Incidental Mutation 'R7335:Ptpn22'
ID |
569419 |
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 |
045372-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
R7335 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103767111-103819563 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103793335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 495
(H495Q)
|
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 damaging
Transcript: ENSMUST00000029433
AA Change: H495Q
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029433 Gene: ENSMUSG00000027843 AA Change: H495Q
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 |
possibly damaging
Transcript: ENSMUST00000146071
AA Change: H495Q
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122307 Gene: ENSMUSG00000027843 AA Change: H495Q
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (56/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
A |
G |
11: 50,493,093 (GRCm39) |
S35G |
probably benign |
Het |
Adcy6 |
G |
T |
15: 98,501,757 (GRCm39) |
Q286K |
probably benign |
Het |
Agrn |
A |
G |
4: 156,260,989 (GRCm39) |
S676P |
probably damaging |
Het |
Arpp21 |
A |
T |
9: 112,005,319 (GRCm39) |
|
probably null |
Het |
Bmal2 |
A |
G |
6: 146,711,217 (GRCm39) |
M74V |
probably benign |
Het |
C1rb |
A |
T |
6: 124,552,238 (GRCm39) |
I319F |
possibly damaging |
Het |
C2cd3 |
T |
C |
7: 100,071,810 (GRCm39) |
V629A |
|
Het |
Cacna1i |
T |
G |
15: 80,259,776 (GRCm39) |
F1287C |
probably damaging |
Het |
Catspere2 |
A |
G |
1: 177,926,074 (GRCm39) |
I247V |
probably benign |
Het |
Cd101 |
C |
G |
3: 100,926,045 (GRCm39) |
A229P |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,140,895 (GRCm39) |
D3151G |
probably damaging |
Het |
Cenpc1 |
C |
A |
5: 86,182,212 (GRCm39) |
K557N |
possibly damaging |
Het |
Col6a4 |
G |
A |
9: 105,954,091 (GRCm39) |
T416M |
possibly damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,628,451 (GRCm39) |
C164* |
probably null |
Het |
Dop1b |
A |
G |
16: 93,544,396 (GRCm39) |
E179G |
probably benign |
Het |
Duoxa2 |
A |
T |
2: 122,131,821 (GRCm39) |
Y170F |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,884,829 (GRCm39) |
K2569R |
possibly damaging |
Het |
Fsip2 |
C |
A |
2: 82,813,462 (GRCm39) |
H3260Q |
probably benign |
Het |
Gm3402 |
T |
C |
5: 146,452,043 (GRCm39) |
I121T |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,853,773 (GRCm39) |
H606Q |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,282,169 (GRCm39) |
V1927A |
possibly damaging |
Het |
Hnf4g |
A |
G |
3: 3,717,924 (GRCm39) |
H347R |
possibly damaging |
Het |
Hs3st3a1 |
A |
G |
11: 64,411,163 (GRCm39) |
T234A |
probably benign |
Het |
Hyal1 |
G |
T |
9: 107,456,359 (GRCm39) |
V379L |
probably benign |
Het |
Ighv1-19 |
A |
G |
12: 114,672,571 (GRCm39) |
|
probably benign |
Het |
Iqcc |
T |
A |
4: 129,510,501 (GRCm39) |
Q338L |
not run |
Het |
Kdm5b |
T |
C |
1: 134,488,177 (GRCm39) |
V34A |
probably damaging |
Het |
Lgals4 |
T |
C |
7: 28,540,571 (GRCm39) |
F225L |
probably benign |
Het |
Lmtk3 |
C |
T |
7: 45,444,581 (GRCm39) |
T1088I |
unknown |
Het |
Magel2 |
A |
T |
7: 62,030,524 (GRCm39) |
S1143C |
unknown |
Het |
Mapk4 |
A |
T |
18: 74,070,338 (GRCm39) |
L185Q |
possibly damaging |
Het |
Mtcl2 |
T |
C |
2: 156,872,925 (GRCm39) |
Q862R |
possibly damaging |
Het |
Ncam1 |
A |
G |
9: 49,418,211 (GRCm39) |
S1030P |
|
Het |
Nynrin |
A |
T |
14: 56,101,371 (GRCm39) |
T347S |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,940,219 (GRCm39) |
T532A |
probably damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,607,389 (GRCm39) |
E207G |
probably damaging |
Het |
Pde6h |
T |
C |
6: 136,940,211 (GRCm39) |
W66R |
probably damaging |
Het |
Pmaip1 |
T |
C |
18: 66,591,885 (GRCm39) |
|
probably null |
Het |
Prkd3 |
A |
G |
17: 79,261,995 (GRCm39) |
F774S |
probably damaging |
Het |
Prox1 |
T |
A |
1: 189,894,042 (GRCm39) |
R134S |
possibly damaging |
Het |
Ptprj |
G |
T |
2: 90,271,126 (GRCm39) |
Q1201K |
probably benign |
Het |
Rp1l1 |
A |
G |
14: 64,269,447 (GRCm39) |
S1678G |
probably benign |
Het |
Sez6l |
G |
T |
5: 112,724,678 (GRCm39) |
|
probably null |
Het |
Sgcg |
T |
A |
14: 61,477,816 (GRCm39) |
Y91F |
probably damaging |
Het |
Skint2 |
C |
T |
4: 112,481,415 (GRCm39) |
L93F |
probably damaging |
Het |
Slc22a22 |
A |
T |
15: 57,126,771 (GRCm39) |
D99E |
probably benign |
Het |
Slco3a1 |
A |
G |
7: 73,934,090 (GRCm39) |
I694T |
probably damaging |
Het |
Smurf2 |
A |
T |
11: 106,736,911 (GRCm39) |
I305N |
possibly damaging |
Het |
Stac3 |
T |
A |
10: 127,340,769 (GRCm39) |
V178D |
probably benign |
Het |
Suclg2 |
G |
A |
6: 95,543,444 (GRCm39) |
A329V |
probably damaging |
Het |
Suclg2 |
T |
A |
6: 95,543,441 (GRCm39) |
N330I |
probably damaging |
Het |
Tas2r118 |
C |
T |
6: 23,969,749 (GRCm39) |
C104Y |
probably damaging |
Het |
Tom1l2 |
T |
G |
11: 60,135,991 (GRCm39) |
E327D |
probably benign |
Het |
Trit1 |
T |
C |
4: 122,910,572 (GRCm39) |
M57T |
possibly damaging |
Het |
Vav1 |
G |
A |
17: 57,603,720 (GRCm39) |
S134N |
probably benign |
Het |
Vmn2r82 |
T |
C |
10: 79,214,722 (GRCm39) |
L235P |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,602,379 (GRCm39) |
V441E |
possibly 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 |
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 |
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'- TCCTAGTGCTCTGCCCATAAAC -3'
(R):5'- GGAAGTGGCTCCATCCTGTTTC -3'
Sequencing Primer
(F):5'- TAAACACAGCGGACAGGTATC -3'
(R):5'- CTGTTTCTCAGGCAGATCAAAAGAC -3'
|
Posted On |
2019-09-13 |