Incidental Mutation 'R5581:Ptpn12'
| ID |
438460 |
| 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 |
043135-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21220724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 135
(E135D)
|
| 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: E135D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030556
Gene: ENSMUSG00000028771
AA Change: E135D
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
C |
11: 85,100,921 (GRCm39) |
R173G |
possibly damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,932 (GRCm39) |
K425R |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,315,106 (GRCm39) |
M911T |
probably benign |
Het |
| Cdon |
C |
T |
9: 35,415,377 (GRCm39) |
A1205V |
probably benign |
Het |
| Chfr |
T |
C |
5: 110,301,148 (GRCm39) |
|
probably null |
Het |
| Dixdc1 |
A |
G |
9: 50,580,780 (GRCm39) |
L638P |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,727,042 (GRCm39) |
V526M |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,828,472 (GRCm39) |
D6756E |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Lvrn |
A |
G |
18: 47,023,932 (GRCm39) |
T760A |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,216,411 (GRCm39) |
M1256L |
probably benign |
Het |
| Ndufb11b |
T |
C |
15: 81,865,037 (GRCm39) |
S93P |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,929,998 (GRCm39) |
I280F |
probably damaging |
Het |
| Pdia5 |
T |
C |
16: 35,269,812 (GRCm39) |
R166G |
probably benign |
Het |
| Plcz1 |
A |
G |
6: 139,968,851 (GRCm39) |
Y196H |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,743,294 (GRCm39) |
D191G |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,605,102 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
G |
12: 75,991,859 (GRCm39) |
D1941E |
probably benign |
Het |
| Thsd4 |
C |
A |
9: 59,879,741 (GRCm39) |
A639S |
possibly 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 |
|
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 |
|
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'- GACCACCAGAACTACTTTAATGTTCA -3'
(R):5'- TGAACCAGATTAGAGTTTAATCCAAAC -3'
Sequencing Primer
(F):5'- TGTTCAATTTTACTACC -3'
(R):5'- TGACATTTGTATTTCAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation