Incidental Mutation 'R7335:Ptprj'
ID 569413
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 045372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R7335 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 90260098-90410939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90271126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1201 (Q1201K)
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: Q1015K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: Q1015K

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 benign
Transcript: ENSMUST00000111495
AA Change: Q1108K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: Q1108K

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 benign
Transcript: ENSMUST00000168621
AA Change: Q1201K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: Q1201K

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
Meta Mutation Damage Score 0.0809 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (56/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,493,093 (GRCm39) S35G probably benign Het
Adcy6 G T 15: 98,501,757 (GRCm39) Q286K probably benign Het
Agrn A G 4: 156,260,989 (GRCm39) S676P probably damaging Het
Arpp21 A T 9: 112,005,319 (GRCm39) probably null Het
Bmal2 A G 6: 146,711,217 (GRCm39) M74V probably benign Het
C1rb A T 6: 124,552,238 (GRCm39) I319F possibly damaging Het
C2cd3 T C 7: 100,071,810 (GRCm39) V629A Het
Cacna1i T G 15: 80,259,776 (GRCm39) F1287C probably damaging Het
Catspere2 A G 1: 177,926,074 (GRCm39) I247V probably benign Het
Cd101 C G 3: 100,926,045 (GRCm39) A229P probably benign Het
Cdh23 T C 10: 60,140,895 (GRCm39) D3151G probably damaging Het
Cenpc1 C A 5: 86,182,212 (GRCm39) K557N possibly damaging Het
Col6a4 G A 9: 105,954,091 (GRCm39) T416M possibly damaging Het
Cyp2c67 A T 19: 39,628,451 (GRCm39) C164* probably null Het
Dop1b A G 16: 93,544,396 (GRCm39) E179G probably benign Het
Duoxa2 A T 2: 122,131,821 (GRCm39) Y170F possibly damaging Het
Fras1 A G 5: 96,884,829 (GRCm39) K2569R possibly damaging Het
Fsip2 C A 2: 82,813,462 (GRCm39) H3260Q probably benign Het
Gm3402 T C 5: 146,452,043 (GRCm39) I121T probably benign Het
Herc3 T A 6: 58,853,773 (GRCm39) H606Q possibly damaging Het
Hmcn2 T C 2: 31,282,169 (GRCm39) V1927A possibly damaging Het
Hnf4g A G 3: 3,717,924 (GRCm39) H347R possibly damaging Het
Hs3st3a1 A G 11: 64,411,163 (GRCm39) T234A probably benign Het
Hyal1 G T 9: 107,456,359 (GRCm39) V379L probably benign Het
Ighv1-19 A G 12: 114,672,571 (GRCm39) probably benign Het
Iqcc T A 4: 129,510,501 (GRCm39) Q338L not run Het
Kdm5b T C 1: 134,488,177 (GRCm39) V34A probably damaging Het
Lgals4 T C 7: 28,540,571 (GRCm39) F225L probably benign Het
Lmtk3 C T 7: 45,444,581 (GRCm39) T1088I unknown Het
Magel2 A T 7: 62,030,524 (GRCm39) S1143C unknown Het
Mapk4 A T 18: 74,070,338 (GRCm39) L185Q possibly damaging Het
Mtcl2 T C 2: 156,872,925 (GRCm39) Q862R possibly damaging Het
Ncam1 A G 9: 49,418,211 (GRCm39) S1030P Het
Nynrin A T 14: 56,101,371 (GRCm39) T347S probably benign Het
Pak5 T C 2: 135,940,219 (GRCm39) T532A probably damaging Het
Pcdhb15 A G 18: 37,607,389 (GRCm39) E207G probably damaging Het
Pde6h T C 6: 136,940,211 (GRCm39) W66R probably damaging Het
Pmaip1 T C 18: 66,591,885 (GRCm39) probably null Het
Prkd3 A G 17: 79,261,995 (GRCm39) F774S probably damaging Het
Prox1 T A 1: 189,894,042 (GRCm39) R134S possibly damaging Het
Ptpn22 T A 3: 103,793,335 (GRCm39) H495Q probably damaging Het
Rp1l1 A G 14: 64,269,447 (GRCm39) S1678G probably benign Het
Sez6l G T 5: 112,724,678 (GRCm39) probably null Het
Sgcg T A 14: 61,477,816 (GRCm39) Y91F probably damaging Het
Skint2 C T 4: 112,481,415 (GRCm39) L93F probably damaging Het
Slc22a22 A T 15: 57,126,771 (GRCm39) D99E probably benign Het
Slco3a1 A G 7: 73,934,090 (GRCm39) I694T probably damaging Het
Smurf2 A T 11: 106,736,911 (GRCm39) I305N possibly damaging Het
Stac3 T A 10: 127,340,769 (GRCm39) V178D probably benign Het
Suclg2 G A 6: 95,543,444 (GRCm39) A329V probably damaging Het
Suclg2 T A 6: 95,543,441 (GRCm39) N330I probably damaging Het
Tas2r118 C T 6: 23,969,749 (GRCm39) C104Y probably damaging Het
Tom1l2 T G 11: 60,135,991 (GRCm39) E327D probably benign Het
Trit1 T C 4: 122,910,572 (GRCm39) M57T possibly damaging Het
Vav1 G A 17: 57,603,720 (GRCm39) S134N probably benign Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Zfp735 T A 11: 73,602,379 (GRCm39) V441E 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
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'- ACTCCCAACTGTGCATACCTG -3'
(R):5'- TGCGTTGTCTCCACATAGG -3'

Sequencing Primer
(F):5'- TACCTGCAATGCACCAGAATTG -3'
(R):5'- CGCTGCCCATCTTTAGAAGG -3'
Posted On 2019-09-13