Incidental Mutation 'IGL01923:Ppm1k'
ID |
180160 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppm1k
|
Ensembl Gene |
ENSMUSG00000037826 |
Gene Name |
protein phosphatase 1K (PP2C domain containing) |
Synonyms |
PP2Cm, 2900063A19Rik, A930026L03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL01923
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
57483487-57512453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57499813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 154
(K154N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042766]
|
AlphaFold |
Q8BXN7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042766
AA Change: K154N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000041395 Gene: ENSMUSG00000037826 AA Change: K154N
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 |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
T |
A |
5: 129,255,143 (GRCm39) |
S597T |
possibly damaging |
Het |
Btnl9 |
T |
C |
11: 49,071,409 (GRCm39) |
D138G |
probably benign |
Het |
Cep135 |
T |
A |
5: 76,788,829 (GRCm39) |
*1141K |
probably null |
Het |
Ctnnd2 |
A |
T |
15: 30,480,974 (GRCm39) |
Q74L |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,950,294 (GRCm39) |
W236R |
probably benign |
Het |
Dixdc1 |
A |
T |
9: 50,606,803 (GRCm39) |
I271N |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,957,182 (GRCm39) |
|
probably null |
Het |
Dnah9 |
C |
A |
11: 66,016,061 (GRCm39) |
|
probably benign |
Het |
Dop1a |
A |
T |
9: 86,404,920 (GRCm39) |
Y275F |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,187,811 (GRCm39) |
*2105R |
probably null |
Het |
Eif4a1 |
A |
T |
11: 69,563,129 (GRCm39) |
D25E |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,883,139 (GRCm39) |
I2557N |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm12253 |
G |
T |
11: 58,325,727 (GRCm39) |
|
probably null |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hsd17b7 |
A |
G |
1: 169,787,035 (GRCm39) |
V254A |
probably benign |
Het |
Kif21a |
T |
A |
15: 90,840,633 (GRCm39) |
D143V |
probably damaging |
Het |
Lrrc9 |
T |
C |
12: 72,557,186 (GRCm39) |
V1417A |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,274,237 (GRCm39) |
A4926T |
possibly damaging |
Het |
Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
Myh7 |
A |
G |
14: 55,222,916 (GRCm39) |
|
probably null |
Het |
Or6c65 |
T |
A |
10: 129,603,973 (GRCm39) |
F203I |
probably benign |
Het |
Pbx2 |
A |
G |
17: 34,813,024 (GRCm39) |
D160G |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,619,790 (GRCm39) |
F527L |
probably benign |
Het |
Ppm1b |
T |
C |
17: 85,301,489 (GRCm39) |
L123P |
probably damaging |
Het |
Ppp2r1a |
T |
G |
17: 21,185,731 (GRCm39) |
*590G |
probably null |
Het |
Raver1 |
A |
T |
9: 20,990,536 (GRCm39) |
L589Q |
probably damaging |
Het |
Rrbp1 |
A |
G |
2: 143,832,081 (GRCm39) |
S29P |
probably damaging |
Het |
Senp5 |
A |
G |
16: 31,784,634 (GRCm39) |
Y673H |
probably damaging |
Het |
Serpina3j |
T |
A |
12: 104,281,473 (GRCm39) |
|
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,817,116 (GRCm39) |
E70G |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Stag3 |
A |
G |
5: 138,287,492 (GRCm39) |
Q139R |
probably damaging |
Het |
Sva |
T |
A |
6: 42,019,104 (GRCm39) |
H91Q |
probably benign |
Het |
Tmem263 |
C |
T |
10: 84,950,295 (GRCm39) |
Q29* |
probably null |
Het |
Tpp1 |
T |
C |
7: 105,400,857 (GRCm39) |
N57D |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
T |
A |
6: 124,177,484 (GRCm39) |
I507L |
probably benign |
Het |
Wdr11 |
A |
T |
7: 129,234,046 (GRCm39) |
|
probably null |
Het |
Zfp236 |
C |
T |
18: 82,700,344 (GRCm39) |
E42K |
probably 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 |
|
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 |
|
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 |
|
|
Posted On |
2014-05-07 |