Incidental Mutation 'R4704:Ptpn3'
| ID |
356269 |
| 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 |
041952-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.632)
|
| Stock # |
R4704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57190841-57301837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57270119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 14
(N14K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075637]
[ENSMUST00000130900]
[ENSMUST00000151964]
[ENSMUST00000153926]
|
| AlphaFold |
A2ALK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075637
AA Change: N14K
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075063
Gene: ENSMUSG00000038764
AA Change: N14K
| 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 |
possibly damaging
Transcript: ENSMUST00000130900
AA Change: N14K
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114805
Gene: ENSMUSG00000038764
AA Change: N14K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
25 |
57 |
1e-15 |
BLAST |
|
SCOP:d1gg3a3
|
31 |
57 |
2e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150445
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151964
AA Change: N14K
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153926
AA Change: N14K
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122490
Gene: ENSMUSG00000038764
AA Change: N14K
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
2.44e-67 |
SMART |
|
| Meta Mutation Damage Score |
0.0658 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (89/92) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,959,259 (GRCm39) |
M147K |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,226,990 (GRCm39) |
D582G |
possibly damaging |
Het |
| Abca2 |
T |
C |
2: 25,333,424 (GRCm39) |
L1683P |
probably damaging |
Het |
| Adam39 |
A |
G |
8: 41,278,833 (GRCm39) |
H408R |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 56,012,482 (GRCm39) |
S554P |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,990,545 (GRCm39) |
I3943T |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,989,622 (GRCm39) |
|
probably benign |
Het |
| Alkal2 |
T |
A |
12: 30,937,195 (GRCm39) |
S109R |
probably damaging |
Het |
| Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
| Arhgef40 |
A |
G |
14: 52,239,767 (GRCm39) |
N1327S |
probably damaging |
Het |
| Arpc3 |
A |
G |
5: 122,538,471 (GRCm39) |
M1V |
probably null |
Het |
| Ascc1 |
A |
G |
10: 59,885,624 (GRCm39) |
Y225C |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,535,110 (GRCm39) |
I668V |
probably benign |
Het |
| Bdnf |
T |
A |
2: 109,554,037 (GRCm39) |
M137K |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,544,475 (GRCm39) |
D1231G |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,142,522 (GRCm39) |
Y239* |
probably null |
Het |
| Cpped1 |
G |
A |
16: 11,703,493 (GRCm39) |
|
probably benign |
Het |
| Ctu2 |
G |
A |
8: 123,206,042 (GRCm39) |
R261Q |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,278,055 (GRCm39) |
V645A |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,144,709 (GRCm39) |
C401R |
probably damaging |
Het |
| Dpt |
T |
G |
1: 164,646,518 (GRCm39) |
Y162* |
probably null |
Het |
| Ednra |
A |
G |
8: 78,394,592 (GRCm39) |
|
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,394,122 (GRCm39) |
T129A |
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,923,944 (GRCm39) |
T134A |
probably benign |
Het |
| Eloa |
A |
G |
4: 135,738,525 (GRCm39) |
V145A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
| Eng |
T |
C |
2: 32,568,924 (GRCm39) |
S484P |
probably benign |
Het |
| Eogt |
A |
T |
6: 97,090,813 (GRCm39) |
V442E |
probably damaging |
Het |
| Fam185a |
C |
T |
5: 21,685,471 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
C |
T |
10: 18,660,567 (GRCm39) |
V52I |
probably benign |
Het |
| Gnao1 |
A |
G |
8: 94,538,004 (GRCm39) |
E14G |
probably benign |
Het |
| Gpr75 |
C |
A |
11: 30,841,110 (GRCm39) |
A5D |
probably benign |
Het |
| Hbq1b |
T |
A |
11: 32,237,448 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,694,097 (GRCm39) |
T724M |
probably damaging |
Het |
| Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,718,307 (GRCm39) |
|
probably benign |
Het |
| Irak4 |
A |
G |
15: 94,464,781 (GRCm39) |
|
probably null |
Het |
| Kalrn |
T |
C |
16: 34,024,327 (GRCm39) |
D610G |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,547,177 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
G |
A |
5: 25,519,025 (GRCm39) |
Q2362* |
probably null |
Het |
| Kntc1 |
G |
A |
5: 123,949,496 (GRCm39) |
E1956K |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,686,280 (GRCm39) |
V2781A |
probably benign |
Het |
| Lipt2 |
A |
G |
7: 99,809,534 (GRCm39) |
E207G |
probably damaging |
Het |
| Mag |
A |
T |
7: 30,608,598 (GRCm39) |
L172Q |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,566,983 (GRCm39) |
C1913S |
unknown |
Het |
| Mical3 |
A |
G |
6: 120,935,649 (GRCm39) |
S1626P |
probably benign |
Het |
| Mslnl |
G |
T |
17: 25,957,952 (GRCm39) |
W65L |
possibly damaging |
Het |
| Muc20 |
G |
T |
16: 32,599,448 (GRCm39) |
A3332S |
possibly damaging |
Het |
| Nadk |
C |
A |
4: 155,669,684 (GRCm39) |
P157T |
probably benign |
Het |
| Nkx2-3 |
G |
A |
19: 43,601,123 (GRCm39) |
E62K |
probably damaging |
Het |
| Or6c2 |
T |
C |
10: 129,362,171 (GRCm39) |
L25P |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,726,494 (GRCm39) |
|
probably benign |
Het |
| Pcna-ps2 |
T |
A |
19: 9,260,786 (GRCm39) |
V15E |
possibly damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,625,012 (GRCm39) |
G1285W |
probably damaging |
Het |
| Pramel29 |
A |
T |
4: 143,935,162 (GRCm39) |
I193N |
probably damaging |
Het |
| Procr |
A |
G |
2: 155,596,258 (GRCm39) |
S142G |
probably damaging |
Het |
| Rin1 |
C |
A |
19: 5,105,018 (GRCm39) |
L693I |
probably damaging |
Het |
| Ripk4 |
C |
A |
16: 97,547,204 (GRCm39) |
E290* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,331,175 (GRCm39) |
Y2128C |
probably damaging |
Het |
| Saal1 |
T |
C |
7: 46,349,164 (GRCm39) |
|
probably benign |
Het |
| Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
| Serpinf1 |
C |
A |
11: 75,301,867 (GRCm39) |
A263S |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,380,824 (GRCm39) |
D669E |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,499,616 (GRCm39) |
|
probably benign |
Het |
| Sri |
A |
T |
5: 8,112,430 (GRCm39) |
|
probably null |
Het |
| Sspo |
G |
A |
6: 48,475,638 (GRCm39) |
C4918Y |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,251,026 (GRCm39) |
Y361H |
probably damaging |
Het |
| Tbc1d12 |
T |
A |
19: 38,889,781 (GRCm39) |
W404R |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,735,928 (GRCm39) |
E1841G |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,074,530 (GRCm39) |
T1832A |
probably benign |
Het |
| Tmem132e |
G |
A |
11: 82,334,357 (GRCm39) |
A623T |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,811,774 (GRCm39) |
F357Y |
possibly damaging |
Het |
| Trappc13 |
T |
G |
13: 104,303,329 (GRCm39) |
|
probably benign |
Het |
| Trav6-5 |
C |
T |
14: 53,728,883 (GRCm39) |
Q47* |
probably null |
Het |
| Ubxn1 |
T |
A |
19: 8,849,399 (GRCm39) |
D47E |
probably benign |
Het |
| Vmn2r45 |
G |
T |
7: 8,486,535 (GRCm39) |
S251* |
probably null |
Het |
| Wnk1 |
A |
G |
6: 119,942,705 (GRCm39) |
L774S |
possibly damaging |
Het |
| Zfp189 |
T |
C |
4: 49,530,081 (GRCm39) |
S395P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGCCAGTTCTGAAATTTCAAG -3'
(R):5'- AAGATGGTTTTGTTACCCTGCTC -3'
Sequencing Primer
(F):5'- GCCAGTTCTGAAATTTCAAGCTTTC -3'
(R):5'- ACCCTGCTCTACCTACAGG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation