Incidental Mutation 'R1533:Ptpn13'
ID 166734
Institutional Source Beutler Lab
Gene Symbol Ptpn13
Ensembl Gene ENSMUSG00000034573
Gene Name protein tyrosine phosphatase, non-receptor type 13
Synonyms PTPL1, PTP-BL, Ptpri
MMRRC Submission 039572-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R1533 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 103573058-103746169 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 103704044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 1359 (E1359*)
Ref Sequence ENSEMBL: ENSMUSP00000048119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048957]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000048957
AA Change: E1359*
SMART Domains Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: E1359*

DomainStartEndE-ValueType
KIND 3 190 2.3e-80 SMART
Blast:B41 340 447 6e-34 BLAST
coiled coil region 460 487 N/A INTRINSIC
B41 561 774 3.3e-68 SMART
FERM_C 780 869 3.2e-35 SMART
low complexity region 1049 1058 N/A INTRINSIC
PDZ 1093 1170 7.6e-25 SMART
low complexity region 1224 1236 N/A INTRINSIC
low complexity region 1309 1322 N/A INTRINSIC
low complexity region 1331 1341 N/A INTRINSIC
PDZ 1365 1442 1.7e-24 SMART
low complexity region 1450 1468 N/A INTRINSIC
PDZ 1499 1579 3.5e-19 SMART
PDZ 1773 1845 1.2e-21 SMART
PDZ 1867 1942 1.6e-16 SMART
low complexity region 2123 2134 N/A INTRINSIC
PTPc 2179 2436 6.9e-113 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G C 3: 121,928,807 (GRCm39) G1340A probably benign Het
Ambra1 T A 2: 91,717,210 (GRCm39) Y836N probably damaging Het
Arhgap26 A T 18: 39,504,130 (GRCm39) H144L probably benign Het
B3gnt5 A G 16: 19,588,364 (GRCm39) I194M probably damaging Het
Bltp1 G T 3: 37,095,524 (GRCm39) G4509V probably damaging Het
Bod1l A T 5: 41,979,498 (GRCm39) C605* probably null Het
C2cd3 G T 7: 100,055,284 (GRCm39) K482N possibly damaging Het
Cd300lg T A 11: 101,934,047 (GRCm39) L98Q probably damaging Het
Cerkl T A 2: 79,171,701 (GRCm39) I386F possibly damaging Het
Cfh T A 1: 140,028,716 (GRCm39) D466V possibly damaging Het
Crtc1 A T 8: 70,850,949 (GRCm39) I221N probably damaging Het
Ctnnbl1 T C 2: 157,678,563 (GRCm39) S389P probably benign Het
Ctsb A T 14: 63,376,544 (GRCm39) D258V probably damaging Het
Cuzd1 G T 7: 130,913,432 (GRCm39) T395N probably damaging Het
Dnah6 T C 6: 73,128,536 (GRCm39) T1240A probably benign Het
Dok7 T A 5: 35,221,671 (GRCm39) probably null Het
Dscaml1 T C 9: 45,361,882 (GRCm39) V214A probably damaging Het
Enpp6 A T 8: 47,518,469 (GRCm39) Y199F probably benign Het
Entpd5 C A 12: 84,441,434 (GRCm39) K111N probably damaging Het
Fam98a A G 17: 75,848,276 (GRCm39) L146S probably damaging Het
Fhod3 A T 18: 25,248,921 (GRCm39) I1367F probably damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Fpr3 T A 17: 18,190,922 (GRCm39) Y64* probably null Het
Fzd6 A T 15: 38,895,019 (GRCm39) H395L probably damaging Het
Gcsh T A 8: 117,715,921 (GRCm39) H54L probably damaging Het
Gsdma T A 11: 98,567,210 (GRCm39) S437T unknown Het
Gzmc A G 14: 56,471,376 (GRCm39) V55A probably damaging Het
Hecw2 T A 1: 53,965,704 (GRCm39) probably null Het
Ifi207 A G 1: 173,555,306 (GRCm39) V792A probably benign Het
Itpr3 C A 17: 27,314,534 (GRCm39) N661K possibly damaging Het
Jmy A T 13: 93,577,819 (GRCm39) I783N probably benign Het
Kcmf1 T C 6: 72,820,003 (GRCm39) E281G possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lgr6 T A 1: 135,032,670 (GRCm39) Y70F possibly damaging Het
Lnx1 T G 5: 74,780,678 (GRCm39) D330A probably damaging Het
Lrp5 T C 19: 3,664,234 (GRCm39) N106S probably benign Het
Mamdc4 C A 2: 25,459,759 (GRCm39) R135L possibly damaging Het
Mcm3ap A G 10: 76,340,121 (GRCm39) E1464G probably damaging Het
Megf8 T C 7: 25,034,280 (GRCm39) V666A possibly damaging Het
Mettl3 T A 14: 52,534,385 (GRCm39) E331D probably benign Het
Mphosph9 T C 5: 124,405,204 (GRCm39) K789R probably damaging Het
Mtf2 T C 5: 108,239,995 (GRCm39) L234P probably damaging Het
Ncdn C A 4: 126,642,491 (GRCm39) E389* probably null Het
Ndor1 A G 2: 25,139,279 (GRCm39) S231P probably damaging Het
Nelfa T G 5: 34,056,215 (GRCm39) K483Q probably damaging Het
Odad1 T A 7: 45,592,282 (GRCm39) M354K probably benign Het
Opn1sw C T 6: 29,378,923 (GRCm39) R243Q probably benign Het
Or13a24 T A 7: 140,155,034 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,792 (GRCm39) N284S probably damaging Het
Pik3cd T C 4: 149,739,653 (GRCm39) E584G probably damaging Het
Plcb3 A T 19: 6,935,041 (GRCm39) M870K possibly damaging Het
Poc5 A G 13: 96,528,152 (GRCm39) D16G probably damaging Het
Prpf40a A G 2: 53,035,852 (GRCm39) I633T probably damaging Het
Ptprr C A 10: 116,024,113 (GRCm39) Y4* probably null Het
Rbm45 T C 2: 76,202,503 (GRCm39) probably null Het
Rfng C T 11: 120,672,687 (GRCm39) W320* probably null Het
Rgs6 G T 12: 83,138,547 (GRCm39) V294L probably benign Het
Rufy4 T C 1: 74,169,002 (GRCm39) probably null Het
Ruvbl2 T A 7: 45,073,566 (GRCm39) N313I probably damaging Het
Sema4g G A 19: 44,981,256 (GRCm39) V70M probably damaging Het
Siglec1 T C 2: 130,918,078 (GRCm39) T969A probably benign Het
Slc22a27 T A 19: 7,844,348 (GRCm39) T431S possibly damaging Het
Slc25a16 G A 10: 62,756,643 (GRCm39) R38H probably damaging Het
Slc38a6 T C 12: 73,391,626 (GRCm39) V296A probably benign Het
Slc39a11 C T 11: 113,196,748 (GRCm39) V212I probably damaging Het
Sltm A G 9: 70,493,948 (GRCm39) K782E probably damaging Het
Styxl1 T A 5: 135,799,175 (GRCm39) Y23F probably damaging Het
Svs4 T C 2: 164,120,148 (GRCm39) I20V unknown Het
Syt14 G T 1: 192,613,084 (GRCm39) T572K possibly damaging Het
Tbc1d5 A T 17: 51,227,603 (GRCm39) I214N possibly damaging Het
Tm9sf3 A G 19: 41,227,223 (GRCm39) S283P probably benign Het
Tmtc1 C T 6: 148,147,208 (GRCm39) probably null Het
Ttll7 T A 3: 146,602,422 (GRCm39) N73K probably damaging Het
Ttn T A 2: 76,602,802 (GRCm39) K18473N probably damaging Het
Ubr2 A C 17: 47,278,173 (GRCm39) Y721* probably null Het
Vmn1r14 T A 6: 57,211,286 (GRCm39) I288N probably damaging Het
Vmn2r103 T C 17: 19,993,662 (GRCm39) I13T probably benign Het
Vps13a A T 19: 16,678,494 (GRCm39) Y1162* probably null Het
Vps51 C A 19: 6,121,497 (GRCm39) R175L probably benign Het
Zfp523 C A 17: 28,423,473 (GRCm39) S149R probably benign Het
Zik1 A G 7: 10,224,053 (GRCm39) I348T possibly damaging Het
Znfx1 T A 2: 166,898,708 (GRCm39) H72L probably benign Het
Other mutations in Ptpn13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ptpn13 APN 5 103,698,924 (GRCm39) missense probably damaging 1.00
IGL00569:Ptpn13 APN 5 103,738,872 (GRCm39) splice site probably benign
IGL00764:Ptpn13 APN 5 103,745,584 (GRCm39) missense probably damaging 1.00
IGL00805:Ptpn13 APN 5 103,702,595 (GRCm39) missense probably benign 0.33
IGL00922:Ptpn13 APN 5 103,735,954 (GRCm39) missense probably damaging 1.00
IGL00959:Ptpn13 APN 5 103,665,437 (GRCm39) critical splice donor site probably null
IGL01090:Ptpn13 APN 5 103,689,180 (GRCm39) missense probably null 0.80
IGL01352:Ptpn13 APN 5 103,634,641 (GRCm39) splice site probably null
IGL01510:Ptpn13 APN 5 103,710,166 (GRCm39) missense probably damaging 1.00
IGL01515:Ptpn13 APN 5 103,703,979 (GRCm39) missense probably benign 0.06
IGL01896:Ptpn13 APN 5 103,649,389 (GRCm39) missense possibly damaging 0.78
IGL02094:Ptpn13 APN 5 103,742,483 (GRCm39) missense probably damaging 1.00
IGL02561:Ptpn13 APN 5 103,710,157 (GRCm39) missense probably damaging 1.00
IGL02562:Ptpn13 APN 5 103,710,157 (GRCm39) missense probably damaging 1.00
IGL02567:Ptpn13 APN 5 103,710,157 (GRCm39) missense probably damaging 1.00
IGL02604:Ptpn13 APN 5 103,649,769 (GRCm39) missense probably benign 0.01
IGL02679:Ptpn13 APN 5 103,717,320 (GRCm39) missense possibly damaging 0.55
IGL02981:Ptpn13 APN 5 103,676,670 (GRCm39) missense probably damaging 1.00
IGL03131:Ptpn13 APN 5 103,665,425 (GRCm39) missense probably benign
IGL03136:Ptpn13 APN 5 103,691,329 (GRCm39) missense possibly damaging 0.49
IGL03163:Ptpn13 APN 5 103,739,212 (GRCm39) missense probably damaging 1.00
IGL03271:Ptpn13 APN 5 103,610,014 (GRCm39) missense probably damaging 1.00
IGL03297:Ptpn13 APN 5 103,688,943 (GRCm39) missense probably benign 0.13
IGL03328:Ptpn13 APN 5 103,664,214 (GRCm39) missense probably benign 0.00
IGL03343:Ptpn13 APN 5 103,702,816 (GRCm39) missense possibly damaging 0.88
IGL02835:Ptpn13 UTSW 5 103,707,891 (GRCm39) missense probably damaging 0.98
P0021:Ptpn13 UTSW 5 103,676,686 (GRCm39) missense probably benign 0.39
R0017:Ptpn13 UTSW 5 103,634,638 (GRCm39) critical splice donor site probably null
R0090:Ptpn13 UTSW 5 103,717,369 (GRCm39) missense probably damaging 1.00
R0111:Ptpn13 UTSW 5 103,728,629 (GRCm39) splice site probably benign
R0183:Ptpn13 UTSW 5 103,664,274 (GRCm39) missense probably benign 0.00
R0230:Ptpn13 UTSW 5 103,674,997 (GRCm39) missense probably damaging 1.00
R0302:Ptpn13 UTSW 5 103,713,091 (GRCm39) missense probably benign
R0360:Ptpn13 UTSW 5 103,681,214 (GRCm39) missense probably damaging 1.00
R0364:Ptpn13 UTSW 5 103,681,214 (GRCm39) missense probably damaging 1.00
R0388:Ptpn13 UTSW 5 103,702,928 (GRCm39) missense probably benign 0.31
R0504:Ptpn13 UTSW 5 103,649,362 (GRCm39) missense possibly damaging 0.92
R0558:Ptpn13 UTSW 5 103,677,583 (GRCm39) missense probably damaging 0.99
R0562:Ptpn13 UTSW 5 103,664,291 (GRCm39) critical splice donor site probably null
R0568:Ptpn13 UTSW 5 103,637,631 (GRCm39) missense probably damaging 1.00
R0609:Ptpn13 UTSW 5 103,704,011 (GRCm39) missense probably benign
R0669:Ptpn13 UTSW 5 103,703,975 (GRCm39) missense probably benign
R0739:Ptpn13 UTSW 5 103,722,998 (GRCm39) missense probably benign
R1006:Ptpn13 UTSW 5 103,734,655 (GRCm39) missense probably benign 0.04
R1164:Ptpn13 UTSW 5 103,637,639 (GRCm39) missense probably damaging 1.00
R1274:Ptpn13 UTSW 5 103,698,126 (GRCm39) missense probably damaging 0.98
R1501:Ptpn13 UTSW 5 103,664,230 (GRCm39) missense probably benign 0.01
R1529:Ptpn13 UTSW 5 103,711,998 (GRCm39) missense probably benign 0.00
R1613:Ptpn13 UTSW 5 103,684,737 (GRCm39) missense possibly damaging 0.89
R1616:Ptpn13 UTSW 5 103,713,103 (GRCm39) missense possibly damaging 0.49
R1830:Ptpn13 UTSW 5 103,691,325 (GRCm39) missense probably benign 0.00
R1892:Ptpn13 UTSW 5 103,649,545 (GRCm39) missense possibly damaging 0.92
R1907:Ptpn13 UTSW 5 103,728,575 (GRCm39) missense probably null 0.45
R2143:Ptpn13 UTSW 5 103,703,999 (GRCm39) missense probably benign
R2145:Ptpn13 UTSW 5 103,703,999 (GRCm39) missense probably benign
R2151:Ptpn13 UTSW 5 103,673,651 (GRCm39) missense probably damaging 1.00
R2180:Ptpn13 UTSW 5 103,717,424 (GRCm39) missense probably damaging 1.00
R2264:Ptpn13 UTSW 5 103,637,527 (GRCm39) missense possibly damaging 0.96
R2313:Ptpn13 UTSW 5 103,712,027 (GRCm39) missense probably damaging 1.00
R3522:Ptpn13 UTSW 5 103,737,720 (GRCm39) splice site probably benign
R3773:Ptpn13 UTSW 5 103,624,987 (GRCm39) missense probably damaging 1.00
R3924:Ptpn13 UTSW 5 103,698,607 (GRCm39) splice site probably benign
R4289:Ptpn13 UTSW 5 103,681,151 (GRCm39) missense probably damaging 1.00
R4348:Ptpn13 UTSW 5 103,717,592 (GRCm39) missense probably damaging 1.00
R4385:Ptpn13 UTSW 5 103,681,273 (GRCm39) splice site probably null
R4526:Ptpn13 UTSW 5 103,649,335 (GRCm39) missense probably benign 0.32
R4557:Ptpn13 UTSW 5 103,688,976 (GRCm39) missense probably damaging 1.00
R4596:Ptpn13 UTSW 5 103,671,558 (GRCm39) missense probably benign 0.06
R4632:Ptpn13 UTSW 5 103,717,726 (GRCm39) missense possibly damaging 0.46
R4727:Ptpn13 UTSW 5 103,717,721 (GRCm39) missense probably benign
R4780:Ptpn13 UTSW 5 103,734,639 (GRCm39) missense probably benign 0.04
R4793:Ptpn13 UTSW 5 103,730,644 (GRCm39) critical splice donor site probably null
R4812:Ptpn13 UTSW 5 103,671,481 (GRCm39) missense probably benign 0.00
R4939:Ptpn13 UTSW 5 103,665,335 (GRCm39) splice site probably null
R4951:Ptpn13 UTSW 5 103,735,912 (GRCm39) missense probably benign 0.00
R5052:Ptpn13 UTSW 5 103,709,846 (GRCm39) missense probably damaging 1.00
R5148:Ptpn13 UTSW 5 103,640,098 (GRCm39) missense probably damaging 1.00
R5309:Ptpn13 UTSW 5 103,688,919 (GRCm39) missense probably damaging 1.00
R5521:Ptpn13 UTSW 5 103,649,294 (GRCm39) missense probably benign 0.03
R5545:Ptpn13 UTSW 5 103,709,830 (GRCm39) missense probably damaging 1.00
R5696:Ptpn13 UTSW 5 103,702,625 (GRCm39) missense probably benign 0.20
R5735:Ptpn13 UTSW 5 103,702,686 (GRCm39) missense probably benign 0.03
R5815:Ptpn13 UTSW 5 103,745,556 (GRCm39) splice site probably null
R5876:Ptpn13 UTSW 5 103,624,826 (GRCm39) missense probably damaging 1.00
R5878:Ptpn13 UTSW 5 103,624,984 (GRCm39) missense possibly damaging 0.89
R6366:Ptpn13 UTSW 5 103,698,919 (GRCm39) missense probably damaging 1.00
R6455:Ptpn13 UTSW 5 103,689,150 (GRCm39) missense probably benign 0.00
R6492:Ptpn13 UTSW 5 103,649,478 (GRCm39) missense probably benign 0.02
R6709:Ptpn13 UTSW 5 103,734,622 (GRCm39) missense probably benign 0.18
R6759:Ptpn13 UTSW 5 103,713,121 (GRCm39) missense possibly damaging 0.49
R6944:Ptpn13 UTSW 5 103,624,857 (GRCm39) missense probably null 1.00
R7079:Ptpn13 UTSW 5 103,649,752 (GRCm39) missense probably benign 0.00
R7253:Ptpn13 UTSW 5 103,713,150 (GRCm39) missense possibly damaging 0.68
R7254:Ptpn13 UTSW 5 103,742,502 (GRCm39) missense probably damaging 1.00
R7391:Ptpn13 UTSW 5 103,688,847 (GRCm39) missense probably damaging 1.00
R7451:Ptpn13 UTSW 5 103,674,961 (GRCm39) missense probably benign 0.16
R7614:Ptpn13 UTSW 5 103,649,331 (GRCm39) missense probably benign 0.13
R7652:Ptpn13 UTSW 5 103,677,578 (GRCm39) missense probably benign 0.12
R7655:Ptpn13 UTSW 5 103,688,849 (GRCm39) missense probably benign 0.00
R7656:Ptpn13 UTSW 5 103,688,849 (GRCm39) missense probably benign 0.00
R7683:Ptpn13 UTSW 5 103,713,018 (GRCm39) missense probably benign 0.01
R7734:Ptpn13 UTSW 5 103,709,828 (GRCm39) missense probably damaging 1.00
R7794:Ptpn13 UTSW 5 103,640,090 (GRCm39) missense probably benign 0.06
R7834:Ptpn13 UTSW 5 103,610,014 (GRCm39) missense probably damaging 1.00
R7911:Ptpn13 UTSW 5 103,688,924 (GRCm39) missense probably damaging 1.00
R8010:Ptpn13 UTSW 5 103,707,803 (GRCm39) nonsense probably null
R8308:Ptpn13 UTSW 5 103,688,838 (GRCm39) missense probably damaging 0.99
R8493:Ptpn13 UTSW 5 103,717,671 (GRCm39) missense probably benign 0.01
R8493:Ptpn13 UTSW 5 103,712,031 (GRCm39) missense probably damaging 1.00
R8507:Ptpn13 UTSW 5 103,705,815 (GRCm39) missense probably damaging 1.00
R8556:Ptpn13 UTSW 5 103,707,038 (GRCm39) missense probably damaging 1.00
R8924:Ptpn13 UTSW 5 103,739,101 (GRCm39) missense probably damaging 1.00
R8933:Ptpn13 UTSW 5 103,727,671 (GRCm39) missense probably benign 0.00
R8958:Ptpn13 UTSW 5 103,698,973 (GRCm39) missense probably benign 0.15
R8975:Ptpn13 UTSW 5 103,649,266 (GRCm39) missense probably benign 0.32
R9080:Ptpn13 UTSW 5 103,637,494 (GRCm39) missense probably damaging 0.99
R9091:Ptpn13 UTSW 5 103,649,735 (GRCm39) missense possibly damaging 0.67
R9219:Ptpn13 UTSW 5 103,745,632 (GRCm39) missense probably benign 0.16
R9270:Ptpn13 UTSW 5 103,649,735 (GRCm39) missense possibly damaging 0.67
R9577:Ptpn13 UTSW 5 103,676,675 (GRCm39) missense probably damaging 1.00
R9593:Ptpn13 UTSW 5 103,674,998 (GRCm39) missense possibly damaging 0.94
R9705:Ptpn13 UTSW 5 103,681,221 (GRCm39) missense possibly damaging 0.89
RF017:Ptpn13 UTSW 5 103,741,446 (GRCm39) missense probably benign 0.45
Z1177:Ptpn13 UTSW 5 103,717,422 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGACCTGACAGTGTCTGGAAAG -3'
(R):5'- GCATTTGATAAGTGTCCCATCTGAGCC -3'

Sequencing Primer
(F):5'- AGTGTCTGGAAAGCCCCC -3'
(R):5'- TCTGAGCCACTGTAACTCAGC -3'
Posted On 2014-04-13