Incidental Mutation 'R9772:Ppp2r1a'
ID |
733500 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9772 (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 T
at 21181855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 458
(I458F)
|
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 damaging
Transcript: ENSMUST00000007708
AA Change: I458F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000007708 Gene: ENSMUSG00000007564 AA Change: I458F
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl2 |
A |
T |
2: 26,985,666 (GRCm39) |
I517F |
probably benign |
Het |
Ankdd1a |
A |
G |
9: 65,408,749 (GRCm39) |
C506R |
probably damaging |
Het |
Arid3c |
T |
C |
4: 41,724,723 (GRCm39) |
N371D |
probably damaging |
Het |
Ccdc117 |
C |
T |
11: 5,492,042 (GRCm39) |
R6Q |
possibly damaging |
Het |
Ccdc78 |
C |
T |
17: 26,005,665 (GRCm39) |
R26* |
probably null |
Het |
Clca4a |
C |
A |
3: 144,676,422 (GRCm39) |
W86L |
probably damaging |
Het |
Clrn2 |
C |
T |
5: 45,611,369 (GRCm39) |
Q73* |
probably null |
Het |
Cpne6 |
A |
G |
14: 55,754,117 (GRCm39) |
D478G |
probably benign |
Het |
Cyp2c40 |
T |
A |
19: 39,792,348 (GRCm39) |
I199L |
probably benign |
Het |
Dna2 |
T |
C |
10: 62,786,522 (GRCm39) |
V90A |
probably benign |
Het |
Dydc1 |
A |
G |
14: 40,804,248 (GRCm39) |
E90G |
probably damaging |
Het |
Egf |
A |
T |
3: 129,499,756 (GRCm39) |
S795T |
probably benign |
Het |
Gm13090 |
G |
T |
4: 151,175,565 (GRCm39) |
A102S |
unknown |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
Ltf |
T |
C |
9: 110,869,425 (GRCm39) |
S87P |
unknown |
Het |
Mesp2 |
A |
G |
7: 79,461,348 (GRCm39) |
I224M |
possibly damaging |
Het |
Mettl25 |
T |
C |
10: 105,633,127 (GRCm39) |
R439G |
probably benign |
Het |
Mettl27 |
C |
T |
5: 134,962,390 (GRCm39) |
R63W |
possibly damaging |
Het |
Nap1l1 |
C |
T |
10: 111,325,911 (GRCm39) |
R77* |
probably null |
Het |
Niban2 |
T |
C |
2: 32,795,868 (GRCm39) |
I48T |
probably damaging |
Het |
Notch4 |
G |
T |
17: 34,792,883 (GRCm39) |
|
probably null |
Het |
Npepps |
A |
G |
11: 97,113,983 (GRCm39) |
I631T |
probably benign |
Het |
Or4c105 |
G |
A |
2: 88,647,958 (GRCm39) |
V148I |
probably benign |
Het |
Or8b51 |
A |
T |
9: 38,568,964 (GRCm39) |
C241* |
probably null |
Het |
Pacsin3 |
T |
A |
2: 91,093,138 (GRCm39) |
L210Q |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,609,785 (GRCm39) |
E4347G |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,657,048 (GRCm39) |
I1911T |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,329,417 (GRCm39) |
I866T |
possibly damaging |
Het |
Sfr1 |
G |
T |
19: 47,722,019 (GRCm39) |
C145F |
probably benign |
Het |
Slc35f4 |
A |
T |
14: 49,551,175 (GRCm39) |
Y230N |
probably damaging |
Het |
Slx4 |
A |
G |
16: 3,818,849 (GRCm39) |
V89A |
|
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 56,990,765 (GRCm39) |
I671T |
probably damaging |
Het |
Trub1 |
G |
A |
19: 57,472,075 (GRCm39) |
V184I |
probably benign |
Het |
Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
Vit |
A |
C |
17: 78,932,398 (GRCm39) |
T502P |
probably damaging |
Het |
Vmn2r15 |
C |
T |
5: 109,434,923 (GRCm39) |
G594R |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGCAGAGCCTCAACCATC -3'
(R):5'- CCCTGGGATCTATAGGCAGTTG -3'
Sequencing Primer
(F):5'- CAAATGGTGCCTGCCTCTGTAG -3'
(R):5'- CTATAGGCAGTTGGGGTGCTCAC -3'
|
Posted On |
2022-11-14 |