Incidental Mutation 'IGL02092:Ptpn22'
| ID |
279445 |
| 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: 0.879)
|
| Stock # |
IGL02092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103767111-103819563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103784637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 234
(T234A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029433]
[ENSMUST00000146071]
|
| AlphaFold |
P29352 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029433
AA Change: T234A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: T234A
| 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 damaging
Transcript: ENSMUST00000146071
AA Change: T234A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: T234A
| 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 |
noncoding transcript
Transcript: ENSMUST00000197997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198530
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010H22Rik |
T |
A |
5: 98,714,627 (GRCm39) |
|
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,979 (GRCm39) |
R238S |
probably benign |
Het |
| Cdc42bpg |
C |
A |
19: 6,366,856 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
T |
C |
8: 105,776,962 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,211,137 (GRCm39) |
F517S |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,044,869 (GRCm39) |
E201G |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,693,140 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,059,260 (GRCm39) |
N611K |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,927 (GRCm39) |
N114K |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,415,334 (GRCm39) |
T135A |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,416 (GRCm39) |
K155E |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,286,948 (GRCm39) |
L609S |
probably damaging |
Het |
| Kcp |
C |
A |
6: 29,489,031 (GRCm39) |
|
probably null |
Het |
| Map4k4 |
A |
G |
1: 40,025,943 (GRCm39) |
K311R |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,063,508 (GRCm39) |
K1228E |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,642 (GRCm39) |
S245F |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,774,187 (GRCm39) |
L159S |
possibly damaging |
Het |
| Or7g33 |
T |
A |
9: 19,449,046 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8b36 |
T |
G |
9: 37,937,917 (GRCm39) |
S272A |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,136,360 (GRCm39) |
M892T |
probably benign |
Het |
| Sema4g |
G |
A |
19: 44,981,078 (GRCm39) |
|
probably null |
Het |
| Slc35a3 |
A |
G |
3: 116,474,781 (GRCm39) |
S204P |
probably damaging |
Het |
| Speer4f2 |
C |
T |
5: 17,581,627 (GRCm39) |
Q190* |
probably null |
Het |
| Szt2 |
A |
G |
4: 118,220,529 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,380,900 (GRCm39) |
Y104H |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,120 (GRCm39) |
E173G |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,749,695 (GRCm39) |
I8T |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,136,905 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
T |
C |
8: 46,448,701 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
T |
C |
8: 48,317,570 (GRCm39) |
D669G |
unknown |
Het |
| Zfp940 |
T |
C |
7: 29,545,626 (GRCm39) |
T94A |
probably benign |
Het |
| Zfp947 |
T |
G |
17: 22,366,477 (GRCm39) |
D17A |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation