Incidental Mutation 'R5684:Ppp2ca'
| ID |
501278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2ca
|
| Ensembl Gene |
ENSMUSG00000020349 |
| Gene Name |
protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform |
| Synonyms |
PP2A |
| MMRRC Submission |
043178-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51989651-52013576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52004154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 104
(K104E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020608]
|
| AlphaFold |
P63330 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020608
AA Change: K104E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020608
Gene: ENSMUSG00000020349
AA Change: K104E
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
23 |
293 |
3.46e-155 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181262
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A 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. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die before gastrulation and exhibit widespread degeneration. Mesoderm is not formed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
G |
5: 115,017,621 (GRCm39) |
D144G |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,685,939 (GRCm39) |
T172A |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,519 (GRCm39) |
F371L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,664,005 (GRCm39) |
F555L |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,849,009 (GRCm39) |
S396P |
probably damaging |
Het |
| Creb3l1 |
A |
G |
2: 91,821,076 (GRCm39) |
V336A |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,778,455 (GRCm39) |
N85S |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,270,172 (GRCm39) |
S278P |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,948,465 (GRCm39) |
C561S |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,496,299 (GRCm39) |
K637R |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,853 (GRCm39) |
S1130P |
probably benign |
Het |
| H2-M10.6 |
A |
T |
17: 37,124,746 (GRCm39) |
N221I |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,184,423 (GRCm39) |
K100I |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,660 (GRCm39) |
D144G |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,888 (GRCm39) |
Q545L |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Or13c7d |
T |
C |
4: 43,770,624 (GRCm39) |
N129S |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,279 (GRCm39) |
Y152* |
probably null |
Het |
| Or5p64 |
A |
T |
7: 107,855,246 (GRCm39) |
I33N |
possibly damaging |
Het |
| Pidd1 |
A |
T |
7: 141,021,024 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
G |
15: 76,089,796 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
C |
T |
17: 84,905,346 (GRCm39) |
A1080V |
probably damaging |
Het |
| Plppr3 |
A |
T |
10: 79,701,151 (GRCm39) |
S564T |
possibly damaging |
Het |
| Rad54l |
T |
A |
4: 115,957,760 (GRCm39) |
K407M |
probably damaging |
Het |
| Sfn |
T |
A |
4: 133,328,603 (GRCm39) |
K160* |
probably null |
Het |
| Slc22a15 |
A |
G |
3: 101,770,271 (GRCm39) |
S439P |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,715,681 (GRCm39) |
V273D |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,937,561 (GRCm39) |
F471S |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,629,235 (GRCm39) |
E896G |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,418,671 (GRCm39) |
R717Q |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,984 (GRCm39) |
E779G |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,800,623 (GRCm39) |
V66A |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,423,706 (GRCm39) |
S400P |
probably damaging |
Het |
| Trpc6 |
T |
C |
9: 8,653,129 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn2r103 |
T |
G |
17: 20,013,251 (GRCm39) |
I124S |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,676,409 (GRCm39) |
M1188K |
probably benign |
Het |
| Vtn |
G |
A |
11: 78,391,384 (GRCm39) |
G266S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,553 (GRCm39) |
S640P |
possibly damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,288,214 (GRCm39) |
M874K |
probably benign |
Het |
|
| Other mutations in Ppp2ca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Ppp2ca
|
APN |
11 |
52,012,776 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01767:Ppp2ca
|
APN |
11 |
52,008,882 (GRCm39) |
nonsense |
probably null |
|
|
IGL01982:Ppp2ca
|
APN |
11 |
51,989,891 (GRCm39) |
missense |
probably benign |
|
|
IGL03260:Ppp2ca
|
APN |
11 |
52,003,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0539:Ppp2ca
|
UTSW |
11 |
52,008,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0788:Ppp2ca
|
UTSW |
11 |
52,003,969 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0855:Ppp2ca
|
UTSW |
11 |
52,012,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1539:Ppp2ca
|
UTSW |
11 |
52,011,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1591:Ppp2ca
|
UTSW |
11 |
51,989,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1766:Ppp2ca
|
UTSW |
11 |
52,012,773 (GRCm39) |
missense |
probably benign |
|
|
R2267:Ppp2ca
|
UTSW |
11 |
52,008,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Ppp2ca
|
UTSW |
11 |
52,008,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Ppp2ca
|
UTSW |
11 |
52,010,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4199:Ppp2ca
|
UTSW |
11 |
51,989,928 (GRCm39) |
missense |
probably benign |
|
|
R4992:Ppp2ca
|
UTSW |
11 |
52,004,033 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5261:Ppp2ca
|
UTSW |
11 |
51,989,937 (GRCm39) |
missense |
probably benign |
|
|
R5729:Ppp2ca
|
UTSW |
11 |
52,008,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Ppp2ca
|
UTSW |
11 |
52,004,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Ppp2ca
|
UTSW |
11 |
52,010,080 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8073:Ppp2ca
|
UTSW |
11 |
52,010,124 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9014:Ppp2ca
|
UTSW |
11 |
52,009,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9800:Ppp2ca
|
UTSW |
11 |
52,008,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAATCCAACGTTCAAGAGGTTC -3'
(R):5'- AAAGCCCTGAGGTATCCCATTG -3'
Sequencing Primer
(F):5'- CAACGTTCAAGAGGTTCGATGTCC -3'
(R):5'- AGGTATCCCATTGCACTGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation