Incidental Mutation 'R1624:Ptpru'
ID 174869
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 039661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1624 (G1)
Quality Score 163
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 131499861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1261 (T1261I)
Ref Sequence ENSEMBL: ENSMUSP00000101607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect probably damaging
Transcript: ENSMUST00000030741
AA Change: T1271I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: T1271I

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 damaging
Transcript: ENSMUST00000105987
AA Change: T1261I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: T1261I

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: ENSMUST00000144136
Meta Mutation Damage Score 0.8213 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,472,496 (GRCm39) Y68C probably damaging Het
6820408C15Rik A T 2: 152,276,031 (GRCm39) H81L probably damaging Het
Acbd4 A G 11: 102,994,785 (GRCm39) T48A probably damaging Het
Acp3 T A 9: 104,197,200 (GRCm39) E146D probably benign Het
Acsm1 T A 7: 119,251,796 (GRCm39) I307N probably damaging Het
Adcy4 T C 14: 56,019,384 (GRCm39) T89A possibly damaging Het
Agl T C 3: 116,580,895 (GRCm39) T356A probably benign Het
Ago1 A G 4: 126,357,534 (GRCm39) I47T probably damaging Het
Akr1c6 T A 13: 4,496,363 (GRCm39) Y75N probably benign Het
Anxa2 T A 9: 69,386,990 (GRCm39) S92T probably benign Het
Arid4b T C 13: 14,358,979 (GRCm39) S585P probably damaging Het
Arl4d T C 11: 101,557,842 (GRCm39) S123P possibly damaging Het
Atad2 A T 15: 57,963,415 (GRCm39) D1067E probably damaging Het
Brap C A 5: 121,820,922 (GRCm39) T403K possibly damaging Het
Brwd1 A T 16: 95,809,344 (GRCm39) N1895K possibly damaging Het
Ccdc187 T C 2: 26,171,087 (GRCm39) T464A probably benign Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdh11 T C 8: 103,391,233 (GRCm39) probably benign Het
Chd9 A T 8: 91,725,163 (GRCm39) Y691F probably benign Het
Clhc1 A T 11: 29,519,287 (GRCm39) I365F possibly damaging Het
Col11a1 A G 3: 113,951,804 (GRCm39) Q1078R probably damaging Het
Creb3 G A 4: 43,566,375 (GRCm39) V294I possibly damaging Het
Cspg4 T C 9: 56,795,754 (GRCm39) I1163T probably damaging Het
Cyp3a57 A C 5: 145,327,225 (GRCm39) probably null Het
Dnah3 A T 7: 119,618,918 (GRCm39) I1661N probably damaging Het
Dpysl4 A C 7: 138,669,469 (GRCm39) D49A probably damaging Het
Efhb T A 17: 53,733,306 (GRCm39) I522F probably damaging Het
Epha4 T C 1: 77,376,329 (GRCm39) T517A probably damaging Het
Fasn A G 11: 120,703,937 (GRCm39) S1466P probably damaging Het
Fgd6 A T 10: 93,973,298 (GRCm39) D1253V probably benign Het
Fjx1 G A 2: 102,281,509 (GRCm39) A142V probably benign Het
Foxb1 T C 9: 69,666,598 (GRCm39) T311A probably benign Het
Fpgs A G 2: 32,581,200 (GRCm39) probably null Het
Gm10024 A G 10: 77,547,606 (GRCm39) probably null Het
Gnat3 A T 5: 18,208,841 (GRCm39) T182S possibly damaging Het
Igsf3 T A 3: 101,362,543 (GRCm39) F875I probably benign Het
Kif13b A G 14: 64,976,068 (GRCm39) E461G probably damaging Het
Kif23 A T 9: 61,832,982 (GRCm39) probably null Het
Kntc1 G A 5: 123,896,540 (GRCm39) R134Q possibly damaging Het
Krt33a A T 11: 99,905,072 (GRCm39) Y145N probably damaging Het
Lama5 A G 2: 179,848,551 (GRCm39) V313A probably benign Het
Lamb1 T C 12: 31,328,651 (GRCm39) probably null Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mtor C T 4: 148,632,133 (GRCm39) L2336F probably damaging Het
Naglu T C 11: 100,967,351 (GRCm39) S434P probably damaging Het
Ncoa7 T A 10: 30,580,655 (GRCm39) H101L possibly damaging Het
Nlrc4 G A 17: 74,752,184 (GRCm39) T733I possibly damaging Het
Nr3c2 A G 8: 77,636,573 (GRCm39) E558G probably damaging Het
Nsun4 A T 4: 115,891,397 (GRCm39) N327K probably benign Het
Or11g27 A G 14: 50,771,100 (GRCm39) Y77C probably damaging Het
Or1x2 T C 11: 50,917,952 (GRCm39) V41A probably damaging Het
Or2m13 T A 16: 19,226,454 (GRCm39) Y104F probably benign Het
Or4f6 T A 2: 111,838,877 (GRCm39) Y218F probably damaging Het
Or6b13 T C 7: 139,781,864 (GRCm39) N273S probably damaging Het
Pdia2 T A 17: 26,415,495 (GRCm39) I441F probably damaging Het
Phyh T C 2: 4,930,494 (GRCm39) S74P probably benign Het
Pigo A G 4: 43,024,661 (GRCm39) L146P probably damaging Het
Plce1 A G 19: 38,713,219 (GRCm39) D1191G probably damaging Het
Plrg1 T C 3: 82,975,301 (GRCm39) probably benign Het
Plrg1 G A 3: 82,977,051 (GRCm39) R364Q probably damaging Het
Polr3b T C 10: 84,515,669 (GRCm39) L614S probably damaging Het
Pramel16 A T 4: 143,676,400 (GRCm39) C235S possibly damaging Het
Prrg4 A G 2: 104,663,027 (GRCm39) V193A probably damaging Het
Prss16 T A 13: 22,187,483 (GRCm39) E47V probably benign Het
Pycard A G 7: 127,591,970 (GRCm39) S124P possibly damaging Het
Riok1 C A 13: 38,221,487 (GRCm39) D17E probably damaging Het
Scin T A 12: 40,177,929 (GRCm39) Y102F probably benign Het
Scmh1 A G 4: 120,386,425 (GRCm39) H655R probably damaging Het
Scyl2 A T 10: 89,476,598 (GRCm39) N842K probably benign Het
Sec23b T A 2: 144,409,049 (GRCm39) M211K probably benign Het
Serpina3i A C 12: 104,234,897 (GRCm39) *409C probably null Het
Sgk2 G A 2: 162,839,779 (GRCm39) R129H probably benign Het
Slc39a13 A G 2: 90,898,871 (GRCm39) I80T probably damaging Het
Smarcad1 A G 6: 65,029,631 (GRCm39) D73G probably benign Het
Spata18 A C 5: 73,826,888 (GRCm39) T276P probably damaging Het
Srgap1 T G 10: 121,691,278 (GRCm39) M319L probably benign Het
Stx7 T A 10: 24,060,903 (GRCm39) V210E probably damaging Het
Tjp2 T A 19: 24,108,776 (GRCm39) H112L probably benign Het
Tuba8 A T 6: 121,197,385 (GRCm39) I16F probably damaging Het
Ube3c G A 5: 29,851,617 (GRCm39) A815T probably benign Het
Vmn2r5 A T 3: 64,417,116 (GRCm39) V14E probably benign Het
Vmn2r79 A T 7: 86,653,247 (GRCm39) probably null Het
Zdbf2 A G 1: 63,343,018 (GRCm39) T466A 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
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'- TCCCACTATGTGACCCTGGAGAAAG -3'
(R):5'- ACCCATGTGAGAGTACTGGCTTCTG -3'

Sequencing Primer
(F):5'- cctcttctctgttggtcttaattc -3'
(R):5'- CTGGGAGGCACTGCTTG -3'
Posted On 2014-04-24