Incidental Mutation 'R7335:Ptpn22'
ID 569419
Institutional Source Beutler Lab
Gene Symbol Ptpn22
Ensembl Gene ENSMUSG00000027843
Gene Name protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
Synonyms Ptpn8, 70zpep
MMRRC Submission 045372-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R7335 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 103767111-103819563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103793335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 495 (H495Q)
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 damaging
Transcript: ENSMUST00000029433
AA Change: H495Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: H495Q

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 possibly damaging
Transcript: ENSMUST00000146071
AA Change: H495Q

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: H495Q

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
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.] 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: 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
Ptprj G T 2: 90,271,126 (GRCm39) Q1201K probably benign 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 Ptpn22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Ptpn22 APN 3 103,810,690 (GRCm39) missense probably benign 0.01
IGL01373:Ptpn22 APN 3 103,793,520 (GRCm39) missense probably damaging 0.99
IGL01943:Ptpn22 APN 3 103,793,652 (GRCm39) missense probably benign 0.02
IGL02092:Ptpn22 APN 3 103,784,637 (GRCm39) missense probably damaging 1.00
IGL02431:Ptpn22 APN 3 103,810,713 (GRCm39) missense probably benign 0.01
IGL02732:Ptpn22 APN 3 103,793,349 (GRCm39) missense probably damaging 0.98
IGL02738:Ptpn22 APN 3 103,781,382 (GRCm39) splice site probably benign
IGL03406:Ptpn22 APN 3 103,819,332 (GRCm39) missense probably benign 0.14
R0490:Ptpn22 UTSW 3 103,793,495 (GRCm39) missense probably damaging 1.00
R0494:Ptpn22 UTSW 3 103,767,771 (GRCm39) missense probably damaging 1.00
R0626:Ptpn22 UTSW 3 103,767,721 (GRCm39) start codon destroyed probably null 1.00
R0743:Ptpn22 UTSW 3 103,809,487 (GRCm39) missense probably damaging 1.00
R1441:Ptpn22 UTSW 3 103,781,563 (GRCm39) missense probably damaging 1.00
R1610:Ptpn22 UTSW 3 103,809,512 (GRCm39) splice site probably null
R1698:Ptpn22 UTSW 3 103,793,114 (GRCm39) missense probably benign 0.20
R1785:Ptpn22 UTSW 3 103,781,368 (GRCm39) missense probably damaging 0.99
R1786:Ptpn22 UTSW 3 103,781,368 (GRCm39) missense probably damaging 0.99
R1919:Ptpn22 UTSW 3 103,784,054 (GRCm39) critical splice donor site probably null
R2045:Ptpn22 UTSW 3 103,781,337 (GRCm39) missense possibly damaging 0.61
R3977:Ptpn22 UTSW 3 103,780,957 (GRCm39) splice site probably benign
R4176:Ptpn22 UTSW 3 103,793,561 (GRCm39) missense probably benign 0.00
R4478:Ptpn22 UTSW 3 103,809,380 (GRCm39) intron probably benign
R5093:Ptpn22 UTSW 3 103,789,418 (GRCm39) missense probably benign 0.39
R5579:Ptpn22 UTSW 3 103,789,455 (GRCm39) splice site probably null
R6022:Ptpn22 UTSW 3 103,793,421 (GRCm39) missense probably benign 0.00
R6110:Ptpn22 UTSW 3 103,819,331 (GRCm39) missense probably damaging 0.96
R6387:Ptpn22 UTSW 3 103,792,702 (GRCm39) missense probably benign 0.18
R7516:Ptpn22 UTSW 3 103,792,854 (GRCm39) missense probably benign 0.16
R7523:Ptpn22 UTSW 3 103,819,331 (GRCm39) missense probably damaging 0.96
R7583:Ptpn22 UTSW 3 103,809,430 (GRCm39) missense probably benign 0.11
R8129:Ptpn22 UTSW 3 103,797,600 (GRCm39) critical splice donor site probably null
R8141:Ptpn22 UTSW 3 103,793,643 (GRCm39) missense possibly damaging 0.67
R9039:Ptpn22 UTSW 3 103,819,551 (GRCm39) unclassified probably benign
R9511:Ptpn22 UTSW 3 103,792,913 (GRCm39) missense probably benign 0.37
R9790:Ptpn22 UTSW 3 103,795,842 (GRCm39) missense possibly damaging 0.60
R9791:Ptpn22 UTSW 3 103,795,842 (GRCm39) missense possibly damaging 0.60
Z1177:Ptpn22 UTSW 3 103,793,016 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- TCCTAGTGCTCTGCCCATAAAC -3'
(R):5'- GGAAGTGGCTCCATCCTGTTTC -3'

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