Incidental Mutation 'R6444:Ptpn3'
| ID |
519119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn3
|
| Ensembl Gene |
ENSMUSG00000038764 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 3 |
| Synonyms |
9530011I20Rik, PTP-H1, PTPCL |
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.569)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57195730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 879
(D879G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075637
AA Change: D879G
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: D879G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGAAACGGAGATCTCTGCC -3'
(R):5'- AGGGATTCAGCTCTGCCTTG -3'
Sequencing Primer
(F):5'- GTCTCAGAATGTAACCCTGACTGG -3'
(R):5'- TGCCTTGCAGACCTGATG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation