Incidental Mutation 'R6944:Ptpn13'
ID 540764
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 045058-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R6944 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 103573058-103746169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103624857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 54 (W54R)
Ref Sequence ENSEMBL: ENSMUSP00000048119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048957] [ENSMUST00000196014]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000048957
AA Change: W54R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: W54R

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
Predicted Effect probably damaging
Transcript: ENSMUST00000196014
AA Change: W54R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143571
Gene: ENSMUSG00000034573
AA Change: W54R

DomainStartEndE-ValueType
KIND 3 190 2.3e-80 SMART
Meta Mutation Damage Score 0.8420 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 97% (75/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,863,693 (GRCm39) V216G probably damaging Het
Abcb5 T C 12: 118,875,265 (GRCm39) R636G probably benign Het
Ago1 G T 4: 126,354,215 (GRCm39) F198L possibly damaging Het
Ankrd42 C T 7: 92,268,755 (GRCm39) probably null Het
Anxa11 T A 14: 25,875,176 (GRCm39) F274I probably damaging Het
Ascc1 T C 10: 59,849,475 (GRCm39) L122P probably damaging Het
Bptf T C 11: 106,971,649 (GRCm39) S953G probably damaging Het
Chml T A 1: 175,515,727 (GRCm39) N65Y probably damaging Het
Clcc1 A G 3: 108,578,284 (GRCm39) K262E probably damaging Het
Clhc1 T G 11: 29,519,346 (GRCm39) D384E probably damaging Het
Cnot2 G A 10: 116,373,128 (GRCm39) probably benign Het
Cntnap1 T C 11: 101,073,730 (GRCm39) V627A probably damaging Het
Col6a4 A G 9: 105,949,370 (GRCm39) V755A probably damaging Het
Cyp4f18 T A 8: 72,743,738 (GRCm39) I406F probably benign Het
Dclre1a T C 19: 56,533,451 (GRCm39) E381G possibly damaging Het
Dnah1 A G 14: 30,990,861 (GRCm39) Y3153H probably damaging Het
Dnah8 C A 17: 31,013,633 (GRCm39) D3791E probably benign Het
Dnah9 T C 11: 65,975,975 (GRCm39) E1358G possibly damaging Het
Eef1g G A 19: 8,945,656 (GRCm39) R30H probably benign Het
Egln3 A T 12: 54,230,738 (GRCm39) I181N probably benign Het
Entpd6 A G 2: 150,605,519 (GRCm39) T250A probably damaging Het
Epb41l5 C T 1: 119,536,859 (GRCm39) R344Q probably damaging Het
Fam20b T C 1: 156,515,091 (GRCm39) D258G probably benign Het
Fbxw18 A T 9: 109,531,655 (GRCm39) D21E probably damaging Het
Fbxw21 T C 9: 108,986,603 (GRCm39) E92G probably damaging Het
Fzd6 T A 15: 38,889,212 (GRCm39) M110K possibly damaging Het
Golgb1 C T 16: 36,732,475 (GRCm39) P574L probably benign Het
Gpr153 A G 4: 152,363,820 (GRCm39) E80G probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Kcnt1 T C 2: 25,767,840 (GRCm39) probably benign Het
Kcnt2 T G 1: 140,511,803 (GRCm39) V962G probably benign Het
Malt1 T C 18: 65,570,991 (GRCm39) V109A probably benign Het
Marchf7 A G 2: 60,064,587 (GRCm39) I288V probably benign Het
Mief1 C T 15: 80,133,644 (GRCm39) R234C probably damaging Het
Morc3 A G 16: 93,667,460 (GRCm39) S613G probably benign Het
Myt1 A G 2: 181,439,387 (GRCm39) E345G possibly damaging Het
Napb T C 2: 148,548,889 (GRCm39) T133A probably benign Het
Nwd1 T C 8: 73,380,162 (GRCm39) V16A possibly damaging Het
Oas1f G A 5: 120,986,247 (GRCm39) E67K probably benign Het
Obscn T C 11: 58,929,756 (GRCm39) K5153R probably damaging Het
Or2w3b T A 11: 58,623,068 (GRCm39) S308C possibly damaging Het
Or5a3 G T 19: 12,400,628 (GRCm39) M318I probably benign Het
Or5g26 C T 2: 85,494,195 (GRCm39) M194I probably benign Het
Or6d12 T C 6: 116,492,791 (GRCm39) F18L possibly damaging Het
Pdcd2 T C 17: 15,745,632 (GRCm39) N185S possibly damaging Het
Pgap1 A T 1: 54,569,320 (GRCm39) W349R probably damaging Het
Prpf39 T A 12: 65,089,454 (GRCm39) V64E probably benign Het
Rbms3 G T 9: 116,939,173 (GRCm39) P29Q probably damaging Het
Rnf123 A G 9: 107,940,822 (GRCm39) L679P probably benign Het
Samd4 T A 14: 47,254,092 (GRCm39) D84E possibly damaging Het
Scarf1 T C 11: 75,413,032 (GRCm39) V426A probably benign Het
Slc12a1 A G 2: 125,002,454 (GRCm39) N145D probably damaging Het
Slc2a6 A T 2: 26,916,076 (GRCm39) M99K probably damaging Het
Slc34a2 A T 5: 53,222,225 (GRCm39) I306L probably benign Het
Slx4ip A G 2: 136,910,195 (GRCm39) K397E probably damaging Het
Smr3a C T 5: 88,155,949 (GRCm39) probably benign Het
Spata31h1 A C 10: 82,132,056 (GRCm39) I318R probably benign Het
Spef2 T C 15: 9,592,835 (GRCm39) E1502G probably damaging Het
Sri A T 5: 8,113,365 (GRCm39) T119S probably benign Het
Synrg T A 11: 83,915,912 (GRCm39) L1085H probably damaging Het
Taf7 A T 18: 37,775,910 (GRCm39) L219H probably damaging Het
Tmco3 T A 8: 13,353,729 (GRCm39) V347E probably damaging Het
Tmem8b A T 4: 43,674,465 (GRCm39) I250F probably damaging Het
Tom1l2 A G 11: 60,139,817 (GRCm39) V239A probably damaging Het
Trpm1 T A 7: 63,893,181 (GRCm39) M1011K probably damaging Het
Tspan9 A T 6: 127,942,769 (GRCm39) Y153N probably benign Het
Ttll11 T C 2: 35,642,306 (GRCm39) H675R probably benign Het
Unc50 C T 1: 37,471,743 (GRCm39) T131M probably damaging Het
Vgf T A 5: 137,061,206 (GRCm39) I456N probably damaging Het
Vmn1r223 A G 13: 23,433,483 (GRCm39) I26V unknown Het
Vmn1r39 T C 6: 66,782,205 (GRCm39) M1V probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r14 T C 5: 109,363,925 (GRCm39) T664A probably benign Het
Vmn2r14 G A 5: 109,364,140 (GRCm39) T592I probably benign Het
Vmn2r96 T A 17: 18,817,891 (GRCm39) F489L probably benign Het
Vmn2r-ps158 T C 7: 42,697,393 (GRCm39) F817L possibly 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
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
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'- TTCCATTCGCATGCCATATTGG -3'
(R):5'- GCAGCCCATTGTTTTGACCTG -3'

Sequencing Primer
(F):5'- CCATATTGGCTCTGTGTATGAAACTG -3'
(R):5'- TGACCTGCCTGACTTCTATAAAAC -3'
Posted On 2018-11-28