Incidental Mutation 'R3015:Ppme1'
| ID |
257641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppme1
|
| Ensembl Gene |
ENSMUSG00000030718 |
| Gene Name |
protein phosphatase methylesterase 1 |
| Synonyms |
2700017M01Rik, PME-1, 1110069N17Rik |
| MMRRC Submission |
040536-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3015 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99975944-100021103 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99981084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 352
(H352R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032963]
|
| AlphaFold |
Q8BVQ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032963
AA Change: H352R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032963
Gene: ENSMUSG00000030718
AA Change: H352R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
25 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
73 |
199 |
5.2e-13 |
PFAM |
|
Pfam:Abhydrolase_1
|
77 |
356 |
7.4e-17 |
PFAM |
|
Pfam:Abhydrolase_5
|
78 |
259 |
1.3e-14 |
PFAM |
|
Pfam:Abhydrolase_6
|
79 |
362 |
2.4e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207634
|
| Meta Mutation Damage Score |
0.9083 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Targeted disruption of this gene causes virtual loss of the demethylated form of phosphoprotein phosphatase 2A in the nervous system and peripheral tissues. Homozygous null mice fail to initiate normal breathing or suckling behavior and die within the first day of life. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,913 (GRCm39) |
H380R |
probably benign |
Het |
| Aff3 |
A |
T |
1: 38,249,649 (GRCm39) |
I486N |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,929,611 (GRCm39) |
F76Y |
probably damaging |
Het |
| Cfap44 |
A |
C |
16: 44,230,832 (GRCm39) |
D271A |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,270 (GRCm39) |
V34D |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,733,732 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,774,838 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,499,024 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,221 (GRCm39) |
G60S |
probably null |
Het |
| Ints9 |
T |
A |
14: 65,187,727 (GRCm39) |
W3R |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 66,993,711 (GRCm39) |
E64G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,512 (GRCm39) |
H1321Q |
probably damaging |
Het |
| Matn3 |
A |
C |
12: 9,002,217 (GRCm39) |
Q143P |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,749,846 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
C |
14: 55,988,631 (GRCm39) |
S358P |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,384,037 (GRCm39) |
S801P |
probably damaging |
Het |
| Pax2 |
T |
C |
19: 44,804,463 (GRCm39) |
F268L |
probably damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,823,771 (GRCm39) |
I538T |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,599,107 (GRCm39) |
S214P |
probably benign |
Het |
| Ppp1r26 |
A |
C |
2: 28,342,314 (GRCm39) |
D648A |
probably damaging |
Het |
| Prom1 |
C |
A |
5: 44,191,733 (GRCm39) |
V337F |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,028,717 (GRCm39) |
I378T |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,661,675 (GRCm39) |
S43P |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,480 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
T |
2: 66,530,240 (GRCm39) |
Q702K |
probably benign |
Het |
| Shisal2b |
T |
A |
13: 104,994,899 (GRCm39) |
I83F |
possibly damaging |
Het |
| Slc2a1 |
T |
A |
4: 118,989,340 (GRCm39) |
N13K |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,715,829 (GRCm39) |
I864V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,650 (GRCm39) |
M196K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Umod |
T |
C |
7: 119,071,763 (GRCm39) |
D326G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,890 (GRCm39) |
D492G |
unknown |
Het |
| Vash1 |
A |
G |
12: 86,732,194 (GRCm39) |
T126A |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,116,881 (GRCm39) |
I574K |
possibly damaging |
Het |
|
| Other mutations in Ppme1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02138:Ppme1
|
APN |
7 |
99,983,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Ppme1
|
APN |
7 |
99,987,647 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0328:Ppme1
|
UTSW |
7 |
99,983,182 (GRCm39) |
splice site |
probably null |
|
|
R4042:Ppme1
|
UTSW |
7 |
99,990,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Ppme1
|
UTSW |
7 |
99,997,044 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4987:Ppme1
|
UTSW |
7 |
99,994,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5579:Ppme1
|
UTSW |
7 |
99,994,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Ppme1
|
UTSW |
7 |
100,004,002 (GRCm39) |
nonsense |
probably null |
|
|
R6035:Ppme1
|
UTSW |
7 |
100,004,002 (GRCm39) |
nonsense |
probably null |
|
|
R6374:Ppme1
|
UTSW |
7 |
99,990,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Ppme1
|
UTSW |
7 |
99,987,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7092:Ppme1
|
UTSW |
7 |
100,021,029 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R7468:Ppme1
|
UTSW |
7 |
99,991,069 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8412:Ppme1
|
UTSW |
7 |
99,984,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8461:Ppme1
|
UTSW |
7 |
100,021,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGACCTTAGCCACAGGG -3'
(R):5'- CAACATGGGTCCAGTTACACTC -3'
Sequencing Primer
(F):5'- GGTACCAGCAGCTCTTCAG -3'
(R):5'- TACACTCATCAGACTATCCTGGGGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation