Incidental Mutation 'R5878:Ptpn13'
ID 455647
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 044084-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R5878 (G1)
Quality Score 224
Status Validated
Chromosome 5
Chromosomal Location 103573058-103746169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103624984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 96 (V96A)
Ref Sequence ENSEMBL: ENSMUSP00000048119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048957] [ENSMUST00000196014]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048957
AA Change: V96A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: V96A

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 benign
Transcript: ENSMUST00000196014
AA Change: V96A

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143571
Gene: ENSMUSG00000034573
AA Change: V96A

DomainStartEndE-ValueType
KIND 3 190 2.3e-80 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199412
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 99% (66/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,385,792 (GRCm39) N275K possibly damaging Het
Abhd6 G A 14: 8,028,286 (GRCm38) V6I probably benign Het
Afap1l2 T C 19: 56,904,107 (GRCm39) T727A probably benign Het
Aggf1 T C 13: 95,506,065 (GRCm39) E174G probably benign Het
Ahnak T G 19: 8,985,706 (GRCm39) L2330R probably damaging Het
Arb2a T A 13: 78,100,186 (GRCm39) V129E probably damaging Het
Arfgef2 A G 2: 166,712,137 (GRCm39) T1205A probably benign Het
Ccdc3 T C 2: 5,233,827 (GRCm39) L217P probably benign Het
Cfap54 T C 10: 92,800,423 (GRCm39) D1595G probably benign Het
Cps1 G T 1: 67,197,037 (GRCm39) probably null Het
Fam120b A G 17: 15,622,502 (GRCm39) D160G probably damaging Het
Fezf1 C A 6: 23,247,580 (GRCm39) R165L possibly damaging Het
Fkbp15 A T 4: 62,225,145 (GRCm39) L838H probably benign Het
Frmd3 G A 4: 74,071,847 (GRCm39) G243D probably damaging Het
Gldc A T 19: 30,120,867 (GRCm39) probably null Het
Gm10188 T C 1: 132,156,940 (GRCm39) probably benign Het
Gm5190 T A 12: 113,360,859 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,208,628 (GRCm39) probably null Het
Hdhd5 A G 6: 120,491,485 (GRCm39) L206P probably damaging Het
Herc2 A G 7: 55,773,996 (GRCm39) N1149S probably benign Het
Inca1 G A 11: 70,586,808 (GRCm39) probably benign Het
Iqch G A 9: 63,455,272 (GRCm39) S175F probably damaging Het
Itpr3 T G 17: 27,329,836 (GRCm39) D1543E probably benign Het
Khk T A 5: 31,088,219 (GRCm39) probably null Het
Kiz C T 2: 146,731,521 (GRCm39) S337L probably damaging Het
Lzts3 G A 2: 130,478,459 (GRCm39) T213I probably damaging Het
Mab21l2 T A 3: 86,454,025 (GRCm39) D325V probably damaging Het
Mctp2 A G 7: 71,863,856 (GRCm39) S336P probably benign Het
Me3 T A 7: 89,497,214 (GRCm39) L405Q probably benign Het
Mgst2 A T 3: 51,568,651 (GRCm39) probably benign Het
Myh2 A G 11: 67,083,330 (GRCm39) E1431G probably damaging Het
Naip6 A G 13: 100,436,181 (GRCm39) S781P probably damaging Het
Nr3c2 A G 8: 77,634,897 (GRCm39) probably null Het
Or10ab5 A T 7: 108,244,946 (GRCm39) L279Q probably damaging Het
Or6s1 A G 14: 51,308,449 (GRCm39) Y134H probably damaging Het
Or6x1 C T 9: 40,098,867 (GRCm39) T152I probably benign Het
Otop1 G T 5: 38,435,166 (GRCm39) R132L possibly damaging Het
Parg T A 14: 31,939,619 (GRCm39) D548E possibly damaging Het
Pcdhga4 G T 18: 37,820,739 (GRCm39) G763W probably benign Het
Pde10a A G 17: 9,168,204 (GRCm39) N9S possibly damaging Het
Pi4k2a T C 19: 42,089,080 (GRCm39) I147T probably benign Het
Polh T A 17: 46,505,251 (GRCm39) T122S probably damaging Het
Ptpn6 C A 6: 124,705,748 (GRCm39) C132F probably damaging Het
Rbm19 T A 5: 120,270,932 (GRCm39) V585E probably damaging Het
Relch T A 1: 105,620,685 (GRCm39) S387T probably benign Het
Rp1l1 C T 14: 64,266,355 (GRCm39) P647L probably benign Het
Rrp1b A G 17: 32,266,649 (GRCm39) E72G probably damaging Het
Shcbp1 A T 8: 4,798,742 (GRCm39) H392Q probably benign Het
Skic2 C T 17: 35,065,093 (GRCm39) R371Q possibly damaging Het
Slc13a5 G A 11: 72,144,217 (GRCm39) T287I possibly damaging Het
Slc22a27 T A 19: 7,904,122 (GRCm39) E5V probably benign Het
Slc38a2 A G 15: 96,590,465 (GRCm39) V293A probably damaging Het
Slco6d1 T A 1: 98,391,561 (GRCm39) probably benign Het
Sri G C 5: 8,109,353 (GRCm39) D46H probably damaging Het
Tango6 A G 8: 107,415,800 (GRCm39) D207G possibly damaging Het
Tigd4 T C 3: 84,501,749 (GRCm39) M222T probably benign Het
Tmem229a T C 6: 24,955,172 (GRCm39) D194G probably benign Het
Trank1 T C 9: 111,195,753 (GRCm39) V1259A possibly damaging Het
Trdv5 T C 14: 54,386,255 (GRCm39) D70G probably benign Het
Trim52 T A 14: 106,344,375 (GRCm39) M11K probably damaging Het
Wdr62 A G 7: 29,940,772 (GRCm39) M882T probably benign Het
Ybx3 A G 6: 131,344,726 (GRCm39) probably null Het
Zfand2b A G 1: 75,147,154 (GRCm39) probably benign Het
Zfp91 T A 19: 12,747,684 (GRCm39) T480S 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
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'- CAACCAGTGAGCATTGCTG -3'
(R):5'- TCCTAGGTCAATATGTTTTCCTGG -3'

Sequencing Primer
(F):5'- TGAGCATTGCTGACCCTG -3'
(R):5'- GCTGAATTCCGATAAAATCTTCAAAC -3'
Posted On 2017-02-10