Incidental Mutation 'IGL02282:Ptpn7'
| ID |
289890 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpn7
|
| Ensembl Gene |
ENSMUSG00000031506 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 7 |
| Synonyms |
LC-PTP, BPTP-4, C920001D21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
135060438-135073055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135062572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 104
(I104V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049449]
[ENSMUST00000167080]
[ENSMUST00000187985]
|
| AlphaFold |
Q8BUM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049449
AA Change: I104V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045803
Gene: ENSMUSG00000031506
AA Change: I104V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
34 |
N/A |
INTRINSIC |
|
PTPc
|
96 |
351 |
2.3e-117 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167080
AA Change: I104V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129474
Gene: ENSMUSG00000031506
AA Change: I104V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
34 |
N/A |
INTRINSIC |
|
PTPc
|
96 |
351 |
2.3e-117 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183328
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187985
AA Change: I104V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141133
Gene: ENSMUSG00000031506
AA Change: I104V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
34 |
N/A |
INTRINSIC |
|
PTPc
|
96 |
351 |
2.3e-117 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188478
|
| 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. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [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 |
|---|
| Ahnak |
A |
G |
19: 8,983,351 (GRCm39) |
D1545G |
probably damaging |
Het |
| Baiap3 |
A |
C |
17: 25,468,351 (GRCm39) |
D234E |
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,175,054 (GRCm39) |
P1730S |
probably benign |
Het |
| Cand1 |
T |
A |
10: 119,046,614 (GRCm39) |
T959S |
probably benign |
Het |
| Ctdspl2 |
A |
G |
2: 121,807,959 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,008,472 (GRCm39) |
M205L |
probably benign |
Het |
| Dlx5 |
G |
A |
6: 6,881,762 (GRCm39) |
A42V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,682,669 (GRCm39) |
I267T |
possibly damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,957,416 (GRCm39) |
D66G |
probably damaging |
Het |
| Fgf8 |
T |
C |
19: 45,725,529 (GRCm39) |
H201R |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,689 (GRCm39) |
K460E |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,826 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,878,697 (GRCm39) |
G17D |
probably damaging |
Het |
| Il4 |
G |
A |
11: 53,509,001 (GRCm39) |
T59M |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,125,924 (GRCm39) |
|
probably null |
Het |
| Mill1 |
G |
T |
7: 17,997,129 (GRCm39) |
|
probably null |
Het |
| Npbwr1 |
A |
T |
1: 5,987,184 (GRCm39) |
M110K |
possibly damaging |
Het |
| Opalin |
A |
T |
19: 41,054,943 (GRCm39) |
S84T |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,632,622 (GRCm39) |
D276E |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,352,914 (GRCm39) |
Y235C |
probably benign |
Het |
| Or8b35 |
A |
T |
9: 37,904,318 (GRCm39) |
I177F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,881 (GRCm39) |
L737P |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,795,743 (GRCm39) |
S626L |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,919,322 (GRCm39) |
D435G |
probably damaging |
Het |
| Prss37 |
A |
G |
6: 40,492,317 (GRCm39) |
V178A |
possibly damaging |
Het |
| Ptprn |
A |
G |
1: 75,229,800 (GRCm39) |
Y700H |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,534 (GRCm39) |
T555S |
probably damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,020,614 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,539,026 (GRCm39) |
R41H |
probably damaging |
Het |
| Rps3 |
A |
G |
7: 99,128,479 (GRCm39) |
|
probably null |
Het |
| Ruvbl2 |
G |
A |
7: 45,074,589 (GRCm39) |
T183I |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,589,284 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,111,114 (GRCm39) |
Y53D |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,453 (GRCm39) |
K247I |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,834 (GRCm39) |
I236F |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,022,081 (GRCm39) |
I1168T |
probably damaging |
Het |
| Ttc9b |
A |
T |
7: 27,355,336 (GRCm39) |
D202V |
probably damaging |
Het |
| Vmn2r26 |
T |
G |
6: 124,038,584 (GRCm39) |
C720G |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,209,761 (GRCm39) |
S584P |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,601 (GRCm39) |
D1208V |
probably damaging |
Het |
| Zfp988 |
T |
A |
4: 147,416,125 (GRCm39) |
C186* |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,013,205 (GRCm39) |
N179S |
possibly damaging |
Het |
|
| Other mutations in Ptpn7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02894:Ptpn7
|
APN |
1 |
135,070,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0486:Ptpn7
|
UTSW |
1 |
135,065,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0708:Ptpn7
|
UTSW |
1 |
135,062,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Ptpn7
|
UTSW |
1 |
135,062,192 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1505:Ptpn7
|
UTSW |
1 |
135,062,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1729:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1730:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1739:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1762:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1783:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1784:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1893:Ptpn7
|
UTSW |
1 |
135,062,641 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4834:Ptpn7
|
UTSW |
1 |
135,065,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5015:Ptpn7
|
UTSW |
1 |
135,066,877 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5381:Ptpn7
|
UTSW |
1 |
135,070,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5702:Ptpn7
|
UTSW |
1 |
135,061,582 (GRCm39) |
missense |
probably benign |
|
|
R6422:Ptpn7
|
UTSW |
1 |
135,062,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6736:Ptpn7
|
UTSW |
1 |
135,066,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8387:Ptpn7
|
UTSW |
1 |
135,061,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8874:Ptpn7
|
UTSW |
1 |
135,067,004 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1176:Ptpn7
|
UTSW |
1 |
135,062,249 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2015-04-16 |
Incidental Mutation