Incidental Mutation 'R0047:Ppp2r1b'
ID |
15991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp2r1b
|
Ensembl Gene |
ENSMUSG00000032058 |
Gene Name |
protein phosphatase 2, regulatory subunit A, beta |
Synonyms |
2410091N08Rik |
MMRRC Submission |
038341-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.567)
|
Stock # |
R0047 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50767946-50810625 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 50772873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 117
(R117*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000114437]
[ENSMUST00000174628]
[ENSMUST00000175640]
[ENSMUST00000175645]
[ENSMUST00000176798]
[ENSMUST00000176349]
[ENSMUST00000175926]
|
AlphaFold |
Q7TNP2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034560
AA Change: R117*
|
SMART Domains |
Protein: ENSMUSP00000034560 Gene: ENSMUSG00000032058 AA Change: R117*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:HEAT
|
178 |
208 |
2.2e-6 |
PFAM |
Pfam:HEAT_EZ
|
182 |
243 |
9.9e-6 |
PFAM |
Pfam:HEAT
|
295 |
325 |
5.9e-6 |
PFAM |
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
Pfam:HEAT_2
|
495 |
596 |
5.1e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114437
AA Change: R117*
|
SMART Domains |
Protein: ENSMUSP00000110080 Gene: ENSMUSG00000032058 AA Change: R117*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:HEAT
|
178 |
208 |
1.6e-6 |
PFAM |
Pfam:HEAT_EZ
|
180 |
243 |
7.3e-6 |
PFAM |
Pfam:HEAT
|
217 |
247 |
4.3e-5 |
PFAM |
Pfam:HEAT
|
295 |
325 |
4.2e-6 |
PFAM |
Pfam:HEAT_2
|
378 |
479 |
9e-11 |
PFAM |
Pfam:HEAT_2
|
494 |
597 |
4.2e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174555
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174628
AA Change: R117*
|
SMART Domains |
Protein: ENSMUSP00000133404 Gene: ENSMUSG00000032058 AA Change: R117*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:HEAT
|
178 |
208 |
4.6e-6 |
PFAM |
Pfam:HEAT
|
217 |
247 |
4.5e-5 |
PFAM |
Pfam:HEAT
|
295 |
325 |
4.3e-6 |
PFAM |
Pfam:HEAT_2
|
378 |
479 |
1.7e-11 |
PFAM |
low complexity region
|
643 |
655 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175640
|
SMART Domains |
Protein: ENSMUSP00000134740 Gene: ENSMUSG00000032058
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:HEAT
|
129 |
159 |
5.7e-5 |
PFAM |
Pfam:HEAT
|
168 |
198 |
4e-6 |
PFAM |
Pfam:HEAT_2
|
251 |
352 |
6.3e-11 |
PFAM |
Pfam:HEAT_2
|
365 |
470 |
3e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175645
AA Change: R117*
|
SMART Domains |
Protein: ENSMUSP00000135871 Gene: ENSMUSG00000032058 AA Change: R117*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
173 |
243 |
8e-6 |
PFAM |
Pfam:HEAT
|
178 |
208 |
1.8e-6 |
PFAM |
Pfam:HEAT
|
217 |
247 |
4.9e-5 |
PFAM |
Pfam:HEAT
|
295 |
325 |
4.8e-6 |
PFAM |
Pfam:HEAT_2
|
449 |
552 |
3.9e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176798
AA Change: R117*
|
SMART Domains |
Protein: ENSMUSP00000135525 Gene: ENSMUSG00000032058 AA Change: R117*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:HEAT
|
178 |
208 |
2.3e-6 |
PFAM |
Pfam:HEAT_EZ
|
182 |
243 |
1e-5 |
PFAM |
Pfam:HEAT
|
295 |
325 |
6e-6 |
PFAM |
Pfam:HEAT_2
|
378 |
479 |
1.1e-10 |
PFAM |
Pfam:HEAT_2
|
495 |
596 |
5.2e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176349
AA Change: R53*
|
SMART Domains |
Protein: ENSMUSP00000135758 Gene: ENSMUSG00000032058 AA Change: R53*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:HEAT
|
114 |
144 |
2e-6 |
PFAM |
Pfam:HEAT_EZ
|
116 |
179 |
8.7e-6 |
PFAM |
Pfam:HEAT
|
153 |
183 |
5.5e-5 |
PFAM |
Pfam:HEAT
|
231 |
261 |
5.3e-6 |
PFAM |
Pfam:HEAT_2
|
314 |
415 |
9.3e-11 |
PFAM |
Pfam:HEAT_2
|
430 |
532 |
4.4e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175926
|
SMART Domains |
Protein: ENSMUSP00000134886 Gene: ENSMUSG00000032058
Domain | Start | End | E-Value | Type |
SCOP:d1b3ua_
|
14 |
104 |
4e-15 |
SMART |
PDB:3DW8|D
|
22 |
104 |
4e-45 |
PDB |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.3%
- 10x: 78.8%
- 20x: 65.9%
|
Validation Efficiency |
95% (110/116) |
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 a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
|
Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,772,025 (GRCm39) |
T405A |
probably damaging |
Het |
Acer1 |
A |
T |
17: 57,262,624 (GRCm39) |
D175E |
possibly damaging |
Het |
Adamts9 |
G |
A |
6: 92,882,287 (GRCm39) |
|
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,857 (GRCm39) |
S427P |
probably benign |
Het |
Arid4a |
T |
G |
12: 71,122,193 (GRCm39) |
L858W |
probably damaging |
Het |
Bbox1 |
A |
G |
2: 110,098,647 (GRCm39) |
F310S |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 36,962,341 (GRCm39) |
L481M |
possibly damaging |
Het |
Bmper |
T |
A |
9: 23,317,982 (GRCm39) |
C534S |
probably damaging |
Het |
Cacna1d |
T |
G |
14: 30,068,747 (GRCm39) |
|
probably benign |
Het |
Capn12 |
G |
A |
7: 28,589,812 (GRCm39) |
|
probably null |
Het |
Chchd1 |
T |
C |
14: 20,754,231 (GRCm39) |
S48P |
possibly damaging |
Het |
Cnot7 |
A |
G |
8: 40,948,962 (GRCm39) |
|
probably benign |
Het |
Cux1 |
T |
C |
5: 136,392,107 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
T |
A |
7: 26,466,251 (GRCm39) |
D351E |
probably benign |
Het |
Dctn1 |
G |
T |
6: 83,159,614 (GRCm39) |
G31* |
probably null |
Het |
Duox1 |
T |
A |
2: 122,177,122 (GRCm39) |
|
probably benign |
Het |
Egflam |
T |
G |
15: 7,282,911 (GRCm39) |
E382A |
possibly damaging |
Het |
Ext1 |
T |
C |
15: 53,208,542 (GRCm39) |
N73S |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,892,214 (GRCm39) |
M866K |
probably damaging |
Het |
Gm3333 |
A |
G |
13: 62,422,285 (GRCm39) |
|
noncoding transcript |
Het |
Golm1 |
T |
A |
13: 59,792,914 (GRCm39) |
H197L |
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,746,579 (GRCm39) |
K132E |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,710,339 (GRCm39) |
|
probably benign |
Het |
Hrc |
T |
A |
7: 44,986,113 (GRCm39) |
S421R |
probably benign |
Het |
Ighg2c |
T |
A |
12: 113,251,788 (GRCm39) |
|
probably benign |
Het |
Ihh |
A |
G |
1: 74,985,750 (GRCm39) |
I245T |
probably benign |
Het |
Ilf3 |
T |
A |
9: 21,300,010 (GRCm39) |
M65K |
possibly damaging |
Het |
Kif9 |
A |
G |
9: 110,314,106 (GRCm39) |
I33V |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,102,181 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,328,600 (GRCm39) |
I188T |
possibly damaging |
Het |
Lpp |
T |
A |
16: 24,480,550 (GRCm39) |
|
probably benign |
Het |
Mark2 |
A |
C |
19: 7,260,942 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
T |
C |
9: 7,451,910 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,928,727 (GRCm39) |
|
probably benign |
Het |
Mtr |
A |
T |
13: 12,237,112 (GRCm39) |
S569T |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,258,063 (GRCm39) |
S1752T |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,063,489 (GRCm39) |
L565H |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,658,660 (GRCm39) |
K296E |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,740,780 (GRCm39) |
|
probably null |
Het |
Or51ab3 |
A |
T |
7: 103,201,529 (GRCm39) |
Y179F |
probably damaging |
Het |
Or5ac19 |
C |
T |
16: 59,089,574 (GRCm39) |
G152D |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,479,953 (GRCm39) |
E82G |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,901 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
A |
T |
2: 24,901,618 (GRCm39) |
E548V |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,073,895 (GRCm39) |
E273* |
probably null |
Het |
Psg-ps1 |
A |
G |
7: 17,411,806 (GRCm39) |
|
noncoding transcript |
Het |
Rabgap1l |
G |
A |
1: 160,059,359 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,437,204 (GRCm39) |
M49K |
possibly damaging |
Het |
Rtel1 |
T |
G |
2: 180,965,198 (GRCm39) |
I146M |
probably damaging |
Het |
Sdr9c7 |
A |
T |
10: 127,739,541 (GRCm39) |
M219L |
probably benign |
Het |
Serpinb1a |
A |
T |
13: 33,034,259 (GRCm39) |
L44Q |
probably damaging |
Het |
Slc13a4 |
A |
G |
6: 35,264,297 (GRCm39) |
I190T |
possibly damaging |
Het |
Slc46a2 |
A |
G |
4: 59,914,392 (GRCm39) |
L177P |
probably damaging |
Het |
Slc47a2 |
C |
T |
11: 61,227,068 (GRCm39) |
V167M |
possibly damaging |
Het |
Snrnp200 |
C |
T |
2: 127,076,874 (GRCm39) |
|
probably benign |
Het |
Snx13 |
C |
A |
12: 35,151,123 (GRCm39) |
|
probably benign |
Het |
Snx25 |
C |
T |
8: 46,494,402 (GRCm39) |
A828T |
probably damaging |
Het |
Spic |
A |
G |
10: 88,511,803 (GRCm39) |
L151P |
probably damaging |
Het |
Sptb |
G |
T |
12: 76,669,724 (GRCm39) |
Q535K |
probably damaging |
Het |
Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
Stk32a |
T |
C |
18: 43,446,443 (GRCm39) |
|
probably benign |
Het |
Tcaf2 |
A |
G |
6: 42,606,547 (GRCm39) |
I469T |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,147,954 (GRCm39) |
|
probably benign |
Het |
Top2a |
T |
A |
11: 98,888,682 (GRCm39) |
I1260L |
probably benign |
Het |
Treml1 |
C |
A |
17: 48,672,008 (GRCm39) |
S91* |
probably null |
Het |
Trmt11 |
T |
C |
10: 30,411,239 (GRCm39) |
N418S |
probably benign |
Het |
Ttf1 |
A |
G |
2: 28,974,667 (GRCm39) |
Y801C |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,414,403 (GRCm39) |
A2782V |
probably benign |
Het |
Vps4a |
T |
C |
8: 107,763,333 (GRCm39) |
L29P |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,091,899 (GRCm39) |
I480T |
probably damaging |
Het |
Ywhag |
A |
T |
5: 135,940,153 (GRCm39) |
V147E |
probably damaging |
Het |
|
Other mutations in Ppp2r1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01622:Ppp2r1b
|
APN |
9 |
50,789,422 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01623:Ppp2r1b
|
APN |
9 |
50,789,422 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02120:Ppp2r1b
|
APN |
9 |
50,773,069 (GRCm39) |
splice site |
probably benign |
|
IGL02158:Ppp2r1b
|
APN |
9 |
50,772,909 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02706:Ppp2r1b
|
APN |
9 |
50,790,134 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02801:Ppp2r1b
|
APN |
9 |
50,790,127 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02943:Ppp2r1b
|
APN |
9 |
50,794,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Ppp2r1b
|
UTSW |
9 |
50,772,873 (GRCm39) |
nonsense |
probably null |
|
R0211:Ppp2r1b
|
UTSW |
9 |
50,772,925 (GRCm39) |
missense |
probably benign |
0.00 |
R0603:Ppp2r1b
|
UTSW |
9 |
50,772,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R1219:Ppp2r1b
|
UTSW |
9 |
50,778,621 (GRCm39) |
splice site |
probably benign |
|
R1513:Ppp2r1b
|
UTSW |
9 |
50,781,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R1545:Ppp2r1b
|
UTSW |
9 |
50,773,725 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1997:Ppp2r1b
|
UTSW |
9 |
50,778,671 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1998:Ppp2r1b
|
UTSW |
9 |
50,794,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R2153:Ppp2r1b
|
UTSW |
9 |
50,777,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R3829:Ppp2r1b
|
UTSW |
9 |
50,773,794 (GRCm39) |
missense |
probably benign |
0.02 |
R4672:Ppp2r1b
|
UTSW |
9 |
50,779,019 (GRCm39) |
missense |
probably damaging |
0.99 |
R5299:Ppp2r1b
|
UTSW |
9 |
50,768,340 (GRCm39) |
missense |
probably benign |
0.04 |
R5376:Ppp2r1b
|
UTSW |
9 |
50,778,228 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5504:Ppp2r1b
|
UTSW |
9 |
50,770,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R5700:Ppp2r1b
|
UTSW |
9 |
50,789,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R5771:Ppp2r1b
|
UTSW |
9 |
50,778,132 (GRCm39) |
missense |
probably damaging |
0.98 |
R7547:Ppp2r1b
|
UTSW |
9 |
50,773,762 (GRCm39) |
missense |
probably benign |
0.06 |
R7626:Ppp2r1b
|
UTSW |
9 |
50,789,476 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8498:Ppp2r1b
|
UTSW |
9 |
50,778,194 (GRCm39) |
nonsense |
probably null |
|
R9096:Ppp2r1b
|
UTSW |
9 |
50,777,856 (GRCm39) |
missense |
probably benign |
0.03 |
R9201:Ppp2r1b
|
UTSW |
9 |
50,789,447 (GRCm39) |
missense |
probably benign |
0.02 |
Z1088:Ppp2r1b
|
UTSW |
9 |
50,778,211 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ppp2r1b
|
UTSW |
9 |
50,784,945 (GRCm39) |
frame shift |
probably null |
|
|
Protein Function and Prediction |
Ppp2r1b encodes PP2AA-beta, the beta isoform of the structural regulatory A subunit (PP2AA) of the trimeric serine/threonine protein phosphatase-2A (PP2A), a phosphatase that downregulates the mitogen-activated protein kinase (MAPK) cascade, relays signals for cell proliferation, and may be linked to carcinogenesis. PP2AA-beta interacts with the catalytic PP2AC subunit and variable PP2AB regulatory subunits to facilitate phosphatase activity (1;2). In immortalized human cells, the suppression of PP2AA-beta exrpression resulted in a conversion of the cells to a tumorigenic state through an interaction with, and a modulation of activity of, the small GTPase, RalA; this study proposed that PP2AA-beta is a tumor suppressor (3).
|
References |
2. Wang, S. S., Esplin, E. D., Li, J. L., Huang, L., Gazdar, A., Minna, J., and Evans, G. A. (1998) Alterations of the PPP2R1B Gene in Human Lung and Colon Cancer. Science. 282, 284-287.
3. Sablina, A. A., Chen, W., Arroyo, J. D., Corral, L., Hector, M., Bulmer, S. E., DeCaprio, J. A., and Hahn, W. C. (2007) The Tumor Suppressor PP2A Abeta Regulates the RalA GTPase. Cell. 129, 969-982.
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Posted On |
2013-01-08 |
Science Writer |
Anne Murray |