Incidental Mutation 'R1529:Ptpn13'
ID 166445
Institutional Source Beutler Lab
Gene Symbol Ptpn13
Ensembl Gene ENSMUSG00000034573
Gene Name protein tyrosine phosphatase, non-receptor type 13
Synonyms PTPL1, PTP-BL, Ptpri
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R1529 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 103573058-103746169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103711998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1632 (N1632S)
Ref Sequence ENSEMBL: ENSMUSP00000048119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048957]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048957
AA Change: N1632S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: N1632S

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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
Aadacl2fm3 T C 3: 59,768,533 (GRCm39) I21T probably benign Het
Adam11 T C 11: 102,665,939 (GRCm39) probably null Het
Amd1 A T 10: 40,166,501 (GRCm39) M194K probably benign Het
Ap1b1 T G 11: 4,989,547 (GRCm39) F793C probably damaging Het
Arfgef3 G A 10: 18,488,970 (GRCm39) R1292* probably null Het
Arhgef5 C A 6: 43,256,449 (GRCm39) H1186N probably damaging Het
Atad1 A G 19: 32,684,321 (GRCm39) F26L probably benign Het
Atg2b C T 12: 105,627,392 (GRCm39) V532I probably benign Het
Atp2b4 A G 1: 133,645,726 (GRCm39) F943L probably damaging Het
Atp7b G A 8: 22,518,740 (GRCm39) L21F possibly damaging Het
Ccdc9b T A 2: 118,592,241 (GRCm39) probably null Het
Cenpf A T 1: 189,392,235 (GRCm39) D532E probably benign Het
Cimip3 G A 17: 47,724,815 (GRCm39) S102L probably benign Het
Ckmt2 A T 13: 92,009,320 (GRCm39) D202E probably benign Het
Crim1 A C 17: 78,675,383 (GRCm39) K864T probably benign Het
Ctnnd2 A G 15: 30,887,267 (GRCm39) R765G possibly damaging Het
Ddx10 T A 9: 53,028,499 (GRCm39) R802* probably null Het
Dnah7b T A 1: 46,216,441 (GRCm39) F1152L probably damaging Het
Dsg1c T C 18: 20,415,080 (GRCm39) L659P probably damaging Het
Dzank1 A G 2: 144,324,108 (GRCm39) F577L probably benign Het
Eci3 T C 13: 35,140,903 (GRCm39) D93G probably benign Het
Ecpas T C 4: 58,832,701 (GRCm39) probably null Het
Ep400 C A 5: 110,887,311 (GRCm39) V591L probably benign Het
Fgd3 T C 13: 49,420,170 (GRCm39) N569S probably benign Het
Ghsr T A 3: 27,426,631 (GRCm39) V229E probably damaging Het
Gna15 T A 10: 81,345,176 (GRCm39) I230F probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Grid1 T C 14: 35,031,250 (GRCm39) V281A probably benign Het
Hebp2 G A 10: 18,421,509 (GRCm39) A12V possibly damaging Het
Hfm1 T C 5: 107,000,989 (GRCm39) D1254G probably benign Het
Hif3a A C 7: 16,776,564 (GRCm39) S459A probably benign Het
Hnrnpl T A 7: 28,513,348 (GRCm39) N149K possibly damaging Het
Hoxc10 A T 15: 102,875,635 (GRCm39) S115C probably damaging Het
Hycc2 A T 1: 58,578,766 (GRCm39) D261E probably benign Het
Ifnab T C 4: 88,609,292 (GRCm39) D58G possibly damaging Het
Itfg1 T C 8: 86,537,243 (GRCm39) T195A probably benign Het
