Incidental Mutation 'IGL01373:Ptpn22'
| ID |
84073 |
| 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 # |
IGL01373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103767111-103819563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103793520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 557
(D557V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029433]
[ENSMUST00000146071]
|
| AlphaFold |
P29352 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029433
AA Change: D557V
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: D557V
| 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 |
noncoding transcript
Transcript: ENSMUST00000134373
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146071
AA Change: D557V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: D557V
| 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: ENSMUST00000196385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198701
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
C |
T |
7: 119,310,642 (GRCm39) |
R510* |
probably null |
Het |
| Adamts12 |
A |
T |
15: 11,310,816 (GRCm39) |
E1024D |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,911,335 (GRCm39) |
D1239E |
possibly damaging |
Het |
| Agps |
T |
C |
2: 75,683,128 (GRCm39) |
V151A |
probably benign |
Het |
| Cables1 |
A |
T |
18: 12,021,821 (GRCm39) |
R276S |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,207,578 (GRCm39) |
S64P |
probably damaging |
Het |
| Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
T |
C |
2: 130,236,055 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,731 (GRCm39) |
L3021P |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,354,810 (GRCm39) |
E530G |
possibly damaging |
Het |
| Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,452,701 (GRCm39) |
G98D |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,350 (GRCm39) |
I361V |
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,847,284 (GRCm39) |
H41L |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,574,229 (GRCm39) |
V143A |
probably damaging |
Het |
| Larp7-ps |
A |
G |
4: 92,079,862 (GRCm39) |
V42A |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
| Lpin3 |
G |
T |
2: 160,745,649 (GRCm39) |
D651Y |
probably damaging |
Het |
| Ms4a6b |
A |
T |
19: 11,506,871 (GRCm39) |
H220L |
possibly damaging |
Het |
| Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
| Nxnl2 |
T |
C |
13: 51,325,488 (GRCm39) |
F44L |
probably damaging |
Het |
| Or11g2 |
T |
A |
14: 50,856,069 (GRCm39) |
I130N |
probably damaging |
Het |
| Or2ag16 |
T |
C |
7: 106,351,653 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,639,621 (GRCm39) |
R716W |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
T |
C |
7: 37,921,221 (GRCm39) |
T116A |
probably benign |
Het |
| Psmb2 |
G |
T |
4: 126,580,885 (GRCm39) |
R93L |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,922,916 (GRCm39) |
L42* |
probably null |
Het |
| Rbbp5 |
G |
A |
1: 132,420,339 (GRCm39) |
V191I |
probably benign |
Het |
| Rgs1 |
T |
A |
1: 144,121,116 (GRCm39) |
D185V |
probably damaging |
Het |
| Selenoh |
A |
G |
2: 84,500,938 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
C |
T |
7: 49,567,481 (GRCm39) |
P312S |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,011,454 (GRCm39) |
M40K |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
| Syne2 |
T |
C |
12: 76,033,881 (GRCm39) |
I3710T |
probably damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
| Tex9 |
A |
T |
9: 72,388,036 (GRCm39) |
D134E |
possibly damaging |
Het |
| Ttc41 |
G |
T |
10: 86,611,821 (GRCm39) |
C1063F |
possibly damaging |
Het |
| Usp38 |
C |
A |
8: 81,716,647 (GRCm39) |
A496S |
possibly damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,304,568 (GRCm39) |
Y621F |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
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 |
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation