Incidental Mutation 'R4963:Ptpn12'
ID |
383706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptpn12
|
Ensembl Gene |
ENSMUSG00000028771 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 12 |
Synonyms |
PTP-PEST, PTP-P19, P19-PTP |
MMRRC Submission |
042560-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4963 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to A
at 21220706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
[ENSMUST00000151813]
[ENSMUST00000199774]
|
AlphaFold |
P35831 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030556
|
SMART Domains |
Protein: ENSMUSP00000030556 Gene: ENSMUSG00000028771
Domain | Start | End | E-Value | Type |
PTPc
|
27 |
295 |
2.14e-126 |
SMART |
Blast:PTPc
|
338 |
399 |
7e-12 |
BLAST |
low complexity region
|
499 |
518 |
N/A |
INTRINSIC |
low complexity region
|
603 |
615 |
N/A |
INTRINSIC |
low complexity region
|
622 |
640 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140057
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199774
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
97% (74/76) |
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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008] PHENOTYPE: Homozygous mutation of this gene results in early embryonic lethality, defective embryo turning, improper somitogenesis and vasculogenesis, impaired liver development, truncation of the caudal region and mesenchyme deficiency. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,470,582 (GRCm39) |
I133N |
probably benign |
Het |
Abca15 |
T |
C |
7: 119,960,142 (GRCm39) |
S642P |
probably damaging |
Het |
Abcg5 |
G |
T |
17: 84,967,569 (GRCm39) |
Y410* |
probably null |
Het |
Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
Ank2 |
G |
A |
3: 126,825,745 (GRCm39) |
T418M |
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,907,583 (GRCm39) |
R260G |
possibly damaging |
Het |
Atp1a3 |
T |
C |
7: 24,694,051 (GRCm39) |
T381A |
probably damaging |
Het |
Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,204,619 (GRCm39) |
D309G |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,286,145 (GRCm39) |
I768T |
probably benign |
Het |
Defa41 |
C |
T |
8: 21,691,774 (GRCm39) |
S52F |
probably damaging |
Het |
Dgke |
A |
G |
11: 88,941,628 (GRCm39) |
V249A |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,975,437 (GRCm39) |
|
probably null |
Het |
Dnajc3 |
C |
A |
14: 119,215,585 (GRCm39) |
H502N |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,846 (GRCm39) |
T2265A |
probably damaging |
Het |
Enpp6 |
A |
G |
8: 47,518,496 (GRCm39) |
D208G |
probably benign |
Het |
Evc |
C |
T |
5: 37,479,393 (GRCm39) |
|
probably null |
Het |
Fam98a |
A |
G |
17: 75,845,977 (GRCm39) |
S285P |
probably damaging |
Het |
Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
Gsdmc |
A |
G |
15: 63,676,229 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
C |
A |
13: 9,035,253 (GRCm39) |
D369Y |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,982,630 (GRCm39) |
Y77H |
probably benign |
Het |
Irx2 |
T |
C |
13: 72,780,729 (GRCm39) |
V466A |
possibly damaging |
Het |
Kcnh4 |
C |
A |
11: 100,643,079 (GRCm39) |
W396L |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,476,808 (GRCm39) |
D614G |
possibly damaging |
Het |
Kirrel2 |
C |
A |
7: 30,150,226 (GRCm39) |
|
probably null |
Het |
Lcn5 |
A |
G |
2: 25,551,426 (GRCm39) |
I182V |
probably benign |
Het |
Ldb3 |
T |
G |
14: 34,288,815 (GRCm39) |
S252R |
probably damaging |
Het |
Marchf8 |
G |
A |
6: 116,363,232 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
