Incidental Mutation 'IGL03260:Ppp2ca'
ID |
414785 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp2ca
|
Ensembl Gene |
ENSMUSG00000020349 |
Gene Name |
protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform |
Synonyms |
PP2A |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03260
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
51989651-52013576 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52003975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 44
(N44S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020608]
|
AlphaFold |
P63330 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020608
AA Change: N44S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020608 Gene: ENSMUSG00000020349 AA Change: N44S
Domain | Start | End | E-Value | Type |
PP2Ac
|
23 |
293 |
3.46e-155 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181262
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null embryos die before gastrulation and exhibit widespread degeneration. Mesoderm is not formed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933406P04Rik |
A |
G |
10: 20,187,071 (GRCm39) |
|
probably benign |
Het |
Abca12 |
A |
G |
1: 71,323,258 (GRCm39) |
L1608P |
probably damaging |
Het |
Akr1b8 |
G |
T |
6: 34,340,394 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
A |
G |
11: 85,107,283 (GRCm39) |
V69A |
probably benign |
Het |
Ces1e |
T |
C |
8: 93,950,545 (GRCm39) |
N79D |
probably benign |
Het |
Cldn34b3 |
A |
G |
X: 75,310,479 (GRCm39) |
T16A |
probably damaging |
Het |
Frmd4b |
A |
T |
6: 97,373,185 (GRCm39) |
F103Y |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,932 (GRCm39) |
F233S |
probably damaging |
Het |
Igkv8-30 |
A |
T |
6: 70,094,339 (GRCm39) |
M24K |
probably damaging |
Het |
Krt72 |
C |
T |
15: 101,686,708 (GRCm39) |
A413T |
probably damaging |
Het |
Lingo4 |
A |
G |
3: 94,309,250 (GRCm39) |
T63A |
probably benign |
Het |
Naa35 |
T |
G |
13: 59,775,699 (GRCm39) |
S125A |
probably benign |
Het |
Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
Or6z7 |
A |
T |
7: 6,483,658 (GRCm39) |
C166S |
probably damaging |
Het |
Padi1 |
T |
C |
4: 140,555,505 (GRCm39) |
H240R |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,097,106 (GRCm39) |
T240A |
probably benign |
Het |
Prg4 |
T |
A |
1: 150,331,378 (GRCm39) |
|
probably benign |
Het |
Rab33a |
A |
G |
X: 47,608,545 (GRCm39) |
E23G |
probably benign |
Het |
Scarb2 |
G |
T |
5: 92,594,296 (GRCm39) |
A422E |
probably damaging |
Het |
Scn4b |
A |
T |
9: 45,058,987 (GRCm39) |
N86I |
probably damaging |
Het |
Serpina1d |
G |
A |
12: 103,730,108 (GRCm39) |
T358I |
probably damaging |
Het |
Slc12a3 |
T |
A |
8: 95,059,870 (GRCm39) |
I172N |
probably damaging |
Het |
Slc18a1 |
T |
C |
8: 69,527,766 (GRCm39) |
E15G |
probably benign |
Het |
Snx7 |
A |
G |
3: 117,575,942 (GRCm39) |
|
probably benign |
Het |
Srpx |
T |
A |
X: 9,921,987 (GRCm39) |
K216* |
probably null |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,838,626 (GRCm39) |
S742P |
probably benign |
Het |
Vmn2r104 |
C |
T |
17: 20,263,083 (GRCm39) |
C126Y |
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,578,616 (GRCm39) |
N92K |
probably damaging |
Het |
|
Other mutations in Ppp2ca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Ppp2ca
|
APN |
11 |
52,012,776 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01767:Ppp2ca
|
APN |
11 |
52,008,882 (GRCm39) |
nonsense |
probably null |
|
IGL01982:Ppp2ca
|
APN |
11 |
51,989,891 (GRCm39) |
missense |
probably benign |
|
R0539:Ppp2ca
|
UTSW |
11 |
52,008,989 (GRCm39) |
critical splice donor site |
probably null |
|
R0788:Ppp2ca
|
UTSW |
11 |
52,003,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0855:Ppp2ca
|
UTSW |
11 |
52,012,752 (GRCm39) |
missense |
probably benign |
0.01 |
R1539:Ppp2ca
|
UTSW |
11 |
52,011,800 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Ppp2ca
|
UTSW |
11 |
51,989,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1766:Ppp2ca
|
UTSW |
11 |
52,012,773 (GRCm39) |
missense |
probably benign |
|
R2267:Ppp2ca
|
UTSW |
11 |
52,008,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R2268:Ppp2ca
|
UTSW |
11 |
52,008,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R3933:Ppp2ca
|
UTSW |
11 |
52,010,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R4199:Ppp2ca
|
UTSW |
11 |
51,989,928 (GRCm39) |
missense |
probably benign |
|
R4992:Ppp2ca
|
UTSW |
11 |
52,004,033 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5261:Ppp2ca
|
UTSW |
11 |
51,989,937 (GRCm39) |
missense |
probably benign |
|
R5684:Ppp2ca
|
UTSW |
11 |
52,004,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R5729:Ppp2ca
|
UTSW |
11 |
52,008,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R5766:Ppp2ca
|
UTSW |
11 |
52,004,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R7186:Ppp2ca
|
UTSW |
11 |
52,010,080 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8073:Ppp2ca
|
UTSW |
11 |
52,010,124 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9014:Ppp2ca
|
UTSW |
11 |
52,009,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R9800:Ppp2ca
|
UTSW |
11 |
52,008,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |