Incidental Mutation 'R2017:Ptprj'
ID 223151
Institutional Source Beutler Lab
Gene Symbol Ptprj
Ensembl Gene ENSMUSG00000025314
Gene Name protein tyrosine phosphatase receptor type J
Synonyms Byp, RPTPJ, Scc1, CD148, DEP-1, Scc-1
MMRRC Submission 040026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R2017 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 90260098-90410939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90294958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 417 (V417M)
Ref Sequence ENSEMBL: ENSMUSP00000129592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111493] [ENSMUST00000111495] [ENSMUST00000168621]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000111493
AA Change: V231M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: V231M

DomainStartEndE-ValueType
low complexity region 34 46 N/A INTRINSIC
FN3 47 182 3.76e-6 SMART
FN3 194 271 4.56e-5 SMART
FN3 282 357 5.32e-6 SMART
FN3 368 446 2.19e-7 SMART
FN3 455 531 5e-2 SMART
FN3 546 628 2.77e1 SMART
low complexity region 637 650 N/A INTRINSIC
Blast:PTPc 714 797 8e-26 BLAST
PTPc 867 1127 3.37e-133 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111495
AA Change: V324M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: V324M

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
FN3 59 131 2.85e-6 SMART
FN3 140 275 3.76e-6 SMART
FN3 287 364 4.56e-5 SMART
FN3 375 450 5.32e-6 SMART
FN3 461 539 2.19e-7 SMART
FN3 548 624 5e-2 SMART
FN3 639 721 2.77e1 SMART
low complexity region 730 743 N/A INTRINSIC
Blast:PTPc 807 890 1e-25 BLAST
PTPc 960 1220 3.37e-133 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168621
AA Change: V417M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: V417M

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 26 94 N/A INTRINSIC
low complexity region 133 140 N/A INTRINSIC
FN3 152 224 2.85e-6 SMART
FN3 233 368 3.76e-6 SMART
FN3 380 457 4.56e-5 SMART
FN3 468 543 5.32e-6 SMART
FN3 554 632 2.19e-7 SMART
FN3 641 717 5e-2 SMART
FN3 732 814 2.77e1 SMART
low complexity region 823 836 N/A INTRINSIC
Blast:PTPc 900 983 1e-25 BLAST
PTPc 1053 1313 3.37e-133 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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 known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die in utero displaying severe growth retardation and cardiovascular defects. Homozygotes for a second null allele are viable, fertile and healthy with no spontaneous tumor formation. Homozygotes for a third null allele show sterility and a block B cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abcc1 T A 16: 14,279,068 (GRCm39) V1126E probably damaging Het
Abcc12 A G 8: 87,290,617 (GRCm39) L41S probably damaging Het
Adgrg7 T C 16: 56,553,169 (GRCm39) T643A probably benign Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Apool T A X: 111,274,258 (GRCm39) S234T probably benign Het
Ascc3 C T 10: 50,566,307 (GRCm39) P751S probably benign Het
Astn2 G A 4: 65,459,178 (GRCm39) T1079I probably damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcas1 A C 2: 170,190,081 (GRCm39) probably null Het
Btk T C X: 133,448,350 (GRCm39) D355G probably benign Het
C2cd4c A G 10: 79,448,823 (GRCm39) V108A possibly damaging Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Cd22 A T 7: 30,572,205 (GRCm39) L423Q probably damaging Het
Cep128 T C 12: 91,333,238 (GRCm39) D9G probably damaging Het
Cer1 A T 4: 82,801,120 (GRCm39) V181D probably damaging Het
Ciita T C 16: 10,329,540 (GRCm39) L584P probably damaging Het
Cmss1 T C 16: 57,136,641 (GRCm39) D77G probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Cyria T A 12: 12,412,362 (GRCm39) V208D probably damaging Het
Dcaf1 A G 9: 106,725,122 (GRCm39) E536G probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dsg1c T C 18: 20,399,253 (GRCm39) V119A possibly damaging Het
Edn3 A G 2: 174,620,455 (GRCm39) E103G probably benign Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Epx T C 11: 87,765,163 (GRCm39) D178G probably damaging Het
Fkbp10 G A 11: 100,312,499 (GRCm39) V252I possibly damaging Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Gla C T X: 133,497,071 (GRCm39) A39T probably damaging Het
Hivep2 C T 10: 14,006,501 (GRCm39) T1033M probably damaging Het
Hsd17b8 A T 17: 34,245,187 (GRCm39) M259K probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Ikzf4 C T 10: 128,470,026 (GRCm39) G498D probably damaging Het
Impg1 T C 9: 80,322,720 (GRCm39) Y95C probably damaging Het
Ino80c T A 18: 24,244,810 (GRCm39) K136* probably null Het
Iqsec1 A C 6: 90,666,912 (GRCm39) H508Q probably benign Het
Itgb3 A G 11: 104,528,788 (GRCm39) H305R possibly damaging Het
Jup T A 11: 100,277,167 (GRCm39) T14S probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 T C 14: 100,260,073 (GRCm39) R219G possibly damaging Het
Klhl42 G T 6: 147,009,291 (GRCm39) V377L probably benign Het
Large1 A G 8: 73,578,825 (GRCm39) F460S probably damaging Het
Loxl3 A T 6: 83,025,958 (GRCm39) D402V probably damaging Het
Lrrc37a T A 11: 103,391,951 (GRCm39) Y1158F probably benign Het
Map2 T A 1: 66,451,958 (GRCm39) S365T probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Med26 A G 8: 73,250,791 (GRCm39) S103P probably damaging Het
Muc4 T C 16: 32,570,121 (GRCm39) S394P possibly damaging Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Obox5 T C 7: 15,492,807 (GRCm39) I254T probably benign Het
Or1p1c T A 11: 74,161,159 (GRCm39) W315R probably benign Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or52j3 T C 7: 102,836,137 (GRCm39) F110L probably benign Het
Or7c19 T C 8: 85,957,373 (GRCm39) L83P possibly damaging Het
Pacs2 A T 12: 113,026,077 (GRCm39) N545Y probably damaging Het
Palld T C 8: 62,137,799 (GRCm39) E652G probably damaging Het
Pgm5 T C 19: 24,801,676 (GRCm39) N184S probably benign Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Pramel13 A G 4: 144,121,244 (GRCm39) V260A possibly damaging Het
Prr36 T A 8: 4,265,205 (GRCm39) T182S probably benign Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprm G T 17: 67,264,148 (GRCm39) probably null Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Rfx6 A G 10: 51,597,700 (GRCm39) N513S possibly damaging Het
Rhbdf1 A G 11: 32,160,471 (GRCm39) I693T probably damaging Het
Scn9a T C 2: 66,345,665 (GRCm39) T1143A probably damaging Het
Spata17 A G 1: 186,780,650 (GRCm39) S366P possibly damaging Het
Svep1 A G 4: 58,070,568 (GRCm39) L2406P probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tgfb2 A T 1: 186,362,962 (GRCm39) Y287* probably null Het
Trip11 A T 12: 101,851,619 (GRCm39) V815E probably benign Het
Trp53bp2 G T 1: 182,276,580 (GRCm39) V854L probably benign Het
Vmn1r78 T C 7: 11,887,270 (GRCm39) S294P possibly damaging Het
Vmn2r86 T C 10: 130,282,582 (GRCm39) K678R probably benign Het
Yeats2 T A 16: 19,977,931 (GRCm39) N138K probably benign Het
Zup1 A T 10: 33,803,460 (GRCm39) N541K possibly damaging Het
Other mutations in Ptprj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Ptprj APN 2 90,282,488 (GRCm39) missense probably damaging 1.00
IGL01594:Ptprj APN 2 90,271,139 (GRCm39) splice site probably benign
IGL01767:Ptprj APN 2 90,299,918 (GRCm39) missense probably benign 0.11
IGL01917:Ptprj APN 2 90,300,093 (GRCm39) missense probably damaging 1.00
IGL01981:Ptprj APN 2 90,270,256 (GRCm39) missense probably damaging 1.00
IGL02830:Ptprj APN 2 90,283,488 (GRCm39) missense probably benign 0.22
IGL02955:Ptprj APN 2 90,298,808 (GRCm39) critical splice acceptor site probably null
IGL03102:Ptprj APN 2 90,309,312 (GRCm39) missense probably benign 0.02
IGL03150:Ptprj APN 2 90,290,955 (GRCm39) missense probably damaging 0.98
IGL03210:Ptprj APN 2 90,300,070 (GRCm39) missense probably benign 0.01
IGL02799:Ptprj UTSW 2 90,299,942 (GRCm39) missense probably benign 0.00
R0083:Ptprj UTSW 2 90,300,121 (GRCm39) splice site probably null
R0108:Ptprj UTSW 2 90,300,121 (GRCm39) splice site probably null
R0579:Ptprj UTSW 2 90,266,913 (GRCm39) critical splice acceptor site probably null
R1130:Ptprj UTSW 2 90,283,765 (GRCm39) missense probably damaging 1.00
R1160:Ptprj UTSW 2 90,274,868 (GRCm39) missense probably damaging 1.00
R1238:Ptprj UTSW 2 90,274,758 (GRCm39) splice site probably null
R1507:Ptprj UTSW 2 90,301,631 (GRCm39) missense possibly damaging 0.87
R1552:Ptprj UTSW 2 90,301,497 (GRCm39) missense probably damaging 0.98
R1607:Ptprj UTSW 2 90,293,664 (GRCm39) missense probably benign 0.14
R1693:Ptprj UTSW 2 90,280,141 (GRCm39) nonsense probably null
R2016:Ptprj UTSW 2 90,294,958 (GRCm39) missense probably damaging 1.00
R2044:Ptprj UTSW 2 90,293,439 (GRCm39) missense probably damaging 0.96
R2322:Ptprj UTSW 2 90,301,473 (GRCm39) missense probably benign 0.06
R2516:Ptprj UTSW 2 90,305,340 (GRCm39) splice site probably benign
R3106:Ptprj UTSW 2 90,270,975 (GRCm39) missense probably damaging 1.00
R3964:Ptprj UTSW 2 90,298,785 (GRCm39) missense probably benign 0.00
R4201:Ptprj UTSW 2 90,293,439 (GRCm39) missense probably damaging 0.99
R4533:Ptprj UTSW 2 90,270,299 (GRCm39) missense probably damaging 1.00
R4680:Ptprj UTSW 2 90,290,840 (GRCm39) missense probably benign 0.00
R4738:Ptprj UTSW 2 90,270,987 (GRCm39) missense probably damaging 1.00
R4983:Ptprj UTSW 2 90,290,876 (GRCm39) missense probably damaging 0.98
R5137:Ptprj UTSW 2 90,299,992 (GRCm39) missense possibly damaging 0.70
R5349:Ptprj UTSW 2 90,301,605 (GRCm39) missense probably benign 0.00
R5369:Ptprj UTSW 2 90,299,985 (GRCm39) missense probably benign 0.09
R5718:Ptprj UTSW 2 90,288,613 (GRCm39) missense probably benign 0.00
R5914:Ptprj UTSW 2 90,283,684 (GRCm39) missense possibly damaging 0.81
R6022:Ptprj UTSW 2 90,301,667 (GRCm39) missense probably benign 0.14
R6341:Ptprj UTSW 2 90,288,693 (GRCm39) missense probably benign
R6421:Ptprj UTSW 2 90,301,484 (GRCm39) missense possibly damaging 0.62
R6724:Ptprj UTSW 2 90,281,195 (GRCm39) missense probably benign 0.04
R6831:Ptprj UTSW 2 90,290,991 (GRCm39) missense probably damaging 1.00
R6939:Ptprj UTSW 2 90,289,858 (GRCm39) missense possibly damaging 0.68
R6972:Ptprj UTSW 2 90,410,747 (GRCm39) missense possibly damaging 0.91
R7134:Ptprj UTSW 2 90,294,822 (GRCm39) missense probably benign 0.16
R7149:Ptprj UTSW 2 90,274,790 (GRCm39) missense possibly damaging 0.95
R7243:Ptprj UTSW 2 90,276,765 (GRCm39) missense probably damaging 0.96
R7335:Ptprj UTSW 2 90,271,126 (GRCm39) missense probably benign 0.01
R7439:Ptprj UTSW 2 90,280,163 (GRCm39) missense possibly damaging 0.82
R7441:Ptprj UTSW 2 90,280,163 (GRCm39) missense possibly damaging 0.82
R7498:Ptprj UTSW 2 90,266,909 (GRCm39) nonsense probably null
R7571:Ptprj UTSW 2 90,285,530 (GRCm39) missense probably benign 0.24
R7657:Ptprj UTSW 2 90,282,501 (GRCm39) splice site probably null
R7672:Ptprj UTSW 2 90,290,940 (GRCm39) missense possibly damaging 0.49
R7849:Ptprj UTSW 2 90,274,804 (GRCm39) missense probably damaging 0.98
R7939:Ptprj UTSW 2 90,295,009 (GRCm39) missense probably damaging 1.00
R7958:Ptprj UTSW 2 90,299,971 (GRCm39) missense possibly damaging 0.71
R8338:Ptprj UTSW 2 90,301,481 (GRCm39) missense possibly damaging 0.48
R8354:Ptprj UTSW 2 90,300,061 (GRCm39) missense probably benign 0.43
R8556:Ptprj UTSW 2 90,271,044 (GRCm39) missense probably damaging 1.00
R8695:Ptprj UTSW 2 90,301,481 (GRCm39) missense possibly damaging 0.48
R8784:Ptprj UTSW 2 90,290,856 (GRCm39) missense possibly damaging 0.49
R8984:Ptprj UTSW 2 90,270,987 (GRCm39) missense probably damaging 1.00
R9054:Ptprj UTSW 2 90,290,984 (GRCm39) missense probably damaging 1.00
R9056:Ptprj UTSW 2 90,288,613 (GRCm39) missense probably benign 0.00
R9147:Ptprj UTSW 2 90,288,562 (GRCm39) missense probably benign 0.02
R9148:Ptprj UTSW 2 90,288,562 (GRCm39) missense probably benign 0.02
R9168:Ptprj UTSW 2 90,294,916 (GRCm39) missense possibly damaging 0.62
R9314:Ptprj UTSW 2 90,301,631 (GRCm39) missense possibly damaging 0.87
R9337:Ptprj UTSW 2 90,270,238 (GRCm39) missense probably damaging 1.00
R9546:Ptprj UTSW 2 90,274,805 (GRCm39) missense probably benign 0.08
RF013:Ptprj UTSW 2 90,301,514 (GRCm39) nonsense probably null
Z1177:Ptprj UTSW 2 90,290,913 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCCGACCAAATAGCAAGGA -3'
(R):5'- CATGGTGAGCTGATGGTGAG -3'

Sequencing Primer
(F):5'- GAGCGAACTTACAAGTGTACAC -3'
(R):5'- GCGACTGACTGATGAACCCTC -3'
Posted On 2014-08-25