Incidental Mutation 'R3751:Ppm1k'
| ID |
271204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1k
|
| Ensembl Gene |
ENSMUSG00000037826 |
| Gene Name |
protein phosphatase 1K (PP2C domain containing) |
| Synonyms |
PP2Cm, 2900063A19Rik, A930026L03Rik |
| MMRRC Submission |
040736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R3751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57483487-57512453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 57501845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 106
(E106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042766]
|
| AlphaFold |
Q8BXN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042766
AA Change: E106A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: E106A
| 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
|
| Meta Mutation Damage Score |
0.1705 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
93% (43/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,289,973 (GRCm39) |
R183I |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,453,361 (GRCm39) |
|
probably null |
Het |
| BC051665 |
A |
T |
13: 60,931,145 (GRCm39) |
F258I |
probably damaging |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,814,459 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ceacam18 |
T |
A |
7: 43,291,372 (GRCm39) |
H271Q |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,066,213 (GRCm39) |
Y137C |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,724,424 (GRCm39) |
V212A |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,777,216 (GRCm39) |
M885K |
probably benign |
Het |
| Col6a4 |
G |
T |
9: 105,949,313 (GRCm39) |
T774N |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,403 (GRCm39) |
T1049A |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,239 (GRCm39) |
I276V |
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,477,420 (GRCm39) |
H34R |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,801,921 (GRCm39) |
H32L |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,532,998 (GRCm39) |
I141M |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,641 (GRCm39) |
I121N |
probably damaging |
Het |
| Krtap17-1 |
A |
T |
11: 99,884,481 (GRCm39) |
C95* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,058 (GRCm39) |
Y748C |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,867,742 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,997 (GRCm39) |
L31P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,183,284 (GRCm39) |
Q886R |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,118,115 (GRCm39) |
|
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or6c38 |
T |
A |
10: 128,929,175 (GRCm39) |
I223F |
probably damaging |
Het |
| Or7h8 |
C |
T |
9: 20,124,556 (GRCm39) |
L304F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,337,447 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Rnf214 |
A |
C |
9: 45,778,901 (GRCm39) |
I581S |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,417 (GRCm39) |
V1049A |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,295,292 (GRCm39) |
L262P |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,928 (GRCm39) |
V139I |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,250,912 (GRCm39) |
L684M |
probably damaging |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,066 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,382 (GRCm39) |
T152A |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
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 |
|
|
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 |
|
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'- ACTGGATGTTTTAGCCAAAGGGAG -3'
(R):5'- TTCTCCACTTCAGAGGCCAG -3'
Sequencing Primer
(F):5'- GTTTTAGCCAAAGGGAGAACAATTC -3'
(R):5'- ACTTCAGAGGCCAGGTGTTCTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation