Incidental Mutation 'R4998:Ptpru'
ID 389625
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission 042592-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4998 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131504196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1097 (V1097A)
Ref Sequence ENSEMBL: ENSMUSP00000030741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect probably damaging
Transcript: ENSMUST00000030741
AA Change: V1097A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: V1097A

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: ENSMUST00000105987
AA Change: V1087A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: V1087A

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
Meta Mutation Damage Score 0.1435 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (91/94)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T C 7: 27,271,088 (GRCm39) V135A probably damaging Het
Ankrd42 T C 7: 92,273,282 (GRCm39) N115S possibly damaging Het
Baz1a T C 12: 55,021,922 (GRCm39) E120G probably damaging Het
Calcrl A T 2: 84,169,658 (GRCm39) V341E probably damaging Het
Card6 T C 15: 5,129,564 (GRCm39) R611G probably benign Het
Cd70 A T 17: 57,453,311 (GRCm39) S118T probably damaging Het
Chil5 T A 3: 105,927,248 (GRCm39) I188F probably damaging Het
Clca4b C T 3: 144,621,269 (GRCm39) V602I probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Col6a4 A G 9: 105,867,977 (GRCm39) probably benign Het
Cox8b T C 7: 140,479,001 (GRCm39) E38G probably damaging Het
Cx3cl1 C G 8: 95,507,053 (GRCm39) L353V probably damaging Het
Cyp2a4 G T 7: 26,006,786 (GRCm39) Q48H probably damaging Het
Defb8 T C 8: 19,497,603 (GRCm39) I3V probably benign Het
Dip2a A T 10: 76,155,390 (GRCm39) L65* probably null Het
Dnaaf4 A G 9: 72,867,960 (GRCm39) T74A possibly damaging Het
Dsg2 A T 18: 20,734,578 (GRCm39) D852V probably benign Het
Edar T C 10: 58,441,915 (GRCm39) R326G probably damaging Het
Egfr A G 11: 16,831,493 (GRCm39) E554G possibly damaging Het
Eif2b3 A C 4: 116,923,589 (GRCm39) K268T probably benign Het
Enox1 A T 14: 77,738,875 (GRCm39) probably benign Het
Enpp3 C A 10: 24,683,436 (GRCm39) M260I probably benign Het
Espn A T 4: 152,220,040 (GRCm39) M361K possibly damaging Het
Fam107a T C 14: 8,299,514 (GRCm38) N108S possibly damaging Het
Fbn2 A T 18: 58,205,703 (GRCm39) V1125D probably damaging Het
Fbxo30 T A 10: 11,166,507 (GRCm39) S410T probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fcsk G A 8: 111,614,435 (GRCm39) A618V probably damaging Het
Gm10715 T G 9: 3,038,073 (GRCm39) probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm17416 C A 2: 152,411,427 (GRCm39) P57Q probably damaging Het
Gm27013 A T 6: 130,653,501 (GRCm39) C654S probably damaging Het
Gon4l G T 3: 88,807,305 (GRCm39) E1666D probably damaging Het
Gypa T A 8: 81,222,964 (GRCm39) S23T unknown Het
Gys1 C A 7: 45,100,968 (GRCm39) probably benign Het
Hdac10 T A 15: 89,008,143 (GRCm39) Q569L possibly damaging Het
Icos A G 1: 61,032,941 (GRCm39) T47A possibly damaging Het
Igfn1 T A 1: 135,882,404 (GRCm39) I2814F probably damaging Het
Kif27 A G 13: 58,440,957 (GRCm39) S1153P probably damaging Het
Lin28a A C 4: 133,746,028 (GRCm39) F9V possibly damaging Het
Lrriq3 T A 3: 154,893,695 (GRCm39) N465K probably benign Het
Lsm14a T C 7: 34,074,799 (GRCm39) E47G probably damaging Het
Mmel1 A G 4: 154,969,967 (GRCm39) K177R probably benign Het
Ncstn T A 1: 171,899,087 (GRCm39) N348I possibly damaging Het
Ninl A G 2: 150,795,284 (GRCm39) I619T probably damaging Het
Npb T C 11: 120,499,401 (GRCm39) Y23H probably damaging Het
Npepps A G 11: 97,096,933 (GRCm39) probably benign Het
Or8k30 T C 2: 86,339,699 (GRCm39) Y299H probably benign Het
Otop1 G A 5: 38,451,892 (GRCm39) probably null Het
Pcdha1 T C 18: 37,065,469 (GRCm39) L711P probably damaging Het
Pcyt1a A G 16: 32,270,660 (GRCm39) probably benign Het
Pdpr G T 8: 111,841,400 (GRCm39) V211F probably damaging Het
Pip4k2b T C 11: 97,613,261 (GRCm39) N245S possibly damaging Het
Platr26 G A 2: 71,561,214 (GRCm39) noncoding transcript Het
Plek A G 11: 16,933,194 (GRCm39) probably null Het
Potefam3c G C 8: 69,906,010 (GRCm39) N13K probably benign Het
Prdm15 A T 16: 97,595,689 (GRCm39) D1046E probably damaging Het
Prr29 T G 11: 106,267,779 (GRCm39) C175G probably benign Het
Ramp2 T A 11: 101,138,247 (GRCm39) probably benign Het
Rap1gap A G 4: 137,455,595 (GRCm39) D381G possibly damaging Het
Rbbp6 T A 7: 122,589,549 (GRCm39) D412E probably benign Het
Rgs4 C T 1: 169,572,802 (GRCm39) V45I probably benign Het
Ryr2 C T 13: 11,658,781 (GRCm39) R3614Q probably damaging Het
Shc3 G A 13: 51,596,856 (GRCm39) probably null Het
Shmt2 A T 10: 127,354,139 (GRCm39) C412S probably damaging Het
Slc25a45 A T 19: 5,934,945 (GRCm39) N265Y probably damaging Het
Slc4a10 G C 2: 62,074,783 (GRCm39) E316Q probably benign Het
Slc5a8 T C 10: 88,743,919 (GRCm39) probably null Het
Snx31 A G 15: 36,539,513 (GRCm39) V121A probably damaging Het
Socs3 T C 11: 117,858,542 (GRCm39) E172G probably damaging Het
Tg A G 15: 66,545,899 (GRCm39) D207G probably damaging Het
Them4 G T 3: 94,237,088 (GRCm39) V183F probably damaging Het
Tkt G A 14: 30,287,499 (GRCm39) W136* probably null Het
Tlcd3b C T 7: 126,426,795 (GRCm39) R73C probably damaging Het
Tmc3 C A 7: 83,271,529 (GRCm39) R894S probably benign Het
Tmem132a G T 19: 10,836,305 (GRCm39) P742T probably benign Het
Tmem202 A G 9: 59,432,129 (GRCm39) L66P probably damaging Het
Trbc1 G A 6: 41,516,270 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,511 (GRCm39) F158L probably benign Het
Ttc13 A T 8: 125,406,795 (GRCm39) N595K probably damaging Het
Ucp1 A G 8: 84,024,484 (GRCm39) probably null Het
Zbtb4 C T 11: 69,669,497 (GRCm39) T740I probably benign Het
Zfp69 A T 4: 120,804,522 (GRCm39) D116E possibly damaging Het
Zfp879 A G 11: 50,728,796 (GRCm39) L66S probably damaging Het
Zfp955b T A 17: 33,524,125 (GRCm39) probably benign Het
Zfyve1 T C 12: 83,594,839 (GRCm39) I718V 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
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
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'- CTCTGGGCTCCATGACAAAG -3'
(R):5'- GCTCCCTTGAGGAAGTCACTTC -3'

Sequencing Primer
(F):5'- GGCTCCATGACAAAGACCTAAATGG -3'
(R):5'- TTGAGGAAGTCACTTCTATGTCC -3'
Posted On 2016-06-06