Itpr3 T A 17: 27,324,459 (GRCm39) probably null Het
Iws1 A G 18: 32,213,334 (GRCm39) D254G probably benign Het
Kl C A 5: 150,912,406 (GRCm39) D718E probably benign Het
Lrit2 A G 14: 36,790,784 (GRCm39) I154M probably benign Het
Lrp2 T C 2: 69,353,526 (GRCm39) D578G probably damaging Het
Lss T G 10: 76,372,123 (GRCm39) Y159* probably null Het
Mab21l1 C A 3: 55,691,254 (GRCm39) Y280* probably null Het
Maf A T 8: 116,419,909 (GRCm39) S378T probably benign Het
Mast2 C T 4: 116,287,716 (GRCm39) V59I probably benign Het
Nisch C T 14: 30,902,895 (GRCm39) probably benign Het
Nova2 A T 7: 18,691,479 (GRCm39) N139Y probably damaging Het
Nup210 C A 6: 91,013,358 (GRCm39) D434Y probably damaging Het
Nvl C T 1: 180,936,724 (GRCm39) probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or51g2 A G 7: 102,623,086 (GRCm39) Y38H probably damaging Het
Or56b1 A G 7: 104,285,696 (GRCm39) T272A probably benign Het
Or8k18 A T 2: 86,085,585 (GRCm39) Y151N probably damaging Het
Or8k3b A G 2: 86,520,677 (GRCm39) V214A possibly damaging Het
Pbx3 T C 2: 34,094,871 (GRCm39) Y255C probably damaging Het
Pcyt1a G A 16: 32,270,611 (GRCm39) E27K possibly damaging Het
Pex6 A T 17: 47,024,990 (GRCm39) T348S probably benign Het
Phf21b A G 15: 84,681,597 (GRCm39) I251T probably damaging Het
Pkd2l2 T C 18: 34,563,755 (GRCm39) I490T probably damaging Het
Pla2g12a T A 3: 129,672,534 (GRCm39) L56Q probably damaging Het
Plk4 A G 3: 40,760,971 (GRCm39) T434A probably benign Het
Rfpl4 C T 7: 5,113,711 (GRCm39) V151M probably damaging Het
Rpain G C 11: 70,865,741 (GRCm39) E169Q probably damaging Het
Samd8 T A 14: 21,825,227 (GRCm39) V124D possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc12a1 C T 2: 125,032,215 (GRCm39) T622I probably damaging Het
Slc17a3 T A 13: 24,029,428 (GRCm39) V67D probably damaging Het
Slc41a3 G T 6: 90,621,198 (GRCm39) V387L probably damaging Het
Slitrk1 T A 14: 109,150,709 (GRCm39) M1L probably benign Het
Stat4 T C 1: 52,050,952 (GRCm39) W4R probably damaging Het
Tas2r126 A G 6: 42,411,502 (GRCm39) T12A probably benign Het
Tbc1d24 A G 17: 24,404,953 (GRCm39) C64R probably damaging Het
Tcaf2 T C 6: 42,606,440 (GRCm39) S505G probably benign Het
Tiam2 T C 17: 3,566,978 (GRCm39) V1506A probably benign Het
Tmem9b A C 7: 109,336,156 (GRCm39) S163A probably benign Het
Tmtc2 G A 10: 105,139,519 (GRCm39) S669L probably damaging Het
Tnpo3 A T 6: 29,560,220 (GRCm39) I641K possibly damaging Het
Ttn C T 2: 76,565,711 (GRCm39) A28214T probably damaging Het
Utp11 G A 4: 124,577,032 (GRCm39) A113V probably benign Het
Utp20 G A 10: 88,588,868 (GRCm39) R2434C probably damaging Het
Vmn1r60 A T 7: 5,547,902 (GRCm39) I66N probably benign Het
Zeb2 T C 2: 44,887,206 (GRCm39) E572G probably damaging 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
R1533:Ptpn13 UTSW 5 103,704,044 (GRCm39) nonsense probably null
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'- GCAATGAGCTGGCCGTTTCAAAAG -3'
(R):5'- GCTGCTCTGGACACTGTAACACTG -3'

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