C |
A |
4: 32,756,512 (GRCm39) |
Q4735K |
probably benign |
Het |
Mfrp |
A |
T |
9: 44,014,561 (GRCm39) |
H236L |
probably benign |
Het |
Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
Msi1 |
T |
A |
5: 115,588,944 (GRCm39) |
Y320N |
probably damaging |
Het |
Mtmr11 |
T |
C |
3: 96,070,567 (GRCm39) |
|
probably benign |
Het |
Mtpap |
T |
C |
18: 4,375,638 (GRCm39) |
V6A |
probably benign |
Het |
Nedd1 |
C |
A |
10: 92,530,893 (GRCm39) |
D399Y |
probably damaging |
Het |
Ninl |
A |
G |
2: 150,781,829 (GRCm39) |
Y234H |
probably benign |
Het |
Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
Nle1 |
A |
G |
11: 82,795,763 (GRCm39) |
V228A |
probably benign |
Het |
Npy4r |
T |
A |
14: 33,868,973 (GRCm39) |
D105V |
probably damaging |
Het |
Or1f12 |
A |
G |
13: 21,722,152 (GRCm39) |
Y8H |
probably damaging |
Het |
Palld |
C |
T |
8: 62,156,244 (GRCm39) |
V464M |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
Pex1 |
T |
A |
5: 3,659,924 (GRCm39) |
M476K |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,367,421 (GRCm39) |
S773N |
probably benign |
Het |
Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
Prmt9 |
A |
G |
8: 78,282,358 (GRCm39) |
D85G |
probably damaging |
Het |
Rbm19 |
T |
A |
5: 120,279,631 (GRCm39) |
M766K |
probably damaging |
Het |
Rdh11 |
A |
G |
12: 79,235,380 (GRCm39) |
V72A |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,367 (GRCm39) |
V335A |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,431,318 (GRCm39) |
K127E |
possibly damaging |
Het |
Slc5a1 |
C |
T |
5: 33,318,126 (GRCm39) |
T593I |
probably benign |
Het |
Slco1a1 |
A |
G |
6: 141,868,825 (GRCm39) |
F380L |
probably benign |
Het |
Smc2 |
T |
C |
4: 52,450,826 (GRCm39) |
S215P |
probably damaging |
Het |
Smyd2 |
A |
T |
1: 189,614,385 (GRCm39) |
V381E |
probably damaging |
Het |
Smyd4 |
C |
T |
11: 75,273,120 (GRCm39) |
S60L |
probably benign |
Het |
Spata18 |
T |
A |
5: 73,836,336 (GRCm39) |
V419E |
probably damaging |
Het |
Terb1 |
A |
G |
8: 105,208,950 (GRCm39) |
L376S |
probably damaging |
Het |
Timd2 |
T |
C |
11: 46,573,617 (GRCm39) |
E129G |
possibly damaging |
Het |
Topbp1 |
C |
A |
9: 103,197,804 (GRCm39) |
T461K |
probably benign |
Het |
Tpp2 |
G |
A |
1: 44,031,428 (GRCm39) |
R1069Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,584,289 (GRCm39) |
V22273A |
probably damaging |
Het |
Tulp4 |
G |
A |
17: 6,249,088 (GRCm39) |
E36K |
probably damaging |
Het |
Uqcrfs1 |
A |
T |
13: 30,724,746 (GRCm39) |
F265I |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,595,403 (GRCm39) |
Q652L |
probably damaging |
Het |
Vwf |
C |
T |
6: 125,644,446 (GRCm39) |
R2434* |
probably null |
Het |
Wdhd1 |
A |
G |
14: 47,506,146 (GRCm39) |
V256A |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,415 (GRCm39) |
C439S |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,643,632 (GRCm39) |
T354A |
probably benign |
Het |
Zswim2 |
A |
T |
2: 83,755,454 (GRCm39) |
I149N |
probably damaging |
Het |
|
Other mutations in Ptpn12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Ptpn12
|
APN |
5 |
21,234,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00226:Ptpn12
|
APN |
5 |
21,203,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01432:Ptpn12
|
APN |
5 |
21,203,553 (GRCm39) |
nonsense |
probably null |
|
IGL02285:Ptpn12
|
APN |
5 |
21,260,711 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02488:Ptpn12
|
APN |
5 |
21,227,060 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02550:Ptpn12
|
APN |
5 |
21,203,137 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02640:Ptpn12
|
APN |
5 |
21,224,244 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Ptpn12
|
APN |
5 |
21,207,435 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03130:Ptpn12
|
APN |
5 |
21,207,610 (GRCm39) |
unclassified |
probably benign |
|
R0531:Ptpn12
|
UTSW |
5 |
21,203,481 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0948:Ptpn12
|
UTSW |
5 |
21,203,041 (GRCm39) |
missense |
probably benign |
|
R1018:Ptpn12
|
UTSW |
5 |
21,234,867 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1184:Ptpn12
|
UTSW |
5 |
21,203,354 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1699:Ptpn12
|
UTSW |
5 |
21,203,168 (GRCm39) |
missense |
probably benign |
0.01 |
R1938:Ptpn12
|
UTSW |
5 |
21,198,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R1952:Ptpn12
|
UTSW |
5 |
21,203,308 (GRCm39) |
missense |
probably benign |
0.34 |
R2152:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2153:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Ptpn12
|
UTSW |
5 |
21,207,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:Ptpn12
|
UTSW |
5 |
21,203,409 (GRCm39) |
missense |
probably damaging |
0.98 |
R2358:Ptpn12
|
UTSW |
5 |
21,203,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Ptpn12
|
UTSW |
5 |
21,194,047 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3931:Ptpn12
|
UTSW |
5 |
21,206,321 (GRCm39) |
missense |
probably benign |
0.00 |
R4013:Ptpn12
|
UTSW |
5 |
21,197,741 (GRCm39) |
missense |
probably benign |
0.05 |
R4039:Ptpn12
|
UTSW |
5 |
21,207,508 (GRCm39) |
nonsense |
probably null |
|
R4501:Ptpn12
|
UTSW |
5 |
21,224,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Ptpn12
|
UTSW |
5 |
21,210,383 (GRCm39) |
nonsense |
probably null |
|
R4754:Ptpn12
|
UTSW |
5 |
21,203,587 (GRCm39) |
missense |
probably benign |
0.34 |
R5160:Ptpn12
|
UTSW |
5 |
21,202,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R5581:Ptpn12
|
UTSW |
5 |
21,220,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R5789:Ptpn12
|
UTSW |
5 |
21,194,013 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5836:Ptpn12
|
UTSW |
5 |
21,214,544 (GRCm39) |
nonsense |
probably null |
|
R6383:Ptpn12
|
UTSW |
5 |
21,192,466 (GRCm39) |
nonsense |
probably null |
|
R6883:Ptpn12
|
UTSW |
5 |
21,260,711 (GRCm39) |
missense |
probably benign |
0.40 |
R7544:Ptpn12
|
UTSW |
5 |
21,214,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R7885:Ptpn12
|
UTSW |
5 |
21,203,523 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7915:Ptpn12
|
UTSW |
5 |
21,214,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Ptpn12
|
UTSW |
5 |
21,260,687 (GRCm39) |
missense |
probably benign |
0.01 |
R7976:Ptpn12
|
UTSW |
5 |
21,207,631 (GRCm39) |
nonsense |
probably null |
|
R8032:Ptpn12
|
UTSW |
5 |
21,203,041 (GRCm39) |
missense |
probably benign |
|
R8224:Ptpn12
|
UTSW |
5 |
21,203,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R8473:Ptpn12
|
UTSW |
5 |
21,203,357 (GRCm39) |
missense |
probably benign |
0.00 |
R8823:Ptpn12
|
UTSW |
5 |
21,203,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9375:Ptpn12
|
UTSW |
5 |
21,224,212 (GRCm39) |
missense |
probably benign |
0.21 |
R9613:Ptpn12
|
UTSW |
5 |
21,203,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9707:Ptpn12
|
UTSW |
5 |
21,207,620 (GRCm39) |
missense |
probably damaging |
0.99 |
X0004:Ptpn12
|
UTSW |
5 |
21,224,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCACCAGAACTACTTTAATGTTCA -3'
(R):5'- TGAACCAGATTAGAGTTTAATCCAAAC -3'
Sequencing Primer
(F):5'- CACAGAAGTTTGTGCTCC -3'
(R):5'- GACATTTGTATTTCACTTG -3'
|
Posted On |
2016-04-27 |