Incidental Mutation 'R5579:Ptpn22'
ID 458005
Institutional Source Beutler Lab
Gene Symbol Ptpn22
Ensembl Gene ENSMUSG00000027843
Gene Name protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
Synonyms 70zpep, Ptpn8
MMRRC Submission 043267-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.835) question?
Stock # R5579 (G1)
Quality Score 179
Status Not validated
Chromosome 3
Chromosomal Location 103859795-103912247 bp(+) (GRCm38)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 103882139 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029433] [ENSMUST00000146071]
AlphaFold P29352
PDB Structure Solution structure of the SH3 domain from C-terminal Src Kinase complexed with a peptide from the tyrosine phosphatase PEP [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000029433
SMART Domains Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843

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 probably benign
Transcript: ENSMUST00000146071
SMART Domains Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843

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: ENSMUST00000196385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198701
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik T C 3: 88,700,275 (GRCm38) S345P probably benign Het
6430573F11Rik T C 8: 36,512,041 (GRCm38) V266A probably benign Het
Abca3 G T 17: 24,376,729 (GRCm38) C352F probably damaging Het
Abce1 A T 8: 79,700,586 (GRCm38) I237N possibly damaging Het
Acrbp A G 6: 125,061,099 (GRCm38) D421G probably benign Het
Adam8 T A 7: 139,988,984 (GRCm38) Y201F probably benign Het
Adgrf1 T A 17: 43,311,064 (GRCm38) C731S probably damaging Het
AF067063 T A 13: 119,828,415 (GRCm38) M82L probably benign Het
Akap8l A T 17: 32,321,942 (GRCm38) I529N probably damaging Het
Akap9 G A 5: 4,064,714 (GRCm38) G114D possibly damaging Het
Alox12b T A 11: 69,162,932 (GRCm38) D158E probably benign Het
Ankrd11 A G 8: 122,884,231 (GRCm38) S2639P probably damaging Het
Ankrd42 T C 7: 92,590,182 (GRCm38) Y466C possibly damaging Het
Apobr T C 7: 126,587,675 (GRCm38) I786T probably benign Het
Arhgef12 C T 9: 43,010,193 (GRCm38) G329R probably benign Het
Btnl1 T C 17: 34,381,552 (GRCm38) probably null Het
Ccdc174 A G 6: 91,881,350 (GRCm38) probably null Het
Ccdc183 T C 2: 25,615,422 (GRCm38) D177G possibly damaging Het
Cd14 A G 18: 36,726,235 (GRCm38) Y56H probably benign Het
Cep162 G A 9: 87,203,671 (GRCm38) A1200V probably benign Het
Clic3 T C 2: 25,458,307 (GRCm38) L128P probably damaging Het
Cntnap5b A T 1: 100,383,395 (GRCm38) R538* probably null Het
Cntnap5b A T 1: 100,383,399 (GRCm38) Q539L probably benign Het
Coq7 A T 7: 118,517,335 (GRCm38) N214K unknown Het
Cramp1l G A 17: 24,973,113 (GRCm38) H1018Y possibly damaging Het
Crtac1 T A 19: 42,304,806 (GRCm38) D288V probably damaging Het
Dab2ip C T 2: 35,715,327 (GRCm38) R132* probably null Het
Dis3l C A 9: 64,330,835 (GRCm38) C125F probably benign Het
Dnmt1 A T 9: 20,920,205 (GRCm38) V543D probably damaging Het
Dock9 A T 14: 121,599,695 (GRCm38) L67Q probably damaging Het
Ehbp1 A T 11: 22,137,846 (GRCm38) S413T probably damaging Het
Endov A G 11: 119,505,097 (GRCm38) I158V probably benign Het
Epb41l4b A G 4: 57,064,802 (GRCm38) V469A possibly damaging Het
Etf1 G A 18: 34,913,601 (GRCm38) P119S probably damaging Het
Fam135a A G 1: 24,029,727 (GRCm38) L491P possibly damaging Het
Fancd2 A T 6: 113,560,051 (GRCm38) probably null Het
Fank1 T A 7: 133,869,329 (GRCm38) probably null Het
Fbxo18 A G 2: 11,748,993 (GRCm38) I846T probably damaging Het
Gas2l3 T C 10: 89,414,066 (GRCm38) T397A probably benign Het
Gga1 T C 15: 78,893,188 (GRCm38) V513A probably damaging Het
Ggt1 T C 10: 75,585,948 (GRCm38) V543A probably damaging Het
Gm11596 A T 11: 99,792,891 (GRCm38) C134* probably null Het
Gnal C T 18: 67,088,771 (GRCm38) R82C unknown Het
Hat1 T C 2: 71,410,238 (GRCm38) V92A possibly damaging Het
Icosl C T 10: 78,073,763 (GRCm38) R181C probably damaging Het
Ift46 A G 9: 44,786,863 (GRCm38) M208V possibly damaging Het
Ighv1-26 T C 12: 114,788,599 (GRCm38) K42E possibly damaging Het
Ipo5 A G 14: 120,938,613 (GRCm38) K617E probably benign Het
Irx5 A G 8: 92,359,913 (GRCm38) D208G probably benign Het
Itgal T G 7: 127,306,929 (GRCm38) V397G probably benign Het
Itpr2 G A 6: 146,173,366 (GRCm38) R2297* probably null Het
Itpr3 A G 17: 27,113,519 (GRCm38) D1779G probably damaging Het
Krt4 T A 15: 101,921,234 (GRCm38) E286D probably benign Het
Loxl4 C T 19: 42,604,290 (GRCm38) G317E probably damaging Het
Mapk6 T G 9: 75,388,062 (GRCm38) H718P possibly damaging Het
Mark2 A C 19: 7,282,816 (GRCm38) V14G probably damaging Het
Mbd5 A G 2: 49,272,814 (GRCm38) T1103A possibly damaging Het
Mcph1 A G 8: 18,632,293 (GRCm38) E482G probably benign Het
Mme G A 3: 63,348,645 (GRCm38) E509K probably damaging Het
Mrgbp A G 2: 180,585,483 (GRCm38) T204A probably damaging Het
Mycbp2 A T 14: 103,291,333 (GRCm38) F430I probably damaging Het
Myo6 A G 9: 80,217,720 (GRCm38) D27G probably damaging Het
Ncoa6 A G 2: 155,406,677 (GRCm38) L1569S probably damaging Het
Ndc1 T A 4: 107,380,704 (GRCm38) F235Y possibly damaging Het
Nmur2 A T 11: 56,033,009 (GRCm38) S240T probably benign Het
Olfr1176 A T 2: 88,340,413 (GRCm38) I283F possibly damaging Het
Olfr301 T A 7: 86,412,726 (GRCm38) Y121* probably null Het
Olfr608 G A 7: 103,470,914 (GRCm38) V292M probably damaging Het
Osbpl1a G T 18: 12,841,192 (GRCm38) A62E probably damaging Het
Osbpl1a A C 18: 12,892,262 (GRCm38) S333A probably benign Het
Otud4 C T 8: 79,664,108 (GRCm38) T417I probably benign Het
Pagr1a T C 7: 127,015,442 (GRCm38) E197G probably damaging Het
Pcdh18 T C 3: 49,744,977 (GRCm38) Q1012R probably damaging Het
Pcdhgb5 A C 18: 37,731,637 (GRCm38) I162L probably benign Het
Pdpr T A 8: 111,123,816 (GRCm38) Y462N probably damaging Het
Pkhd1 A T 1: 20,523,142 (GRCm38) H1582Q probably damaging Het
Polr1b A G 2: 129,110,108 (GRCm38) K352R probably damaging Het
Poteg G A 8: 27,448,037 (GRCm38) V12M probably damaging Het
Pou2f1 A C 1: 165,915,162 (GRCm38) V54G probably damaging Het
Ppme1 A G 7: 100,344,975 (GRCm38) L177P probably damaging Het
Prkce A G 17: 86,619,948 (GRCm38) D550G probably damaging Het
Prrc2c A G 1: 162,680,758 (GRCm38) probably null Het
Rabif G A 1: 134,506,205 (GRCm38) V86M probably damaging Het
Rbm25 T A 12: 83,668,507 (GRCm38) M484K probably benign Het
Rcn2 G A 9: 56,057,429 (GRCm38) A224T probably benign Het
Rexo5 T A 7: 119,834,403 (GRCm38) probably null Het
Rnase1 A T 14: 51,145,762 (GRCm38) I45N probably benign Het
Rnmt T A 18: 68,306,115 (GRCm38) D98E possibly damaging Het
Rprd2 A G 3: 95,785,059 (GRCm38) F188L probably damaging Het
Scube2 G A 7: 109,810,737 (GRCm38) T643M probably damaging Het
Slc7a15 T C 12: 8,539,344 (GRCm38) I68V probably benign Het
Slco1a5 A T 6: 142,242,125 (GRCm38) V496D possibly damaging Het
Slitrk6 T G 14: 110,751,217 (GRCm38) S353R possibly damaging Het
Smpd5 T A 15: 76,295,125 (GRCm38) I53K possibly damaging Het
Tas2r108 T C 6: 40,494,087 (GRCm38) S166P probably benign Het
Tecpr1 C A 5: 144,214,344 (GRCm38) V245L possibly damaging Het
Tenm3 G T 8: 48,236,764 (GRCm38) N1929K probably damaging Het
Tigd5 T G 15: 75,911,025 (GRCm38) F412C probably damaging Het
Timm17a A T 1: 135,306,188 (GRCm38) S74T possibly damaging Het
Tle1 A T 4: 72,139,808 (GRCm38) L60Q probably damaging Het
Tmem132d T C 5: 127,796,000 (GRCm38) E515G possibly damaging Het
Tmem65 T C 15: 58,794,397 (GRCm38) N115S probably benign Het
Trmt5 C A 12: 73,281,652 (GRCm38) R259L possibly damaging Het
Ttc37 T C 13: 76,185,200 (GRCm38) W25R probably damaging Het
Vmn2r50 A T 7: 10,050,089 (GRCm38) W153R probably benign Het
Vwa3a T G 7: 120,768,173 (GRCm38) S184A probably benign Het
Zbtb25 A G 12: 76,349,164 (GRCm38) L428P possibly damaging Het
Zbtb49 C T 5: 38,200,816 (GRCm38) D698N probably damaging Het
Zbtb8os T G 4: 129,340,735 (GRCm38) D35E probably damaging Het
Zfp316 T C 5: 143,264,491 (GRCm38) T56A unknown Het
Zfp334 A T 2: 165,380,487 (GRCm38) C545* probably null Het
Zmiz1 C A 14: 25,644,856 (GRCm38) S247R probably damaging Het
Zscan18 A G 7: 12,775,381 (GRCm38) probably benign Het
Zzef1 T C 11: 72,900,637 (GRCm38) V2189A probably damaging Het
Other mutations in Ptpn22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Ptpn22 APN 3 103,903,374 (GRCm38) missense probably benign 0.01
IGL01373:Ptpn22 APN 3 103,886,204 (GRCm38) missense probably damaging 0.99
IGL01943:Ptpn22 APN 3 103,886,336 (GRCm38) missense probably benign 0.02
IGL02092:Ptpn22 APN 3 103,877,321 (GRCm38) missense probably damaging 1.00
IGL02431:Ptpn22 APN 3 103,903,397 (GRCm38) missense probably benign 0.01
IGL02732:Ptpn22 APN 3 103,886,033 (GRCm38) missense probably damaging 0.98
IGL02738:Ptpn22 APN 3 103,874,066 (GRCm38) splice site probably benign
IGL03406:Ptpn22 APN 3 103,912,016 (GRCm38) missense probably benign 0.14
R0490:Ptpn22 UTSW 3 103,886,179 (GRCm38) missense probably damaging 1.00
R0494:Ptpn22 UTSW 3 103,860,455 (GRCm38) missense probably damaging 1.00
R0626:Ptpn22 UTSW 3 103,860,405 (GRCm38) start codon destroyed probably null 1.00
R0743:Ptpn22 UTSW 3 103,902,171 (GRCm38) missense probably damaging 1.00
R1441:Ptpn22 UTSW 3 103,874,247 (GRCm38) missense probably damaging 1.00
R1610:Ptpn22 UTSW 3 103,902,196 (GRCm38) splice site probably null
R1698:Ptpn22 UTSW 3 103,885,798 (GRCm38) missense probably benign 0.20
R1785:Ptpn22 UTSW 3 103,874,052 (GRCm38) missense probably damaging 0.99
R1786:Ptpn22 UTSW 3 103,874,052 (GRCm38) missense probably damaging 0.99
R1919:Ptpn22 UTSW 3 103,876,738 (GRCm38) critical splice donor site probably null
R2045:Ptpn22 UTSW 3 103,874,021 (GRCm38) missense possibly damaging 0.61
R3977:Ptpn22 UTSW 3 103,873,641 (GRCm38) splice site probably benign
R4176:Ptpn22 UTSW 3 103,886,245 (GRCm38) missense probably benign 0.00
R4478:Ptpn22 UTSW 3 103,902,064 (GRCm38) intron probably benign
R5093:Ptpn22 UTSW 3 103,882,102 (GRCm38) missense probably benign 0.39
R6022:Ptpn22 UTSW 3 103,886,105 (GRCm38) missense probably benign 0.00
R6110:Ptpn22 UTSW 3 103,912,015 (GRCm38) missense probably damaging 0.96
R6387:Ptpn22 UTSW 3 103,885,386 (GRCm38) missense probably benign 0.18
R7335:Ptpn22 UTSW 3 103,886,019 (GRCm38) missense probably damaging 0.97
R7516:Ptpn22 UTSW 3 103,885,538 (GRCm38) missense probably benign 0.16
R7523:Ptpn22 UTSW 3 103,912,015 (GRCm38) missense probably damaging 0.96
R7583:Ptpn22 UTSW 3 103,902,114 (GRCm38) missense probably benign 0.11
R8129:Ptpn22 UTSW 3 103,890,284 (GRCm38) critical splice donor site probably null
R8141:Ptpn22 UTSW 3 103,886,327 (GRCm38) missense possibly damaging 0.67
R9039:Ptpn22 UTSW 3 103,912,235 (GRCm38) unclassified probably benign
R9511:Ptpn22 UTSW 3 103,885,597 (GRCm38) missense probably benign 0.37
R9790:Ptpn22 UTSW 3 103,888,526 (GRCm38) missense possibly damaging 0.60
R9791:Ptpn22 UTSW 3 103,888,526 (GRCm38) missense possibly damaging 0.60
Z1177:Ptpn22 UTSW 3 103,885,700 (GRCm38) missense probably benign 0.35
Predicted Primers
Posted On 2017-02-16