Incidental Mutation 'IGL01090:Ptpn3'
| ID |
50882 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpn3
|
| Ensembl Gene |
ENSMUSG00000038764 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 3 |
| Synonyms |
9530011I20Rik, PTP-H1, PTPCL |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.632)
|
| Stock # |
IGL01090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57240833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 261
(I261F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
[ENSMUST00000153926]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075637
AA Change: I261F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: I261F
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
2.44e-67 |
SMART |
|
FERM_C
|
226 |
316 |
2.64e-25 |
SMART |
|
low complexity region
|
454 |
470 |
N/A |
INTRINSIC |
|
PDZ
|
519 |
598 |
1.65e-15 |
SMART |
|
PTPc
|
645 |
903 |
5.66e-117 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153926
|
| SMART Domains |
Protein: ENSMUSP00000122490
Gene: ENSMUSG00000038764
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
2.44e-67 |
SMART |
|
| 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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, especially in males, and male mice exhibit increased bone mineral content. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,896,099 (GRCm39) |
S316P |
possibly damaging |
Het |
| Actn1 |
A |
T |
12: 80,245,846 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
T |
C |
6: 34,776,822 (GRCm39) |
Y443H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,316,279 (GRCm39) |
D578E |
probably benign |
Het |
| Aldoa |
A |
T |
7: 126,395,207 (GRCm39) |
H292Q |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,254,775 (GRCm39) |
K194R |
possibly damaging |
Het |
| Bivm |
C |
A |
1: 44,168,451 (GRCm39) |
H244N |
probably damaging |
Het |
| Cabp5 |
G |
A |
7: 13,139,412 (GRCm39) |
E146K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap251 |
A |
C |
5: 123,418,052 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,297,035 (GRCm39) |
V129A |
probably benign |
Het |
| Clec4g |
A |
G |
8: 3,769,482 (GRCm39) |
S54P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,654,658 (GRCm39) |
V645L |
probably damaging |
Het |
| Csta1 |
T |
C |
16: 35,945,421 (GRCm39) |
T31A |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,544,610 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
G |
T |
7: 15,950,181 (GRCm39) |
P329Q |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,702,912 (GRCm39) |
N193S |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,236,696 (GRCm39) |
|
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,728 (GRCm39) |
Y449C |
probably damaging |
Het |
| Fmo4 |
C |
A |
1: 162,637,354 (GRCm39) |
|
probably null |
Het |
| Foxi3 |
C |
A |
6: 70,937,729 (GRCm39) |
N320K |
probably damaging |
Het |
| Gm9964 |
A |
G |
11: 79,187,210 (GRCm39) |
L79P |
unknown |
Het |
| Gpr161 |
T |
C |
1: 165,134,149 (GRCm39) |
I137T |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,376,457 (GRCm39) |
Q3426* |
probably null |
Het |
| Hps5 |
C |
T |
7: 46,437,751 (GRCm39) |
R108H |
probably benign |
Het |
| Itch |
T |
A |
2: 155,048,256 (GRCm39) |
V540E |
probably damaging |
Het |
| L3mbtl1 |
C |
A |
2: 162,807,925 (GRCm39) |
P520H |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,588,859 (GRCm39) |
V636A |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,812,778 (GRCm39) |
|
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,538 (GRCm39) |
K305R |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,142,816 (GRCm39) |
S675P |
probably benign |
Het |
| Plod3 |
A |
G |
5: 137,019,090 (GRCm39) |
D325G |
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,276,388 (GRCm39) |
V339A |
possibly damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,689,180 (GRCm39) |
L991Q |
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,858,124 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,130,847 (GRCm39) |
R373G |
possibly damaging |
Het |
| Rmi1 |
T |
C |
13: 58,557,208 (GRCm39) |
S486P |
probably damaging |
Het |
| Slc25a23 |
A |
G |
17: 57,354,233 (GRCm39) |
I139T |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,467,059 (GRCm39) |
S4017T |
probably benign |
Het |
| Tcaf1 |
C |
A |
6: 42,663,556 (GRCm39) |
C108F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,918,317 (GRCm39) |
Q1198R |
probably damaging |
Het |
| Tnni3k |
G |
T |
3: 154,645,320 (GRCm39) |
Q522K |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,773,093 (GRCm39) |
E713V |
probably damaging |
Het |
| Ugt2b34 |
C |
A |
5: 87,041,679 (GRCm39) |
V338F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,890,187 (GRCm39) |
M892L |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,636,225 (GRCm39) |
|
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,835 (GRCm39) |
E275G |
possibly damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,333,247 (GRCm39) |
M1T |
probably null |
Het |
| Wdr83os |
A |
T |
8: 85,808,476 (GRCm39) |
D76V |
probably damaging |
Het |
|
| Other mutations in Ptpn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Ptpn3
|
APN |
4 |
57,270,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01399:Ptpn3
|
APN |
4 |
57,225,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01413:Ptpn3
|
APN |
4 |
57,270,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01418:Ptpn3
|
APN |
4 |
57,270,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01806:Ptpn3
|
APN |
4 |
57,254,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01933:Ptpn3
|
APN |
4 |
57,197,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02087:Ptpn3
|
APN |
4 |
57,222,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Ptpn3
|
APN |
4 |
57,197,510 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02413:Ptpn3
|
APN |
4 |
57,205,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03163:Ptpn3
|
APN |
4 |
57,222,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Ptpn3
|
UTSW |
4 |
57,270,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Ptpn3
|
UTSW |
4 |
57,232,374 (GRCm39) |
missense |
probably benign |
|
|
R0240:Ptpn3
|
UTSW |
4 |
57,232,374 (GRCm39) |
missense |
probably benign |
|
|
R0310:Ptpn3
|
UTSW |
4 |
57,204,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0492:Ptpn3
|
UTSW |
4 |
57,194,304 (GRCm39) |
missense |
probably benign |
|
|
R0631:Ptpn3
|
UTSW |
4 |
57,204,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0656:Ptpn3
|
UTSW |
4 |
57,270,075 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1443:Ptpn3
|
UTSW |
4 |
57,225,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1741:Ptpn3
|
UTSW |
4 |
57,254,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Ptpn3
|
UTSW |
4 |
57,239,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:Ptpn3
|
UTSW |
4 |
57,270,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4431:Ptpn3
|
UTSW |
4 |
57,235,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4704:Ptpn3
|
UTSW |
4 |
57,270,119 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4935:Ptpn3
|
UTSW |
4 |
57,197,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Ptpn3
|
UTSW |
4 |
57,218,513 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5410:Ptpn3
|
UTSW |
4 |
57,205,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Ptpn3
|
UTSW |
4 |
57,240,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6024:Ptpn3
|
UTSW |
4 |
57,248,653 (GRCm39) |
splice site |
probably null |
|
|
R6061:Ptpn3
|
UTSW |
4 |
57,248,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6212:Ptpn3
|
UTSW |
4 |
57,270,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6213:Ptpn3
|
UTSW |
4 |
57,265,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Ptpn3
|
UTSW |
4 |
57,249,981 (GRCm39) |
missense |
probably benign |
|
|
R6444:Ptpn3
|
UTSW |
4 |
57,195,730 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6606:Ptpn3
|
UTSW |
4 |
57,265,104 (GRCm39) |
splice site |
probably null |
|
|
R6656:Ptpn3
|
UTSW |
4 |
57,205,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6730:Ptpn3
|
UTSW |
4 |
57,270,088 (GRCm39) |
missense |
probably benign |
|
|
R7133:Ptpn3
|
UTSW |
4 |
57,225,863 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7231:Ptpn3
|
UTSW |
4 |
57,245,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Ptpn3
|
UTSW |
4 |
57,239,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Ptpn3
|
UTSW |
4 |
57,221,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Ptpn3
|
UTSW |
4 |
57,240,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7742:Ptpn3
|
UTSW |
4 |
57,265,092 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8023:Ptpn3
|
UTSW |
4 |
57,248,688 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8099:Ptpn3
|
UTSW |
4 |
57,204,985 (GRCm39) |
nonsense |
probably null |
|
|
R8155:Ptpn3
|
UTSW |
4 |
57,232,336 (GRCm39) |
missense |
probably benign |
|
|
R8302:Ptpn3
|
UTSW |
4 |
57,218,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8315:Ptpn3
|
UTSW |
4 |
57,270,063 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8335:Ptpn3
|
UTSW |
4 |
57,235,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8346:Ptpn3
|
UTSW |
4 |
57,225,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8348:Ptpn3
|
UTSW |
4 |
57,240,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8448:Ptpn3
|
UTSW |
4 |
57,240,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8513:Ptpn3
|
UTSW |
4 |
57,270,085 (GRCm39) |
nonsense |
probably null |
|
|
R8846:Ptpn3
|
UTSW |
4 |
57,205,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9244:Ptpn3
|
UTSW |
4 |
57,254,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9337:Ptpn3
|
UTSW |
4 |
57,218,521 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9478:Ptpn3
|
UTSW |
4 |
57,197,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Ptpn3
|
UTSW |
4 |
57,205,914 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9710:Ptpn3
|
UTSW |
4 |
57,249,957 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation