Incidental Mutation 'R1219:Ppp2r1b'
ID |
99933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp2r1b
|
Ensembl Gene |
ENSMUSG00000032058 |
Gene Name |
protein phosphatase 2, regulatory subunit A, beta |
Synonyms |
2410091N08Rik |
MMRRC Submission |
039288-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.567)
|
Stock # |
R1219 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
50767946-50810625 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 50778621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034560]
[ENSMUST00000114437]
[ENSMUST00000174628]
[ENSMUST00000175640]
[ENSMUST00000175645]
[ENSMUST00000175926]
[ENSMUST00000176798]
[ENSMUST00000176349]
[ENSMUST00000176055]
|
AlphaFold |
Q7TNP2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034560
|
SMART Domains |
Protein: ENSMUSP00000034560 Gene: ENSMUSG00000032058
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 benign
Transcript: ENSMUST00000114437
|
SMART Domains |
Protein: ENSMUSP00000110080 Gene: ENSMUSG00000032058
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 |
probably benign
Transcript: ENSMUST00000174628
|
SMART Domains |
Protein: ENSMUSP00000133404 Gene: ENSMUSG00000032058
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 benign
Transcript: ENSMUST00000175645
|
SMART Domains |
Protein: ENSMUSP00000135871 Gene: ENSMUSG00000032058
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 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176798
|
SMART Domains |
Protein: ENSMUSP00000135525 Gene: ENSMUSG00000032058
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 benign
Transcript: ENSMUST00000176349
|
SMART Domains |
Protein: ENSMUSP00000135758 Gene: ENSMUSG00000032058
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: ENSMUST00000176055
|
SMART Domains |
Protein: ENSMUSP00000135253 Gene: ENSMUSG00000032058
Domain | Start | End | E-Value | Type |
PDB:3DW8|D
|
1 |
51 |
1e-26 |
PDB |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
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 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atad2 |
A |
G |
15: 57,998,307 (GRCm39) |
S22P |
probably benign |
Het |
Atrn |
A |
T |
2: 130,862,927 (GRCm39) |
T1336S |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,000,619 (GRCm39) |
L1266* |
probably null |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccdc113 |
T |
C |
8: 96,264,895 (GRCm39) |
|
probably benign |
Het |
Ccdc158 |
A |
G |
5: 92,802,040 (GRCm39) |
|
probably benign |
Het |
Ciao3 |
T |
C |
17: 25,994,075 (GRCm39) |
I41T |
probably damaging |
Het |
Dcun1d3 |
G |
T |
7: 119,458,631 (GRCm39) |
Q135K |
probably damaging |
Het |
Dnah7b |
A |
C |
1: 46,379,280 (GRCm39) |
E3671D |
probably benign |
Het |
Eea1 |
A |
G |
10: 95,846,623 (GRCm39) |
|
probably benign |
Het |
Entrep3 |
T |
C |
3: 89,091,155 (GRCm39) |
V42A |
probably damaging |
Het |
Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
Gm5111 |
A |
G |
6: 48,567,328 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
T |
5: 110,332,215 (GRCm39) |
E50* |
probably null |
Het |
Junb |
T |
C |
8: 85,704,268 (GRCm39) |
E264G |
probably damaging |
Het |
Kash5 |
A |
G |
7: 44,838,832 (GRCm39) |
|
probably benign |
Het |
Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
Krt18 |
T |
C |
15: 101,939,723 (GRCm39) |
|
probably benign |
Het |
Man1a |
G |
A |
10: 53,795,249 (GRCm39) |
|
probably benign |
Het |
Mapkbp1 |
G |
T |
2: 119,849,831 (GRCm39) |
G768* |
probably null |
Het |
Mybpc2 |
A |
C |
7: 44,165,458 (GRCm39) |
|
probably null |
Het |
Nectin3 |
A |
T |
16: 46,275,042 (GRCm39) |
C238* |
probably null |
Het |
Ntf3 |
G |
T |
6: 126,079,174 (GRCm39) |
R98S |
possibly damaging |
Het |
Nup153 |
T |
G |
13: 46,840,695 (GRCm39) |
Q971P |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,146,822 (GRCm39) |
T221A |
possibly damaging |
Het |
Prkd1 |
A |
T |
12: 50,435,125 (GRCm39) |
V534E |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,028,799 (GRCm39) |
E26G |
probably damaging |
Het |
Rnf213 |
C |
A |
11: 119,327,003 (GRCm39) |
N1663K |
probably damaging |
Het |
Slc1a1 |
G |
A |
19: 28,882,146 (GRCm39) |
|
probably benign |
Het |
Slc36a4 |
T |
C |
9: 15,634,832 (GRCm39) |
Y125H |
probably damaging |
Het |
Slc6a11 |
G |
A |
6: 114,202,772 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,862,578 (GRCm39) |
|
probably null |
Het |
Sumf2 |
G |
T |
5: 129,883,613 (GRCm39) |
A164S |
probably benign |
Het |
Sv2b |
T |
C |
7: 74,786,160 (GRCm39) |
D420G |
probably benign |
Het |
Ube2v1 |
T |
C |
2: 167,459,831 (GRCm39) |
D56G |
probably benign |
Het |
Ung |
A |
G |
5: 114,270,228 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
C |
13: 89,828,023 (GRCm39) |
Y2181C |
probably damaging |
Het |
Vmn1r238 |
G |
A |
18: 3,123,135 (GRCm39) |
T93I |
possibly damaging |
Het |
Vmn2r14 |
A |
C |
5: 109,372,440 (GRCm39) |
S17A |
probably benign |
Het |
Vmn2r25 |
A |
G |
6: 123,816,282 (GRCm39) |
V433A |
probably benign |
Het |
Zfp36l2 |
A |
G |
17: 84,495,070 (GRCm39) |
|
probably null |
Het |
Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
Zfp839 |
A |
G |
12: 110,834,707 (GRCm39) |
D654G |
possibly 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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTCCACGCAGCAGCATTTC -3'
(R):5'- CGTCTGTAGTAACAGCTATGCGCC -3'
Sequencing Primer
(F):5'- ATGGCACCAGCATGGCAG -3'
(R):5'- AGCTCTACAGTGCAACGC -3'
|
Posted On |
2014-01-15 |