Incidental Mutation 'R2044:Ptprj'
ID 221576
Institutional Source Beutler Lab
Gene Symbol Ptprj
Ensembl Gene ENSMUSG00000025314
Gene Name protein tyrosine phosphatase, receptor type, J
Synonyms CD148, Byp, Scc1, Scc-1, DEP-1, RPTPJ
MMRRC Submission 040051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R2044 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 90429754-90580647 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90463095 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 548 (V548A)
Ref Sequence ENSEMBL: ENSMUSP00000129592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111493] [ENSMUST00000111495] [ENSMUST00000168621]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000111493
AA Change: V362A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: V362A

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: V455A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: V455A

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: V548A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: V548A

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (92/94)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 36,978,094 (GRCm38) probably benign Het
Abhd15 A G 11: 77,518,338 (GRCm38) T293A probably benign Het
Aldh1l1 C T 6: 90,562,665 (GRCm38) P192L probably benign Het
Aldoart1 T G 4: 72,852,542 (GRCm38) I10L probably benign Het
Ankhd1 G A 18: 36,645,113 (GRCm38) G1653D probably benign Het
Ankk1 A C 9: 49,419,364 (GRCm38) probably null Het
Astn1 A G 1: 158,600,502 (GRCm38) T748A possibly damaging Het
Bmp7 C A 2: 172,939,915 (GRCm38) R52L possibly damaging Het
Ccdc151 T G 9: 21,991,858 (GRCm38) T419P possibly damaging Het
Ccdc33 G A 9: 58,031,112 (GRCm38) P859S possibly damaging Het
Ccny A G 18: 9,449,644 (GRCm38) S10P probably damaging Het
Cdc6 C A 11: 98,910,461 (GRCm38) F179L probably benign Het
Cdc7 T A 5: 106,983,132 (GRCm38) V491E probably benign Het
Cdh23 G T 10: 60,596,730 (GRCm38) S138R possibly damaging Het
Cenpc1 T C 5: 86,037,755 (GRCm38) H299R probably benign Het
Ciart A T 3: 95,878,701 (GRCm38) M354K probably benign Het
Clasrp G T 7: 19,586,715 (GRCm38) probably benign Het
Col4a3 G A 1: 82,696,319 (GRCm38) G1132E unknown Het
Crebbp G A 16: 4,084,823 (GRCm38) T2184I probably benign Het
Cyp2r1 A C 7: 114,550,405 (GRCm38) M458R probably damaging Het
Cyp7a1 C A 4: 6,275,492 (GRCm38) R27M probably null Het
Ddhd2 A G 8: 25,752,165 (GRCm38) F116L probably damaging Het
Dgkd G A 1: 87,927,691 (GRCm38) R685K probably benign Het
Dnah2 A G 11: 69,524,240 (GRCm38) S223P probably benign Het
Exph5 A T 9: 53,372,679 (GRCm38) R353S possibly damaging Het
F11 C A 8: 45,252,118 (GRCm38) V129F probably benign Het
F830045P16Rik A T 2: 129,459,397 (GRCm38) S454T possibly damaging Het
Fam124a T C 14: 62,587,207 (GRCm38) I50T probably damaging Het
Fam20c T C 5: 138,756,227 (GRCm38) probably null Het
Fam234b A G 6: 135,226,914 (GRCm38) T405A probably benign Het
Fbxo18 C A 2: 11,762,970 (GRCm38) V356L possibly damaging Het
