Incidental Mutation 'R6907:Ppm1k'
ID |
538818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppm1k
|
Ensembl Gene |
ENSMUSG00000037826 |
Gene Name |
protein phosphatase 1K (PP2C domain containing) |
Synonyms |
PP2Cm, 2900063A19Rik, A930026L03Rik |
MMRRC Submission |
044999-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6907 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
57483487-57512453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 57487755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 356
(E356A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042766]
|
AlphaFold |
Q8BXN7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042766
AA Change: E356A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000041395 Gene: ENSMUSG00000037826 AA Change: E356A
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 |
probably benign
Transcript: ENSMUST00000204607
|
Meta Mutation Damage Score |
0.0621 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (38/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
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 |
|
R1425:Ppm1k
|
UTSW |
6 |
57,501,774 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- TGTGCAGTTGACCATAATGATG -3'
(R):5'- TAGAACCAGTTGGCCTTCCAG -3'
Sequencing Primer
(F):5'- TGAAAATACTACTGGGTATGTGGC -3'
(R):5'- CCAGTTGGCCTTCCAGAGAAAG -3'
|
Posted On |
2018-11-06 |