Incidental Mutation 'IGL03340:Ppm1k'
| ID |
417185 |
| 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 # |
IGL03340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
57483487-57512453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57487711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 371
(W371R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042766]
|
| AlphaFold |
Q8BXN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042766
AA Change: W371R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041395
Gene: ENSMUSG00000037826
AA Change: W371R
| 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
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,126,786 (GRCm39) |
L26P |
probably benign |
Het |
| Aff1 |
A |
T |
5: 103,931,670 (GRCm39) |
H104L |
possibly damaging |
Het |
| Apon |
T |
C |
10: 128,090,847 (GRCm39) |
I175T |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,115,830 (GRCm39) |
F168V |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,685,405 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
G |
A |
17: 25,192,516 (GRCm39) |
P956L |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,344,767 (GRCm39) |
V78M |
probably damaging |
Het |
| Cyp4b1 |
G |
A |
4: 115,499,076 (GRCm39) |
P97S |
probably damaging |
Het |
| Fads2 |
G |
T |
19: 10,069,136 (GRCm39) |
P96Q |
possibly damaging |
Het |
| Fcer2a |
T |
C |
8: 3,738,310 (GRCm39) |
D120G |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,517 (GRCm39) |
S241P |
probably damaging |
Het |
| Gm21972 |
G |
T |
1: 86,061,450 (GRCm39) |
A887S |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,601,003 (GRCm39) |
D295G |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,740,668 (GRCm39) |
V270D |
possibly damaging |
Het |
| Kcnk2 |
T |
A |
1: 189,027,878 (GRCm39) |
I126F |
possibly damaging |
Het |
| Kifap3 |
T |
G |
1: 163,656,718 (GRCm39) |
V346G |
possibly damaging |
Het |
| Kpna1 |
T |
A |
16: 35,820,616 (GRCm39) |
N20K |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,916,298 (GRCm39) |
|
probably benign |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,427 (GRCm39) |
C43R |
possibly damaging |
Het |
| Lars1 |
G |
A |
18: 42,361,715 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
C |
15: 7,207,417 (GRCm39) |
W540R |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,358,981 (GRCm39) |
S631P |
probably damaging |
Het |
| Mbd1 |
G |
T |
18: 74,407,553 (GRCm39) |
R111L |
probably benign |
Het |
| Meltf |
C |
T |
16: 31,711,602 (GRCm39) |
T576M |
probably damaging |
Het |
| Mmp20 |
G |
A |
9: 7,643,995 (GRCm39) |
G228S |
probably damaging |
Het |
| Mob4 |
A |
G |
1: 55,175,867 (GRCm39) |
D37G |
possibly damaging |
Het |
| Msr1 |
T |
C |
8: 40,073,048 (GRCm39) |
K234E |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,899,607 (GRCm39) |
V1764A |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,156,229 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,895,101 (GRCm39) |
V1065A |
probably damaging |
Het |
| Npas4 |
A |
T |
19: 5,035,094 (GRCm39) |
|
probably benign |
Het |
| Or4c124 |
T |
C |
2: 89,156,039 (GRCm39) |
T162A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,269,997 (GRCm39) |
D280G |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,990,125 (GRCm39) |
I182T |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,082,864 (GRCm39) |
|
probably null |
Het |
| Scaper |
G |
T |
9: 55,510,116 (GRCm39) |
T640K |
possibly damaging |
Het |
| Sun3 |
A |
C |
11: 8,973,285 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,111,451 (GRCm39) |
K1056M |
possibly damaging |
Het |
| Tgs1 |
C |
A |
4: 3,604,813 (GRCm39) |
P745Q |
probably benign |
Het |
| Tomm20l |
A |
T |
12: 71,164,388 (GRCm39) |
|
probably benign |
Het |
| Usp38 |
A |
C |
8: 81,738,905 (GRCm39) |
L237V |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,644 (GRCm39) |
Y214C |
probably benign |
Het |
| Zan |
G |
A |
5: 137,426,136 (GRCm39) |
P2547S |
unknown |
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 |
|
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 |
2016-08-02 |
Incidental Mutation