Incidental Mutation 'R6727:Ppp2r1a'
| ID |
529929 |
| 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 |
044845-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6727 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21165716-21186167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21176087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 103
(V103E)
|
| 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 |
probably benign
Transcript: ENSMUST00000007708
AA Change: V103E
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
AA Change: V103E
| 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 |
|
| Meta Mutation Damage Score |
0.5557 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010109A12Rik |
A |
G |
5: 93,354,434 (GRCm39) |
|
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,896,760 (GRCm39) |
V283I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Allc |
T |
A |
12: 28,607,388 (GRCm39) |
H288L |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,702,576 (GRCm39) |
I279T |
possibly damaging |
Het |
| Atp6v1b1 |
A |
G |
6: 83,728,857 (GRCm39) |
|
probably benign |
Het |
| Barhl1 |
G |
A |
2: 28,805,495 (GRCm39) |
P66L |
probably benign |
Het |
| Brd8dc |
T |
A |
18: 34,713,894 (GRCm39) |
M244L |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,943,856 (GRCm39) |
D352V |
probably benign |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,781 (GRCm39) |
K122* |
probably null |
Het |
| Dnai1 |
G |
T |
4: 41,625,308 (GRCm39) |
R424L |
probably benign |
Het |
| Dync1li2 |
G |
T |
8: 105,167,167 (GRCm39) |
H79Q |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,704,015 (GRCm39) |
V415A |
possibly damaging |
Het |
| Fgb |
C |
T |
3: 82,954,094 (GRCm39) |
S48N |
possibly damaging |
Het |
| Gm5624 |
T |
C |
14: 44,799,332 (GRCm39) |
D31G |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,403,432 (GRCm39) |
I226F |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,622 (GRCm39) |
V284E |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,683,902 (GRCm39) |
S184G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,193 (GRCm39) |
S272G |
probably damaging |
Het |
| Kcnk16 |
C |
T |
14: 20,312,997 (GRCm39) |
A106T |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,283,984 (GRCm39) |
V876A |
probably damaging |
Het |
| Large2 |
G |
T |
2: 92,201,215 (GRCm39) |
|
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,847 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
G |
9: 86,464,851 (GRCm39) |
L533P |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,477,986 (GRCm39) |
|
probably null |
Het |
| Nova2 |
C |
A |
7: 18,692,419 (GRCm39) |
T516K |
probably damaging |
Het |
| Or1l4 |
T |
A |
2: 37,092,118 (GRCm39) |
N288K |
probably damaging |
Het |
| Or56b1 |
T |
C |
7: 104,285,094 (GRCm39) |
I71T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Prl3d3 |
G |
A |
13: 27,341,147 (GRCm39) |
|
probably null |
Het |
| Rhbdf1 |
G |
T |
11: 32,164,042 (GRCm39) |
A288E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,321,147 (GRCm39) |
S1202P |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,222,154 (GRCm39) |
V106A |
probably benign |
Het |
| Slc4a4 |
T |
G |
5: 89,318,624 (GRCm39) |
S640A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
| Tek |
G |
T |
4: 94,741,732 (GRCm39) |
G830* |
probably null |
Het |
| Tgfb1 |
A |
T |
7: 25,388,587 (GRCm39) |
|
probably benign |
Het |
| Themis |
T |
C |
10: 28,657,903 (GRCm39) |
I157T |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,514 (GRCm39) |
|
probably benign |
Het |
| Trrap |
T |
C |
5: 144,793,760 (GRCm39) |
W3654R |
probably damaging |
Het |
| Tspan3 |
C |
T |
9: 56,054,724 (GRCm39) |
G108S |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,979 (GRCm39) |
|
probably null |
Het |
| Vps13b |
A |
G |
15: 35,770,829 (GRCm39) |
K2091E |
probably benign |
Het |
| Wdr62 |
A |
T |
7: 29,971,045 (GRCm39) |
V184D |
probably damaging |
Het |
| Zfp958 |
C |
A |
8: 4,678,247 (GRCm39) |
Q90K |
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 |
|
|
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'- TTGAGAGCTACACACATGGACC -3'
(R):5'- CTGTCGAAGTTCTGCCTTCACG -3'
Sequencing Primer
(F):5'- CATGGACCTCCTGAGAGATTC -3'
(R):5'- TTCACGGCACTGGATACTCG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation