Incidental Mutation 'R0034:Ppp2r2c'
| ID |
15356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r2c
|
| Ensembl Gene |
ENSMUSG00000029120 |
| Gene Name |
protein phosphatase 2, regulatory subunit B, gamma |
| Synonyms |
6330548O06Rik, IMYPNO1, PR52 |
| MMRRC Submission |
038328-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.537)
|
| Stock # |
R0034 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37025857-37112422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37084883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 115
(I115V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031003]
[ENSMUST00000201156]
|
| AlphaFold |
Q8BG02 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031003
AA Change: I115V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000031003
Gene: ENSMUSG00000029120
AA Change: I115V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
1.99e0 |
SMART |
|
WD40
|
79 |
119 |
2.38e1 |
SMART |
|
WD40
|
161 |
200 |
1.11e0 |
SMART |
|
WD40
|
211 |
251 |
5.7e1 |
SMART |
|
WD40
|
270 |
308 |
4.11e1 |
SMART |
|
Blast:WD40
|
312 |
366 |
1e-24 |
BLAST |
|
WD40
|
402 |
439 |
3.07e1 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000201156
|
| SMART Domains |
Protein: ENSMUSP00000144342
Gene: ENSMUSG00000029120
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kb0a2
|
4 |
51 |
3e-3 |
SMART |
|
Blast:WD40
|
13 |
52 |
1e-21 |
BLAST |
|
PDB:3DW8|E
|
21 |
64 |
5e-16 |
PDB |
|
| Meta Mutation Damage Score |
0.0683 |
| Coding Region Coverage |
- 1x: 76.6%
- 3x: 64.3%
- 10x: 35.1%
- 20x: 16.8%
|
| Validation Efficiency |
87% (59/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 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. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
| Chrna7 |
T |
G |
7: 62,798,354 (GRCm39) |
K109N |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,841 (GRCm39) |
H481R |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
T |
A |
17: 75,354,563 (GRCm39) |
|
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
C |
A |
6: 85,794,868 (GRCm39) |
A31S |
probably benign |
Het |
| Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,966,174 (GRCm39) |
|
probably benign |
Het |
| Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
| Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,523,627 (GRCm39) |
L137P |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
| Usp50 |
T |
C |
2: 126,619,895 (GRCm39) |
E139G |
possibly damaging |
Het |
| Zfp949 |
A |
T |
9: 88,449,693 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
Het |
|
| Other mutations in Ppp2r2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Ppp2r2c
|
APN |
5 |
37,104,465 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01583:Ppp2r2c
|
APN |
5 |
37,026,166 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL01662:Ppp2r2c
|
APN |
5 |
37,083,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01674:Ppp2r2c
|
APN |
5 |
37,097,570 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02027:Ppp2r2c
|
APN |
5 |
37,109,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03118:Ppp2r2c
|
APN |
5 |
37,083,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Ppp2r2c
|
UTSW |
5 |
37,109,748 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4877:Ppp2r2c
|
UTSW |
5 |
37,026,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4980:Ppp2r2c
|
UTSW |
5 |
37,109,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5838:Ppp2r2c
|
UTSW |
5 |
37,097,531 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6291:Ppp2r2c
|
UTSW |
5 |
37,097,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6940:Ppp2r2c
|
UTSW |
5 |
37,084,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7405:Ppp2r2c
|
UTSW |
5 |
37,104,486 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7695:Ppp2r2c
|
UTSW |
5 |
37,104,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Ppp2r2c
|
UTSW |
5 |
37,097,450 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8307:Ppp2r2c
|
UTSW |
5 |
37,104,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Ppp2r2c
|
UTSW |
5 |
37,080,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9715:Ppp2r2c
|
UTSW |
5 |
37,097,488 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0013:Ppp2r2c
|
UTSW |
5 |
37,083,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ppp2r2c
|
UTSW |
5 |
37,088,621 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2012-12-17 |
Incidental Mutation