Incidental Mutation 'R0090:Ptpn13'
ID 20133
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 038377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R0090 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 103573058-103746169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103717369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1837 (V1837A)
Ref Sequence ENSEMBL: ENSMUSP00000048119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048957]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048957
AA Change: V1837A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: V1837A

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 0.5301 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.7%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4933427I04Rik A G 4: 123,754,775 (GRCm39) T230A possibly damaging Het
Acsm1 T C 7: 119,261,412 (GRCm39) probably benign Het
Acta1 T C 8: 124,620,396 (GRCm39) N14S probably damaging Het
Aff4 A G 11: 53,283,609 (GRCm39) T362A probably benign Het
Aggf1 A G 13: 95,501,467 (GRCm39) I305T probably benign Het
Ap4b1 A G 3: 103,727,745 (GRCm39) D325G possibly damaging Het
Ap4e1 C T 2: 126,906,905 (GRCm39) T1055I possibly damaging Het
Arhgef2 A T 3: 88,546,655 (GRCm39) Q496L probably damaging Het
Arhgef28 A G 13: 98,211,618 (GRCm39) F122L probably damaging Het
Baiap3 G A 17: 25,469,044 (GRCm39) probably benign Het
Casp8ap2 T A 4: 32,640,327 (GRCm39) H460Q probably damaging Het
Casz1 A G 4: 149,017,868 (GRCm39) T386A probably benign Het
Cd53 A T 3: 106,674,725 (GRCm39) V114E possibly damaging Het
Celsr2 A G 3: 108,300,643 (GRCm39) probably benign Het
Cfap300 T A 9: 8,027,184 (GRCm39) N118I probably benign Het
Chaf1b G T 16: 93,684,012 (GRCm39) A88S possibly damaging Het
Cldn10 A T 14: 119,111,612 (GRCm39) Y194F probably damaging Het
Clec2e A C 6: 129,072,181 (GRCm39) probably null Het
Cmpk2 A T 12: 26,528,021 (GRCm39) T413S probably benign Het
Col9a1 T A 1: 24,262,643 (GRCm39) probably null Het
Dchs1 G T 7: 105,405,139 (GRCm39) Q2468K probably benign Het
Ddx60 A G 8: 62,395,327 (GRCm39) D88G probably damaging Het
Dnah8 A G 17: 31,003,064 (GRCm39) R3588G probably benign Het
Ect2 T C 3: 27,169,625 (GRCm39) T774A probably benign Het
Ect2 C T 3: 27,192,651 (GRCm39) E431K probably null Het
Ern1 A G 11: 106,296,649 (GRCm39) V767A probably damaging Het
Fbln1 A C 15: 85,108,489 (GRCm39) E75A possibly damaging Het
Fgf5 C T 5: 98,409,846 (GRCm39) R132* probably null Het
Folh1 T C 7: 86,375,076 (GRCm39) probably benign Het
Gdf15 A T 8: 71,082,334 (GRCm39) H257Q probably damaging Het
Ghitm T C 14: 36,844,176 (GRCm39) T322A probably benign Het
Gm5709 A G 3: 59,526,192 (GRCm39) noncoding transcript Het
Hbb-y C T 7: 103,501,950 (GRCm39) probably null Het
Hmcn2 A T 2: 31,316,210 (GRCm39) D3771V probably damaging Het
Hspa12a T C 19: 58,787,941 (GRCm39) D627G probably benign Het
Idh2 T C 7: 79,747,662 (GRCm39) E286G probably damaging Het
Idh3b C A 2: 130,122,899 (GRCm39) A297S probably benign Het
Igsf3 A G 3: 101,342,968 (GRCm39) E535G probably damaging Het
Ilf3 T A 9: 21,306,710 (GRCm39) D314E probably damaging Het
