Incidental Mutation 'R1688:Ptpru'
ID 189483
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 039721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1688 (G1)
Quality Score 212
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131514656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 866 (D866G)
Ref Sequence ENSEMBL: ENSMUSP00000095472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000097860] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect probably benign
Transcript: ENSMUST00000030741
AA Change: D938G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: D938G

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: D866G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: D866G

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: D928G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: D928G

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
Meta Mutation Damage Score 0.0966 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,002,695 (GRCm39) T20A probably benign Het
Acaca T G 11: 84,129,722 (GRCm39) V359G probably damaging Het
Adgb G A 10: 10,226,061 (GRCm39) R1359* probably null Het
Aggf1 T C 13: 95,501,275 (GRCm39) E369G probably damaging Het
Alkbh8 T A 9: 3,382,765 (GRCm39) D418E probably damaging Het
Alox8 T C 11: 69,080,732 (GRCm39) D203G probably benign Het
Ank A G 15: 27,557,320 (GRCm39) D168G probably damaging Het
Ap5m1 A G 14: 49,318,291 (GRCm39) probably null Het
Arhgap45 A G 10: 79,864,929 (GRCm39) Y964C probably damaging Het
Arhgef2 A G 3: 88,547,607 (GRCm39) D571G probably benign Het
Bdh2 A T 3: 135,007,399 (GRCm39) Y223F possibly damaging Het
Bin1 T C 18: 32,552,988 (GRCm39) probably benign Het
Bin1 G A 18: 32,558,025 (GRCm39) probably benign Het
Cacna1g T A 11: 94,316,779 (GRCm39) M1514L possibly damaging Het
Cd109 T A 9: 78,612,373 (GRCm39) F1253L probably benign Het
Cfap57 T A 4: 118,426,843 (GRCm39) E1065V probably null Het
Chmp2b T C 16: 65,347,922 (GRCm39) N14S probably benign Het
Cplane1 T C 15: 8,258,093 (GRCm39) V2113A probably benign Het
Crybg1 A T 10: 43,849,794 (GRCm39) F1660L probably damaging Het
Cyp2c37 T G 19: 39,982,887 (GRCm39) probably null Het
Daam1 A T 12: 71,993,820 (GRCm39) I408F unknown Het
Dsc3 T A 18: 20,099,284 (GRCm39) D744V probably damaging Het
Eprs1 T C 1: 185,117,093 (GRCm39) F379L probably damaging Het
Ewsr1 G T 11: 5,022,870 (GRCm39) D417E unknown Het
Eya4 A T 10: 22,999,759 (GRCm39) N424K probably damaging Het
Gm9312 A C 12: 24,301,920 (GRCm39) noncoding transcript Het
Havcr2 T C 11: 46,370,191 (GRCm39) I206T probably damaging Het
Igfbp2 T C 1: 72,864,125 (GRCm39) probably null Het
Ikzf2 T C 1: 69,581,439 (GRCm39) K196R possibly damaging Het
Il12rb1 G A 8: 71,272,046 (GRCm39) G587R probably damaging Het
Immt A T 6: 71,833,995 (GRCm39) H208L probably damaging Het
Kcnq2 C T 2: 180,728,826 (GRCm39) V540I probably damaging Het
Klk1b8 T A 7: 43,595,229 (GRCm39) probably benign Het
Mc2r T A 18: 68,541,090 (GRCm39) I68F possibly damaging Het
Neil3 T C 8: 54,054,069 (GRCm39) E320G probably damaging Het
Nell2 T C 15: 95,329,494 (GRCm39) T276A probably damaging Het
Nphp3 T C 9: 103,880,323 (GRCm39) L115P probably damaging Het
Nras T C 3: 102,967,689 (GRCm39) L95P probably benign Het
Ogt G A X: 100,699,296 (GRCm39) V190I probably damaging Het
Or11h6 A T 14: 50,880,705 (GRCm39) K322N probably benign Het
Or5t17 A G 2: 86,832,730 (GRCm39) Y139C probably benign Het
P2ry6 T A 7: 100,587,591 (GRCm39) H256L probably damaging Het
Pcbp4 T C 9: 106,338,533 (GRCm39) S153P probably damaging Het
Pclo T C 5: 14,838,507 (GRCm39) probably null Het
Per2 A G 1: 91,351,551 (GRCm39) L985P probably damaging Het
Pgap6 C T 17: 26,337,882 (GRCm39) A422V possibly damaging Het
Phip T C 9: 82,753,710 (GRCm39) N1678S probably benign Het
Pkd1l3 A G 8: 110,350,450 (GRCm39) S432G probably benign Het
Plin4 T A 17: 56,416,363 (GRCm39) D47V possibly damaging Het
Ppp2cb A G 8: 34,105,480 (GRCm39) I163M probably benign Het
Ptpdc1 T C 13: 48,739,700 (GRCm39) E577G probably benign Het
Ptprd G T 4: 75,900,921 (GRCm39) P1063T probably damaging Het
Rdx T C 9: 51,972,211 (GRCm39) probably benign Het
Rgsl1 C T 1: 153,680,422 (GRCm39) R760H probably damaging Het
Rhno1 A G 6: 128,334,897 (GRCm39) V142A probably benign Het
Sema5a C T 15: 32,669,570 (GRCm39) T698I probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Slc22a3 A T 17: 12,652,694 (GRCm39) M350K probably damaging Het
Spata31d1b T A 13: 59,863,274 (GRCm39) S141T possibly damaging Het
Tada2a T C 11: 83,975,585 (GRCm39) probably null Het
Tspan10 A G 11: 120,333,608 (GRCm39) M2V probably damaging Het
Ttll11 T C 2: 35,685,391 (GRCm39) T566A probably damaging Het
Vwa8 A G 14: 79,438,543 (GRCm39) Q1872R possibly damaging Het
Zfp605 T A 5: 110,276,907 (GRCm39) I675N possibly damaging Het
Zkscan8 A T 13: 21,704,324 (GRCm39) N538K 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
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'- TTCCTGAAGGCCAACAGCCATC -3'
(R):5'- GCACATGTTCCGTGTAGTCTTGTCC -3'

Sequencing Primer
(F):5'- GGCCAACAGCCATCCTCAG -3'
(R):5'- GGTCATACAGGAAATTGCTGCTTC -3'
Posted On 2014-05-14