Incidental Mutation 'R8338:Ptprj'
ID 644717
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 067730-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R8338 (G1)
Quality Score 225.009
Status Not 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: 99.9%
  • 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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache T C 5: 137,290,006 (GRCm39) L445P probably damaging Het
Agrn G A 4: 156,253,018 (GRCm39) T1773I probably benign Het
Arap3 A G 18: 38,106,683 (GRCm39) S1387P probably damaging Het
Bcl11a G C 11: 24,114,578 (GRCm39) K640N probably damaging Het
Bicd1 G A 6: 149,414,621 (GRCm39) V445I probably benign Het
Bltp3a A G 17: 28,095,669 (GRCm39) N26S probably damaging Het
C2cd6 A C 1: 59,099,734 (GRCm39) N402K probably benign Het
Celsr3 C T 9: 108,704,539 (GRCm39) Q341* probably null Het
Cers1 A G 8: 70,783,772 (GRCm39) E240G possibly damaging Het
Cfap157 G T 2: 32,668,018 (GRCm39) T441N possibly damaging Het
Cfap44 G A 16: 44,239,698 (GRCm39) probably null Het
Chd1 A G 17: 15,990,242 (GRCm39) Y1598C probably damaging Het
Ckap2l T G 2: 129,126,939 (GRCm39) Q413P probably damaging Het
Cobl T C 11: 12,203,696 (GRCm39) E1002G probably benign Het
Cryge G A 1: 65,087,933 (GRCm39) T156M unknown Het
Cubn A C 2: 13,435,658 (GRCm39) F1099L probably benign Het
Cyp7b1 T C 3: 18,151,730 (GRCm39) E161G probably benign Het
Dnah10 A G 5: 124,909,566 (GRCm39) E4452G probably damaging Het
Dnah2 C T 11: 69,378,122 (GRCm39) R1273Q probably damaging Het
Dnah3 T C 7: 119,671,104 (GRCm39) E593G probably benign Het
Dnah9 C A 11: 65,732,067 (GRCm39) probably null Het
Dnajc22 C A 15: 98,999,022 (GRCm39) P69Q probably benign Het
Fam171a2 T A 11: 102,329,172 (GRCm39) D529V probably benign Het
Fbxl17 T C 17: 63,663,753 (GRCm39) I579V possibly damaging Het
Fry C T 5: 150,282,516 (GRCm39) T347M probably damaging Het
Gm13272 A C 4: 88,698,364 (GRCm39) D93A probably benign Het
Grm4 A T 17: 27,653,977 (GRCm39) F658I probably damaging Het
Hmcn1 G A 1: 150,614,485 (GRCm39) T1307I probably benign Het
Igkv12-98 G A 6: 68,548,159 (GRCm39) S96N probably benign Het
Il2ra A T 2: 11,687,885 (GRCm39) T222S probably benign Het
Il5ra G T 6: 106,689,350 (GRCm39) T414K probably benign Het
Isg15 T A 4: 156,284,088 (GRCm39) I147F probably benign Het
Kif14 C A 1: 136,422,416 (GRCm39) A902E probably damaging Het
Lcat G A 8: 106,666,719 (GRCm39) R268C probably damaging Het
Lipa T C 19: 34,471,477 (GRCm39) N366S probably benign Het
Lrp4 A G 2: 91,322,713 (GRCm39) T1101A probably benign Het
Man1a T A 10: 53,801,643 (GRCm39) probably null Het
Mib1 A G 18: 10,726,372 (GRCm39) D23G probably benign Het
Morc2b A T 17: 33,355,387 (GRCm39) M795K probably benign Het
Msantd5f1 T A 4: 73,605,435 (GRCm39) M282K possibly damaging Het
Mycbp2 T A 14: 103,372,701 (GRCm39) E4048D probably damaging Het
Myo7b A G 18: 32,104,408 (GRCm39) S1447P probably damaging Het
Myt1 A T 2: 181,443,655 (GRCm39) T536S possibly damaging Het
Nod1 A T 6: 54,920,956 (GRCm39) L454Q probably damaging Het
Nrf1 T A 6: 30,140,247 (GRCm39) W199R Het
Or10w1 T A 19: 13,632,216 (GRCm39) M141K possibly damaging Het
Or13a27 T A 7: 139,925,306 (GRCm39) M199L probably benign Het
Or14c44 T C 7: 86,061,702 (GRCm39) I44T probably benign Het
Or8k27 A T 2: 86,275,729 (GRCm39) M199K probably benign Het
Or9a4 T C 6: 40,548,910 (GRCm39) F197L probably benign Het
Ostn G T 16: 27,143,285 (GRCm39) A38S probably benign Het
Paxbp1 A T 16: 90,833,435 (GRCm39) D266E probably damaging Het
Pcdhb14 G T 18: 37,582,175 (GRCm39) G427V probably damaging Het
Pdzrn3 A T 6: 101,127,783 (GRCm39) M961K probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Prdx5 T C 19: 6,884,632 (GRCm39) D148G probably damaging Het
Rccd1 A T 7: 79,970,618 (GRCm39) L54Q possibly damaging Het
Rfx6 T A 10: 51,594,190 (GRCm39) V370E probably damaging Het
Sdr16c6 C T 4: 4,076,620 (GRCm39) C93Y probably damaging Het
Shroom1 A G 11: 53,354,107 (GRCm39) D9G probably benign Het
Snrpe A G 1: 133,536,681 (GRCm39) V33A probably benign Het
Spats2 T A 15: 99,076,340 (GRCm39) D139E probably damaging Het
Spopfm1 A G 3: 94,173,285 (GRCm39) I94V possibly damaging Het
St18 A G 1: 6,879,516 (GRCm39) E405G probably damaging Het
Strap A T 6: 137,718,976 (GRCm39) E176V possibly damaging Het
Stxbp5l G T 16: 36,994,718 (GRCm39) T729K probably damaging Het
Synj2bp G A 12: 81,551,326 (GRCm39) Q97* probably null Het
Tbc1d32 T A 10: 55,904,173 (GRCm39) Q1198L possibly damaging Het
Tmem98 T C 11: 80,712,135 (GRCm39) S191P probably benign Het
Tnn C T 1: 159,946,053 (GRCm39) G922R probably damaging Het
Treh A G 9: 44,595,808 (GRCm39) N366S probably benign Het
Ttn T G 2: 76,750,136 (GRCm39) S3638R probably benign Het
Uggt1 A G 1: 36,266,602 (GRCm39) L124P probably damaging Het
V1rd19 A T 7: 23,702,674 (GRCm39) K47* probably null Het
Wdhd1 T C 14: 47,506,120 (GRCm39) M265V probably benign Het
Wsb1 T C 11: 79,137,103 (GRCm39) D168G 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
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
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'- ACTTGATATCCAGGACTATGGGATC -3'
(R):5'- TGTCGTCAGCCCAACTAGTG -3'

Sequencing Primer
(F):5'- CCTCGGGCTTTATGGAGAC -3'
(R):5'- GTCAGCCCAACTAGTGTGTTATTAAC -3'
Posted On 2020-09-02