Incidental Mutation 'R0502:Ptpru'
ID 47191
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 038697-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0502 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131520954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 784 (N784S)
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: N794S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: N794S

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: N722S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: N722S

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: N784S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: N784S

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: ENSMUST00000154224
Meta Mutation Damage Score 0.0668 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Ano1 A G 7: 144,150,952 (GRCm39) L821P probably damaging Het
Apol10b T A 15: 77,476,349 (GRCm39) probably benign Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccar2 A G 14: 70,378,431 (GRCm39) S625P probably benign Het
Ccdc110 A G 8: 46,387,761 (GRCm39) probably benign Het
Cep350 A T 1: 155,776,629 (GRCm39) probably null Het
Chd3 A G 11: 69,244,931 (GRCm39) V1203A probably damaging Het
Col24a1 A G 3: 145,251,071 (GRCm39) probably benign Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dicer1 A T 12: 104,671,319 (GRCm39) S984T probably damaging Het
Dmbt1 G A 7: 130,699,403 (GRCm39) probably null Het
Dnah7b A T 1: 46,258,704 (GRCm39) E1965V probably damaging Het
Dpp4 G T 2: 62,195,332 (GRCm39) N315K probably damaging Het
Eeig2 G A 3: 108,900,001 (GRCm39) R116C probably damaging Het
Fat4 T A 3: 39,057,073 (GRCm39) S4256R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Gpatch4 A G 3: 87,962,672 (GRCm39) D295G probably benign Het
Gpbar1 A T 1: 74,318,551 (GRCm39) I265F probably benign Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hacl1 A T 14: 31,344,941 (GRCm39) probably benign Het
Hnrnpc A G 14: 52,312,629 (GRCm39) probably benign Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ifnar1 T A 16: 91,298,639 (GRCm39) C419S probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Itga2 T G 13: 114,982,392 (GRCm39) N1038H probably benign Het
Kif16b C T 2: 142,554,075 (GRCm39) D908N probably benign Het
Lamc1 A G 1: 153,122,678 (GRCm39) probably benign Het
Lrig3 A G 10: 125,844,605 (GRCm39) T690A probably damaging Het
Lrp2 T C 2: 69,341,361 (GRCm39) K940E probably damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Ncam1 A G 9: 49,481,118 (GRCm39) probably benign Het
Nopchap1 A G 10: 83,197,920 (GRCm39) D42G probably damaging Het
Or2z2 T C 11: 58,346,140 (GRCm39) I212V possibly damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Pbrm1 T G 14: 30,786,777 (GRCm39) D631E probably benign Het
Pdc A T 1: 150,204,165 (GRCm39) probably benign Het
Pkd1 T C 17: 24,793,766 (GRCm39) S1818P probably damaging Het
Rab35 G A 5: 115,783,723 (GRCm39) R170Q probably benign Het
Rerg A T 6: 137,033,305 (GRCm39) C123* probably null Het
Ros1 A G 10: 52,070,919 (GRCm39) probably benign Het
Siglece A G 7: 43,309,355 (GRCm39) Y68H probably damaging Het
Slc28a2 T A 2: 122,288,762 (GRCm39) probably null Het
Slc4a11 T C 2: 130,530,077 (GRCm39) K234E probably damaging Het
Sqor C T 2: 122,639,970 (GRCm39) P158S probably benign Het
Tcerg1 C T 18: 42,656,021 (GRCm39) P110S unknown Het
Tm6sf2 T A 8: 70,530,591 (GRCm39) Y224N probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Ubap2l A T 3: 89,916,520 (GRCm39) L898Q probably damaging Het
Uggt1 A T 1: 36,199,027 (GRCm39) V1207E probably damaging Het
Uhrf2 A G 19: 30,070,176 (GRCm39) D775G probably damaging Het
Utp25 A T 1: 192,797,136 (GRCm39) probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn1r87 T G 7: 12,865,583 (GRCm39) T235P probably damaging Het
Vmn2r96 T A 17: 18,804,262 (GRCm39) M504K probably benign Het
Zdbf2 A T 1: 63,344,449 (GRCm39) I943F possibly damaging Het
Zfp78 A G 7: 6,376,157 (GRCm39) D22G probably damaging Het
Zfp827 C T 8: 79,905,706 (GRCm39) probably null Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null 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
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'- AGGAGTGTCTGAAGACCTGCCTAAC -3'
(R):5'- GTGGCCCTTCCACATCTAAAGAAGC -3'

Sequencing Primer
(F):5'- GCTCGAAGCAGCCTCTAAG -3'
(R):5'- GCATTTGCAATGCTGTAGACTTC -3'
Posted On 2013-06-12