Incidental Mutation 'IGL00162:Ptpn12'
ID |
1671 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptpn12
|
Ensembl Gene |
ENSMUSG00000028771 |
Gene Name |
protein tyrosine phosphatase, non-receptor type 12 |
Synonyms |
PTP-PEST, PTP-P19, P19-PTP |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00162
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21234848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 45
(E45G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
[ENSMUST00000151813]
[ENSMUST00000199774]
|
AlphaFold |
P35831 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030556
AA Change: E45G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030556 Gene: ENSMUSG00000028771 AA Change: E45G
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 |
noncoding transcript
Transcript: ENSMUST00000196295
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199774
|
Coding Region Coverage |
|
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 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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cc2d1b |
T |
G |
4: 108,484,575 (GRCm39) |
L470R |
probably damaging |
Het |
Cd96 |
A |
T |
16: 45,892,162 (GRCm39) |
N275K |
possibly damaging |
Het |
Col22a1 |
A |
G |
15: 71,732,807 (GRCm39) |
|
probably null |
Het |
Cyb561 |
T |
C |
11: 105,826,662 (GRCm39) |
H197R |
probably damaging |
Het |
Dlgap1 |
T |
C |
17: 70,823,080 (GRCm39) |
S22P |
probably benign |
Het |
Dnajc6 |
A |
G |
4: 101,365,286 (GRCm39) |
|
probably benign |
Het |
Fgf6 |
A |
T |
6: 127,001,048 (GRCm39) |
K185N |
possibly damaging |
Het |
Fshr |
T |
C |
17: 89,293,619 (GRCm39) |
N353S |
probably damaging |
Het |
Gabbr1 |
T |
A |
17: 37,359,335 (GRCm39) |
Y103* |
probably null |
Het |
Gm7247 |
G |
A |
14: 51,760,962 (GRCm39) |
C177Y |
possibly damaging |
Het |
Hikeshi |
A |
G |
7: 89,584,989 (GRCm39) |
F72L |
probably damaging |
Het |
Ikzf4 |
T |
C |
10: 128,470,416 (GRCm39) |
E368G |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,942,462 (GRCm39) |
E851G |
probably benign |
Het |
Kif3b |
A |
G |
2: 153,159,051 (GRCm39) |
D284G |
probably damaging |
Het |
Kyat3 |
G |
A |
3: 142,440,235 (GRCm39) |
A320T |
probably benign |
Het |
Mok |
C |
T |
12: 110,774,631 (GRCm39) |
|
probably benign |
Het |
Mrgpra3 |
A |
G |
7: 47,239,267 (GRCm39) |
F220L |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
Or10ag58 |
A |
G |
2: 87,265,407 (GRCm39) |
H192R |
probably benign |
Het |
Or2ag19 |
A |
G |
7: 106,444,574 (GRCm39) |
Y252C |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,299,280 (GRCm39) |
|
probably null |
Het |
Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,027,694 (GRCm39) |
*516R |
probably null |
Het |
Rps23rg1 |
A |
G |
8: 3,633,904 (GRCm39) |
T2A |
probably benign |
Het |
Senp6 |
A |
G |
9: 80,023,892 (GRCm39) |
D385G |
probably damaging |
Het |
Siglech |
T |
C |
7: 55,422,339 (GRCm39) |
|
probably benign |
Het |
Slit1 |
A |
G |
19: 41,639,274 (GRCm39) |
L212P |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,772,668 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
T |
2: 26,259,324 (GRCm39) |
C609S |
probably benign |
Het |
Strn3 |
T |
C |
12: 51,707,979 (GRCm39) |
T139A |
possibly damaging |
Het |
Tcaf3 |
T |
C |
6: 42,570,319 (GRCm39) |
T478A |
probably benign |
Het |
Tlr3 |
A |
G |
8: 45,853,727 (GRCm39) |
S198P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,720,823 (GRCm39) |
|
probably benign |
Het |
Vil1 |
G |
A |
1: 74,463,034 (GRCm39) |
E406K |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,483 (GRCm39) |
|
probably null |
Het |
Zfyve9 |
A |
G |
4: 108,499,304 (GRCm39) |
V1338A |
possibly damaging |
Het |
|
Other mutations in Ptpn12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4963:Ptpn12
|
UTSW |
5 |
21,220,706 (GRCm39) |
splice site |
probably null |
|
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 |
|
Posted On |
2011-07-12 |