Incidental Mutation 'R8979:Ptpro'
ID 683630
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 068812-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8979 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 137252319-137463233 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137368142 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 49 (I49V)
Ref Sequence ENSEMBL: ENSMUSP00000076364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077115] [ENSMUST00000167679]
AlphaFold E9Q612
Predicted Effect probably benign
Transcript: ENSMUST00000077115
AA Change: I49V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: I49V

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: ENSMUST00000167679
AA Change: I49V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: I49V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 60,025,124 (GRCm38) R353S probably damaging Het
Ablim3 C T 18: 61,849,326 (GRCm38) V183I probably benign Het
Adgrb3 T A 1: 25,488,034 (GRCm38) Q607L probably benign Het
Adgrl1 A G 8: 83,938,386 (GRCm38) D1234G probably benign Het
Alms1 A G 6: 85,621,027 (GRCm38) Y945C probably damaging Het
Arhgef26 T A 3: 62,339,548 (GRCm38) W18R possibly damaging Het
Caskin1 G T 17: 24,498,925 (GRCm38) A229S possibly damaging Het
Celsr1 A T 15: 85,963,139 (GRCm38) S1466T probably damaging Het
Cftr T C 6: 18,227,948 (GRCm38) Y380H probably benign Het
Ciapin1 A T 8: 94,823,125 (GRCm38) L301Q probably damaging Het
Clec1b A G 6: 129,403,574 (GRCm38) E151G probably benign Het
Cngb1 G A 8: 95,278,285 (GRCm38) probably benign Het
Cntln T A 4: 85,130,673 (GRCm38) V240E probably damaging Het
Cog5 A G 12: 31,790,895 (GRCm38) T240A probably benign Het
Col5a3 G A 9: 20,775,301 (GRCm38) P1343S unknown Het
Cspp1 T A 1: 10,064,405 (GRCm38) S127T probably benign Het
Dnah9 T G 11: 66,005,152 (GRCm38) M2466L probably benign Het
Fbn2 C T 18: 58,153,856 (GRCm38) G244R probably damaging Het
Fbxw13 A T 9: 109,184,129 (GRCm38) W247R probably damaging Het
Gbp4 G A 5: 105,119,382 (GRCm38) T557M probably benign Het
Gm13762 C T 2: 88,973,829 (GRCm38) V21I probably benign Het
Ide G A 19: 37,325,312 (GRCm38) A133V Het
Il2rb C A 15: 78,491,852 (GRCm38) probably benign Het
Itgb1 A G 8: 128,722,470 (GRCm38) E519G probably benign Het
Kifc1 A G 17: 33,883,254 (GRCm38) Y462H possibly damaging Het
Krt1 A G 15: 101,846,905 (GRCm38) F473S probably benign Het
Llgl1 C T 11: 60,710,303 (GRCm38) A689V probably benign Het
Lrrc37a C A 11: 103,503,007 (GRCm38) V531L possibly damaging Het
Mid1 C G X: 169,985,007 (GRCm38) P384A probably benign Het
Mid1 G A X: 169,985,013 (GRCm38) A386T probably benign Het
Mms22l C T 4: 24,580,070 (GRCm38) L760F probably benign Het
Mplkipl1 A G 19: 61,175,731 (GRCm38) Y89H probably damaging Het
Mst1r C T 9: 107,915,279 (GRCm38) R951C probably damaging Het
Naalad2 G A 9: 18,330,850 (GRCm38) T586M probably damaging Het
Oxct2b A G 4: 123,117,376 (GRCm38) N363S probably benign Het
Padi6 T G 4: 140,739,163 (GRCm38) N145T probably benign Het
Plcl2 T A 17: 50,640,117 (GRCm38) M1008K possibly damaging Het
Plekha5 T C 6: 140,551,092 (GRCm38) S435P probably damaging Het
Prkacb C A 3: 146,812,656 (GRCm38) G10C probably benign Het
Psg29 A T 7: 17,203,619 (GRCm38) probably benign Het
Ptpn4 T C 1: 119,743,390 (GRCm38) T213A probably damaging Het
Rassf1 A G 9: 107,551,805 (GRCm38) D70G probably benign Het
Rbm24 A T 13: 46,419,055 (GRCm38) T9S probably damaging Het
Rp1 T C 1: 4,148,714 (GRCm38) T948A unknown Het
Ryr2 A T 13: 11,595,038 (GRCm38) C4301S probably benign Het
S100pbp T C 4: 129,182,340 (GRCm38) D64G probably damaging Het
Samd3 A G 10: 26,244,530 (GRCm38) K141E possibly damaging Het
Scgb1b29 A T 7: 32,441,852 (GRCm38) K65* probably null Het
Shoc1 T C 4: 59,047,276 (GRCm38) T1448A possibly damaging Het
Slc51b T C 9: 65,412,928 (GRCm38) N86D probably benign Het
Slc6a3 G A 13: 73,567,601 (GRCm38) V452I probably benign Het
Sobp A G 10: 43,020,980 (GRCm38) probably null Het
Spats2 T C 15: 99,212,242 (GRCm38) S507P possibly damaging Het
Spns3 C T 11: 72,529,590 (GRCm38) A357T probably damaging Het
Suox A T 10: 128,671,498 (GRCm38) H220Q probably damaging Het
Tbc1d9b A T 11: 50,170,982 (GRCm38) S1106C probably benign Het
Tbx1 T C 16: 18,587,995 (GRCm38) D9G unknown Het
Tcaf2 A T 6: 42,624,470 (GRCm38) F885Y probably damaging Het
Tgoln1 T C 6: 72,616,279 (GRCm38) T73A probably benign Het
Tigd3 G A 19: 5,891,825 (GRCm38) P426S probably benign Het
Tmem233 T A 5: 116,083,201 (GRCm38) probably benign Het
Tnfrsf11a A G 1: 105,827,100 (GRCm38) D299G possibly damaging Het
Trim32 T C 4: 65,613,455 (GRCm38) V83A possibly damaging Het
Unc13a A T 8: 71,660,481 (GRCm38) M242K probably benign Het
Vat1 C T 11: 101,462,215 (GRCm38) G293D probably damaging Het
Vmn1r174 T A 7: 23,754,467 (GRCm38) V186D possibly damaging Het
Wdfy3 A G 5: 101,948,898 (GRCm38) Y345H probably damaging Het
Zzef1 C T 11: 72,875,177 (GRCm38) T1510I probably benign 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
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
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'- TTTCATGAGATGGGCAAACTGAC -3'
(R):5'- TGACCACATTCCCGTTGACTAC -3'

Sequencing Primer
(F):5'- CAAACTGACATCTGGTGTGTGAC -3'
(R):5'- CGTTGACTACCACCAGAGTG -3'
Posted On 2021-10-11