Incidental Mutation 'R6738:Ppp2r1a'
| ID |
530338 |
| 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 |
044856-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
21165716-21186167 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 21174979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000007708
|
| SMART Domains |
Protein: ENSMUSP00000007708
Gene: ENSMUSG00000007564
| 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: 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 |
0.9504 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,684,586 (GRCm39) |
Y454H |
probably damaging |
Het |
| Ambp |
A |
T |
4: 63,067,711 (GRCm39) |
D166E |
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,345 (GRCm39) |
V359A |
possibly damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,618,660 (GRCm39) |
S1710T |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,040,635 (GRCm39) |
S1713P |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,863,431 (GRCm39) |
K758M |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,199,515 (GRCm39) |
I304T |
possibly damaging |
Het |
| C1ra |
A |
G |
6: 124,494,718 (GRCm39) |
Y327C |
probably damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,822,433 (GRCm39) |
S794L |
probably benign |
Het |
| Cd24a |
A |
G |
10: 43,458,672 (GRCm39) |
N48D |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,906,116 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,725,363 (GRCm39) |
T252I |
possibly damaging |
Het |
| Dlx2 |
A |
G |
2: 71,376,406 (GRCm39) |
Y111H |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,186 (GRCm39) |
S1324P |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,202,346 (GRCm39) |
F522I |
probably damaging |
Het |
| Fam193b |
C |
T |
13: 55,698,174 (GRCm39) |
A45T |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,904,536 (GRCm38) |
T980A |
probably benign |
Het |
| Gabrb2 |
G |
T |
11: 42,484,758 (GRCm39) |
A272S |
possibly damaging |
Het |
| H2al2a |
G |
T |
2: 18,001,429 (GRCm39) |
Q86K |
possibly damaging |
Het |
| Ikbkb |
T |
G |
8: 23,165,052 (GRCm39) |
I243L |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,816 (GRCm39) |
E527G |
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,984,535 (GRCm39) |
V320D |
probably damaging |
Het |
| Krt76 |
C |
T |
15: 101,795,913 (GRCm39) |
R419H |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,288,832 (GRCm39) |
Y3678F |
probably damaging |
Het |
| Mab21l4 |
G |
A |
1: 93,087,707 (GRCm39) |
L49F |
probably benign |
Het |
| Mnat1 |
T |
G |
12: 73,319,246 (GRCm39) |
S290A |
probably benign |
Het |
| Mptx2 |
T |
C |
1: 173,102,422 (GRCm39) |
E89G |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,407,393 (GRCm39) |
|
probably null |
Het |
| Naaladl2 |
A |
G |
3: 24,225,806 (GRCm39) |
V541A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,465,973 (GRCm39) |
T851A |
possibly damaging |
Het |
| Ncoa4 |
A |
G |
14: 31,892,750 (GRCm39) |
Y11C |
probably benign |
Het |
| Ntn5 |
T |
A |
7: 45,343,780 (GRCm39) |
|
probably null |
Het |
| Or10d4c |
A |
G |
9: 39,557,957 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
C |
T |
2: 36,624,444 (GRCm39) |
T37I |
probably benign |
Het |
| Otop2 |
A |
G |
11: 115,220,318 (GRCm39) |
Y386C |
probably damaging |
Het |
| Prkd2 |
C |
A |
7: 16,599,830 (GRCm39) |
N764K |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,809,512 (GRCm39) |
L421S |
probably damaging |
Het |
| Ric3 |
G |
A |
7: 108,647,269 (GRCm39) |
R184* |
probably null |
Het |
| Sfswap |
A |
G |
5: 129,618,505 (GRCm39) |
K480E |
probably damaging |
Het |
| Siah2 |
A |
G |
3: 58,598,974 (GRCm39) |
V88A |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,298 (GRCm39) |
F367L |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,920,356 (GRCm39) |
D183G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,123,180 (GRCm39) |
N712S |
possibly damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,283 (GRCm39) |
V72A |
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,367,311 (GRCm39) |
Y184H |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,076,504 (GRCm39) |
Y138H |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,293,946 (GRCm39) |
N227K |
possibly damaging |
Het |
| Trip10 |
C |
T |
17: 57,563,899 (GRCm39) |
P342S |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,735,426 (GRCm39) |
E1156V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,472 (GRCm39) |
|
probably benign |
Het |
| Vmn2r109 |
G |
A |
17: 20,774,785 (GRCm39) |
S190L |
possibly damaging |
Het |
| Wdr54 |
A |
G |
6: 83,132,109 (GRCm39) |
S99P |
probably damaging |
Het |
| Ythdf2 |
A |
C |
4: 131,932,272 (GRCm39) |
I296R |
probably benign |
Het |
| Zfp445 |
A |
G |
9: 122,691,123 (GRCm39) |
V24A |
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 |
|
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'- ATAGGGGTGCTGACATCGAG -3'
(R):5'- CCTACAGGTAGAGTGCTACTGAG -3'
Sequencing Primer
(F):5'- TGCTGACATCGAGGAAGCTTG -3'
(R):5'- CAGGTAGAGTGCTACTGAGTCCTAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation