Incidental Mutation 'R0017:Ptpro'
ID 19346
Institutional Source Beutler Lab
Gene Symbol Ptpro
Ensembl Gene ENSMUSG00000030223
Gene Name protein tyrosine phosphatase, receptor type, O
Synonyms Ptpn15, PTP-oc, GLEPP1, PTP-U2, PTP-BK, PTP-phi, D28, PTPROt
MMRRC Submission 038312-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0017 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 6
Chromosomal Location 137252319-137463233 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137416827 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 831 (V831A)
Ref Sequence ENSEMBL: ENSMUSP00000127112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077115] [ENSMUST00000167002] [ENSMUST00000167679] [ENSMUST00000203914]
AlphaFold E9Q612
Predicted Effect probably benign
Transcript: ENSMUST00000077115
AA Change: V831A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: V831A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 269 291 N/A INTRINSIC
FN3 443 528 1.07e-1 SMART
FN3 540 626 7.07e-2 SMART
FN3 642 722 4.47e1 SMART
FN3 733 812 5.92e-4 SMART
transmembrane domain 831 853 N/A INTRINSIC
transmembrane domain 890 912 N/A INTRINSIC
PTPc 947 1207 1.43e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167002
AA Change: V10A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000131764
Gene: ENSMUSG00000030223
AA Change: V10A

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
PTPc 126 386 1.43e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167679
AA Change: V831A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: V831A

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 269 291 N/A INTRINSIC
FN3 443 528 1.07e-1 SMART
FN3 540 626 7.07e-2 SMART
FN3 642 722 4.47e1 SMART
FN3 733 812 5.92e-4 SMART
transmembrane domain 831 853 N/A INTRINSIC
PTPc 919 1179 1.43e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203914
AA Change: V10A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144870
Gene: ENSMUSG00000030223
AA Change: V10A

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
PTPc 98 358 6.1e-130 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204780
Meta Mutation Damage Score 0.0785 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.0%
  • 20x: 89.2%
Validation Efficiency 96% (76/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for one allele display impaired glomerular filtration due to podocyte structural anomalies and a predisposition for hypertension. Mice homozygous for a second allele exhibit susceptibility to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,008,106 (GRCm38) probably benign Het
Abca13 T A 11: 9,292,775 (GRCm38) I1546N probably damaging Het
Actrt3 A T 3: 30,598,273 (GRCm38) M224K probably benign Het
Adgrv1 T C 13: 81,578,946 (GRCm38) N429S probably benign Het
Appbp2 A C 11: 85,214,303 (GRCm38) C146G possibly damaging Het
Cabp2 A C 19: 4,086,242 (GRCm38) D83A possibly damaging Het
Ccl1 A G 11: 82,178,017 (GRCm38) probably null Het
Cdca8 T C 4: 124,920,375 (GRCm38) T208A probably benign Het
Dach1 C T 14: 98,168,748 (GRCm38) G188R probably damaging Het
Dcdc5 G A 2: 106,357,196 (GRCm38) noncoding transcript Het
Efr3b C A 12: 3,993,003 (GRCm38) C89F probably damaging Het
Enpp3 C T 10: 24,799,153 (GRCm38) probably null Het
Ep400 A T 5: 110,673,529 (GRCm38) V2467E probably damaging Het
Ermap T C 4: 119,179,948 (GRCm38) probably benign Het
Fig4 A G 10: 41,273,007 (GRCm38) Y150H possibly damaging Het
Fsip2 G A 2: 82,992,072 (GRCm38) V6050M probably damaging Het
Gm11397 A C 13: 33,404,511 (GRCm38) I360L probably damaging Het
Gnb1l T C 16: 18,541,060 (GRCm38) W72R probably damaging Het
Gpld1 A G 13: 24,990,118 (GRCm38) D842G probably damaging Het
Hmgcr A G 13: 96,652,089 (GRCm38) probably benign Het
Hrc A G 7: 45,336,370 (GRCm38) H315R possibly damaging Het
Ifit2 A T 19: 34,573,573 (GRCm38) N171I probably damaging Het
Ipo11 T A 13: 106,886,730 (GRCm38) I416L probably benign Het
Kcnab1 G A 3: 65,357,106 (GRCm38) V259M probably damaging Het
Kcng4 T C 8: 119,633,520 (GRCm38) Y39C probably damaging Het
Kif5c A G 2: 49,732,713 (GRCm38) T526A probably benign Het
Kntc1 A G 5: 123,780,981 (GRCm38) Y805C probably damaging Het
Mal A G 2: 127,640,307 (GRCm38) S59P probably damaging Het
Myh15 A G 16: 49,163,060 (GRCm38) N1513D probably damaging Het
Ncoa2 A G 1: 13,174,752 (GRCm38) L574P probably damaging Het
Nmd3 A G 3: 69,736,092 (GRCm38) probably null Het
Nucb2 A G 7: 116,533,151 (GRCm38) D331G probably benign Het
Nwd1 T C 8: 72,709,425 (GRCm38) probably benign Het
Nynrin T C 14: 55,872,395 (GRCm38) F1653S probably damaging Het
Olfr1253 A C 2: 89,752,021 (GRCm38) I269S possibly damaging Het
Olfr371 T A 8: 85,231,077 (GRCm38) I194N probably benign Het
Olfr875 T G 9: 37,772,978 (GRCm38) F106L probably benign Het
Pfdn6 T C 17: 33,939,564 (GRCm38) R79G probably damaging Het
Pkd1 G T 17: 24,578,539 (GRCm38) probably null Het
Pramel4 T G 4: 144,068,344 (GRCm38) C434G probably benign Het
Ptpn13 T C 5: 103,486,772 (GRCm38) probably null Het
Rabl6 A T 2: 25,602,567 (GRCm38) probably benign Het
Reg3b T A 6: 78,372,861 (GRCm38) M128K possibly damaging Het
Rif1 A G 2: 52,116,674 (GRCm38) T2207A probably benign Het
Rpa1 A C 11: 75,314,861 (GRCm38) N223K probably null Het
Rras2 T C 7: 114,048,255 (GRCm38) probably benign Het
Ryr1 T A 7: 29,047,542 (GRCm38) E3760V probably damaging Het
Scyl3 T A 1: 163,939,969 (GRCm38) I204N possibly damaging Het
Slc16a12 A G 19: 34,672,698 (GRCm38) probably benign Het
Slc22a1 A G 17: 12,659,759 (GRCm38) F356L probably damaging Het
Slc22a29 A G 19: 8,218,266 (GRCm38) probably benign Het
Slc45a1 C A 4: 150,629,566 (GRCm38) D741Y possibly damaging Het
Slco1a5 A T 6: 142,236,335 (GRCm38) probably benign Het
Smg5 G T 3: 88,351,105 (GRCm38) R461L probably damaging Het
Snrk T C 9: 122,166,240 (GRCm38) S362P probably damaging Het
Spata31d1b A G 13: 59,716,069 (GRCm38) S344G probably benign Het
Sync G A 4: 129,293,744 (GRCm38) V190M probably damaging Het
Taf5l T C 8: 124,003,644 (GRCm38) Y67C probably damaging Het
Tbkbp1 A G 11: 97,146,289 (GRCm38) probably benign Het
Tshr A T 12: 91,537,886 (GRCm38) I533F possibly damaging Het
Tsn T C 1: 118,300,859 (GRCm38) D211G probably damaging Het
Ttn G A 2: 76,791,644 (GRCm38) T15518I probably benign Het
Unc13c T C 9: 73,693,301 (GRCm38) D1387G probably benign Het
Vapb A G 2: 173,771,604 (GRCm38) T99A probably benign Het
Vmn2r-ps119 A G 17: 19,153,617 (GRCm38) noncoding transcript Het
Zfp280d A T 9: 72,339,010 (GRCm38) probably null Het
Other mutations in Ptpro
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Ptpro APN 6 137,394,909 (GRCm38) critical splice donor site probably null
IGL00844:Ptpro APN 6 137,414,239 (GRCm38) missense probably damaging 1.00
IGL00983:Ptpro APN 6 137,418,248 (GRCm38) missense probably benign 0.01
IGL01073:Ptpro APN 6 137,377,088 (GRCm38) missense probably damaging 1.00
IGL01832:Ptpro APN 6 137,393,668 (GRCm38) missense possibly damaging 0.93
IGL02308:Ptpro APN 6 137,454,700 (GRCm38) missense probably benign 0.37
IGL02387:Ptpro APN 6 137,410,980 (GRCm38) missense probably damaging 0.96
IGL02605:Ptpro APN 6 137,380,318 (GRCm38) missense probably benign 0.02
IGL02666:Ptpro APN 6 137,378,059 (GRCm38) missense probably damaging 0.96
IGL03275:Ptpro APN 6 137,450,006 (GRCm38) missense probably damaging 1.00
Brau UTSW 6 137,454,598 (GRCm38) missense probably damaging 1.00
court UTSW 6 137,393,675 (GRCm38) nonsense probably null
Hoff UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
Jester UTSW 6 137,449,917 (GRCm38) missense probably damaging 1.00
mann UTSW 6 137,411,116 (GRCm38) splice site probably null
R0017:Ptpro UTSW 6 137,416,827 (GRCm38) missense probably benign 0.03
R0020:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0022:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0023:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0024:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0094:Ptpro UTSW 6 137,386,352 (GRCm38) missense probably benign 0.08
R0094:Ptpro UTSW 6 137,386,352 (GRCm38) missense probably benign 0.08
R0103:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0106:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0316:Ptpro UTSW 6 137,376,989 (GRCm38) missense possibly damaging 0.81
R0427:Ptpro UTSW 6 137,368,296 (GRCm38) missense possibly damaging 0.81
R0456:Ptpro UTSW 6 137,414,230 (GRCm38) missense probably benign 0.04
R0536:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0537:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0552:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0555:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0664:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0708:Ptpro UTSW 6 137,386,253 (GRCm38) missense probably benign 0.26
R0730:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0735:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0738:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0786:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0811:Ptpro UTSW 6 137,368,079 (GRCm38) missense probably benign 0.00
R0812:Ptpro UTSW 6 137,368,079 (GRCm38) missense probably benign 0.00
R0881:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R0973:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1145:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1145:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1146:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1146:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1147:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1147:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1259:Ptpro UTSW 6 137,392,741 (GRCm38) missense probably damaging 0.98
R1340:Ptpro UTSW 6 137,441,081 (GRCm38) missense possibly damaging 0.95
R1381:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1382:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1385:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1396:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1401:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1416:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1422:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1448:Ptpro UTSW 6 137,441,116 (GRCm38) missense probably damaging 1.00
R1513:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1518:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1526:Ptpro UTSW 6 137,461,726 (GRCm38) missense probably damaging 1.00
R1540:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1571:Ptpro UTSW 6 137,378,130 (GRCm38) missense probably benign
R1573:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1587:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1588:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1649:Ptpro UTSW 6 137,444,017 (GRCm38) nonsense probably null
R1700:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1701:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1745:Ptpro UTSW 6 137,400,645 (GRCm38) missense probably benign 0.03
R1772:Ptpro UTSW 6 137,430,743 (GRCm38) missense probably damaging 1.00
R1911:Ptpro UTSW 6 137,400,619 (GRCm38) splice site probably benign
R1958:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R1967:Ptpro UTSW 6 137,416,865 (GRCm38) missense probably benign 0.38
R2025:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R2026:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R2040:Ptpro UTSW 6 137,386,164 (GRCm38) splice site probably benign
R2115:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R2117:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R2130:Ptpro UTSW 6 137,411,116 (GRCm38) splice site probably null
R2161:Ptpro UTSW 6 137,449,887 (GRCm38) missense probably benign 0.01
R2431:Ptpro UTSW 6 137,443,585 (GRCm38) nonsense probably null
R2915:Ptpro UTSW 6 137,414,241 (GRCm38) start gained probably benign
R2988:Ptpro UTSW 6 137,443,599 (GRCm38) nonsense probably null
R3772:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R3773:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R3795:Ptpro UTSW 6 137,380,309 (GRCm38) missense probably benign
R3885:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R3886:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R3887:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R3888:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R3893:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R4032:Ptpro UTSW 6 137,461,742 (GRCm38) missense probably damaging 1.00
R4133:Ptpro UTSW 6 137,420,372 (GRCm38) missense probably damaging 1.00
R4377:Ptpro UTSW 6 137,380,266 (GRCm38) missense probably benign 0.26
R4455:Ptpro UTSW 6 137,393,659 (GRCm38) missense probably damaging 1.00
R4613:Ptpro UTSW 6 137,416,836 (GRCm38) nonsense probably null
R4827:Ptpro UTSW 6 137,442,710 (GRCm38) missense probably damaging 1.00
R4863:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R4870:Ptpro UTSW 6 137,377,132 (GRCm38) missense probably damaging 0.96
R4910:Ptpro UTSW 6 137,368,338 (GRCm38) missense probably damaging 0.99
R4932:Ptpro UTSW 6 137,411,105 (GRCm38) nonsense probably null
R4941:Ptpro UTSW 6 137,392,765 (GRCm38) missense probably damaging 1.00
R4989:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R5009:Ptpro UTSW 6 137,377,132 (GRCm38) missense probably damaging 0.96
R5032:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R5033:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R5162:Ptpro UTSW 6 137,443,594 (GRCm38) missense probably damaging 1.00
R5393:Ptpro UTSW 6 137,380,224 (GRCm38) missense probably benign 0.04
R5423:Ptpro UTSW 6 137,442,707 (GRCm38) missense probably damaging 1.00
R5782:Ptpro UTSW 6 137,399,498 (GRCm38) missense possibly damaging 0.80
R6103:Ptpro UTSW 6 137,400,706 (GRCm38) missense possibly damaging 0.76
R6239:Ptpro UTSW 6 137,380,608 (GRCm38) missense probably benign 0.28
R6488:Ptpro UTSW 6 137,393,675 (GRCm38) nonsense probably null
R6494:Ptpro UTSW 6 137,382,642 (GRCm38) missense probably benign 0.20
R6746:Ptpro UTSW 6 137,394,823 (GRCm38) missense probably damaging 1.00
R6763:Ptpro UTSW 6 137,418,281 (GRCm38) splice site probably null
R6888:Ptpro UTSW 6 137,380,200 (GRCm38) missense probably benign 0.30
R6983:Ptpro UTSW 6 137,449,917 (GRCm38) missense probably damaging 1.00
R7019:Ptpro UTSW 6 137,380,478 (GRCm38) missense probably benign
R7218:Ptpro UTSW 6 137,454,598 (GRCm38) missense probably damaging 1.00
R7236:Ptpro UTSW 6 137,368,337 (GRCm38) missense probably damaging 1.00
R7299:Ptpro UTSW 6 137,441,144 (GRCm38) critical splice donor site probably null
R7381:Ptpro UTSW 6 137,399,561 (GRCm38) missense possibly damaging 0.93
R7493:Ptpro UTSW 6 137,382,649 (GRCm38) missense probably benign 0.01
R7733:Ptpro UTSW 6 137,414,286 (GRCm38) nonsense probably null
R7793:Ptpro UTSW 6 137,416,820 (GRCm38) missense probably damaging 0.99
R7804:Ptpro UTSW 6 137,399,601 (GRCm38) splice site probably null
R7833:Ptpro UTSW 6 137,416,863 (GRCm38) nonsense probably null
R7859:Ptpro UTSW 6 137,392,807 (GRCm38) critical splice donor site probably null
R7873:Ptpro UTSW 6 137,430,739 (GRCm38) missense probably benign 0.44
R8042:Ptpro UTSW 6 137,416,883 (GRCm38) missense possibly damaging 0.71
R8859:Ptpro UTSW 6 137,426,784 (GRCm38) nonsense probably null
R8979:Ptpro UTSW 6 137,368,142 (GRCm38) missense probably benign
R9138:Ptpro UTSW 6 137,411,115 (GRCm38) critical splice donor site probably null
R9309:Ptpro UTSW 6 137,454,658 (GRCm38) missense probably damaging 1.00
R9420:Ptpro UTSW 6 137,443,935 (GRCm38) missense probably benign 0.08
R9612:Ptpro UTSW 6 137,414,320 (GRCm38) missense probably benign 0.31
R9625:Ptpro UTSW 6 137,394,875 (GRCm38) missense probably damaging 1.00
R9697:Ptpro UTSW 6 137,386,290 (GRCm38) missense probably damaging 1.00
R9715:Ptpro UTSW 6 137,368,110 (GRCm38) missense probably damaging 0.96
Z1177:Ptpro UTSW 6 137,378,140 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCAATGGTTCCCTTAGACAAGTG -3'
(R):5'- GCCAAACGGGCATCAATGTCTTCAG -3'

Sequencing Primer
(F):5'- CCCTTAGACAAGTGTGGGTG -3'
(R):5'- ttccatcatcacatcatcatcatc -3'
Posted On 2013-04-11