Incidental Mutation 'R1425:Ppm1k'
ID |
161256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppm1k
|
Ensembl Gene |
ENSMUSG00000037826 |
Gene Name |
protein phosphatase 1K (PP2C domain containing) |
Synonyms |
PP2Cm, 2900063A19Rik, A930026L03Rik |
MMRRC Submission |
039481-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R1425 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
57483487-57512453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57501774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 130
(G130R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042766]
|
AlphaFold |
Q8BXN7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042766
AA Change: G130R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041395 Gene: ENSMUSG00000037826 AA Change: G130R
Domain | Start | End | E-Value | Type |
PP2Cc
|
88 |
344 |
2.16e-68 |
SMART |
PP2C_SIG
|
93 |
346 |
1.15e-3 |
SMART |
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204686
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
Validation Efficiency |
|
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 Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012] PHENOTYPE: Mice homozygous for a null allele exhibit defective amino acid metabolism, increased oxidative stress, and increased mortality when subjected to a high-protein diet while in utero and during postnatal development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 9 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6ap1l |
T |
C |
13: 91,047,638 (GRCm39) |
N58S |
possibly damaging |
Het |
Gdpd4 |
A |
T |
7: 97,623,219 (GRCm39) |
T277S |
probably benign |
Het |
Itgb2 |
G |
A |
10: 77,383,130 (GRCm39) |
G167S |
probably null |
Het |
Kcnt2 |
A |
G |
1: 140,310,766 (GRCm39) |
T191A |
probably damaging |
Het |
Or52b1 |
A |
T |
7: 104,978,922 (GRCm39) |
F159Y |
probably damaging |
Het |
Rfc1 |
A |
C |
5: 65,476,861 (GRCm39) |
F6V |
probably damaging |
Het |
Sec14l3 |
A |
G |
11: 4,016,487 (GRCm39) |
E53G |
probably damaging |
Het |
Tas2r115 |
T |
G |
6: 132,714,442 (GRCm39) |
S170R |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,818,894 (GRCm39) |
T366A |
possibly damaging |
Het |
|
Other mutations in Ppm1k |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00941:Ppm1k
|
APN |
6 |
57,501,740 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01395:Ppm1k
|
APN |
6 |
57,490,943 (GRCm39) |
missense |
probably benign |
|
IGL01923:Ppm1k
|
APN |
6 |
57,499,813 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02484:Ppm1k
|
APN |
6 |
57,501,997 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL03149:Ppm1k
|
APN |
6 |
57,501,759 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03340:Ppm1k
|
APN |
6 |
57,487,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1230:Ppm1k
|
UTSW |
6 |
57,502,059 (GRCm39) |
missense |
probably benign |
|
R1522:Ppm1k
|
UTSW |
6 |
57,502,142 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3508:Ppm1k
|
UTSW |
6 |
57,491,975 (GRCm39) |
missense |
probably damaging |
0.99 |
R3751:Ppm1k
|
UTSW |
6 |
57,501,845 (GRCm39) |
missense |
probably benign |
0.01 |
R4845:Ppm1k
|
UTSW |
6 |
57,499,753 (GRCm39) |
nonsense |
probably null |
|
R4914:Ppm1k
|
UTSW |
6 |
57,487,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R4915:Ppm1k
|
UTSW |
6 |
57,487,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R4918:Ppm1k
|
UTSW |
6 |
57,487,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R5430:Ppm1k
|
UTSW |
6 |
57,501,871 (GRCm39) |
nonsense |
probably null |
|
R6907:Ppm1k
|
UTSW |
6 |
57,487,755 (GRCm39) |
missense |
probably benign |
0.01 |
R6962:Ppm1k
|
UTSW |
6 |
57,492,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R7943:Ppm1k
|
UTSW |
6 |
57,501,813 (GRCm39) |
missense |
probably benign |
0.14 |
R8834:Ppm1k
|
UTSW |
6 |
57,502,023 (GRCm39) |
missense |
probably benign |
0.01 |
R9461:Ppm1k
|
UTSW |
6 |
57,487,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R9606:Ppm1k
|
UTSW |
6 |
57,491,057 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9684:Ppm1k
|
UTSW |
6 |
57,487,762 (GRCm39) |
missense |
probably damaging |
0.99 |
R9711:Ppm1k
|
UTSW |
6 |
57,492,720 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Ppm1k
|
UTSW |
6 |
57,490,995 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGACTACCATTCTCTGATGAAGTGGCA -3'
(R):5'- TTGATCCAGATGGAAGTGGGCAGC -3'
Sequencing Primer
(F):5'- CTCTGATGAAGTGGCATGTGG -3'
(R):5'- CAGCCACTTGGGACAATTTTG -3'
|
Posted On |
2014-03-14 |