Incidental Mutation 'IGL03406:Ptpn22'
| ID |
421593 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpn22
|
| Ensembl Gene |
ENSMUSG00000027843 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 22 (lymphoid) |
| Synonyms |
Ptpn8, 70zpep |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.845)
|
| Stock # |
IGL03406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103767111-103819563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 103819332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 795
(N795K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029433]
[ENSMUST00000051139]
[ENSMUST00000068879]
[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 benign
Transcript: ENSMUST00000029433
AA Change: N795K
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: N795K
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000051139
|
| SMART Domains |
Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068879
|
| SMART Domains |
Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146071
|
| SMART Domains |
Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000151927
|
| SMART Domains |
Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
214 |
N/A |
INTRINSIC |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530016L24Rik |
T |
A |
12: 112,463,317 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
C |
T |
8: 89,044,947 (GRCm39) |
R228* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,014,378 (GRCm39) |
H132R |
probably benign |
Het |
| Cfap107 |
A |
G |
4: 144,150,414 (GRCm39) |
Y56H |
probably damaging |
Het |
| Cyp4a32 |
T |
C |
4: 115,459,500 (GRCm39) |
I78T |
probably benign |
Het |
| Fap |
A |
T |
2: 62,372,466 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
C |
T |
10: 99,280,641 (GRCm39) |
|
noncoding transcript |
Het |
| Gli3 |
T |
C |
13: 15,823,166 (GRCm39) |
I296T |
probably damaging |
Het |
| H2-Q2 |
T |
C |
17: 35,561,801 (GRCm39) |
V97A |
probably benign |
Het |
| Hr |
T |
A |
14: 70,800,860 (GRCm39) |
|
probably null |
Het |
| Itgax |
C |
T |
7: 127,748,370 (GRCm39) |
T1133I |
possibly damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,566,194 (GRCm39) |
R339H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,873,615 (GRCm39) |
K1726E |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,203,483 (GRCm39) |
Y528H |
probably benign |
Het |
| Nmnat3 |
G |
A |
9: 98,281,530 (GRCm39) |
G44D |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,044 (GRCm39) |
D366V |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,424 (GRCm39) |
L68M |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 110,091,125 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,549,739 (GRCm39) |
V289D |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,177,408 (GRCm39) |
D40G |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,875,310 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcad1 |
T |
A |
6: 65,069,510 (GRCm39) |
F530Y |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,747,684 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,415,598 (GRCm39) |
I379N |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,567 (GRCm39) |
N39S |
probably benign |
Het |
| Ubash3b |
T |
A |
9: 40,948,775 (GRCm39) |
Y180F |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,556 (GRCm39) |
T366A |
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,514,450 (GRCm39) |
C419S |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,281 (GRCm39) |
T345A |
probably benign |
Het |
|
| Other mutations in Ptpn22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation