Incidental Mutation 'IGL01399:Ptpn3'
| ID |
79557 |
| 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 # |
IGL01399
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57225775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 480
(D480G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075637
AA Change: D480G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: D480G
| 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: ENSMUST00000123664
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,445,790 (GRCm39) |
N206K |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,984,386 (GRCm39) |
Y3223H |
unknown |
Het |
| Btaf1 |
C |
T |
19: 36,977,570 (GRCm39) |
R1463* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,499,611 (GRCm39) |
I857T |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,443,986 (GRCm39) |
S594L |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,441,144 (GRCm39) |
W195R |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,203,025 (GRCm39) |
Y769C |
probably damaging |
Het |
| Cwc22 |
T |
C |
2: 77,747,408 (GRCm39) |
E435G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,273,890 (GRCm39) |
F339S |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,761,968 (GRCm39) |
E554* |
probably null |
Het |
| Dock3 |
G |
T |
9: 106,870,670 (GRCm39) |
S581R |
probably benign |
Het |
| Dst |
A |
G |
1: 34,156,598 (GRCm39) |
H176R |
probably benign |
Het |
| Emc8 |
A |
G |
8: 121,385,745 (GRCm39) |
M123T |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,490,357 (GRCm39) |
D55V |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,907,272 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
A |
T |
3: 62,511,852 (GRCm39) |
L49Q |
probably damaging |
Het |
| Hcfc1 |
C |
T |
X: 72,993,515 (GRCm39) |
V1217I |
possibly damaging |
Het |
| Hoxa4 |
G |
T |
6: 52,167,393 (GRCm39) |
Q263K |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,423,592 (GRCm39) |
E790G |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,372,384 (GRCm39) |
N138D |
probably damaging |
Het |
| Isg20 |
A |
T |
7: 78,569,836 (GRCm39) |
T158S |
possibly damaging |
Het |
| Klf17 |
A |
G |
4: 117,616,356 (GRCm39) |
F325S |
probably damaging |
Het |
| Lilrb4a |
T |
C |
10: 51,370,161 (GRCm39) |
L233P |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,651,470 (GRCm39) |
L1544Q |
probably damaging |
Het |
| Nexmif |
T |
A |
X: 103,130,786 (GRCm39) |
D377V |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,280,972 (GRCm39) |
T501A |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,804,099 (GRCm39) |
D93G |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,196,624 (GRCm39) |
I1120T |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,803 (GRCm39) |
M46K |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,629 (GRCm39) |
V214I |
probably benign |
Het |
| Selenof |
C |
T |
3: 144,302,669 (GRCm39) |
T148I |
probably damaging |
Het |
| Sgce |
C |
A |
6: 4,746,997 (GRCm39) |
G31V |
probably damaging |
Het |
| Slc35e1 |
C |
A |
8: 73,238,534 (GRCm39) |
A325S |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,376,794 (GRCm39) |
D1016G |
probably damaging |
Het |
| Synj2 |
T |
G |
17: 6,060,046 (GRCm39) |
C149W |
probably damaging |
Het |
| Tecpr1 |
A |
G |
5: 144,145,411 (GRCm39) |
|
probably null |
Het |
| Utp20 |
A |
G |
10: 88,594,164 (GRCm39) |
|
probably null |
Het |
| Vmn2r63 |
T |
A |
7: 42,553,543 (GRCm39) |
K571M |
probably damaging |
Het |
| Wdr53 |
A |
G |
16: 32,070,718 (GRCm39) |
D21G |
possibly damaging |
Het |
| Zbtb3 |
T |
C |
19: 8,780,819 (GRCm39) |
L144S |
probably damaging |
Het |
| Zfp185 |
T |
A |
X: 72,043,654 (GRCm39) |
S154T |
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 |
|
IGL01090:Ptpn3
|
APN |
4 |
57,240,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-05 |
Incidental Mutation