395,725 (GRCm39) D709E probably damaging Het
Smok2b C G 17: 13,454,390 (GRCm39) I183M probably damaging Het
Smtnl1 T A 2: 84,648,780 (GRCm39) D158V probably damaging Het
Syne2 T C 12: 75,993,489 (GRCm39) I2087T probably damaging Het
Tada1 G A 1: 166,214,319 (GRCm39) R106H possibly damaging Het
Tecta T A 9: 42,243,778 (GRCm39) I2025F probably damaging Het
Themis T C 10: 28,658,131 (GRCm39) V386A probably damaging Het
Ubr5 G A 15: 38,015,168 (GRCm39) probably benign Het
Vcl T A 14: 21,033,446 (GRCm39) I134N probably damaging Het
Vegfa G A 17: 46,336,418 (GRCm39) T56I possibly damaging Het
Vmn2r108 T A 17: 20,692,623 (GRCm39) K78* probably null Het
Vmn2r82 A T 10: 79,215,201 (GRCm39) T395S probably benign Het
Wbp2nl T C 15: 82,198,407 (GRCm39) S315P probably benign Het
Zfp566 T C 7: 29,777,344 (GRCm39) Y279C probably damaging Het
Zmym2 T C 14: 57,180,784 (GRCm39) Y899H 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
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
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'- GGGCGTGGAATAAACTCTCACAAAGC -3'
(R):5'- AGCCCCTGGGCTATAATGTCACAC -3'

Sequencing Primer
(F):5'- gcaagcagaaggacccag -3'
(R):5'- GGCTATAATGTCACACGTTGTC -3'
Posted On 2014-03-14