Incidental Mutation 'R3800:Ppp2r1a'
| ID |
272945 |
| 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 |
040759-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3800 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21165716-21186167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21182972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 552
(D552V)
|
| 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: D552V
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: D552V
| 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 |
noncoding transcript
Transcript: ENSMUST00000136975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147983
|
| SMART Domains |
Protein: ENSMUSP00000133334
Gene: ENSMUSG00000007564
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
13 |
43 |
2.1e-5 |
PFAM |
|
Pfam:HEAT
|
52 |
82 |
2.9e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173359
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231928
|
| Meta Mutation Damage Score |
0.5981 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
95% (52/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,385,025 (GRCm39) |
D313E |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,305,046 (GRCm39) |
V2070I |
probably damaging |
Het |
| Adam23 |
C |
T |
1: 63,590,933 (GRCm39) |
R467* |
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,757,951 (GRCm39) |
|
probably benign |
Het |
| Aire |
A |
G |
10: 77,877,889 (GRCm39) |
|
probably null |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,180,031 (GRCm39) |
D268G |
probably damaging |
Het |
| Btbd9 |
T |
C |
17: 30,732,633 (GRCm39) |
I351V |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,548,971 (GRCm39) |
R1138Q |
probably benign |
Het |
| Caskin1 |
T |
G |
17: 24,720,246 (GRCm39) |
V456G |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,643,611 (GRCm39) |
D539G |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,408,803 (GRCm39) |
I2425T |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,392,784 (GRCm39) |
|
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,903,221 (GRCm39) |
G998* |
probably null |
Het |
| Cpe |
A |
G |
8: 65,070,651 (GRCm39) |
V198A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,344,887 (GRCm39) |
M364T |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,141,716 (GRCm39) |
N1396K |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,491 (GRCm39) |
K23E |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,035,423 (GRCm39) |
V3025E |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,187,894 (GRCm39) |
D1545V |
possibly damaging |
Het |
| Fbxw16 |
T |
G |
9: 109,265,665 (GRCm39) |
I385L |
probably damaging |
Het |
| Fnbp1 |
T |
C |
2: 30,923,143 (GRCm39) |
E341G |
probably damaging |
Het |
| Gm9845 |
T |
C |
3: 39,412,642 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,889,866 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Habp4 |
C |
T |
13: 64,321,917 (GRCm39) |
R185C |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,902,867 (GRCm39) |
S1209T |
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,254,752 (GRCm39) |
Y36C |
probably damaging |
Het |
| Inpp5b |
C |
T |
4: 124,679,138 (GRCm39) |
T515I |
probably damaging |
Het |
| Kcnj6 |
G |
A |
16: 94,633,886 (GRCm39) |
T75M |
probably damaging |
Het |
| Map2k4 |
A |
T |
11: 65,581,607 (GRCm39) |
Y368* |
probably null |
Het |
| Mbd6 |
A |
G |
10: 127,121,036 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
G |
A |
3: 36,054,658 (GRCm39) |
R17W |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
C |
2: 165,901,639 (GRCm39) |
M1004T |
possibly damaging |
Het |
| Npnt |
C |
A |
3: 132,612,524 (GRCm39) |
G87V |
probably damaging |
Het |
| Or10a4 |
C |
T |
7: 106,696,938 (GRCm39) |
Q89* |
probably null |
Het |
| Or14j1 |
T |
G |
17: 38,146,848 (GRCm39) |
N319K |
probably benign |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rnf34 |
A |
G |
5: 123,002,273 (GRCm39) |
H77R |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,076,575 (GRCm39) |
V4A |
probably damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,695,904 (GRCm39) |
R403* |
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp6 |
A |
G |
9: 79,994,735 (GRCm39) |
R25G |
possibly damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,707 (GRCm39) |
V272I |
probably benign |
Het |
| Smarcd3 |
T |
A |
5: 24,798,225 (GRCm39) |
K403* |
probably null |
Het |
| Srgap2 |
T |
A |
1: 131,238,297 (GRCm39) |
I672F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,582,941 (GRCm39) |
V22651I |
probably damaging |
Het |
| Ubash3a |
T |
C |
17: 31,450,444 (GRCm39) |
V373A |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,535,355 (GRCm39) |
K36E |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,738 (GRCm39) |
V726A |
possibly damaging |
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 |
|
|
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 |
|
R8150:Ppp2r1a
|
UTSW |
17 |
21,179,700 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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'- AGCCTTGCATAACTGTACTTCTG -3'
(R):5'- GGCAGTGCTTAATAGTTTCCCTAG -3'
Sequencing Primer
(F):5'- GCATAACTGTACTTCTGCCATTCAC -3'
(R):5'- CTGGAACTCATTCTGTAGACCAGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation