Incidental Mutation 'IGL01806:Ptpn3'
ID |
155692 |
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 # |
IGL01806
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 57254915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
[ENSMUST00000153926]
|
AlphaFold |
A2ALK8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000075637
|
SMART Domains |
Protein: ENSMUSP00000075063 Gene: ENSMUSG00000038764
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 |
noncoding transcript
Transcript: ENSMUST00000150445
|
Predicted Effect |
probably null
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
C |
8: 95,739,559 (GRCm39) |
S670P |
probably damaging |
Het |
Ap5m1 |
T |
A |
14: 49,317,797 (GRCm39) |
F351L |
probably damaging |
Het |
Cacnb2 |
A |
G |
2: 14,619,079 (GRCm39) |
Y38C |
probably damaging |
Het |
Ccdc28a |
C |
T |
10: 18,095,262 (GRCm39) |
A151T |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,557,604 (GRCm39) |
E976G |
probably damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,525,264 (GRCm39) |
Y189C |
probably damaging |
Het |
Dbt |
T |
C |
3: 116,326,954 (GRCm39) |
V101A |
probably damaging |
Het |
Evc |
A |
G |
5: 37,477,578 (GRCm39) |
|
probably null |
Het |
Fastkd5 |
A |
G |
2: 130,457,532 (GRCm39) |
Y353H |
probably benign |
Het |
Gm6408 |
G |
A |
5: 146,418,892 (GRCm39) |
R30H |
probably damaging |
Het |
Lhx8 |
A |
G |
3: 154,027,992 (GRCm39) |
S156P |
probably damaging |
Het |
Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
Mtrr |
A |
T |
13: 68,728,719 (GRCm39) |
V27E |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,307,363 (GRCm39) |
V226A |
probably benign |
Het |
Nek1 |
T |
C |
8: 61,577,246 (GRCm39) |
S1076P |
possibly damaging |
Het |
Or52z14 |
C |
T |
7: 103,253,548 (GRCm39) |
A229V |
probably benign |
Het |
Or6ae1 |
G |
T |
7: 139,742,841 (GRCm39) |
N7K |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,548 (GRCm39) |
D228G |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,611,073 (GRCm39) |
S414P |
probably benign |
Het |
Plcd4 |
G |
A |
1: 74,591,192 (GRCm39) |
V196I |
probably benign |
Het |
Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
Ptprq |
C |
A |
10: 107,535,469 (GRCm39) |
R432L |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,838,475 (GRCm39) |
K108E |
possibly damaging |
Het |
Siglecg |
A |
G |
7: 43,060,888 (GRCm39) |
|
probably null |
Het |
Srpra |
A |
G |
9: 35,126,201 (GRCm39) |
T465A |
possibly damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly 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 |
IGL01090:Ptpn3
|
APN |
4 |
57,240,833 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2014-02-04 |