Incidental Mutation 'R9413:Ppp1ca'
ID |
711913 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1ca
|
Ensembl Gene |
ENSMUSG00000040385 |
Gene Name |
protein phosphatase 1 catalytic subunit alpha |
Synonyms |
Ppp1c, dism2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.955)
|
Stock # |
R9413 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4242173-4245418 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4244897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 292
(S292P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025740]
[ENSMUST00000045864]
[ENSMUST00000046094]
|
AlphaFold |
P62137 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025740
|
SMART Domains |
Protein: ENSMUSP00000025740 Gene: ENSMUSG00000024824
Domain | Start | End | E-Value | Type |
Pfam:Rad9
|
13 |
265 |
6.6e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045864
|
SMART Domains |
Protein: ENSMUSP00000042660 Gene: ENSMUSG00000040247
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
28 |
N/A |
INTRINSIC |
TBC
|
87 |
301 |
7.1e-61 |
SMART |
low complexity region
|
393 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046094
AA Change: S292P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000039109 Gene: ENSMUSG00000040385 AA Change: S292P
Domain | Start | End | E-Value | Type |
PP2Ac
|
30 |
300 |
1.4e-164 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (35/36) |
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. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
Akr7a5 |
A |
T |
4: 139,038,059 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,531 (GRCm39) |
|
probably null |
Het |
Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,511,970 (GRCm39) |
D286G |
probably benign |
Het |
C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
Pglyrp3 |
G |
T |
3: 91,930,106 (GRCm39) |
A91S |
probably damaging |
Het |
Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
Snrnp27 |
T |
C |
6: 86,653,255 (GRCm39) |
D121G |
possibly damaging |
Het |
Spag6 |
A |
T |
2: 18,739,029 (GRCm39) |
M320L |
probably benign |
Het |
Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
possibly damaging |
Het |
|
Other mutations in Ppp1ca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00815:Ppp1ca
|
APN |
19 |
4,243,143 (GRCm39) |
missense |
probably benign |
0.25 |
IGL00834:Ppp1ca
|
APN |
19 |
4,244,519 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01017:Ppp1ca
|
APN |
19 |
4,243,110 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02150:Ppp1ca
|
APN |
19 |
4,244,698 (GRCm39) |
splice site |
probably benign |
|
IGL02295:Ppp1ca
|
APN |
19 |
4,244,481 (GRCm39) |
nonsense |
probably null |
|
R0022:Ppp1ca
|
UTSW |
19 |
4,244,580 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0022:Ppp1ca
|
UTSW |
19 |
4,244,580 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2680:Ppp1ca
|
UTSW |
19 |
4,244,594 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3978:Ppp1ca
|
UTSW |
19 |
4,242,253 (GRCm39) |
missense |
probably benign |
0.05 |
R4514:Ppp1ca
|
UTSW |
19 |
4,245,054 (GRCm39) |
missense |
probably benign |
|
R5131:Ppp1ca
|
UTSW |
19 |
4,244,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7606:Ppp1ca
|
UTSW |
19 |
4,243,088 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCATCTGCAGAGCACATC -3'
(R):5'- GCACATGGAGGCTATTTCTTG -3'
Sequencing Primer
(F):5'- CACATCAGGTGGGCTGGTG -3'
(R):5'- CACATGGAGGCTATTTCTTGGCTTTG -3'
|
Posted On |
2022-05-16 |