Incidental Mutation 'IGL03297:Ppp2r5a'
| ID |
416115 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp2r5a
|
| Ensembl Gene |
ENSMUSG00000026626 |
| Gene Name |
protein phosphatase 2, regulatory subunit B', alpha |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
IGL03297
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191084178-191129238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 191086959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 360
(V360I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027940]
[ENSMUST00000067976]
|
| AlphaFold |
Q6PD03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027940
|
| SMART Domains |
Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
36 |
N/A |
INTRINSIC |
|
Pfam:TMEM206
|
55 |
349 |
7.2e-173 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067976
AA Change: V360I
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626
AA Change: V360I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
|
Pfam:B56
|
56 |
462 |
3.6e-193 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195605
|
| 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 an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,341,663 (GRCm39) |
G1624S |
probably damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,620,173 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,860,158 (GRCm39) |
T760N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,225,539 (GRCm39) |
M196V |
probably benign |
Het |
| Cd209d |
T |
C |
8: 3,928,476 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cdh5 |
T |
A |
8: 104,854,831 (GRCm39) |
F253Y |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,427,784 (GRCm39) |
E610G |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,001,158 (GRCm39) |
N579S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,059,432 (GRCm39) |
S2101* |
probably null |
Het |
| Dgkq |
C |
A |
5: 108,798,140 (GRCm39) |
R706L |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,727 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr34 |
A |
G |
X: 13,505,681 (GRCm39) |
Y70C |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,639,374 (GRCm39) |
L914Q |
probably benign |
Het |
| Ifitm6 |
T |
C |
7: 140,595,948 (GRCm39) |
Y115C |
probably damaging |
Het |
| Iqcg |
G |
T |
16: 32,856,002 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,369,967 (GRCm39) |
D909G |
probably damaging |
Het |
| Nefl |
A |
G |
14: 68,321,673 (GRCm39) |
T88A |
possibly damaging |
Het |
| Nfatc2 |
T |
A |
2: 168,378,138 (GRCm39) |
N509I |
probably damaging |
Het |
| Nkd1 |
T |
C |
8: 89,300,902 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
T |
C |
1: 39,331,771 (GRCm39) |
V62A |
possibly damaging |
Het |
| Oas2 |
T |
G |
5: 120,873,150 (GRCm39) |
D635A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,951,712 (GRCm39) |
V4014M |
possibly damaging |
Het |
| Ogfr |
C |
A |
2: 180,236,200 (GRCm39) |
H262N |
possibly damaging |
Het |
| Or10aa1 |
T |
G |
1: 173,869,683 (GRCm39) |
S56A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,505,821 (GRCm39) |
L101F |
probably benign |
Het |
| Pa2g4 |
T |
C |
10: 128,399,105 (GRCm39) |
D104G |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,467,045 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,688,943 (GRCm39) |
K912I |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,202 (GRCm39) |
S938P |
probably benign |
Het |
| Slc15a1 |
A |
C |
14: 121,724,096 (GRCm39) |
I170S |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,656,695 (GRCm39) |
N1924S |
probably benign |
Het |
| Sprr4 |
G |
A |
3: 92,407,731 (GRCm39) |
P24S |
unknown |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,369,575 (GRCm39) |
A687V |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,973 (GRCm39) |
I648F |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,969 (GRCm39) |
C162* |
probably null |
Het |
|
| Other mutations in Ppp2r5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1640:Ppp2r5a
|
UTSW |
1 |
191,086,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3005:Ppp2r5a
|
UTSW |
1 |
191,091,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Ppp2r5a
|
UTSW |
1 |
191,088,589 (GRCm39) |
unclassified |
probably benign |
|
|
R5730:Ppp2r5a
|
UTSW |
1 |
191,104,732 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5769:Ppp2r5a
|
UTSW |
1 |
191,104,863 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5783:Ppp2r5a
|
UTSW |
1 |
191,086,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6215:Ppp2r5a
|
UTSW |
1 |
191,094,447 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7311:Ppp2r5a
|
UTSW |
1 |
191,089,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Ppp2r5a
|
UTSW |
1 |
191,128,532 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7545:Ppp2r5a
|
UTSW |
1 |
191,104,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8934:Ppp2r5a
|
UTSW |
1 |
191,100,835 (GRCm39) |
splice site |
probably benign |
|
|
R9166:Ppp2r5a
|
UTSW |
1 |
191,128,504 (GRCm39) |
missense |
probably benign |
0.26 |
|
V5622:Ppp2r5a
|
UTSW |
1 |
191,091,198 (GRCm39) |
missense |
probably benign |
0.12 |
|
V5622:Ppp2r5a
|
UTSW |
1 |
191,091,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation