Incidental Mutation 'R7672:Ptprj'
ID 592204
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R7672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 90260098-90410939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90290940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 600 (N600D)
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: N414D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: N414D

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: N507D

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: N507D

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: N600D

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: N600D

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: 99.7%
  • 20x: 99.1%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,836,191 (GRCm39) H134R probably damaging Het
Adcy4 A G 14: 56,018,362 (GRCm39) M195T probably benign Het
Aktip T C 8: 91,856,285 (GRCm39) N64S possibly damaging Het
Aldoart1 C A 4: 72,770,747 (GRCm39) M20I probably benign Het
Alms1 T C 6: 85,592,333 (GRCm39) L395P probably damaging Het
Ankrd9 C A 12: 110,943,180 (GRCm39) V252F probably benign Het
Apof A T 10: 128,104,885 (GRCm39) H13L probably benign Het
Bahcc1 T C 11: 120,174,172 (GRCm39) F1644S possibly damaging Het
Baz2a A G 10: 127,959,726 (GRCm39) D1377G possibly damaging Het
Bbox1 T A 2: 110,135,794 (GRCm39) I62F probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TCTGTGGTCACTGGT TCTGTGGTCACTGGTGCTGTGGTCACTGGT 3: 95,795,487 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG 3: 95,795,455 (GRCm39) probably benign Het
Bcas3 C T 11: 85,286,213 (GRCm39) R124* probably null Het
Bpnt1 T C 1: 185,078,879 (GRCm39) V114A probably damaging Het
Ccnd1 C T 7: 144,487,793 (GRCm39) R228H possibly damaging Het
Cd244a T C 1: 171,404,853 (GRCm39) V235A probably benign Het
Cramp1 C T 17: 25,201,440 (GRCm39) E681K probably damaging Het
Crebbp C T 16: 3,902,574 (GRCm39) A2222T probably benign Het
Cyp1a2 T A 9: 57,589,620 (GRCm39) T65S probably benign Het
Cyp26b1 T G 6: 84,561,351 (GRCm39) K104Q probably benign Het
D430041D05Rik T C 2: 104,071,581 (GRCm39) I556V probably benign Het
Dnase1l2 A G 17: 24,661,219 (GRCm39) L102P probably damaging Het
Eef1ece2 C A 16: 20,457,417 (GRCm39) A483E probably damaging Het
Elac1 C T 18: 73,871,925 (GRCm39) G357S probably benign Het
Enam C A 5: 88,651,830 (GRCm39) T1113N possibly damaging Het
Eogt A T 6: 97,090,870 (GRCm39) I423N probably damaging Het
Epc2 T C 2: 49,435,831 (GRCm39) S612P possibly damaging Het
Fam107b T C 2: 3,773,959 (GRCm39) V24A probably damaging Het
Fhip2a A G 19: 57,373,750 (GRCm39) H670R possibly damaging Het
Foxj3 C T 4: 119,477,429 (GRCm39) P413L unknown Het
Frg1 T C 8: 41,870,040 (GRCm39) probably benign Het
Fsip2 T A 2: 82,820,455 (GRCm39) V5396D possibly damaging Het
Hdlbp T C 1: 93,364,821 (GRCm39) T149A possibly damaging Het
Heatr1 A T 13: 12,453,545 (GRCm39) Q2140L probably damaging Het
Iqcd T C 5: 120,744,881 (GRCm39) L403P probably damaging Het
Kifbp A G 10: 62,413,852 (GRCm39) I102T probably benign Het
Kpna2 T G 11: 106,879,789 (GRCm39) N505T probably benign Het
Lipo3 T A 19: 33,757,785 (GRCm39) E228V probably benign Het
Map4k3 C T 17: 80,922,500 (GRCm39) V474I possibly damaging Het
Mrpl11 T C 19: 5,012,424 (GRCm39) S2P probably damaging Het
Mug2 A G 6: 122,017,678 (GRCm39) I472V probably benign Het
Myom1 G A 17: 71,391,235 (GRCm39) V915M possibly damaging Het
Nedd9 A T 13: 41,492,198 (GRCm39) I104N possibly damaging Het
Nphp3 A G 9: 103,909,159 (GRCm39) M790V probably benign Het
Nr3c2 C T 8: 77,635,838 (GRCm39) P313L probably damaging Het
Obsl1 A G 1: 75,469,365 (GRCm39) V1192A probably benign Het
Or10j2 C T 1: 173,098,440 (GRCm39) R233W probably benign Het
Or52e7 A G 7: 104,684,750 (GRCm39) H115R probably damaging Het
Or5t16 T C 2: 86,818,663 (GRCm39) I286V possibly damaging Het
Prr5l T G 2: 101,565,083 (GRCm39) E151A probably damaging Het
Psmb8 G T 17: 34,417,404 (GRCm39) R11L probably benign Het
Ptprg T A 14: 12,211,668 (GRCm38) H983Q probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rc3h1 A G 1: 160,778,454 (GRCm39) S460G probably damaging Het
Rhot2 A G 17: 26,062,079 (GRCm39) probably null Het
Sall1 T C 8: 89,757,927 (GRCm39) T726A probably damaging Het
Samd9l G A 6: 3,373,646 (GRCm39) T1205I probably benign Het
Sh2b3 C T 5: 121,956,822 (GRCm39) probably null Het
Slc22a18 G T 7: 143,044,557 (GRCm39) C170F probably damaging Het
Slc24a1 G A 9: 64,855,209 (GRCm39) T566I unknown Het
Slc4a5 T A 6: 83,237,517 (GRCm39) C167S probably damaging Het
Slc8b1 T G 5: 120,671,100 (GRCm39) V579G probably damaging Het
Snrnp200 T C 2: 127,063,822 (GRCm39) V667A probably damaging Het
Sp8 C A 12: 118,813,070 (GRCm39) S308R possibly damaging Het
Srsf9 T A 5: 115,468,619 (GRCm39) V85E probably damaging Het
Syne1 T C 10: 5,168,527 (GRCm39) I5285V probably benign Het
Tmem245 T C 4: 56,947,069 (GRCm39) I115V probably benign Het
Triqk A G 4: 12,980,502 (GRCm39) D82G probably benign Het
Trmt11 A T 10: 30,463,520 (GRCm39) S198R probably damaging Het
Ube4b C T 4: 149,471,661 (GRCm39) R75Q probably benign Het
Ugt3a1 C T 15: 9,310,779 (GRCm39) Q354* probably null Het
Vmn1r202 A G 13: 22,685,850 (GRCm39) V189A probably benign Het
Vmn2r26 A G 6: 124,016,606 (GRCm39) I357V probably benign Het
Wdr6 T C 9: 108,450,947 (GRCm39) K914R probably benign Het
Zfat T C 15: 68,130,535 (GRCm39) M1V probably null Het
Zfp207 A G 11: 80,280,116 (GRCm39) M171V probably benign Het
Zfp568 C T 7: 29,697,212 (GRCm39) T44I probably 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
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'- TCTGTAACCCAGAGGCATAGCC -3'
(R):5'- CTTTGAAGTGAAGCTGGAATCATG -3'

Sequencing Primer
(F):5'- AGTTACTGTACTTCCTCCATGGG -3'
(R):5'- GCACCACTGAAATGCAGT -3'
Posted On 2019-11-12