Incidental Mutation 'IGL02431:Ptpn22'
ID |
293130 |
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 # |
IGL02431
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103767111-103819563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 103810713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 713
(F713L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029433]
[ENSMUST00000146071]
|
AlphaFold |
P29352 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029433
AA Change: S716Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029433 Gene: ENSMUSG00000027843 AA Change: S716Y
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: ENSMUST00000116162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126548
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134373
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146071
AA Change: F713L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000122307 Gene: ENSMUSG00000027843 AA Change: F713L
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: 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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
A |
17: 24,517,958 (GRCm39) |
I784L |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,237,598 (GRCm39) |
V473E |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,706,010 (GRCm39) |
E758G |
probably damaging |
Het |
C6 |
A |
T |
15: 4,789,343 (GRCm39) |
K263* |
probably null |
Het |
Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,659,424 (GRCm38) |
N57S |
probably damaging |
Het |
Col4a3 |
C |
T |
1: 82,657,344 (GRCm39) |
Q815* |
probably null |
Het |
Dcaf10 |
A |
G |
4: 45,342,630 (GRCm39) |
M155V |
probably benign |
Het |
Fam228b |
T |
C |
12: 4,812,370 (GRCm39) |
Y136C |
probably damaging |
Het |
Fryl |
A |
T |
5: 73,255,651 (GRCm39) |
H793Q |
probably benign |
Het |
Gm10134 |
T |
C |
2: 28,396,429 (GRCm39) |
|
probably benign |
Het |
Gm6505 |
T |
C |
3: 28,819,169 (GRCm39) |
|
noncoding transcript |
Het |
Il31ra |
A |
G |
13: 112,666,830 (GRCm39) |
F416S |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,841,750 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,306,982 (GRCm39) |
K368E |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 103,036,500 (GRCm39) |
N884K |
probably damaging |
Het |
Mrgprx1 |
T |
C |
7: 47,670,875 (GRCm39) |
R291G |
probably benign |
Het |
Myo15a |
T |
A |
11: 60,401,465 (GRCm39) |
V3057E |
possibly damaging |
Het |
Or11g1 |
T |
A |
14: 50,651,226 (GRCm39) |
I75N |
probably damaging |
Het |
Or14j8 |
T |
A |
17: 38,263,413 (GRCm39) |
R167S |
probably benign |
Het |
Postn |
A |
T |
3: 54,282,517 (GRCm39) |
I493F |
probably damaging |
Het |
Pygm |
T |
C |
19: 6,438,148 (GRCm39) |
V239A |
probably damaging |
Het |
Rangrf |
C |
A |
11: 68,863,565 (GRCm39) |
C147F |
probably benign |
Het |
Rnf112 |
C |
T |
11: 61,341,205 (GRCm39) |
R460H |
probably benign |
Het |
Sh3d19 |
A |
G |
3: 86,014,305 (GRCm39) |
E423G |
probably damaging |
Het |
Tasor2 |
A |
G |
13: 3,624,736 (GRCm39) |
V1738A |
possibly damaging |
Het |
Tipin |
A |
G |
9: 64,208,467 (GRCm39) |
K204E |
probably benign |
Het |
Traf3ip1 |
A |
T |
1: 91,427,357 (GRCm39) |
Q109L |
unknown |
Het |
Ttc21b |
A |
T |
2: 66,082,229 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
A |
2: 76,804,460 (GRCm39) |
A271S |
probably benign |
Het |
Vegfb |
C |
A |
19: 6,963,386 (GRCm39) |
|
probably null |
Het |
Vmn1r15 |
T |
A |
6: 57,235,888 (GRCm39) |
L252H |
possibly damaging |
Het |
Wipi1 |
A |
T |
11: 109,494,617 (GRCm39) |
V72D |
probably damaging |
Het |
Zmym1 |
G |
A |
4: 126,941,557 (GRCm39) |
Q944* |
probably null |
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 |
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 |