Incidental Mutation 'R6089:Ptpru'
ID 484646
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 044246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6089 (G1)
Quality Score 141.008
Status Not validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 131499941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1244 (S1244R)
Ref Sequence ENSEMBL: ENSMUSP00000030741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030741
AA Change: S1244R

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: S1244R

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 possibly damaging
Transcript: ENSMUST00000105987
AA Change: S1234R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: S1234R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,335,132 (GRCm39) V95A probably damaging Het
Ankrd40 A T 11: 94,224,751 (GRCm39) K53N probably damaging Het
Ash1l C T 3: 88,960,450 (GRCm39) Q2338* probably null Het
Astn2 A G 4: 65,712,810 (GRCm39) F610S probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Btbd8 C T 5: 107,654,895 (GRCm39) A386V probably damaging Het
Calm4 A T 13: 3,887,874 (GRCm39) probably benign Het
Card10 T C 15: 78,686,614 (GRCm39) T68A probably benign Het
Cars2 A G 8: 11,580,301 (GRCm39) M245T probably damaging Het
Cat C A 2: 103,303,296 (GRCm39) L160F probably null Het
Cers5 G T 15: 99,638,883 (GRCm39) T144K probably benign Het
Cyp3a13 T A 5: 137,908,215 (GRCm39) L211F probably benign Het
Defb4 A T 8: 19,251,321 (GRCm39) R63* probably null Het
Dnah14 G T 1: 181,577,719 (GRCm39) W3012L probably damaging Het
Dusp18 A G 11: 3,847,555 (GRCm39) T182A probably benign Het
Dzip1l C A 9: 99,524,737 (GRCm39) T286K possibly damaging Het
Eif2ak3 A T 6: 70,873,918 (GRCm39) T944S possibly damaging Het
Fbn1 A T 2: 125,163,145 (GRCm39) I2119N possibly damaging Het
Gabbr2 A G 4: 46,846,448 (GRCm39) S154P probably damaging Het
Gm15440 A T 13: 51,845,437 (GRCm39) H107Q unknown Het
Grm2 G A 9: 106,531,090 (GRCm39) P133L probably damaging Het
Gsdme A G 6: 50,228,285 (GRCm39) V61A probably damaging Het
Gtpbp1 A G 15: 79,591,198 (GRCm39) T23A probably benign Het
Helz A T 11: 107,485,963 (GRCm39) probably null Het
Herc1 A C 9: 66,352,814 (GRCm39) H2100P probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ifngr1 T C 10: 19,482,048 (GRCm39) S213P probably benign Het
Itgb7 T C 15: 102,125,721 (GRCm39) D636G probably benign Het
Mre11a G A 9: 14,730,760 (GRCm39) D491N probably benign Het
Muc16 A G 9: 18,554,548 (GRCm39) L3915P unknown Het
Myh1 T A 11: 67,092,993 (GRCm39) probably null Het
Myh1 T G 11: 67,111,613 (GRCm39) probably null Het
Myh7b C T 2: 155,464,409 (GRCm39) T608M probably damaging Het
Myof T C 19: 37,955,508 (GRCm39) K23E probably benign Het
Nacad A G 11: 6,551,331 (GRCm39) V620A probably benign Het
Pbrm1 T C 14: 30,809,542 (GRCm39) Y1121H probably damaging Het
Pcdha9 T C 18: 37,131,551 (GRCm39) F207L probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Pigg A T 5: 108,489,788 (GRCm39) M798L probably benign Het
Poc5 G T 13: 96,533,179 (GRCm39) M102I probably damaging Het
Ppp2r3d T A 9: 101,088,835 (GRCm39) Q496L probably benign Het
Ptprf A G 4: 118,068,281 (GRCm39) Y1752H probably damaging Het
Rnf213 A G 11: 119,307,385 (GRCm39) K682E probably benign Het
Rtp3 T C 9: 110,816,041 (GRCm39) D170G probably benign Het
Sall4 T C 2: 168,597,406 (GRCm39) D478G possibly damaging Het
Scai A T 2: 38,973,566 (GRCm39) Y58* probably null Het
Simc1 G A 13: 54,676,303 (GRCm39) V1007M probably benign Het
Tcf20 G T 15: 82,737,409 (GRCm39) D1347E probably benign Het
Tdo2 T C 3: 81,870,035 (GRCm39) Y279C probably damaging Het
Trdn C T 10: 33,340,571 (GRCm39) P602S probably benign Het
Txndc5 A T 13: 38,707,392 (GRCm39) M1K probably null Het
Ubr2 A C 17: 47,293,218 (GRCm39) M356R possibly damaging Het
Uqcrc2 A T 7: 120,253,232 (GRCm39) D332V probably damaging Het
Usp48 T C 4: 137,333,129 (GRCm39) F108L probably damaging Het
Vill A G 9: 118,886,867 (GRCm39) N4S probably benign Het
Vmn1r11 T C 6: 57,114,645 (GRCm39) V103A possibly damaging Het
Vmn2r98 A G 17: 19,286,336 (GRCm39) D278G probably benign Het
Vps35l T G 7: 118,345,658 (GRCm39) S59A possibly damaging Het
Wfdc15a A T 2: 164,041,586 (GRCm39) L79* probably null Het
Xxylt1 C T 16: 30,899,799 (GRCm39) V119M probably damaging Het
Zfp26 G T 9: 20,348,989 (GRCm39) A525D probably damaging Het
Zgrf1 G A 3: 127,389,642 (GRCm39) G396D probably damaging Het
Zkscan16 A G 4: 58,948,889 (GRCm39) D148G possibly damaging Het
Zscan26 G T 13: 21,632,499 (GRCm39) S77R 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
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
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'- ATAGATTAGGAAAGCCGGGCTC -3'
(R):5'- TGATTCTTAGACACCAATGCGTTG -3'

Sequencing Primer
(F):5'- CTCTGGGAGGGAGTGTGACAG -3'
(R):5'- ACACCAATGCGTTGTCTGAG -3'
Posted On 2017-08-16