Incidental Mutation 'R9069:Ptpru'
ID 689420
Institutional Source Beutler Lab
Gene Symbol Ptpru
Ensembl Gene ENSMUSG00000028909
Gene Name protein tyrosine phosphatase receptor type U
Synonyms RPTPlambda, Ptprl
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9069 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 131495768-131565599 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131503565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1155 (I1155N)
Ref Sequence ENSEMBL: ENSMUSP00000101607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000105987]
AlphaFold B1AUH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030741
AA Change: I1165N

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: I1165N

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: I1155N

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: I1155N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (78/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,818,523 (GRCm39) C103S probably damaging Het
Adamts20 T C 15: 94,236,349 (GRCm39) S841G probably benign Het
Add3 T A 19: 53,222,332 (GRCm39) V313E possibly damaging Het
Ahr G T 12: 35,562,771 (GRCm39) probably benign Het
Ankrd12 T A 17: 66,356,874 (GRCm39) M48L probably benign Het
Apaf1 A C 10: 90,859,580 (GRCm39) probably null Het
Bank1 T C 3: 135,989,772 (GRCm39) H106R probably benign Het
Birc6 A G 17: 74,868,260 (GRCm39) probably benign Het
Castor1 A G 11: 4,170,141 (GRCm39) E73G probably benign Het
Ccdc170 C T 10: 4,511,016 (GRCm39) H692Y possibly damaging Het
Cd93 A G 2: 148,284,071 (GRCm39) I425T probably benign Het
Celsr1 A C 15: 85,914,772 (GRCm39) L1067R possibly damaging Het
Clca3a2 A T 3: 144,519,447 (GRCm39) probably benign Het
Col14a1 T C 15: 55,251,990 (GRCm39) S549P unknown Het
Col6a4 A G 9: 105,952,138 (GRCm39) S587P possibly damaging Het
Crebbp C A 16: 3,903,187 (GRCm39) M2017I probably benign Het
Crybg1 A C 10: 43,874,103 (GRCm39) F1002V probably benign Het
Ctif T C 18: 75,654,458 (GRCm39) E356G probably damaging Het
Dbx2 T C 15: 95,530,239 (GRCm39) K243E probably damaging Het
Dgkh C T 14: 78,853,957 (GRCm39) V394I probably damaging Het
Dnaja4 T A 9: 54,621,638 (GRCm39) M321K probably benign Het
Dock9 T C 14: 121,866,324 (GRCm39) N593S probably damaging Het
Dot1l T A 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Eea1 A T 10: 95,831,510 (GRCm39) L200F probably damaging Het
Elp2 T G 18: 24,765,833 (GRCm39) F658V probably benign Het
Fbxw15 G A 9: 109,394,468 (GRCm39) Q116* probably null Het
Fstl5 A T 3: 76,615,416 (GRCm39) N826Y probably damaging Het
Galp T C 7: 6,214,347 (GRCm39) S60P possibly damaging Het
Gm7298 G T 6: 121,761,393 (GRCm39) M1316I probably benign Het
Gsdmc T C 15: 63,649,902 (GRCm39) M330V probably benign Het
Hectd2 T C 19: 36,562,862 (GRCm39) F175L probably benign Het
Hmbs A G 9: 44,248,102 (GRCm39) I318T possibly damaging Het
Ifi205 T C 1: 173,855,841 (GRCm39) D63G probably benign Het
Il10ra T A 9: 45,167,396 (GRCm39) Q387L probably damaging Het
Kcnj14 C A 7: 45,469,388 (GRCm39) G39V probably benign Het
Kpna1 T C 16: 35,836,381 (GRCm39) probably benign Het
Lrp2 A T 2: 69,331,996 (GRCm39) D1586E probably damaging Het
Lrrc45 A G 11: 120,607,947 (GRCm39) I243V probably benign Het
Lrrc7 T C 3: 157,946,138 (GRCm39) K187R probably benign Het
Mamdc4 G T 2: 25,453,371 (GRCm39) T1216N probably damaging Het
Map1a A C 2: 121,134,145 (GRCm39) K1654Q probably benign Het
Mta2 G A 19: 8,924,104 (GRCm39) V195M probably damaging Het
Nav2 G T 7: 49,208,561 (GRCm39) R1583L probably damaging Het
Or2y1g A T 11: 49,171,247 (GRCm39) T91S probably benign Het
Or4c112 A T 2: 88,854,308 (GRCm39) L13Q probably damaging Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
Osbpl1a T A 18: 13,002,074 (GRCm39) probably benign Het
Pcdh17 T C 14: 84,685,084 (GRCm39) V517A possibly damaging Het
Pcdhb14 T A 18: 37,583,157 (GRCm39) C754* probably null Het
Pkd1 T C 17: 24,791,988 (GRCm39) V1225A probably damaging Het
Plekhm3 T C 1: 64,960,802 (GRCm39) N485D probably benign Het
Plekho1 A C 3: 95,902,995 (GRCm39) S14A unknown Het
Ppp2r3d A T 9: 101,090,006 (GRCm39) C106S probably benign Het
Ppp6c A C 2: 39,094,928 (GRCm39) L99R probably damaging Het
Pramel27 A G 4: 143,578,345 (GRCm39) S202G probably benign Het
Prkdc T A 16: 15,653,091 (GRCm39) Y3855* probably null Het
Reln C T 5: 22,216,059 (GRCm39) G1042D probably damaging Het
Sall4 A G 2: 168,596,773 (GRCm39) V689A probably benign Het
Sec31b C T 19: 44,507,741 (GRCm39) G768S probably damaging Het
Serpinb10 T A 1: 107,474,549 (GRCm39) V237D probably benign Het
Serpinb9 T G 13: 33,199,579 (GRCm39) D291E probably benign Het
Slc12a7 T G 13: 73,954,089 (GRCm39) probably benign Het
Slfn8 A T 11: 82,907,902 (GRCm39) F214I probably damaging Het
Slu7 A T 11: 43,328,952 (GRCm39) D58V probably damaging Het
Smu1 T C 4: 40,745,558 (GRCm39) Y254C probably damaging Het
Snapc4 A T 2: 26,260,805 (GRCm39) Y479* probably null Het
Specc1l A G 10: 75,066,640 (GRCm39) N30D probably benign Het
Spopfm1 A C 3: 94,173,153 (GRCm39) S50R possibly damaging Het
Tbck T C 3: 132,428,130 (GRCm39) probably null Het
Tcf7l1 T C 6: 72,610,259 (GRCm39) Y246C probably damaging Het
Tmem43 C T 6: 91,463,897 (GRCm39) R391W possibly damaging Het
Trav7-1 T G 14: 52,892,566 (GRCm39) S40A possibly damaging Het
Trim45 T A 3: 100,832,440 (GRCm39) Y224* probably null Het
Trio A T 15: 27,852,097 (GRCm39) I798N possibly damaging Het
Trnau1ap A T 4: 132,056,662 (GRCm39) probably null Het
Vmn1r213 T C 13: 23,196,043 (GRCm39) S209P probably damaging Het
Ythdf1 G T 2: 180,552,857 (GRCm39) R453S 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
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
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'- TATATATGCTCACAGCCCACTC -3'
(R):5'- ATGGTTGAACTCAGCCTGGTC -3'

Sequencing Primer
(F):5'- TATATGCTCACAGCCCACTCATATAC -3'
(R):5'- GAACTCAGCCTGGTCTTCTTTG -3'
Posted On 2021-11-19