Incidental Mutation 'R0855:Ppp2ca'
ID |
82695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp2ca
|
Ensembl Gene |
ENSMUSG00000020349 |
Gene Name |
protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform |
Synonyms |
PP2A |
MMRRC Submission |
039034-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0855 (G1)
|
Quality Score |
223 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
51989651-52013576 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 52012752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 294
(R294H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020608]
|
AlphaFold |
P63330 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020608
AA Change: R294H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000020608 Gene: ENSMUSG00000020349 AA Change: R294H
Domain | Start | End | E-Value | Type |
PP2Ac
|
23 |
293 |
3.46e-155 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142939
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180832
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181262
|
Meta Mutation Damage Score |
0.0984 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
97% (35/36) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
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 |
|
IGL03260:Ppp2ca
|
APN |
11 |
52,003,975 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- acaaaGCAGAGAGAAGTGTGTGGG -3'
(R):5'- TGACCAACAATGTCGCGTCAGC -3'
Sequencing Primer
(F):5'- gattttcttgcctcagtttccc -3'
(R):5'- CATCTTTTGGTCCGTGTGAAAAC -3'
|
Posted On |
2013-11-08 |