Incidental Mutation 'R6934:Ppp2r1a'
| ID |
540224 |
| 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 |
045049-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21165716-21186167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21181895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 471
(E471G)
|
| 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: E471G
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: E471G
| 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 |
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
A |
8: 122,266,712 (GRCm39) |
Y58F |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,218,251 (GRCm39) |
V58A |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,322,520 (GRCm39) |
M289V |
probably benign |
Het |
| Bhmt2 |
A |
T |
13: 93,798,819 (GRCm39) |
I334N |
probably benign |
Het |
| Copa |
T |
A |
1: 171,938,253 (GRCm39) |
I513N |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,800 (GRCm39) |
S2310P |
probably benign |
Het |
| Ctif |
G |
A |
18: 75,568,431 (GRCm39) |
T569M |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,691,225 (GRCm39) |
M231K |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,653,824 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,252 (GRCm39) |
I424V |
probably damaging |
Het |
| Foxred2 |
G |
T |
15: 77,836,530 (GRCm39) |
C328* |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,038,738 (GRCm39) |
H590Q |
probably damaging |
Het |
| Gm5475 |
T |
C |
15: 100,325,007 (GRCm39) |
|
probably benign |
Het |
| Gmip |
A |
G |
8: 70,273,576 (GRCm39) |
T956A |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,281 (GRCm39) |
D106E |
probably benign |
Het |
| Irs2 |
A |
T |
8: 11,054,697 (GRCm39) |
I1245N |
probably damaging |
Het |
| Kcnk1 |
A |
G |
8: 126,752,129 (GRCm39) |
Y245C |
probably damaging |
Het |
| Krtap4-9 |
A |
T |
11: 99,676,708 (GRCm39) |
R210* |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,081,538 (GRCm39) |
D1325G |
probably benign |
Het |
| Lyz3 |
C |
T |
10: 117,074,413 (GRCm39) |
D25N |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,793,121 (GRCm39) |
V361E |
probably damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,131,813 (GRCm39) |
I92T |
possibly damaging |
Het |
| Nup214 |
A |
T |
2: 31,872,683 (GRCm39) |
R242* |
probably null |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or13a24 |
T |
G |
7: 140,154,564 (GRCm39) |
L166R |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,026 (GRCm39) |
V148A |
probably benign |
Het |
| Or8b1c |
T |
G |
9: 38,384,472 (GRCm39) |
I143S |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,539,523 (GRCm39) |
K39E |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,912,373 (GRCm39) |
G736D |
probably benign |
Het |
| Prrc2c |
G |
A |
1: 162,548,074 (GRCm39) |
P161S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,352,088 (GRCm39) |
C144R |
probably benign |
Het |
| Slc29a4 |
G |
A |
5: 142,698,713 (GRCm39) |
V125I |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,305,541 (GRCm39) |
T322A |
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,244,969 (GRCm39) |
M591K |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,176 (GRCm39) |
I1478V |
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,188,998 (GRCm39) |
|
probably null |
Het |
| Tmem150c |
C |
T |
5: 100,243,465 (GRCm39) |
|
probably null |
Het |
| Tmem39b |
T |
A |
4: 129,572,366 (GRCm39) |
H412L |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,635 (GRCm39) |
H389Q |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,202,158 (GRCm39) |
I1595T |
probably damaging |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,044,967 (GRCm39) |
Y461* |
probably null |
Het |
| Vps13a |
T |
C |
19: 16,653,558 (GRCm39) |
H1941R |
probably 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 |
|
|
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 |
|
|
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'- TGGCCAAAAGGTGCTGTATG -3'
(R):5'- CAAGCCAAACATCTGGGTAGAC -3'
Sequencing Primer
(F):5'- CCAAAAGGTGCTGTATGAGAAAG -3'
(R):5'- CCAAACATCTGGGTAGACAAAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation