Incidental Mutation 'IGL03130:Ptpn12'
| ID |
410305 |
| 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 # |
IGL03130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 21207610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030556]
[ENSMUST00000151813]
[ENSMUST00000199774]
|
| AlphaFold |
P35831 |
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000126853
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151813
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
G |
T |
10: 85,224,347 (GRCm39) |
|
probably null |
Het |
| Agtpbp1 |
T |
C |
13: 59,622,403 (GRCm39) |
E941G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,808 (GRCm39) |
Y1526* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,572,577 (GRCm39) |
I1165V |
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,558,393 (GRCm39) |
D473G |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,436,222 (GRCm39) |
L176F |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,654,689 (GRCm39) |
N279S |
probably benign |
Het |
| Dpy19l3 |
A |
G |
7: 35,452,097 (GRCm39) |
S16P |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,288 (GRCm39) |
C1806S |
probably benign |
Het |
| Fam151b |
T |
C |
13: 92,586,701 (GRCm39) |
Y244C |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,255,787 (GRCm39) |
M750T |
possibly damaging |
Het |
| Gm11564 |
T |
A |
11: 99,705,879 (GRCm39) |
T184S |
unknown |
Het |
| Gnptab |
A |
G |
10: 88,272,233 (GRCm39) |
K958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,924,310 (GRCm39) |
S162P |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,500,362 (GRCm39) |
S2651P |
probably benign |
Het |
| LTO1 |
A |
G |
7: 144,470,197 (GRCm39) |
E42G |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,513,403 (GRCm39) |
D56G |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,256,920 (GRCm39) |
Y528H |
probably damaging |
Het |
| Npas2 |
A |
C |
1: 39,352,109 (GRCm39) |
E186D |
probably damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,166 (GRCm39) |
D293E |
probably benign |
Het |
| Or7c19 |
A |
T |
8: 85,957,258 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or7d11 |
C |
A |
9: 19,966,668 (GRCm39) |
L30F |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,468,640 (GRCm39) |
Y520* |
probably null |
Het |
| Plekhm1 |
C |
T |
11: 103,268,207 (GRCm39) |
R588H |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,344,341 (GRCm39) |
H371Q |
probably benign |
Het |
| Rela |
T |
C |
19: 5,689,909 (GRCm39) |
C120R |
probably damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,532,008 (GRCm39) |
I665F |
probably damaging |
Het |
| Spg21 |
A |
G |
9: 65,380,990 (GRCm39) |
Q99R |
probably benign |
Het |
| St14 |
A |
G |
9: 31,008,367 (GRCm39) |
|
probably null |
Het |
| Sult1c2 |
A |
T |
17: 54,137,099 (GRCm39) |
N274K |
probably benign |
Het |
| Syk |
T |
C |
13: 52,776,768 (GRCm39) |
V256A |
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,844,222 (GRCm39) |
D66G |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,885,580 (GRCm39) |
T374M |
probably damaging |
Het |
| Tns4 |
T |
C |
11: 98,959,095 (GRCm39) |
H668R |
probably damaging |
Het |
| Tsn |
C |
T |
1: 118,232,999 (GRCm39) |
A102T |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,189 (GRCm39) |
S350T |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,214 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,515,970 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,169,276 (GRCm39) |
D618G |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,373 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
T |
C |
19: 55,380,279 (GRCm39) |
Y143H |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,620 (GRCm39) |
Y17N |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,767,761 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,787,586 (GRCm39) |
T251A |
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 |
|
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 |
2016-08-02 |
Incidental Mutation