Flywch1 G A 17: 23,762,313 (GRCm38) Q132* probably null Het
Foxo6 T C 4: 120,286,969 (GRCm38) D95G probably benign Het
Ggt5 T C 10: 75,604,087 (GRCm38) F174S probably damaging Het
Gm7104 G A 12: 88,285,781 (GRCm38) noncoding transcript Het
Gpr155 A G 2: 73,373,633 (GRCm38) L279P probably damaging Het
H2-T23 A G 17: 36,032,191 (GRCm38) L98P probably damaging Het
Heatr5a A G 12: 51,955,403 (GRCm38) V250A probably benign Het
Heyl A T 4: 123,241,363 (GRCm38) I50F probably damaging Het
Hist4h4 G C 6: 136,804,103 (GRCm38) R93G possibly damaging Het
Ifitm10 A T 7: 142,356,034 (GRCm38) S179R probably damaging Het
Isg15 A T 4: 156,199,792 (GRCm38) I93N probably benign Het
Itga10 G A 3: 96,657,690 (GRCm38) V985I probably benign Het
Itga10 C T 3: 96,651,738 (GRCm38) probably benign Het
Kcnt2 T C 1: 140,375,154 (GRCm38) I144T probably benign Het
Klk1 A C 7: 44,229,034 (GRCm38) K104T possibly damaging Het
Lemd3 C A 10: 120,933,442 (GRCm38) R654L probably damaging Het
Lmod1 A T 1: 135,364,387 (GRCm38) M327L probably benign Het
Lonrf2 T C 1: 38,807,050 (GRCm38) E347G probably benign Het
Ltbp1 A G 17: 75,276,432 (GRCm38) Y409C probably damaging Het
Mecom A T 3: 29,980,592 (GRCm38) Y312N probably damaging Het
Mrgprb3 C T 7: 48,643,734 (GRCm38) C23Y possibly damaging Het
Mut A G 17: 40,941,451 (GRCm38) T295A probably benign Het
Nadk C A 4: 155,585,441 (GRCm38) L194I probably damaging Het
Naxd A G 8: 11,509,510 (GRCm38) I182V probably benign Het
Nbeal1 T A 1: 60,319,687 (GRCm38) I1176K probably damaging Het
Nol4l C A 2: 153,529,521 (GRCm38) R81L possibly damaging Het
Olfr1297 T A 2: 111,621,814 (GRCm38) R87W probably benign Het
Olfr1411 G T 1: 92,596,969 (GRCm38) R150L probably benign Het
Olfr957 A T 9: 39,511,378 (GRCm38) M114K probably damaging Het
Pcdh18 A G 3: 49,754,940 (GRCm38) V642A probably benign Het
Pdzk1 G A 3: 96,855,848 (GRCm38) probably benign Het
Per3 C T 4: 151,033,938 (GRCm38) V233I probably benign Het
Pisd G A 5: 32,764,796 (GRCm38) P267S possibly damaging Het
Prm1 T A 16: 10,796,493 (GRCm38) probably benign Het
Ranbp3 G A 17: 56,673,367 (GRCm38) probably benign Het
Raver2 T A 4: 101,102,812 (GRCm38) V163D probably damaging Het
Rbm14 A T 19: 4,803,877 (GRCm38) I159N possibly damaging Het
Rfx6 G A 10: 51,718,126 (GRCm38) V381I probably benign Het
Rhobtb1 T C 10: 69,272,863 (GRCm38) probably benign Het
Rpl28-ps4 T A 6: 117,213,895 (GRCm38) noncoding transcript Het
Rsph10b A G 5: 143,967,250 (GRCm38) probably null Het
Rspo4 A G 2: 151,873,093 (GRCm38) K217E unknown Het
Scgb2b27 G A 7: 34,013,285 (GRCm38) A44V possibly damaging Het
Sec14l2 G A 11: 4,111,435 (GRCm38) probably benign Het
Sec31b T C 19: 44,536,156 (GRCm38) N101D probably benign Het
Sema6a A T 18: 47,306,429 (GRCm38) C9* probably null Het
Sept5 A C 16: 18,623,012 (GRCm38) L331R probably benign Het
Slc16a11 C A 11: 70,215,651 (GRCm38) Y238* probably null Het
Slc25a12 T C 2: 71,312,548 (GRCm38) T210A probably benign Het
Slc35f1 A T 10: 53,089,347 (GRCm38) Y286F probably damaging Het
Szt2 A T 4: 118,376,448 (GRCm38) L2225* probably null Het
Thap12 T C 7: 98,716,620 (GRCm38) L665P probably damaging Het
Tpsb2 T A 17: 25,367,724 (GRCm38) W237R probably damaging Het
Tyk2 T C 9: 21,120,341 (GRCm38) D451G probably damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm38) N231K probably benign Het
Vmn1r225 A T 17: 20,502,590 (GRCm38) T98S possibly damaging Het
Vmn1r87 A T 7: 13,131,821 (GRCm38) S180T probably benign Het
Vmn2r6 A G 3: 64,537,841 (GRCm38) V821A probably damaging Het
Zfp689 C A 7: 127,444,826 (GRCm38) G211C probably damaging Het
Zfp827 A G 8: 79,076,236 (GRCm38) D479G probably benign Het
Zfp995 A C 17: 21,880,594 (GRCm38) F220V probably damaging Het
Other mutations in Ptprj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Ptprj APN 2 90,452,144 (GRCm38) missense probably damaging 1.00
IGL01594:Ptprj APN 2 90,440,795 (GRCm38) splice site probably benign
IGL01767:Ptprj APN 2 90,469,574 (GRCm38) missense probably benign 0.11
IGL01917:Ptprj APN 2 90,469,749 (GRCm38) missense probably damaging 1.00
IGL01981:Ptprj APN 2 90,439,912 (GRCm38) missense probably damaging 1.00
IGL02830:Ptprj APN 2 90,453,144 (GRCm38) missense probably benign 0.22
IGL02955:Ptprj APN 2 90,468,464 (GRCm38) critical splice acceptor site probably null
IGL03102:Ptprj APN 2 90,478,968 (GRCm38) missense probably benign 0.02
IGL03150:Ptprj APN 2 90,460,611 (GRCm38) missense probably damaging 0.98
IGL03210:Ptprj APN 2 90,469,726 (GRCm38) missense probably benign 0.01
IGL02799:Ptprj UTSW 2 90,469,598 (GRCm38) missense probably benign 0.00
R0083:Ptprj UTSW 2 90,469,777 (GRCm38) splice site probably null
R0108:Ptprj UTSW 2 90,469,777 (GRCm38) splice site probably null
R0579:Ptprj UTSW 2 90,436,569 (GRCm38) critical splice acceptor site probably null
R1130:Ptprj UTSW 2 90,453,421 (GRCm38) missense probably damaging 1.00
R1160:Ptprj UTSW 2 90,444,524 (GRCm38) missense probably damaging 1.00
R1238:Ptprj UTSW 2 90,444,414 (GRCm38) splice site probably null
R1507:Ptprj UTSW 2 90,471,287 (GRCm38) missense possibly damaging 0.87
R1552:Ptprj UTSW 2 90,471,153 (GRCm38) missense probably damaging 0.98
R1607:Ptprj UTSW 2 90,463,320 (GRCm38) missense probably benign 0.14
R1693:Ptprj UTSW 2 90,449,797 (GRCm38) nonsense probably null
R2016:Ptprj UTSW 2 90,464,614 (GRCm38) missense probably damaging 1.00
R2017:Ptprj UTSW 2 90,464,614 (GRCm38) missense probably damaging 1.00
R2322:Ptprj UTSW 2 90,471,129 (GRCm38) missense probably benign 0.06
R2516:Ptprj UTSW 2 90,474,996 (GRCm38) splice site probably benign
R3106:Ptprj UTSW 2 90,440,631 (GRCm38) missense probably damaging 1.00
R3964:Ptprj UTSW 2 90,468,441 (GRCm38) missense probably benign 0.00
R4201:Ptprj UTSW 2 90,463,095 (GRCm38) missense probably damaging 0.99
R4533:Ptprj UTSW 2 90,439,955 (GRCm38) missense probably damaging 1.00
R4680:Ptprj UTSW 2 90,460,496 (GRCm38) missense probably benign 0.00
R4738:Ptprj UTSW 2 90,440,643 (GRCm38) missense probably damaging 1.00
R4983:Ptprj UTSW 2 90,460,532 (GRCm38) missense probably damaging 0.98
R5137:Ptprj UTSW 2 90,469,648 (GRCm38) missense possibly damaging 0.70
R5349:Ptprj UTSW 2 90,471,261 (GRCm38) missense probably benign 0.00
R5369:Ptprj UTSW 2 90,469,641 (GRCm38) missense probably benign 0.09
R5718:Ptprj UTSW 2 90,458,269 (GRCm38) missense probably benign 0.00
R5914:Ptprj UTSW 2 90,453,340 (GRCm38) missense possibly damaging 0.81
R6022:Ptprj UTSW 2 90,471,323 (GRCm38) missense probably benign 0.14
R6341:Ptprj UTSW 2 90,458,349 (GRCm38) missense probably benign
R6421:Ptprj UTSW 2 90,471,140 (GRCm38) missense possibly damaging 0.62
R6724:Ptprj UTSW 2 90,450,851 (GRCm38) missense probably benign 0.04
R6831:Ptprj UTSW 2 90,460,647 (GRCm38) missense probably damaging 1.00
R6939:Ptprj UTSW 2 90,459,514 (GRCm38) missense possibly damaging 0.68
R6972:Ptprj UTSW 2 90,580,403 (GRCm38) missense possibly damaging 0.91
R7134:Ptprj UTSW 2 90,464,478 (GRCm38) missense probably benign 0.16
R7149:Ptprj UTSW 2 90,444,446 (GRCm38) missense possibly damaging 0.95
R7243:Ptprj UTSW 2 90,446,421 (GRCm38) missense probably damaging 0.96
R7335:Ptprj UTSW 2 90,440,782 (GRCm38) missense probably benign 0.01
R7439:Ptprj UTSW 2 90,449,819 (GRCm38) missense possibly damaging 0.82
R7441:Ptprj UTSW 2 90,449,819 (GRCm38) missense possibly damaging 0.82
R7498:Ptprj UTSW 2 90,436,565 (GRCm38) nonsense probably null
R7571:Ptprj UTSW 2 90,455,186 (GRCm38) missense probably benign 0.24
R7657:Ptprj UTSW 2 90,452,157 (GRCm38) splice site probably null
R7672:Ptprj UTSW 2 90,460,596 (GRCm38) missense possibly damaging 0.49
R7849:Ptprj UTSW 2 90,444,460 (GRCm38) missense probably damaging 0.98
R7939:Ptprj UTSW 2 90,464,665 (GRCm38) missense probably damaging 1.00
R7958:Ptprj UTSW 2 90,469,627 (GRCm38) missense possibly damaging 0.71
R8338:Ptprj UTSW 2 90,471,137 (GRCm38) missense possibly damaging 0.48
R8354:Ptprj UTSW 2 90,469,717 (GRCm38) missense probably benign 0.43
R8556:Ptprj UTSW 2 90,440,700 (GRCm38) missense probably damaging 1.00
R8695:Ptprj UTSW 2 90,471,137 (GRCm38) missense possibly damaging 0.48
R8784:Ptprj UTSW 2 90,460,512 (GRCm38) missense possibly damaging 0.49
R8984:Ptprj UTSW 2 90,440,643 (GRCm38) missense probably damaging 1.00
R9054:Ptprj UTSW 2 90,460,640 (GRCm38) missense probably damaging 1.00
R9056:Ptprj UTSW 2 90,458,269 (GRCm38) missense probably benign 0.00
R9147:Ptprj UTSW 2 90,458,218 (GRCm38) missense probably benign 0.02
R9148:Ptprj UTSW 2 90,458,218 (GRCm38) missense probably benign 0.02
R9168:Ptprj UTSW 2 90,464,572 (GRCm38) missense possibly damaging 0.62
R9314:Ptprj UTSW 2 90,471,287 (GRCm38) missense possibly damaging 0.87
R9337:Ptprj UTSW 2 90,439,894 (GRCm38) missense probably damaging 1.00
R9546:Ptprj UTSW 2 90,444,461 (GRCm38) missense probably benign 0.08
RF013:Ptprj UTSW 2 90,471,170 (GRCm38) nonsense probably null
Z1177:Ptprj UTSW 2 90,460,569 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCAAGACAGCCAGGTTTG -3'
(R):5'- GCAATGACTCCAAGTCCTTCG -3'

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