Incidental Mutation 'IGL02714:Ppp2r5b'
| ID |
304690 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp2r5b
|
| Ensembl Gene |
ENSMUSG00000024777 |
| Gene Name |
protein phosphatase 2, regulatory subunit B', beta |
| Synonyms |
B'beta |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.348)
|
| Stock # |
IGL02714
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6277795-6285902 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6284737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 42
(R42H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025695]
|
| AlphaFold |
Q6PD28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025695
AA Change: R42H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025695
Gene: ENSMUSG00000024777
AA Change: R42H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
Pfam:B56
|
62 |
467 |
5.2e-187 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153155
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 2A regulatory subunit B family. 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. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
T |
A |
7: 19,492,732 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,682 (GRCm39) |
D2544G |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,290 (GRCm39) |
D59G |
possibly damaging |
Het |
| Ckmt2 |
A |
G |
13: 92,006,427 (GRCm39) |
M306T |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,220,542 (GRCm39) |
E744G |
probably damaging |
Het |
| Gpr139 |
T |
A |
7: 118,744,342 (GRCm39) |
D81V |
possibly damaging |
Het |
| Lsg1 |
T |
C |
16: 30,404,368 (GRCm39) |
|
probably null |
Het |
| Ly9 |
A |
G |
1: 171,432,686 (GRCm39) |
V109A |
possibly damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,346,867 (GRCm39) |
S1806T |
probably benign |
Het |
| Met |
T |
A |
6: 17,491,851 (GRCm39) |
Y204* |
probably null |
Het |
| Or8b35 |
T |
A |
9: 37,904,382 (GRCm39) |
I198N |
possibly damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,568 (GRCm39) |
S798P |
possibly damaging |
Het |
| Prg2 |
T |
A |
2: 84,813,849 (GRCm39) |
I220N |
probably damaging |
Het |
| Prph |
A |
G |
15: 98,954,747 (GRCm39) |
D271G |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,348,424 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,594,458 (GRCm39) |
Y157H |
possibly damaging |
Het |
| Tacstd2 |
A |
T |
6: 67,512,053 (GRCm39) |
I213N |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,511,506 (GRCm39) |
L248P |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,260 (GRCm39) |
I1268N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,895,976 (GRCm39) |
G220D |
probably damaging |
Het |
|
| Other mutations in Ppp2r5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00598:Ppp2r5b
|
APN |
19 |
6,280,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Ppp2r5b
|
APN |
19 |
6,281,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Ppp2r5b
|
UTSW |
19 |
6,284,713 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0114:Ppp2r5b
|
UTSW |
19 |
6,278,461 (GRCm39) |
missense |
probably benign |
|
|
R0333:Ppp2r5b
|
UTSW |
19 |
6,279,077 (GRCm39) |
unclassified |
probably benign |
|
|
R0627:Ppp2r5b
|
UTSW |
19 |
6,282,664 (GRCm39) |
unclassified |
probably benign |
|
|
R1477:Ppp2r5b
|
UTSW |
19 |
6,280,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1628:Ppp2r5b
|
UTSW |
19 |
6,280,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4066:Ppp2r5b
|
UTSW |
19 |
6,279,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Ppp2r5b
|
UTSW |
19 |
6,280,540 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5854:Ppp2r5b
|
UTSW |
19 |
6,280,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Ppp2r5b
|
UTSW |
19 |
6,284,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Ppp2r5b
|
UTSW |
19 |
6,284,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6285:Ppp2r5b
|
UTSW |
19 |
6,280,566 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7087:Ppp2r5b
|
UTSW |
19 |
6,282,580 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7391:Ppp2r5b
|
UTSW |
19 |
6,278,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7576:Ppp2r5b
|
UTSW |
19 |
6,278,514 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7799:Ppp2r5b
|
UTSW |
19 |
6,282,628 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Posted On |
2015-04-16 |
Incidental Mutation