Incidental Mutation 'IGL02999:Ptpn2'
| ID |
407246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpn2
|
| Ensembl Gene |
ENSMUSG00000024539 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 2 |
| Synonyms |
Ptpt, TC-PTP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
67798581-67857665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67814580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 143
(V143A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025420]
[ENSMUST00000120934]
[ENSMUST00000122412]
|
| AlphaFold |
Q06180 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025420
AA Change: V143A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025420
Gene: ENSMUSG00000024539
AA Change: V143A
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
17 |
277 |
2.56e-115 |
SMART |
|
Blast:PTPc
|
287 |
376 |
7e-38 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120934
AA Change: V143A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113182
Gene: ENSMUSG00000024539
AA Change: V143A
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
17 |
277 |
2.56e-115 |
SMART |
|
Blast:PTPc
|
284 |
357 |
2e-27 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122412
AA Change: V143A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112675
Gene: ENSMUSG00000024539
AA Change: V143A
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc
|
17 |
277 |
2.56e-115 |
SMART |
|
Blast:PTPc
|
287 |
399 |
9e-56 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128169
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a reduced life span, abnormalities of the hematopoietic system and an increased succeptibility to inflammatory disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
Het |
|
| Other mutations in Ptpn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Ptpn2
|
APN |
18 |
67,808,862 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01538:Ptpn2
|
APN |
18 |
67,814,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2075:Ptpn2
|
UTSW |
18 |
67,814,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2273:Ptpn2
|
UTSW |
18 |
67,810,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2391:Ptpn2
|
UTSW |
18 |
67,808,959 (GRCm39) |
splice site |
probably null |
|
|
R6909:Ptpn2
|
UTSW |
18 |
67,809,041 (GRCm39) |
splice site |
probably null |
|
|
R7251:Ptpn2
|
UTSW |
18 |
67,808,862 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7979:Ptpn2
|
UTSW |
18 |
67,814,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8418:Ptpn2
|
UTSW |
18 |
67,814,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8771:Ptpn2
|
UTSW |
18 |
67,805,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9469:Ptpn2
|
UTSW |
18 |
67,808,907 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9634:Ptpn2
|
UTSW |
18 |
67,808,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation