Incidental Mutation 'R1610:Ptpn22'
ID 176716
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 039647-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 103767111-103819563 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 103809512 bp (GRCm39)
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

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
SMART Domains Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843

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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign 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
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
R7335:Ptpn22 UTSW 3 103,793,335 (GRCm39) missense probably damaging 0.97
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'- CACCTGTAGCCCTACATTCAGATCCTT -3'
(R):5'- GACAGATGGACTACTATGACAAACAGCC -3'

Sequencing Primer
(F):5'- tgagtgagaagacccccc -3'
(R):5'- AGgagagagagagagagagagag -3'
Posted On 2014-04-24