Incidental Mutation 'R6022:Ptpn22'
| ID |
478985 |
| 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 |
043256-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.845)
|
| Stock # |
R6022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103767111-103819563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103793421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 524
(V524E)
|
| 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: V524E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: V524E
| 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 benign
Transcript: ENSMUST00000146071
AA Change: V524E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: V524E
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| 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 |
|---|
| Abca13 |
T |
G |
11: 9,240,759 (GRCm39) |
F874C |
probably damaging |
Het |
| Adam9 |
T |
C |
8: 25,493,321 (GRCm39) |
T96A |
possibly damaging |
Het |
| Arhgef26 |
C |
T |
3: 62,336,360 (GRCm39) |
T633M |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,095,607 (GRCm39) |
|
probably null |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,715,709 (GRCm39) |
F158I |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 17,598,035 (GRCm39) |
I41V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,801,584 (GRCm39) |
K915* |
probably null |
Het |
| Dock4 |
T |
C |
12: 40,798,109 (GRCm39) |
V911A |
probably benign |
Het |
| Dok5 |
A |
G |
2: 170,721,142 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dpysl4 |
A |
T |
7: 138,666,000 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
A |
C |
18: 20,099,395 (GRCm39) |
V707G |
probably damaging |
Het |
| Endog |
A |
G |
2: 30,062,921 (GRCm39) |
Y187C |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,363,070 (GRCm39) |
T526A |
probably benign |
Het |
| Gcat |
T |
C |
15: 78,926,478 (GRCm39) |
V116A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,390,967 (GRCm39) |
D3975G |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,590,086 (GRCm39) |
|
probably null |
Het |
| Kif1b |
T |
C |
4: 149,282,989 (GRCm39) |
I1273V |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,051,395 (GRCm39) |
N452K |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,503,429 (GRCm39) |
E296G |
probably damaging |
Het |
| Marco |
G |
A |
1: 120,416,294 (GRCm39) |
L208F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,272,218 (GRCm39) |
W606R |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,984,174 (GRCm39) |
S647P |
probably damaging |
Het |
| Prx |
A |
G |
7: 27,216,998 (GRCm39) |
K500E |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,301,667 (GRCm39) |
I155K |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,523 (GRCm39) |
E815G |
probably damaging |
Het |
| Rnf150 |
T |
C |
8: 83,769,358 (GRCm39) |
V381A |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,376,836 (GRCm39) |
K5103R |
probably benign |
Het |
| Speer4a2 |
T |
G |
5: 26,289,677 (GRCm39) |
E250A |
probably benign |
Het |
| Tecpr1 |
A |
T |
5: 144,136,009 (GRCm39) |
W961R |
possibly damaging |
Het |
| Tnn |
A |
T |
1: 159,937,928 (GRCm39) |
D932E |
probably benign |
Het |
| Tram2 |
G |
A |
1: 21,149,361 (GRCm39) |
|
probably benign |
Het |
| Trbv26 |
T |
A |
6: 41,204,509 (GRCm39) |
|
probably benign |
Het |
| Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
| Ttk |
T |
C |
9: 83,721,375 (GRCm39) |
Y87H |
probably damaging |
Het |
| Uri1 |
A |
T |
7: 37,660,902 (GRCm39) |
|
probably benign |
Het |
| Vmn1r173 |
A |
G |
7: 23,402,260 (GRCm39) |
D165G |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,476,618 (GRCm39) |
S494P |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,419 (GRCm39) |
N513I |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCAAATCAACTCCCTTTG -3'
(R):5'- ATCACTAGGGAGTCGTGTGG -3'
Sequencing Primer
(F):5'- CCCTTTGAACTGATTCAGCAGAG -3'
(R):5'- TCGTGTGGGTTGCTATAAAAGAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation