Incidental Mutation 'R8695:Ptprj'
ID 668597
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 068549-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R8695 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90260098-90410939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90301481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 217 (I217N)
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 benign
Transcript: ENSMUST00000111493
AA Change: I31N

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: I31N

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 possibly damaging
Transcript: ENSMUST00000111495
AA Change: I124N

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: I124N

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 possibly damaging
Transcript: ENSMUST00000168621
AA Change: I217N

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: I217N

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524J17Rik A G 8: 86,138,870 (GRCm39) I73T probably benign Het
4930556J24Rik A G 11: 3,926,192 (GRCm39) probably benign Het
Ace A G 11: 105,875,971 (GRCm39) T1010A probably benign Het
Adam20 A T 8: 41,248,865 (GRCm39) Y325F probably benign Het
Aff4 A C 11: 53,259,509 (GRCm39) N7H probably damaging Het
Apob A T 12: 8,057,830 (GRCm39) D2104V probably damaging Het
Asap3 T C 4: 135,965,722 (GRCm39) S411P probably benign Het
Atxn1l C T 8: 110,458,462 (GRCm39) G600D probably damaging Het
Brd3 A T 2: 27,352,558 (GRCm39) M124K probably benign Het
Bsx A G 9: 40,785,484 (GRCm39) N4S probably damaging Het
Ccdc125 T C 13: 100,814,552 (GRCm39) I44T probably benign Het
Ccdc141 G A 2: 76,879,963 (GRCm39) T620I probably benign Het
Ccdc178 T A 18: 22,157,809 (GRCm39) I550F probably benign Het
Ccdc77 G T 6: 120,318,962 (GRCm39) T163N probably damaging Het
Cd55 A T 1: 130,380,273 (GRCm39) I235K probably benign Het
Cdc123 A T 2: 5,826,174 (GRCm39) M118K possibly damaging Het
Cep192 A T 18: 67,951,958 (GRCm39) K378* probably null Het
Chd7 C T 4: 8,850,812 (GRCm39) R1733C probably damaging Het
Crybg2 A T 4: 133,792,766 (GRCm39) S134C possibly damaging Het
Cyp2d26 A G 15: 82,676,907 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,299 (GRCm39) probably null Het
Dyrk2 A T 10: 118,696,922 (GRCm39) V112E probably benign Het
Eppk1 A G 15: 75,994,598 (GRCm39) L761P probably benign Het
Evpl T C 11: 116,114,489 (GRCm39) K1067R probably benign Het
Fancm C A 12: 65,171,947 (GRCm39) D1862E probably damaging Het
Fhl2 A G 1: 43,167,571 (GRCm39) V174A probably damaging Het
Gemin4 A T 11: 76,102,656 (GRCm39) C702S probably damaging Het
Ggnbp2 T A 11: 84,760,767 (GRCm39) D10V possibly damaging Het
Glul T C 1: 153,778,769 (GRCm39) V26A probably benign Het
Gml2 A G 15: 74,696,089 (GRCm39) N161S probably benign Het
Gnao1 C A 8: 94,682,795 (GRCm39) T327K probably damaging Het
Gpr179 A G 11: 97,227,124 (GRCm39) V1677A possibly damaging Het
Greb1l A T 18: 10,544,450 (GRCm39) H1348L probably benign Het
Grm8 T C 6: 28,126,030 (GRCm39) H32R probably benign Het
Hk2 T A 6: 82,716,627 (GRCm39) M302L probably benign Het
Hnrnpm C A 17: 33,877,884 (GRCm39) M333I probably benign Het
Hsd3b1 A G 3: 98,760,223 (GRCm39) I256T probably damaging Het
Irx5 G A 8: 93,087,327 (GRCm39) G420R probably damaging Het
Krt87 A G 15: 101,331,901 (GRCm39) V279A probably benign Het
Lamb2 G A 9: 108,363,365 (GRCm39) S848N probably benign Het
Lypd10 A T 7: 24,413,203 (GRCm39) H174L probably benign Het
Mc1r A T 8: 124,135,116 (GRCm39) T290S probably benign Het
Or10d4 A T 9: 39,580,376 (GRCm39) T8S probably benign Het
Or52n2c A T 7: 104,574,146 (GRCm39) V275D probably benign Het
Or52z1 A T 7: 103,436,729 (GRCm39) C252S possibly damaging Het
Or6c202 T A 10: 128,996,233 (GRCm39) T207S probably damaging Het
Pex6 T C 17: 47,022,975 (GRCm39) S184P probably damaging Het
Pglyrp3 A T 3: 91,933,762 (GRCm39) S136C probably null Het
Pik3r1 A G 13: 101,894,062 (GRCm39) S36P probably benign Het
Pomt2 G T 12: 87,156,790 (GRCm39) T782K probably benign Het
Ppfibp2 A G 7: 107,285,063 (GRCm39) probably benign Het
Prdm9 T C 17: 15,765,019 (GRCm39) H587R probably damaging Het
Prp2 A G 6: 132,576,932 (GRCm39) Q73R unknown Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Rasal3 A G 17: 32,611,736 (GRCm39) F797S possibly damaging Het
Rsrp1 T A 4: 134,652,610 (GRCm39) M188K probably damaging Het
Senp8 A G 9: 59,644,499 (GRCm39) I219T probably damaging Het
Serpinb10 A T 1: 107,468,630 (GRCm39) N91I probably damaging Het
Skint4 C T 4: 111,975,264 (GRCm39) R75C probably damaging Het
Slc25a48 C A 13: 56,612,825 (GRCm39) A241E probably damaging Het
Slc39a6 C A 18: 24,736,811 (GRCm39) probably benign Het
Smarcc1 G A 9: 110,002,972 (GRCm39) R354H probably damaging Het
Spata21 G C 4: 140,838,755 (GRCm39) probably null Het
Sptbn2 A G 19: 4,796,724 (GRCm39) E1774G possibly damaging Het
Tep1 A T 14: 51,082,894 (GRCm39) F1038Y possibly damaging Het
Thbs2 T A 17: 14,899,963 (GRCm39) D638V probably benign Het
Tmem161a G T 8: 70,627,047 (GRCm39) C33F probably damaging Het
Trim47 T C 11: 116,000,926 (GRCm39) S41G probably benign Het
Trim56 T A 5: 137,143,429 (GRCm39) H29L probably benign Het
Ugt2b35 T A 5: 87,156,064 (GRCm39) H385Q probably damaging Het
Ugt2b37 T A 5: 87,390,243 (GRCm39) H401L probably benign Het
Usp44 A C 10: 93,682,365 (GRCm39) T272P probably damaging Het
Usp46 C T 5: 74,189,897 (GRCm39) E156K probably benign Het
Vmn1r232 T C 17: 21,134,109 (GRCm39) K164E probably benign Het
Zan T A 5: 137,385,217 (GRCm39) N5072I unknown Het
Zfp318 T C 17: 46,723,576 (GRCm39) S1860P probably benign Het
Zfp616 C T 11: 73,975,710 (GRCm39) R660W probably benign Het
Zfp870 C T 17: 33,102,679 (GRCm39) V217I 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
R2017: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
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'- CACTTGATATCCAGGACTATGGG -3'
(R):5'- TCGTCAGCCCAACTAGTGTG -3'

Sequencing Primer
(F):5'- GATATCCAGGACTATGGGATCTTAG -3'
(R):5'- GTCAGCCCAACTAGTGTGTTATTAAC -3'
Posted On 2021-04-30