Incidental Mutation 'R4951:Ptpn13'
ID 381967
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 042548-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R4951 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 103573058-103746169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103735912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 2137 (P2137L)
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: P2137L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: P2137L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 98% (94/96)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,088,336 (GRCm39) E452K possibly damaging Het
Adcy10 T C 1: 165,391,532 (GRCm39) L1263P probably damaging Het
Adgrg1 G A 8: 95,731,874 (GRCm39) V179M probably damaging Het
Agap1 T A 1: 89,537,225 (GRCm39) V77E probably damaging Het
Ahnak A T 19: 8,995,199 (GRCm39) K5494N probably damaging Het
Arhgap19 A G 19: 41,762,545 (GRCm39) M437T probably benign Het
C2cd4c C A 10: 79,448,839 (GRCm39) A103S possibly damaging Het
Clip1 A T 5: 123,768,408 (GRCm39) D776E probably benign Het
Cntn3 C T 6: 102,145,986 (GRCm39) V952M possibly damaging Het
Col6a6 A G 9: 105,644,397 (GRCm39) probably null Het
Crtac1 C T 19: 42,402,570 (GRCm39) A13T probably benign Het
Ddx50 C T 10: 62,469,899 (GRCm39) A363T probably damaging Het
Dock9 A G 14: 121,890,547 (GRCm39) V241A probably benign Het
Dysf T C 6: 84,091,102 (GRCm39) probably null Het
Enpp3 A T 10: 24,674,175 (GRCm39) M375K probably damaging Het
Fam13c G A 10: 70,387,621 (GRCm39) probably null Het
Ftcd C T 10: 76,420,517 (GRCm39) A417V probably benign Het
Gak A G 5: 108,730,584 (GRCm39) S941P probably benign Het
Ganc A G 2: 120,286,528 (GRCm39) T786A probably benign Het
Gfi1 A C 5: 107,868,009 (GRCm39) S420A probably damaging Het
Ghsr A T 3: 27,426,510 (GRCm39) T189S possibly damaging Het
Glb1l C T 1: 75,185,019 (GRCm39) G122D probably damaging Het
Gm10065 C T 13: 21,663,421 (GRCm39) S64N unknown Het
Gm5087 C A 14: 13,158,749 (GRCm38) noncoding transcript Het
Gm973 G A 1: 59,580,633 (GRCm39) probably null Het
Gm9930 A T 10: 9,410,449 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,044 (GRCm39) Y781N probably damaging Het
Ide G A 19: 37,262,631 (GRCm39) L695F unknown Het
Il17re T A 6: 113,445,868 (GRCm39) V393E probably damaging Het
Lipo3 A G 19: 33,759,621 (GRCm39) V205A probably benign Het
Lipo5 C T 19: 33,446,251 (GRCm39) E49K probably damaging Het
Lonp1 A T 17: 56,927,335 (GRCm39) M306K possibly damaging Het
Lrig1 A G 6: 94,640,959 (GRCm39) L82P probably damaging Het
Lrp2 A T 2: 69,366,332 (GRCm39) C256S probably damaging Het
Map1b A T 13: 99,568,935 (GRCm39) I1262K unknown Het
Mctp1 C T 13: 76,975,894 (GRCm39) P756S probably damaging Het
Mdn1 T A 4: 32,707,459 (GRCm39) W1583R probably damaging Het
Mis12 T A 11: 70,916,473 (GRCm39) Y169N probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msh5 G A 17: 35,257,396 (GRCm39) Q333* probably null Het
Necap2 A T 4: 140,799,834 (GRCm39) probably null Het
Nfatc2 T C 2: 168,412,992 (GRCm39) D211G probably damaging Het
Nlrx1 A G 9: 44,164,726 (GRCm39) V906A possibly damaging Het
Or2ak7 G A 11: 58,575,589 (GRCm39) V297I probably damaging Het
Or4a2 T A 2: 89,248,116 (GRCm39) I214F probably benign Het
Or4l1 A T 14: 50,166,515 (GRCm39) L162* probably null Het
Or5b125-ps1 A T 19: 13,056,620 (GRCm39) noncoding transcript Het
Or8g24 A G 9: 38,989,555 (GRCm39) F162S probably benign Het
Pate5 A G 9: 35,750,732 (GRCm39) V30A probably damaging Het
Pkhd1l1 T A 15: 44,397,287 (GRCm39) N2057K possibly damaging Het
Ppip5k2 T C 1: 97,639,474 (GRCm39) K1078R possibly damaging Het
Prdm11 A G 2: 92,810,954 (GRCm39) I215T probably damaging Het
Rif1 T A 2: 51,974,998 (GRCm39) probably null Het
Rnf17 T C 14: 56,759,848 (GRCm39) V1551A probably benign Het
Ror2 C T 13: 53,271,183 (GRCm39) V391I probably benign Het
Rps6ka2 A T 17: 7,560,188 (GRCm39) D542V probably damaging Het
Sema4g A G 19: 44,985,010 (GRCm39) probably null Het
Serpinb6d T G 13: 33,850,366 (GRCm39) S64R probably benign Het
Serpine1 C T 5: 137,098,205 (GRCm39) R156K probably benign Het
Setdb2 A G 14: 59,639,752 (GRCm39) I713T possibly damaging Het
Slamf7 A G 1: 171,466,693 (GRCm39) F171L probably benign Het
Slc15a5 A G 6: 138,050,064 (GRCm39) L117S probably damaging Het
Slc8a3 T A 12: 81,362,760 (GRCm39) T20S probably damaging Het
Slc8a3 T A 12: 81,361,473 (GRCm39) T449S probably benign Het
Smc2 G A 4: 52,462,926 (GRCm39) V639M possibly damaging Het
Sra1 A T 18: 36,809,494 (GRCm39) C223* probably null Het
Srgap1 A T 10: 121,621,457 (GRCm39) M1012K probably benign Het
Stk-ps2 A T 1: 46,068,602 (GRCm39) noncoding transcript Het
Taar6 A T 10: 23,861,106 (GRCm39) S147T probably benign Het
Taf15 G A 11: 83,375,637 (GRCm39) G34D possibly damaging Het
Tarbp1 T C 8: 127,174,184 (GRCm39) E874G possibly damaging Het
Tob2 T C 15: 81,735,924 (GRCm39) Y15C probably damaging Het
Trim12a A G 7: 103,953,565 (GRCm39) V182A possibly damaging Het
Trim67 A G 8: 125,521,406 (GRCm39) E256G probably benign Het
Trrap T A 5: 144,742,530 (GRCm39) S1382T possibly damaging Het
Ttc39d T A 17: 80,523,462 (GRCm39) S40R probably benign Het
Ttn A T 2: 76,779,406 (GRCm39) V1158E probably benign Het
Vmn1r19 C T 6: 57,381,927 (GRCm39) T160I probably benign Het
Vmn2r100 T C 17: 19,752,300 (GRCm39) I781T probably benign Het
Vmn2r85 T C 10: 130,261,113 (GRCm39) E408G probably damaging Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Wdr27 A T 17: 15,096,395 (GRCm39) D796E probably damaging Het
Zfp365 C T 10: 67,725,821 (GRCm39) probably null Het
Zfp9 T G 6: 118,441,408 (GRCm39) H418P 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
R1529:Ptpn13 UTSW 5 103,711,998 (GRCm39) missense probably benign 0.00
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
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'- GACCTGTGAGCAGTGATGAG -3'
(R):5'- GTTCCACCTTGAAGGACATTTCC -3'

Sequencing Primer
(F):5'- ATGAGGTAGCTGCTTCAAGGC -3'
(R):5'- GGACATTTCCTAACCATGATCAC -3'
Posted On 2016-04-27