Incidental Mutation 'R4566:Ppp2cb'
ID |
343322 |
Institutional Source |
Beutler Lab
|
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 # |
R4566 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
34089653-34109469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34100723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 48
(V48A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009774]
|
AlphaFold |
P62715 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009774
AA Change: V48A
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000009774 Gene: ENSMUSG00000009630 AA Change: V48A
Domain | Start | End | E-Value | Type |
PP2Ac
|
23 |
293 |
2.48e-156 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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 |
Adgrv1 |
T |
C |
13: 81,567,927 (GRCm39) |
E5082G |
probably damaging |
Het |
Apol7a |
A |
T |
15: 77,273,951 (GRCm39) |
Y170* |
probably null |
Het |
Cfhr1 |
T |
A |
1: 139,481,386 (GRCm39) |
I165F |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Espnl |
C |
A |
1: 91,272,301 (GRCm39) |
P510T |
possibly damaging |
Het |
Fbxw4 |
A |
G |
19: 45,580,225 (GRCm39) |
V258A |
probably benign |
Het |
Foxq1 |
T |
C |
13: 31,743,471 (GRCm39) |
M191T |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
Limk1 |
A |
G |
5: 134,715,537 (GRCm39) |
L38P |
probably benign |
Het |
Mfhas1 |
C |
T |
8: 36,058,203 (GRCm39) |
R893C |
probably damaging |
Het |
Mug2 |
G |
A |
6: 122,056,597 (GRCm39) |
V1181I |
probably benign |
Het |
Or52ac1 |
A |
T |
7: 104,245,823 (GRCm39) |
C188* |
probably null |
Het |
Pithd1 |
A |
G |
4: 135,704,548 (GRCm39) |
V56A |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,494,338 (GRCm39) |
K93E |
probably benign |
Het |
Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
Rrs1 |
T |
C |
1: 9,616,452 (GRCm39) |
F235S |
probably damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,293 (GRCm39) |
L849F |
probably damaging |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Trps1 |
A |
G |
15: 50,695,074 (GRCm39) |
V116A |
probably damaging |
Het |
Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
Yy1 |
T |
A |
12: 108,778,889 (GRCm39) |
I296K |
probably damaging |
Het |
|
Other mutations in Ppp2cb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01566:Ppp2cb
|
APN |
8 |
34,101,791 (GRCm39) |
missense |
probably benign |
0.38 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTATCTCTTCATAGGGTATTGG -3'
(R):5'- GCAACACTGACATTCTTTTGCC -3'
Sequencing Primer
(F):5'- ACTTCCAAGTGGTTTCCC -3'
(R):5'- GTATCCGTCAACCATACCTTTAATG -3'
|
Posted On |
2015-09-24 |