Incidental Mutation 'R8150:Ppp2r1a'
ID |
632929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp2r1a
|
Ensembl Gene |
ENSMUSG00000007564 |
Gene Name |
protein phosphatase 2, regulatory subunit A, alpha |
Synonyms |
protein phosphatase PP2A, PR65, PP2A, 6330556D22Rik |
MMRRC Submission |
067576-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8150 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
21165716-21186167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 21179700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 348
(V348G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000007708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007708]
[ENSMUST00000147983]
[ENSMUST00000173658]
|
AlphaFold |
Q76MZ3 |
PDB Structure |
Crystal structure of a protein phosphatase 2A (PP2A) holoenzyme. [X-RAY DIFFRACTION]
Crystal structure of the full-length simian virus 40 small t antigen complexed with the protein phosphatase 2A Aalpha subunit [X-RAY DIFFRACTION]
Structural Basis of PP2A and Sgo interaction [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007708
AA Change: V348G
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000007708 Gene: ENSMUSG00000007564 AA Change: V348G
Domain | Start | End | E-Value | Type |
Pfam:HEAT
|
166 |
196 |
4.3e-6 |
PFAM |
Pfam:HEAT_2
|
170 |
266 |
1.7e-8 |
PFAM |
Pfam:HEAT
|
283 |
313 |
3.4e-5 |
PFAM |
Pfam:HEAT_2
|
366 |
467 |
5.3e-12 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147983
AA Change: V120G
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133334 Gene: ENSMUSG00000007564 AA Change: V120G
Domain | Start | End | E-Value | Type |
Pfam:HEAT
|
13 |
43 |
2.1e-5 |
PFAM |
Pfam:HEAT
|
52 |
82 |
2.9e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173658
|
SMART Domains |
Protein: ENSMUSP00000133778 Gene: ENSMUSG00000007564
Domain | Start | End | E-Value | Type |
PDB:2PF4|D
|
1 |
72 |
3e-40 |
PDB |
SCOP:d1b3ua_
|
2 |
86 |
3e-12 |
SMART |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a constant regulatory subunit of protein phosphatase 2. 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 constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] PHENOTYPE: Mice homozygous for a targeted allele that remove exons 5 and 6 exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased benzopyrene-induced lung tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,538,635 (GRCm39) |
M129L |
probably benign |
Het |
Aadacl2fm1 |
A |
G |
3: 59,843,558 (GRCm39) |
D84G |
probably damaging |
Het |
Abca2 |
T |
C |
2: 25,337,393 (GRCm39) |
I2416T |
probably damaging |
Het |
Abca3 |
A |
G |
17: 24,615,522 (GRCm39) |
D871G |
probably benign |
Het |
Akap9 |
C |
T |
5: 4,011,982 (GRCm39) |
T895I |
probably damaging |
Het |
Aldh8a1 |
A |
G |
10: 21,271,444 (GRCm39) |
E390G |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,741,162 (GRCm39) |
D1574V |
|
Het |
Blmh |
T |
C |
11: 76,859,455 (GRCm39) |
V352A |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,259,540 (GRCm39) |
L1270P |
probably damaging |
Het |
Ccdc80 |
T |
A |
16: 44,947,792 (GRCm39) |
H923Q |
probably damaging |
Het |
Cdc27 |
G |
A |
11: 104,406,286 (GRCm39) |
H610Y |
probably damaging |
Het |
Cep126 |
T |
C |
9: 8,101,791 (GRCm39) |
I248V |
probably benign |
Het |
Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
Chd3 |
G |
A |
11: 69,254,510 (GRCm39) |
H201Y |
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,007,152 (GRCm39) |
T292A |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,763,558 (GRCm39) |
T1531I |
probably damaging |
Het |
Gm6871 |
T |
C |
7: 41,197,185 (GRCm39) |
T7A |
|
Het |
Kank1 |
A |
G |
19: 25,388,163 (GRCm39) |
D612G |
possibly damaging |
Het |
Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
Mfsd6 |
T |
A |
1: 52,747,800 (GRCm39) |
D355V |
probably benign |
Het |
Myo7a |
T |
C |
7: 97,712,846 (GRCm39) |
K1710E |
probably benign |
Het |
Or13d1 |
C |
G |
4: 52,970,788 (GRCm39) |
H56D |
probably damaging |
Het |
Or52ae7 |
A |
G |
7: 103,119,459 (GRCm39) |
D71G |
probably damaging |
Het |
Pcdha8 |
G |
A |
18: 37,126,264 (GRCm39) |
V249M |
probably damaging |
Het |
Pglyrp3 |
A |
G |
3: 91,933,790 (GRCm39) |
D145G |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,410,055 (GRCm39) |
K2521E |
possibly damaging |
Het |
Pld3 |
A |
G |
7: 27,232,086 (GRCm39) |
V398A |
probably damaging |
Het |
Plxnb1 |
A |
T |
9: 108,941,146 (GRCm39) |
T1642S |
probably damaging |
Het |
Prdm2 |
C |
A |
4: 142,859,303 (GRCm39) |
C1329F |
possibly damaging |
Het |
Ric8a |
G |
T |
7: 140,441,269 (GRCm39) |
G423V |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,658,593 (GRCm39) |
D94G |
probably benign |
Het |
Serpina3f |
T |
C |
12: 104,185,769 (GRCm39) |
F325L |
probably damaging |
Het |
Sin3a |
T |
A |
9: 57,034,568 (GRCm39) |
V1247E |
possibly damaging |
Het |
Skint5 |
C |
A |
4: 113,798,087 (GRCm39) |
M165I |
probably benign |
Het |
Slc19a3 |
T |
G |
1: 83,000,216 (GRCm39) |
Y267S |
probably damaging |
Het |
Slc22a27 |
A |
T |
19: 7,887,390 (GRCm39) |
F196Y |
possibly damaging |
Het |
Slc5a4b |
A |
T |
10: 75,939,680 (GRCm39) |
I152N |
possibly damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,982,519 (GRCm39) |
V768E |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,063,534 (GRCm39) |
M988K |
probably benign |
Het |
Top2b |
T |
A |
14: 16,393,291 (GRCm38) |
F317I |
probably damaging |
Het |
Wfdc8 |
A |
T |
2: 164,439,455 (GRCm39) |
L309* |
probably null |
Het |
Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp949 |
C |
T |
9: 88,452,053 (GRCm39) |
T541I |
probably benign |
Het |
Zkscan16 |
T |
A |
4: 58,952,407 (GRCm39) |
I235N |
probably benign |
Het |
|
Other mutations in Ppp2r1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00959:Ppp2r1a
|
APN |
17 |
21,181,840 (GRCm39) |
unclassified |
probably benign |
|
IGL01815:Ppp2r1a
|
APN |
17 |
21,177,094 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01923:Ppp2r1a
|
APN |
17 |
21,185,731 (GRCm39) |
makesense |
probably null |
|
IGL02411:Ppp2r1a
|
APN |
17 |
21,171,596 (GRCm39) |
splice site |
probably benign |
|
IGL02694:Ppp2r1a
|
APN |
17 |
21,171,702 (GRCm39) |
splice site |
probably benign |
|
IGL02742:Ppp2r1a
|
APN |
17 |
21,179,265 (GRCm39) |
missense |
probably benign |
0.01 |
Altricial
|
UTSW |
17 |
21,174,979 (GRCm39) |
critical splice donor site |
probably null |
|
Dolmas
|
UTSW |
17 |
21,180,893 (GRCm39) |
nonsense |
probably null |
|
R0032:Ppp2r1a
|
UTSW |
17 |
21,165,846 (GRCm39) |
critical splice donor site |
probably benign |
|
R0403:Ppp2r1a
|
UTSW |
17 |
21,177,303 (GRCm39) |
missense |
probably damaging |
0.96 |
R1170:Ppp2r1a
|
UTSW |
17 |
21,171,593 (GRCm39) |
splice site |
probably benign |
|
R1652:Ppp2r1a
|
UTSW |
17 |
21,176,236 (GRCm39) |
missense |
probably benign |
0.03 |
R1857:Ppp2r1a
|
UTSW |
17 |
21,181,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2215:Ppp2r1a
|
UTSW |
17 |
21,182,005 (GRCm39) |
splice site |
probably null |
|
R3800:Ppp2r1a
|
UTSW |
17 |
21,182,972 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4013:Ppp2r1a
|
UTSW |
17 |
21,171,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R4483:Ppp2r1a
|
UTSW |
17 |
21,176,072 (GRCm39) |
missense |
probably benign |
0.05 |
R5014:Ppp2r1a
|
UTSW |
17 |
21,179,101 (GRCm39) |
splice site |
probably null |
|
R5421:Ppp2r1a
|
UTSW |
17 |
21,176,968 (GRCm39) |
missense |
probably benign |
|
R5615:Ppp2r1a
|
UTSW |
17 |
21,179,249 (GRCm39) |
missense |
probably benign |
0.00 |
R5945:Ppp2r1a
|
UTSW |
17 |
21,179,675 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5986:Ppp2r1a
|
UTSW |
17 |
21,171,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R6466:Ppp2r1a
|
UTSW |
17 |
21,180,893 (GRCm39) |
nonsense |
probably null |
|
R6727:Ppp2r1a
|
UTSW |
17 |
21,176,087 (GRCm39) |
missense |
probably benign |
0.07 |
R6738:Ppp2r1a
|
UTSW |
17 |
21,174,979 (GRCm39) |
critical splice donor site |
probably null |
|
R6934:Ppp2r1a
|
UTSW |
17 |
21,181,895 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7549:Ppp2r1a
|
UTSW |
17 |
21,182,944 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7904:Ppp2r1a
|
UTSW |
17 |
21,182,003 (GRCm39) |
critical splice donor site |
probably null |
|
R7922:Ppp2r1a
|
UTSW |
17 |
21,174,879 (GRCm39) |
missense |
probably benign |
|
R7998:Ppp2r1a
|
UTSW |
17 |
21,181,901 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8204:Ppp2r1a
|
UTSW |
17 |
21,177,035 (GRCm39) |
missense |
probably benign |
0.20 |
R9347:Ppp2r1a
|
UTSW |
17 |
21,181,877 (GRCm39) |
missense |
probably benign |
0.18 |
R9352:Ppp2r1a
|
UTSW |
17 |
21,185,499 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9528:Ppp2r1a
|
UTSW |
17 |
21,176,153 (GRCm39) |
missense |
probably benign |
0.21 |
R9712:Ppp2r1a
|
UTSW |
17 |
21,179,058 (GRCm39) |
missense |
probably damaging |
0.99 |
R9772:Ppp2r1a
|
UTSW |
17 |
21,181,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCCTGCCTATGAAAAGCAG -3'
(R):5'- GCATGTCTGACAAGAACGAGTG -3'
Sequencing Primer
(F):5'- CCTGCCTATGAAAAGCAGAAGACTG -3'
(R):5'- TGAACAAGCAGACACTTTTGCCTG -3'
|
Posted On |
2020-06-30 |