Incidental Mutation 'IGL02431:Ptpn22'
ID293130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn22
Ensembl Gene ENSMUSG00000027843
Gene Nameprotein tyrosine phosphatase, non-receptor type 22 (lymphoid)
Synonyms70zpep, Ptpn8
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.451) question?
Stock #IGL02431
Quality Score
Status
Chromosome3
Chromosomal Location103859795-103912247 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 103903397 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 713 (F713L)
Ref Sequence ENSEMBL: ENSMUSP00000122307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029433] [ENSMUST00000146071]
Predicted Effect probably benign
Transcript: ENSMUST00000029433
AA Change: S716Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: S716Y

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
PTPc 23 291 3.32e-123 SMART
Blast:PTPc 305 502 2e-65 BLAST
PDB:1JEG|B 605 629 2e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134373
Predicted Effect probably benign
Transcript: ENSMUST00000146071
AA Change: F713L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: F713L

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
PTPc 23 291 3.32e-123 SMART
Blast:PTPc 305 502 9e-66 BLAST
internal_repeat_1 567 629 1.92e-7 PROSPERO
internal_repeat_1 651 705 1.92e-7 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198701
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice display antigen dependent increases in T cell proliferation and cytokine production, enlarged spleens and lymph nodes, increased spontaneous germinal center formation, increased B cell numbers, and increased serum IgG and IgE levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik T C 14: 8,659,424 N57S probably damaging Het
Abca17 T A 17: 24,298,984 I784L probably benign Het
Abcc1 T A 16: 14,419,734 V473E probably damaging Het
Agap3 A G 5: 24,501,012 E758G probably damaging Het
C6 A T 15: 4,759,861 K263* probably null Het
Cep78 T C 19: 15,959,579 T588A probably benign Het
Col4a3 C T 1: 82,679,623 Q815* probably null Het
Dcaf10 A G 4: 45,342,630 M155V probably benign Het
Fam208b A G 13: 3,574,736 V1738A possibly damaging Het
Fam228b T C 12: 4,762,370 Y136C probably damaging Het
Fryl A T 5: 73,098,308 H793Q probably benign Het
Gm10134 T C 2: 28,506,417 probably benign Het
Gm6505 T C 3: 28,765,020 noncoding transcript Het
Il31ra A G 13: 112,530,296 F416S probably damaging Het
Lipc A G 9: 70,934,468 probably benign Het
Lrp4 A G 2: 91,476,637 K368E possibly damaging Het
Lrriq1 A T 10: 103,200,639 N884K probably damaging Het
Mrgprx1 T C 7: 48,021,127 R291G probably benign Het
Myo15 T A 11: 60,510,639 V3057E possibly damaging Het
Olfr738 T A 14: 50,413,769 I75N probably damaging Het
Olfr761 T A 17: 37,952,522 R167S probably benign Het
Postn A T 3: 54,375,096 I493F probably damaging Het
Pygm T C 19: 6,388,118 V239A probably damaging Het
Rangrf C A 11: 68,972,739 C147F probably benign Het
Rnf112 C T 11: 61,450,379 R460H probably benign Het
Sh3d19 A G 3: 86,106,998 E423G probably damaging Het
Tipin A G 9: 64,301,185 K204E probably benign Het
Traf3ip1 A T 1: 91,499,635 Q109L unknown Het
Ttc21b A T 2: 66,251,885 probably benign Het
Ttn C A 2: 76,974,116 A271S probably benign Het
Vegfb C A 19: 6,986,018 probably null Het
Vmn1r15 T A 6: 57,258,903 L252H possibly damaging Het
Wipi1 A T 11: 109,603,791 V72D probably damaging Het
Zmym1 G A 4: 127,047,764 Q944* probably null Het
Other mutations in Ptpn22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Ptpn22 APN 3 103903374 missense probably benign 0.01
IGL01373:Ptpn22 APN 3 103886204 missense probably damaging 0.99
IGL01943:Ptpn22 APN 3 103886336 missense probably benign 0.02
IGL02092:Ptpn22 APN 3 103877321 missense probably damaging 1.00
IGL02732:Ptpn22 APN 3 103886033 missense probably damaging 0.98
IGL02738:Ptpn22 APN 3 103874066 splice site probably benign
IGL03406:Ptpn22 APN 3 103912016 missense probably benign 0.14
R0490:Ptpn22 UTSW 3 103886179 missense probably damaging 1.00
R0494:Ptpn22 UTSW 3 103860455 missense probably damaging 1.00
R0626:Ptpn22 UTSW 3 103860405 start codon destroyed probably null 1.00
R0743:Ptpn22 UTSW 3 103902171 missense probably damaging 1.00
R1441:Ptpn22 UTSW 3 103874247 missense probably damaging 1.00
R1610:Ptpn22 UTSW 3 103902196 splice site probably null
R1698:Ptpn22 UTSW 3 103885798 missense probably benign 0.20
R1785:Ptpn22 UTSW 3 103874052 missense probably damaging 0.99
R1786:Ptpn22 UTSW 3 103874052 missense probably damaging 0.99
R1919:Ptpn22 UTSW 3 103876738 critical splice donor site probably null
R2045:Ptpn22 UTSW 3 103874021 missense possibly damaging 0.61
R3977:Ptpn22 UTSW 3 103873641 splice site probably benign
R4176:Ptpn22 UTSW 3 103886245 missense probably benign 0.00
R4478:Ptpn22 UTSW 3 103902064 intron probably benign
R5093:Ptpn22 UTSW 3 103882102 missense probably benign 0.39
R5579:Ptpn22 UTSW 3 103882139 splice site probably null
R6022:Ptpn22 UTSW 3 103886105 missense probably benign 0.00
R6110:Ptpn22 UTSW 3 103912015 missense probably damaging 0.96
R6387:Ptpn22 UTSW 3 103885386 missense probably benign 0.18
R7335:Ptpn22 UTSW 3 103886019 missense probably damaging 0.97
R7516:Ptpn22 UTSW 3 103885538 missense probably benign 0.16
R7523:Ptpn22 UTSW 3 103912015 missense probably damaging 0.96
R7583:Ptpn22 UTSW 3 103902114 missense probably benign 0.11
R8129:Ptpn22 UTSW 3 103890284 critical splice donor site probably null
R8141:Ptpn22 UTSW 3 103886327 missense possibly damaging 0.67
Z1177:Ptpn22 UTSW 3 103885700 missense probably benign 0.35
Posted On2015-04-16