Incidental Mutation 'R2154:Ptpn12'
ID |
234601 |
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 |
040157-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2154 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
21191643-21260909 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 21207466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 297
(Q297H)
|
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: Q297H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030556 Gene: ENSMUSG00000028771 AA Change: Q297H
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,208,959 (GRCm39) |
E363G |
probably benign |
Het |
Abca3 |
A |
G |
17: 24,596,693 (GRCm39) |
Y382C |
probably damaging |
Het |
Abca5 |
A |
G |
11: 110,183,000 (GRCm39) |
I1019T |
probably benign |
Het |
Acox3 |
A |
T |
5: 35,762,568 (GRCm39) |
S481C |
probably damaging |
Het |
Ankrd7 |
T |
A |
6: 18,870,030 (GRCm39) |
M261K |
probably benign |
Het |
Aqr |
A |
C |
2: 113,967,485 (GRCm39) |
M510R |
probably damaging |
Het |
Arpc1a |
A |
T |
5: 145,029,369 (GRCm39) |
T56S |
probably benign |
Het |
Asap2 |
A |
T |
12: 21,162,084 (GRCm39) |
T14S |
probably damaging |
Het |
Aspg |
A |
G |
12: 112,087,408 (GRCm39) |
E288G |
probably benign |
Het |
Atp2c2 |
A |
G |
8: 120,482,841 (GRCm39) |
N901S |
probably benign |
Het |
Cabcoco1 |
A |
G |
10: 68,267,092 (GRCm39) |
L205P |
probably damaging |
Het |
Cant1 |
A |
G |
11: 118,302,263 (GRCm39) |
L18P |
probably damaging |
Het |
Cdca2 |
G |
A |
14: 67,914,425 (GRCm39) |
P945S |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,513,753 (GRCm39) |
K522E |
possibly damaging |
Het |
Chek1 |
C |
A |
9: 36,635,279 (GRCm39) |
V35F |
probably damaging |
Het |
Cpa6 |
A |
T |
1: 10,407,547 (GRCm39) |
M330K |
probably damaging |
Het |
Creb3l4 |
G |
T |
3: 90,145,792 (GRCm39) |
N246K |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 39,022,819 (GRCm39) |
V319D |
probably damaging |
Het |
Dapk1 |
T |
A |
13: 60,877,317 (GRCm39) |
S519T |
probably benign |
Het |
Dhx38 |
T |
C |
8: 110,287,306 (GRCm39) |
S221G |
probably benign |
Het |
Dis3l |
T |
A |
9: 64,214,545 (GRCm39) |
N981I |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,870,661 (GRCm39) |
V1467E |
probably damaging |
Het |
Dock4 |
ACCTGCTCTGCC |
ACCTGCTCTGCCTGCTCTGCC |
12: 40,894,547 (GRCm39) |
|
probably benign |
Het |
Dok5 |
G |
A |
2: 170,642,816 (GRCm39) |
G38D |
probably damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,013,821 (GRCm39) |
S631P |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,941,688 (GRCm39) |
S194C |
probably damaging |
Het |
Fcsk |
T |
A |
8: 111,615,704 (GRCm39) |
T542S |
probably benign |
Het |
Garem2 |
T |
C |
5: 30,313,297 (GRCm39) |
S54P |
probably damaging |
Het |
Gdf10 |
T |
C |
14: 33,656,346 (GRCm39) |
I436T |
probably damaging |
Het |
Gfod1 |
T |
C |
13: 43,456,946 (GRCm39) |
T10A |
possibly damaging |
Het |
Gucy1a1 |
A |
G |
3: 82,018,458 (GRCm39) |
|
probably null |
Het |
Heatr5b |
G |
T |
17: 79,138,873 (GRCm39) |
Q90K |
probably benign |
Het |
Ikzf3 |
T |
A |
11: 98,376,475 (GRCm39) |
K211* |
probably null |
Het |
Itgam |
A |
C |
7: 127,684,749 (GRCm39) |
D373A |
probably damaging |
Het |
Itpripl2 |
A |
G |
7: 118,089,107 (GRCm39) |
F484S |
probably damaging |
Het |
Kat6b |
A |
T |
14: 21,718,735 (GRCm39) |
H1138L |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,532,500 (GRCm39) |
K1213R |
probably damaging |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Mmp25 |
T |
A |
17: 23,850,048 (GRCm39) |
Y504F |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,228,797 (GRCm39) |
K38E |
possibly damaging |
Het |
Myh14 |
A |
C |
7: 44,301,853 (GRCm39) |
|
probably null |
Het |
Nedd4l |
T |
A |
18: 65,343,401 (GRCm39) |
H820Q |
probably damaging |
Het |
Nfkb1 |
T |
C |
3: 135,307,240 (GRCm39) |
T562A |
probably benign |
Het |
Or8b49 |
G |
T |
9: 38,505,707 (GRCm39) |
L63F |
probably damaging |
Het |
Pds5a |
A |
T |
5: 65,807,841 (GRCm39) |
V464E |
probably damaging |
Het |
Peak1 |
C |
T |
9: 56,114,496 (GRCm39) |
V452M |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,973,549 (GRCm39) |
Y372C |
unknown |
Het |
Poc1a |
T |
A |
9: 106,162,773 (GRCm39) |
|
probably null |
Het |
Prss33 |
C |
T |
17: 24,053,817 (GRCm39) |
V87M |
probably damaging |
Het |
Psmc2 |
C |
G |
5: 22,008,127 (GRCm39) |
L344V |
possibly damaging |
Het |
Rabgap1 |
T |
C |
2: 37,365,453 (GRCm39) |
V242A |
probably damaging |
Het |
Rad1 |
C |
A |
15: 10,486,721 (GRCm39) |
H39Q |
possibly damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,986 (GRCm39) |
H636R |
probably benign |
Het |
Samd9l |
C |
T |
6: 3,372,945 (GRCm39) |
D1439N |
possibly damaging |
Het |
Sbno1 |
A |
T |
5: 124,516,574 (GRCm39) |
D1266E |
probably benign |
Het |
Sidt2 |
T |
C |
9: 45,856,638 (GRCm39) |
D477G |
probably damaging |
Het |
Slc22a13 |
T |
C |
9: 119,037,753 (GRCm39) |
K125R |
probably benign |
Het |
Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,139,402 (GRCm39) |
Y771H |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,757,299 (GRCm39) |
|
probably benign |
Het |
Spinkl |
A |
T |
18: 44,302,194 (GRCm39) |
N32K |
probably benign |
Het |
Stxbp1 |
T |
A |
2: 32,692,868 (GRCm39) |
I383F |
probably damaging |
Het |
Taf3 |
C |
T |
2: 9,956,377 (GRCm39) |
E597K |
possibly damaging |
Het |
Tln2 |
T |
C |
9: 67,209,842 (GRCm39) |
T432A |
probably damaging |
Het |
Tmco6 |
T |
C |
18: 36,874,740 (GRCm39) |
V409A |
probably benign |
Het |
Tstd2 |
T |
C |
4: 46,129,235 (GRCm39) |
T198A |
probably damaging |
Het |
Vmn1r230 |
T |
A |
17: 21,067,063 (GRCm39) |
M84K |
probably damaging |
Het |
Vmn1r45 |
T |
A |
6: 89,910,965 (GRCm39) |
S2C |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,816,805 (GRCm39) |
T259S |
probably benign |
Het |
Vmn2r70 |
A |
G |
7: 85,212,923 (GRCm39) |
S495P |
possibly damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,167,584 (GRCm39) |
R613* |
probably null |
Het |
Yme1l1 |
T |
C |
2: 23,052,520 (GRCm39) |
L58P |
probably damaging |
Het |
Zan |
G |
A |
5: 137,412,511 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,466,801 (GRCm39) |
T2320A |
possibly damaging |
Het |
Zfp407 |
T |
C |
18: 84,227,774 (GRCm39) |
D1945G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAGTTAGTGACCCACATCAG -3'
(R):5'- CTCGGCAGTACAAACAAAGG -3'
Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- ACAAAGGTAGAGTTGGTTTTTCTC -3'
|
Posted On |
2014-10-01 |