Incidental Mutation 'R0013:Ppm1e'
| ID |
8022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1e
|
| Ensembl Gene |
ENSMUSG00000046442 |
| Gene Name |
protein phosphatase 1E (PP2C domain containing) |
| Synonyms |
PP2CH, POPX1, B930008A12Rik |
| MMRRC Submission |
038308-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R0013 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87117732-87249849 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 87139884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055438]
|
| AlphaFold |
Q80TL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055438
|
| SMART Domains |
Protein: ENSMUSP00000061278
Gene: ENSMUSG00000046442
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
128 |
N/A |
INTRINSIC |
|
PP2Cc
|
216 |
483 |
2.26e-71 |
SMART |
|
PP2C_SIG
|
243 |
485 |
1.01e-2 |
SMART |
|
low complexity region
|
506 |
515 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155154
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 79.5%
- 3x: 71.1%
- 10x: 47.6%
- 20x: 27.2%
|
| Validation Efficiency |
94% (77/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5'-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
A |
T |
18: 80,172,960 (GRCm39) |
V483D |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,570,257 (GRCm39) |
C911* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| C2cd3 |
T |
A |
7: 100,065,269 (GRCm39) |
L685H |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,461 (GRCm39) |
F448L |
probably damaging |
Het |
| Dnmbp |
G |
A |
19: 43,890,670 (GRCm39) |
P366S |
probably benign |
Het |
| Elmod1 |
G |
A |
9: 53,820,185 (GRCm39) |
|
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,153,664 (GRCm39) |
N320S |
probably damaging |
Het |
| Glp2r |
C |
A |
11: 67,600,538 (GRCm39) |
G437V |
possibly damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,408 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Ints11 |
T |
C |
4: 155,971,625 (GRCm39) |
F315S |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,683,895 (GRCm39) |
N1059Y |
possibly damaging |
Het |
| Kdm5d |
A |
T |
Y: 941,715 (GRCm39) |
K1305N |
probably benign |
Homo |
| Mboat7 |
A |
G |
7: 3,686,821 (GRCm39) |
S340P |
probably damaging |
Het |
| Mex3c |
G |
A |
18: 73,723,622 (GRCm39) |
A572T |
probably benign |
Het |
| Myo9a |
A |
T |
9: 59,767,489 (GRCm39) |
|
probably benign |
Het |
| Myog |
T |
A |
1: 134,217,973 (GRCm39) |
H60Q |
probably damaging |
Het |
| Pgm5 |
A |
C |
19: 24,710,904 (GRCm39) |
|
probably null |
Het |
| Plb1 |
T |
A |
5: 32,506,959 (GRCm39) |
|
probably benign |
Het |
| Prss46 |
G |
T |
9: 110,679,123 (GRCm39) |
S108I |
probably damaging |
Het |
| Ptma |
C |
T |
1: 86,457,498 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,041,297 (GRCm39) |
|
probably null |
Het |
| Rrn3 |
T |
A |
16: 13,630,977 (GRCm39) |
D604E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,239,231 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
G |
3: 72,817,809 (GRCm39) |
L1468P |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,598,745 (GRCm39) |
M1450V |
probably benign |
Het |
| Tppp |
A |
G |
13: 74,169,479 (GRCm39) |
K73R |
possibly damaging |
Het |
| Tut4 |
T |
A |
4: 108,388,152 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
A |
T |
9: 107,855,448 (GRCm39) |
Y375F |
probably damaging |
Het |
| Ugcg |
T |
C |
4: 59,213,931 (GRCm39) |
L171P |
possibly damaging |
Het |
| Vsig2 |
T |
C |
9: 37,453,872 (GRCm39) |
|
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,820 (GRCm39) |
S692T |
possibly damaging |
Het |
|
| Other mutations in Ppm1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02332:Ppm1e
|
APN |
11 |
87,122,568 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02973:Ppm1e
|
APN |
11 |
87,131,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0013:Ppm1e
|
UTSW |
11 |
87,139,884 (GRCm39) |
splice site |
probably benign |
|
|
R0118:Ppm1e
|
UTSW |
11 |
87,122,564 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0420:Ppm1e
|
UTSW |
11 |
87,131,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1400:Ppm1e
|
UTSW |
11 |
87,122,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1827:Ppm1e
|
UTSW |
11 |
87,122,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Ppm1e
|
UTSW |
11 |
87,135,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3778:Ppm1e
|
UTSW |
11 |
87,139,754 (GRCm39) |
splice site |
probably null |
|
|
R4632:Ppm1e
|
UTSW |
11 |
87,122,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Ppm1e
|
UTSW |
11 |
87,121,744 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5288:Ppm1e
|
UTSW |
11 |
87,249,377 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5364:Ppm1e
|
UTSW |
11 |
87,128,007 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5384:Ppm1e
|
UTSW |
11 |
87,249,377 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5386:Ppm1e
|
UTSW |
11 |
87,249,377 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5468:Ppm1e
|
UTSW |
11 |
87,121,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8247:Ppm1e
|
UTSW |
11 |
87,122,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9550:Ppm1e
|
UTSW |
11 |
87,121,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation