Incidental Mutation 'R1137:Ppp1cb'
| ID |
95142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1cb
|
| Ensembl Gene |
ENSMUSG00000014956 |
| Gene Name |
protein phosphatase 1 catalytic subunit beta |
| Synonyms |
|
| MMRRC Submission |
039210-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1137 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
32616192-32651057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32645015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 55
(M55T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015100]
[ENSMUST00000201360]
[ENSMUST00000201880]
[ENSMUST00000202078]
|
| AlphaFold |
P62141 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015100
AA Change: M282T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000015100
Gene: ENSMUSG00000014956
AA Change: M282T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
29 |
299 |
1.14e-164 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201207
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201360
AA Change: M282T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144047
Gene: ENSMUSG00000014956
AA Change: M282T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
29 |
299 |
1.14e-164 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201880
AA Change: M55T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144350
Gene: ENSMUSG00000014956
AA Change: M55T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
1 |
72 |
1.1e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202078
|
| SMART Domains |
Protein: ENSMUSP00000144167
Gene: ENSMUSG00000014956
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PP2Ac
|
1 |
56 |
7e-25 |
BLAST |
|
SCOP:d1auia_
|
18 |
53 |
4e-11 |
SMART |
|
PDB:1S70|A
|
18 |
56 |
5e-21 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,256 (GRCm39) |
S54T |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,789,424 (GRCm39) |
T222A |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,760 (GRCm39) |
K1561E |
probably benign |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,676,446 (GRCm39) |
V78A |
probably damaging |
Het |
| Clec4n |
G |
A |
6: 123,223,526 (GRCm39) |
M170I |
possibly damaging |
Het |
| Cp |
G |
T |
3: 20,033,116 (GRCm39) |
A648S |
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 31,074,910 (GRCm39) |
D4543G |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,370 (GRCm39) |
V477A |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,885,205 (GRCm39) |
S245P |
probably benign |
Het |
| Fkbp9 |
G |
T |
6: 56,837,682 (GRCm39) |
G312V |
probably damaging |
Het |
| Htr4 |
A |
G |
18: 62,570,624 (GRCm39) |
I226M |
probably damaging |
Het |
| Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,914,486 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,515,981 (GRCm39) |
V2621F |
possibly damaging |
Het |
| Lif |
A |
G |
11: 4,219,237 (GRCm39) |
D172G |
probably damaging |
Het |
| Llgl1 |
C |
A |
11: 60,595,559 (GRCm39) |
H82N |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,162,273 (GRCm39) |
I162M |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,694,511 (GRCm39) |
I1078N |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,137,745 (GRCm39) |
T196S |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,464,634 (GRCm39) |
L657P |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,159,697 (GRCm39) |
M1078T |
possibly damaging |
Het |
| Rarg |
T |
C |
15: 102,149,595 (GRCm39) |
T125A |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Slc5a7 |
G |
A |
17: 54,600,039 (GRCm39) |
R125C |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tigit |
G |
T |
16: 43,469,485 (GRCm39) |
T202N |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,860,606 (GRCm39) |
A617V |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,938,400 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,768,659 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,852,422 (GRCm39) |
D846V |
probably damaging |
Het |
| Vmn1r16 |
T |
G |
6: 57,300,221 (GRCm39) |
N134H |
probably damaging |
Het |
|
| Other mutations in Ppp1cb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00678:Ppp1cb
|
APN |
5 |
32,642,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL00908:Ppp1cb
|
APN |
5 |
32,635,412 (GRCm39) |
nonsense |
probably null |
|
|
IGL01881:Ppp1cb
|
APN |
5 |
32,635,487 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02210:Ppp1cb
|
APN |
5 |
32,640,818 (GRCm39) |
splice site |
probably benign |
|
|
R0081:Ppp1cb
|
UTSW |
5 |
32,644,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0124:Ppp1cb
|
UTSW |
5 |
32,640,822 (GRCm39) |
splice site |
probably benign |
|
|
R2198:Ppp1cb
|
UTSW |
5 |
32,640,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Ppp1cb
|
UTSW |
5 |
32,643,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Ppp1cb
|
UTSW |
5 |
32,640,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6299:Ppp1cb
|
UTSW |
5 |
32,640,798 (GRCm39) |
nonsense |
probably null |
|
|
R6781:Ppp1cb
|
UTSW |
5 |
32,638,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Ppp1cb
|
UTSW |
5 |
32,648,376 (GRCm39) |
missense |
probably benign |
|
|
R9061:Ppp1cb
|
UTSW |
5 |
32,635,492 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGTGTCCACTGTTCAAAGTGTTCA -3'
(R):5'- AGTGCAAATTCAAGGTCAGCCCA -3'
Sequencing Primer
(F):5'- ggtcagatgaacgtgccag -3'
(R):5'- ggtcagcccaggctagag -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation