Incidental Mutation 'IGL01566:Ppp2cb'
ID |
90993 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppp2cb
|
Ensembl Gene |
ENSMUSG00000009630 |
Gene Name |
protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform |
Synonyms |
PP2Ac, D8Ertd766e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01566
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
34089653-34109469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34101791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 110
(R110S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009774]
|
AlphaFold |
P62715 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009774
AA Change: R110S
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000009774 Gene: ENSMUSG00000009630 AA Change: R110S
Domain | Start | End | E-Value | Type |
PP2Ac
|
23 |
293 |
2.48e-156 |
SMART |
|
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 a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010] PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
C |
9: 21,447,285 (GRCm39) |
V149A |
possibly damaging |
Het |
Casc3 |
T |
C |
11: 98,714,227 (GRCm39) |
|
probably null |
Het |
Dhdds |
T |
C |
4: 133,718,648 (GRCm39) |
I162V |
probably damaging |
Het |
Dsg1a |
T |
C |
18: 20,469,840 (GRCm39) |
|
probably benign |
Het |
E030025P04Rik |
T |
A |
11: 109,034,714 (GRCm39) |
D58V |
unknown |
Het |
Gcn1 |
A |
G |
5: 115,749,117 (GRCm39) |
N1883S |
probably damaging |
Het |
Gucy1a2 |
T |
C |
9: 3,634,661 (GRCm39) |
L235P |
probably damaging |
Het |
Jkampl |
G |
A |
6: 73,445,673 (GRCm39) |
T292I |
probably damaging |
Het |
Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
Mme |
T |
C |
3: 63,269,350 (GRCm39) |
|
probably benign |
Het |
Nr6a1 |
G |
T |
2: 38,617,901 (GRCm39) |
Q419K |
probably benign |
Het |
Pcolce |
A |
G |
5: 137,603,422 (GRCm39) |
|
probably benign |
Het |
Slc35f1 |
A |
G |
10: 52,965,551 (GRCm39) |
Y322C |
probably damaging |
Het |
Slc5a3 |
T |
C |
16: 91,874,465 (GRCm39) |
V174A |
probably damaging |
Het |
St8sia4 |
G |
T |
1: 95,581,482 (GRCm39) |
R87S |
probably benign |
Het |
Tfdp2 |
A |
G |
9: 96,177,083 (GRCm39) |
E5G |
probably damaging |
Het |
Tmem161b |
T |
C |
13: 84,442,881 (GRCm39) |
I267T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,782,365 (GRCm39) |
L957P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,612,445 (GRCm39) |
|
probably benign |
Het |
Ubqln1 |
A |
T |
13: 58,327,481 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
C |
5: 102,044,454 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ppp2cb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02985:Ppp2cb
|
APN |
8 |
34,105,474 (GRCm39) |
unclassified |
probably benign |
|
IGL03251:Ppp2cb
|
APN |
8 |
34,100,679 (GRCm39) |
splice site |
probably benign |
|
Breakthrough
|
UTSW |
8 |
34,105,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R0940:Ppp2cb
|
UTSW |
8 |
34,105,689 (GRCm39) |
splice site |
probably null |
|
R1688:Ppp2cb
|
UTSW |
8 |
34,105,480 (GRCm39) |
missense |
probably benign |
0.02 |
R2187:Ppp2cb
|
UTSW |
8 |
34,100,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2350:Ppp2cb
|
UTSW |
8 |
34,101,855 (GRCm39) |
missense |
probably null |
1.00 |
R4418:Ppp2cb
|
UTSW |
8 |
34,107,077 (GRCm39) |
missense |
probably benign |
|
R4566:Ppp2cb
|
UTSW |
8 |
34,100,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6187:Ppp2cb
|
UTSW |
8 |
34,105,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R6990:Ppp2cb
|
UTSW |
8 |
34,109,161 (GRCm39) |
missense |
probably benign |
0.01 |
R7477:Ppp2cb
|
UTSW |
8 |
34,105,502 (GRCm39) |
missense |
probably benign |
0.01 |
R9018:Ppp2cb
|
UTSW |
8 |
34,105,787 (GRCm39) |
missense |
probably benign |
0.17 |
R9301:Ppp2cb
|
UTSW |
8 |
34,090,038 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Posted On |
2013-12-09 |