Incidental Mutation 'R8346:Ptpn3'
ID |
645221 |
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 |
067802-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.632)
|
Stock # |
R8346 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57225547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 513
(I513V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075063
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
|
AlphaFold |
A2ALK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075637
AA Change: I513V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075063 Gene: ENSMUSG00000038764 AA Change: I513V
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
A |
G |
14: 59,380,221 (GRCm39) |
S26P |
probably damaging |
Het |
Aco1 |
T |
A |
4: 40,177,876 (GRCm39) |
M299K |
probably damaging |
Het |
Acox1 |
G |
T |
11: 116,069,099 (GRCm39) |
T382N |
possibly damaging |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
App |
G |
T |
16: 84,900,145 (GRCm39) |
R102S |
unknown |
Het |
Chd1l |
T |
C |
3: 97,469,959 (GRCm39) |
N856D |
probably benign |
Het |
Col11a1 |
A |
G |
3: 114,005,818 (GRCm39) |
D1650G |
unknown |
Het |
Cx3cl1 |
T |
C |
8: 95,507,168 (GRCm39) |
V391A |
probably damaging |
Het |
Cyp11b2 |
T |
C |
15: 74,723,617 (GRCm39) |
Y378C |
probably damaging |
Het |
Cyp26b1 |
T |
C |
6: 84,554,150 (GRCm39) |
S156G |
probably benign |
Het |
Cyp3a11 |
C |
T |
5: 145,795,612 (GRCm39) |
M446I |
probably damaging |
Het |
D7Ertd443e |
G |
A |
7: 133,950,485 (GRCm39) |
T396I |
possibly damaging |
Het |
Dusp4 |
C |
A |
8: 35,275,092 (GRCm39) |
N70K |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,632,226 (GRCm39) |
A4499T |
probably benign |
Het |
Eno2 |
T |
C |
6: 124,740,758 (GRCm39) |
D266G |
possibly damaging |
Het |
Eomes |
T |
C |
9: 118,314,036 (GRCm39) |
S694P |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,621,792 (GRCm39) |
V473A |
probably benign |
Het |
Fmo5 |
T |
A |
3: 97,552,962 (GRCm39) |
N303K |
probably damaging |
Het |
Garin1b |
G |
A |
6: 29,334,030 (GRCm39) |
C296Y |
probably damaging |
Het |
Gdf10 |
A |
G |
14: 33,653,802 (GRCm39) |
E103G |
probably benign |
Het |
Gjb6 |
T |
C |
14: 57,362,259 (GRCm39) |
M1V |
probably null |
Het |
Gm17067 |
A |
G |
7: 42,358,073 (GRCm39) |
L143P |
probably damaging |
Het |
Helz |
A |
G |
11: 107,563,399 (GRCm39) |
D1613G |
unknown |
Het |
Hmgn3 |
T |
C |
9: 82,993,159 (GRCm39) |
K50E |
probably damaging |
Het |
Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
Ighv1-9 |
A |
T |
12: 114,547,448 (GRCm39) |
M31K |
probably benign |
Het |
Ighv2-2 |
A |
T |
12: 113,552,189 (GRCm39) |
C16* |
probably null |
Het |
Kidins220 |
T |
G |
12: 25,086,533 (GRCm39) |
F989C |
probably damaging |
Het |
Krtap28-13 |
A |
G |
1: 83,039,086 (GRCm39) |
K124E |
unknown |
Het |
Mast4 |
A |
G |
13: 102,887,986 (GRCm39) |
V1141A |
probably damaging |
Het |
Myb |
A |
T |
10: 21,002,136 (GRCm39) |
M735K |
probably benign |
Het |
Myo3a |
T |
A |
2: 22,448,434 (GRCm39) |
|
probably null |
Het |
Naa60 |
G |
A |
16: 3,718,507 (GRCm39) |
G113D |
probably damaging |
Het |
Nfatc1 |
T |
C |
18: 80,725,382 (GRCm39) |
I461V |
probably benign |
Het |
Nphp4 |
C |
A |
4: 152,645,778 (GRCm39) |
A1262D |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,976,007 (GRCm39) |
V2040E |
possibly damaging |
Het |
Or1j4 |
A |
G |
2: 36,740,351 (GRCm39) |
I98V |
probably benign |
Het |
Or9a2 |
A |
G |
6: 41,749,057 (GRCm39) |
Y59H |
probably damaging |
Het |
Ormdl1 |
T |
A |
1: 53,344,626 (GRCm39) |
F63I |
possibly damaging |
Het |
Otulinl |
A |
G |
15: 27,664,644 (GRCm39) |
Y76H |
probably damaging |
Het |
Phc1 |
C |
T |
6: 122,302,774 (GRCm39) |
V250M |
probably damaging |
Het |
Pik3c2b |
G |
A |
1: 133,017,984 (GRCm39) |
V949M |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Prmt8 |
T |
A |
6: 127,688,810 (GRCm39) |
M187L |
probably damaging |
Het |
Rad17 |
A |
C |
13: 100,781,681 (GRCm39) |
S39A |
possibly damaging |
Het |
Rbck1 |
T |
C |
2: 152,160,700 (GRCm39) |
Y412C |
probably damaging |
Het |
Rfc3 |
C |
A |
5: 151,569,100 (GRCm39) |
M152I |
probably damaging |
Het |
Scn11a |
C |
A |
9: 119,608,047 (GRCm39) |
C1028F |
probably damaging |
Het |
Sfmbt2 |
C |
A |
2: 10,466,236 (GRCm39) |
P357Q |
probably damaging |
Het |
Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,452,936 (GRCm39) |
N204S |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,830,699 (GRCm39) |
V244A |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,802,350 (GRCm39) |
T518A |
probably benign |
Het |
Xdh |
T |
C |
17: 74,220,938 (GRCm39) |
D597G |
probably damaging |
Het |
Zfp457 |
G |
A |
13: 67,441,862 (GRCm39) |
Q238* |
probably null |
Het |
Zfp647 |
T |
C |
15: 76,795,928 (GRCm39) |
D244G |
probably damaging |
Het |
Zfp870 |
T |
A |
17: 33,102,843 (GRCm39) |
E162V |
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 |
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 |
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'- CTTGGGTTTGCGTTCACAC -3'
(R):5'- GTGATAAGGTGAGGGACTTCCG -3'
Sequencing Primer
(F):5'- ATGCTTGCATGGCTAGAACC -3'
(R):5'- CGGGTCCTGTGCACTTTCG -3'
|
Posted On |
2020-09-02 |