Incidental Mutation 'R8984:Ptprj'
ID 683868
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 068817-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R8984 (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 A at 90270987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 1247 (P1247L)
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: P1061L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: P1061L

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: P1154L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: P1154L

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: P1247L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: P1247L

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 0.8715 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T A 9: 122,180,880 (GRCm39) V10E probably benign Het
Adss2 A T 1: 177,601,280 (GRCm39) probably benign Het
AI467606 A T 7: 126,691,673 (GRCm39) I83F probably damaging Het
Atn1 A T 6: 124,723,923 (GRCm39) W437R unknown Het
Atxn7l2 T C 3: 108,116,290 (GRCm39) probably benign Het
AU040320 T C 4: 126,734,936 (GRCm39) F750S possibly damaging Het
B3gnt6 A G 7: 97,842,821 (GRCm39) S380P probably benign Het
Bod1l T C 5: 41,946,215 (GRCm39) Q3020R probably damaging Het
Borcs6 A T 11: 68,950,828 (GRCm39) I69F probably benign Het
Brd7 T A 8: 89,081,340 (GRCm39) M170L probably benign Het
Ccdc191 T A 16: 43,710,581 (GRCm39) probably benign Het
Cit C T 5: 116,064,534 (GRCm39) T472I possibly damaging Het
Ddx25 G T 9: 35,468,685 (GRCm39) D57E probably benign Het
Dnah7a A T 1: 53,674,436 (GRCm39) L447* probably null Het
Epb41l3 A G 17: 69,554,641 (GRCm39) D247G probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etaa1 A T 11: 17,890,254 (GRCm39) V869E probably damaging Het
Exoc8 T A 8: 125,622,769 (GRCm39) I533F probably benign Het
Fam117a A G 11: 95,254,823 (GRCm39) probably null Het
Fam222a C T 5: 114,749,092 (GRCm39) T96I possibly damaging Het
Farsa C T 8: 85,594,228 (GRCm39) T326I probably damaging Het
Fkbp1b T A 12: 4,891,401 (GRCm39) D12V probably damaging Het
Garin3 C A 11: 46,295,695 (GRCm39) Y22* probably null Het
Gc C T 5: 89,589,421 (GRCm39) probably null Het
Git2 T C 5: 114,868,256 (GRCm39) E705G probably damaging Het
Gm10318 G A 10: 77,689,078 (GRCm39) C128Y unknown Het
H3c3 C A 13: 23,929,393 (GRCm39) A30S probably benign Het
Hcar2 G A 5: 124,002,571 (GRCm39) R311* probably null Het
Hira A G 16: 18,746,261 (GRCm39) Q468R possibly damaging Het
Hspa1l T C 17: 35,197,092 (GRCm39) V377A probably damaging Het
Igkv2-137 T A 6: 67,532,659 (GRCm39) W14R probably damaging Het
Itga3 A T 11: 94,953,391 (GRCm39) L317Q probably damaging Het
Jade2 A C 11: 51,715,906 (GRCm39) L433W probably damaging Het
Kif21a T C 15: 90,840,559 (GRCm39) T1186A probably benign Het
Krtap28-10 C A 1: 83,019,894 (GRCm39) C82F unknown Het
Ksr1 G A 11: 78,931,709 (GRCm39) T333M probably damaging Het
Msi1 T C 5: 115,573,598 (GRCm39) F132S probably damaging Het
Myo7b C A 18: 32,099,402 (GRCm39) K1673N probably null Het
Myom3 T A 4: 135,515,255 (GRCm39) N716K Het
Ndst4 G A 3: 125,515,810 (GRCm39) G312R probably damaging Het
Ndufaf2 A G 13: 108,189,316 (GRCm39) V144A probably benign Het
Omd T C 13: 49,743,576 (GRCm39) S209P possibly damaging Het
Or2n1c A G 17: 38,519,304 (GRCm39) H56R probably damaging Het
Or2t47 G C 11: 58,442,209 (GRCm39) N285K probably damaging Het
Or51b17 G A 7: 103,542,816 (GRCm39) T42I probably benign Het
Or51e1 T A 7: 102,359,219 (GRCm39) I251N possibly damaging Het
Or52a24 T C 7: 103,381,220 (GRCm39) I29T probably damaging Het
Or52e3 T C 7: 102,869,393 (GRCm39) L156P possibly damaging Het
Patl1 T A 19: 11,898,760 (GRCm39) Y152N probably damaging Het
Plaur T A 7: 24,164,577 (GRCm39) M27K probably benign Het
Ppfia2 T A 10: 106,694,439 (GRCm39) probably benign Het
Ppfia3 A G 7: 44,990,100 (GRCm39) V1142A probably damaging Het
Psg28 T A 7: 18,156,981 (GRCm39) N418I probably damaging Het
Ptprd A T 4: 75,863,251 (GRCm39) F1237I probably damaging Het
Rbms3 A T 9: 116,524,886 (GRCm39) probably null Het
Rgs18 A G 1: 144,629,566 (GRCm39) V231A probably benign Het
Rnf112 T C 11: 61,343,277 (GRCm39) R156G possibly damaging Het
Rsad1 A C 11: 94,439,010 (GRCm39) V150G probably damaging Het
Rxrg G A 1: 167,462,005 (GRCm39) V350I possibly damaging Het
Sash1 A G 10: 8,626,808 (GRCm39) I192T possibly damaging Het
Slc25a36 G A 9: 96,961,259 (GRCm39) T259I probably benign Het
Smarcd3 T A 5: 24,798,986 (GRCm39) E324V probably null Het
St3gal4 A G 9: 34,966,944 (GRCm39) V2A possibly damaging Het
Stk17b A C 1: 53,796,784 (GRCm39) S328A probably benign Het
Tbrg1 A G 9: 37,563,949 (GRCm39) Y229H probably damaging Het
Tdg A G 10: 82,484,514 (GRCm39) N409S probably benign Het
Terb1 T C 8: 105,212,036 (GRCm39) E315G possibly damaging Het
Tmem131 A G 1: 36,867,228 (GRCm39) F402L probably benign Het
Trav4-2 T C 14: 53,656,190 (GRCm39) I64T probably benign Het
Trav4-4-dv10 A G 14: 53,921,574 (GRCm39) T91A probably benign Het
Xdh C T 17: 74,228,346 (GRCm39) G352R probably damaging Het
Zfp551 C A 7: 12,156,559 (GRCm39) probably benign 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
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
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'- ACCCCTTTCTATAGTCTCAGGGAC -3'
(R):5'- TCAGGCCTGCTTGATTTCAC -3'

Sequencing Primer
(F):5'- TCTCAGGGACTAAGGCCACAG -3'
(R):5'- CACCGTTGTGATACTGTCAGGTATC -3'
Posted On 2021-10-11