Itgb8 A G 12: 119,166,298 (GRCm39) S78P probably benign Het
Itih5 G A 2: 10,169,495 (GRCm39) V31I probably benign Het
Kcnj2 T C 11: 110,963,853 (GRCm39) V415A probably benign Het
Kin A G 2: 10,090,584 (GRCm39) Q53R possibly damaging Het
Krt78 A T 15: 101,856,272 (GRCm39) M513K probably benign Het
Krtap4-8 A T 11: 99,671,312 (GRCm39) probably benign Het
Ltbr T C 6: 125,286,412 (GRCm39) probably benign Het
Mgat4a G A 1: 37,529,414 (GRCm39) T146I probably damaging Het
Mrps2 G C 2: 28,358,268 (GRCm39) W19C probably damaging Het
Mthfs T C 9: 89,093,344 (GRCm39) S33P probably damaging Het
Myh6 T C 14: 55,196,161 (GRCm39) D546G probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ndst2 T C 14: 20,777,335 (GRCm39) T553A probably damaging Het
Nlrp12 T C 7: 3,288,664 (GRCm39) E616G probably damaging Het
Nrde2 T C 12: 100,095,545 (GRCm39) probably benign Het
Nup210l G A 3: 90,119,086 (GRCm39) V1832I probably benign Het
Or1e1c G A 11: 73,266,402 (GRCm39) V276I probably benign Het
Or4k77 A T 2: 111,199,639 (GRCm39) I221F probably damaging Het
Pcm1 A T 8: 41,709,078 (GRCm39) E9D probably damaging Het
Pear1 A T 3: 87,661,649 (GRCm39) D541E possibly damaging Het
Peg10 A G 6: 4,756,063 (GRCm39) probably benign Het
Prss1 G A 6: 41,438,166 (GRCm39) R31Q probably benign Het
Rasgrp3 A G 17: 75,805,456 (GRCm39) D149G probably damaging Het
Reg3d A T 6: 78,355,466 (GRCm39) H8Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Sacs T A 14: 61,442,889 (GRCm39) L1645H probably damaging Het
Slc16a5 A T 11: 115,355,751 (GRCm39) S71C probably damaging Het
Slc9a3 A G 13: 74,306,847 (GRCm39) E324G probably damaging Het
Smgc T C 15: 91,743,960 (GRCm39) V574A possibly damaging Het
Stac3 C T 10: 127,339,799 (GRCm39) probably benign Het
Supv3l1 A G 10: 62,265,485 (GRCm39) L685P probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tas2r125 G T 6: 132,887,361 (GRCm39) A250S probably benign Het
Tdrd6 C T 17: 43,939,132 (GRCm39) V639I probably benign Het
Thap12 T G 7: 98,365,100 (GRCm39) W423G probably damaging Het
Tmem245 T C 4: 56,899,410 (GRCm39) I217V probably benign Het
Trip12 T A 1: 84,709,857 (GRCm39) probably benign Het
Tshz3 T C 7: 36,468,317 (GRCm39) V102A probably benign Het
Ubap1 T C 4: 41,379,826 (GRCm39) S347P probably damaging Het
Usp10 C T 8: 120,679,935 (GRCm39) Q612* probably null Het
Vmn2r72 T C 7: 85,404,084 (GRCm39) I36V probably benign Het
Vps37a T C 8: 40,980,030 (GRCm39) I63T possibly damaging Het
Whrn C A 4: 63,350,969 (GRCm39) R9L possibly damaging Het
Xrcc1 T C 7: 24,269,642 (GRCm39) Y401H probably damaging Het
Ylpm1 GCCTAAGCAGCAACCTAAG GCCTAAG 12: 85,075,814 (GRCm39) probably benign Het
Zfhx3 G A 8: 109,676,689 (GRCm39) D2580N possibly damaging Het
Zfhx4 A G 3: 5,308,685 (GRCm39) N637S probably damaging Het
Zfp268 A T 4: 145,349,195 (GRCm39) K211* probably null Het
Zyg11a A T 4: 108,058,544 (GRCm39) 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
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
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'- ATCTCAGGTCCATGAGACAGCCAG -3'
(R):5'- CCTTGACCTCCAGACAGGGAAAATC -3'

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