Incidental Mutation 'R6474:Ppm1l'
| ID |
516722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1l
|
| Ensembl Gene |
ENSMUSG00000027784 |
| Gene Name |
protein phosphatase 1 (formerly 2C)-like |
| Synonyms |
Pp2ce, 5930404J21Rik, PP2C-epsilon |
| MMRRC Submission |
044607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R6474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
69224251-69468131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69460374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 317
(I317N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029355]
|
| AlphaFold |
Q8BHN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029355
AA Change: I317N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029355
Gene: ENSMUSG00000027784
AA Change: I317N
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
77 |
349 |
3.17e-75 |
SMART |
|
PP2C_SIG
|
103 |
351 |
1.28e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134037
|
| SMART Domains |
Protein: ENSMUSP00000120467
Gene: ENSMUSG00000027784
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
3 |
106 |
6.3e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.7103 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a null allele show increased body weight and total fat mass, higher blood pressure and plasma glucose levels, lower free fatty acid levels and improved glucose tolerance. Homozygotes for another null allele show postnatal lethality, motor deficits and altered forebrain morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
| Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
| Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
| Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
| Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
| Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
| Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
| Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
| Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
| Sprtn |
G |
T |
8: 125,625,873 (GRCm39) |
E95* |
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
| Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly damaging |
Het |
|
| Other mutations in Ppm1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Ppm1l
|
APN |
3 |
69,225,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02834:Ppm1l
|
APN |
3 |
69,456,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Ppm1l
|
UTSW |
3 |
69,225,309 (GRCm39) |
splice site |
probably benign |
|
|
R0310:Ppm1l
|
UTSW |
3 |
69,456,794 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0557:Ppm1l
|
UTSW |
3 |
69,405,234 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1577:Ppm1l
|
UTSW |
3 |
69,460,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Ppm1l
|
UTSW |
3 |
69,456,813 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4750:Ppm1l
|
UTSW |
3 |
69,456,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4864:Ppm1l
|
UTSW |
3 |
69,449,844 (GRCm39) |
intron |
probably benign |
|
|
R5007:Ppm1l
|
UTSW |
3 |
69,224,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5406:Ppm1l
|
UTSW |
3 |
69,224,927 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6168:Ppm1l
|
UTSW |
3 |
69,456,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6256:Ppm1l
|
UTSW |
3 |
69,405,230 (GRCm39) |
missense |
probably benign |
|
|
R6517:Ppm1l
|
UTSW |
3 |
69,224,916 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6949:Ppm1l
|
UTSW |
3 |
69,456,736 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7029:Ppm1l
|
UTSW |
3 |
69,460,399 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7086:Ppm1l
|
UTSW |
3 |
69,225,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Ppm1l
|
UTSW |
3 |
69,225,044 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9225:Ppm1l
|
UTSW |
3 |
69,460,244 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9329:Ppm1l
|
UTSW |
3 |
69,460,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATCCTAGCCATGTCTCGATC -3'
(R):5'- CTGTGTTGGGACGCATGATC -3'
Sequencing Primer
(F):5'- TCGATCCCTGGGAGACTATC -3'
(R):5'- TGGGACGCATGATCCTAATTATACCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation