Incidental Mutation 'IGL00834:Ppp1ca'
| ID |
13122 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1ca
|
| Ensembl Gene |
ENSMUSG00000040385 |
| Gene Name |
protein phosphatase 1 catalytic subunit alpha |
| Synonyms |
Ppp1c, dism2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL00834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4242173-4245418 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4244519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 193
(T193A)
|
| 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 benign
Transcript: ENSMUST00000046094
AA Change: T193A
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385
AA Change: T193A
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
30 |
300 |
1.4e-164 |
SMART |
|
| Coding Region Coverage |
|
| 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. 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
G |
13: 4,562,664 (GRCm39) |
|
probably null |
Het |
| Alg5 |
T |
C |
3: 54,652,140 (GRCm39) |
|
probably benign |
Het |
| App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
| Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
| Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
| B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
| Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
| Cnot3 |
C |
T |
7: 3,653,854 (GRCm39) |
A2V |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,204 (GRCm39) |
D1084G |
unknown |
Het |
| Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
| Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
| Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
| Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
| Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
| Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
| Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
| Ppcdc |
A |
G |
9: 57,322,423 (GRCm39) |
F159L |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,090,037 (GRCm39) |
D117G |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,031,844 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
| Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9413:Ppp1ca
|
UTSW |
19 |
4,244,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation