Incidental Mutation 'R6024:Ptpn3'
ID |
482059 |
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 |
044196-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.632)
|
Stock # |
R6024 (G1)
|
Quality Score |
188.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to A
at 57248653 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 |
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
100% (56/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,624,624 (GRCm39) |
F3782L |
probably benign |
Het |
Akr1d1 |
T |
C |
6: 37,535,417 (GRCm39) |
I267T |
probably benign |
Het |
Aoc1l1 |
A |
T |
6: 48,953,030 (GRCm39) |
K318N |
possibly damaging |
Het |
Arhgef5 |
T |
C |
6: 43,252,068 (GRCm39) |
S940P |
probably benign |
Het |
Art2b |
A |
G |
7: 101,229,587 (GRCm39) |
I104T |
probably benign |
Het |
Avpr1a |
A |
G |
10: 122,285,053 (GRCm39) |
Y115C |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,367,526 (GRCm39) |
L995Q |
probably damaging |
Het |
Cenatac |
T |
C |
9: 44,329,249 (GRCm39) |
T13A |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,753,152 (GRCm39) |
K210E |
possibly damaging |
Het |
Cog4 |
C |
T |
8: 111,608,112 (GRCm39) |
T735I |
probably damaging |
Het |
Creb3l4 |
G |
A |
3: 90,146,006 (GRCm39) |
S206L |
probably damaging |
Het |
Csf3r |
C |
A |
4: 125,931,310 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
T |
12: 117,994,007 (GRCm39) |
S2346R |
probably benign |
Het |
Dnai2 |
A |
T |
11: 114,643,734 (GRCm39) |
I467F |
possibly damaging |
Het |
Dpy19l4 |
A |
T |
4: 11,276,876 (GRCm39) |
M523K |
probably damaging |
Het |
Ebf3 |
T |
C |
7: 136,802,264 (GRCm39) |
D407G |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,209,908 (GRCm39) |
I991T |
probably benign |
Het |
Gcc1 |
T |
C |
6: 28,419,299 (GRCm39) |
T345A |
probably benign |
Het |
Gm1527 |
C |
T |
3: 28,974,752 (GRCm39) |
H522Y |
probably benign |
Het |
Gm4846 |
T |
A |
1: 166,317,696 (GRCm39) |
Y240F |
probably benign |
Het |
Hmgcl |
T |
C |
4: 135,682,926 (GRCm39) |
V126A |
probably benign |
Het |
Ifit1bl2 |
G |
T |
19: 34,597,438 (GRCm39) |
S59R |
probably benign |
Het |
Itga6 |
A |
G |
2: 71,617,577 (GRCm39) |
N32S |
probably benign |
Het |
Lcor |
C |
A |
19: 41,572,396 (GRCm39) |
P384T |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,414,160 (GRCm39) |
S779P |
probably benign |
Het |
Mctp1 |
G |
T |
13: 76,533,280 (GRCm39) |
L209F |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,489,915 (GRCm39) |
N97S |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,785,350 (GRCm39) |
V336E |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,557,967 (GRCm39) |
S2775R |
unknown |
Het |
Muc6 |
T |
A |
7: 141,227,841 (GRCm39) |
T1316S |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,095,567 (GRCm39) |
N65I |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,762,671 (GRCm39) |
N801D |
possibly damaging |
Het |
Nkain2 |
A |
T |
10: 31,827,281 (GRCm39) |
M103K |
probably damaging |
Het |
Nkx2-2 |
T |
A |
2: 147,025,961 (GRCm39) |
Y259F |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,897,526 (GRCm39) |
M877V |
possibly damaging |
Het |
Nxf1 |
C |
T |
19: 8,745,108 (GRCm39) |
L453F |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,255,871 (GRCm39) |
S790G |
possibly damaging |
Het |
Phf3 |
T |
C |
1: 30,902,307 (GRCm39) |
D2G |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,838,898 (GRCm39) |
|
probably benign |
Het |
Pygl |
T |
C |
12: 70,243,841 (GRCm39) |
T625A |
probably benign |
Het |
R3hdm2 |
T |
A |
10: 127,295,349 (GRCm39) |
F239I |
probably damaging |
Het |
Sesn1 |
A |
T |
10: 41,772,196 (GRCm39) |
I242F |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,733,768 (GRCm39) |
T105I |
probably benign |
Het |
Skint3 |
T |
C |
4: 112,147,543 (GRCm39) |
F350S |
possibly damaging |
Het |
Slco5a1 |
T |
C |
1: 13,014,294 (GRCm39) |
Y320C |
probably damaging |
Het |
Syt11 |
A |
G |
3: 88,669,416 (GRCm39) |
S159P |
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,814,498 (GRCm39) |
S1981P |
probably damaging |
Het |
Tmem200c |
A |
C |
17: 69,148,722 (GRCm39) |
D435A |
possibly damaging |
Het |
Trappc8 |
A |
G |
18: 20,966,066 (GRCm39) |
V1125A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,644,487 (GRCm39) |
V4762A |
possibly damaging |
Het |
Unc5d |
A |
G |
8: 29,365,539 (GRCm39) |
S149P |
possibly damaging |
Het |
Usf3 |
A |
T |
16: 44,040,203 (GRCm39) |
N1561I |
probably damaging |
Het |
Wdr4 |
A |
T |
17: 31,720,272 (GRCm39) |
|
probably benign |
Het |
Wdr49 |
T |
G |
3: 75,209,133 (GRCm39) |
E612D |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTCTCGGCAGGAACAAG -3'
(R):5'- GTCAGGTTCCATGGACAAGAAG -3'
Sequencing Primer
(F):5'- AAGTGTCTTAAACCCCTGAGGCG -3'
(R):5'- CTAGAGTGCTTACGGGGGAC -3'
|
Posted On |
2017-06-27 |