Incidental Mutation 'R3775:Ppm1d'
| ID |
273557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1d
|
| Ensembl Gene |
ENSMUSG00000020525 |
| Gene Name |
protein phosphatase 1D magnesium-dependent, delta isoform |
| Synonyms |
Wip1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3775 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85202080-85237897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85227993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 303
(I303T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020835]
[ENSMUST00000127717]
|
| AlphaFold |
Q9QZ67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020835
AA Change: I303T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020835
Gene: ENSMUSG00000020525
AA Change: I303T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
1 |
366 |
1.4e-76 |
SMART |
|
PP2C_SIG
|
78 |
368 |
6.09e0 |
SMART |
|
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
416 |
476 |
1e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127717
AA Change: I158T
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115606
Gene: ENSMUSG00000020525
AA Change: I158T
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
1 |
170 |
2.87e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.9313 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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 member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice show some embryonic lethality. Surviving males have variable abnormalities including runting, reproductive organ atrophy with associated reduced fertility, and reduced life span. Both genders have increased susceptibility to viral infection and reduced lymphocyte function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or13p3 |
C |
T |
4: 118,567,351 (GRCm39) |
T249I |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,011 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
probably damaging |
Het |
|
| Other mutations in Ppm1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02095:Ppm1d
|
APN |
11 |
85,217,832 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02351:Ppm1d
|
APN |
11 |
85,236,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02358:Ppm1d
|
APN |
11 |
85,236,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02496:Ppm1d
|
APN |
11 |
85,230,492 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02667:Ppm1d
|
APN |
11 |
85,223,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Ppm1d
|
APN |
11 |
85,217,770 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03085:Ppm1d
|
APN |
11 |
85,227,989 (GRCm39) |
missense |
probably null |
0.80 |
|
R0114:Ppm1d
|
UTSW |
11 |
85,217,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0606:Ppm1d
|
UTSW |
11 |
85,236,703 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1014:Ppm1d
|
UTSW |
11 |
85,227,980 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1548:Ppm1d
|
UTSW |
11 |
85,230,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Ppm1d
|
UTSW |
11 |
85,227,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4025:Ppm1d
|
UTSW |
11 |
85,236,583 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4065:Ppm1d
|
UTSW |
11 |
85,236,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4067:Ppm1d
|
UTSW |
11 |
85,236,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4118:Ppm1d
|
UTSW |
11 |
85,202,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5169:Ppm1d
|
UTSW |
11 |
85,223,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Ppm1d
|
UTSW |
11 |
85,202,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5861:Ppm1d
|
UTSW |
11 |
85,202,674 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5890:Ppm1d
|
UTSW |
11 |
85,217,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Ppm1d
|
UTSW |
11 |
85,230,498 (GRCm39) |
missense |
probably benign |
|
|
R6992:Ppm1d
|
UTSW |
11 |
85,223,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:Ppm1d
|
UTSW |
11 |
85,227,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7297:Ppm1d
|
UTSW |
11 |
85,236,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7993:Ppm1d
|
UTSW |
11 |
85,217,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Ppm1d
|
UTSW |
11 |
85,230,492 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8697:Ppm1d
|
UTSW |
11 |
85,227,986 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8738:Ppm1d
|
UTSW |
11 |
85,236,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9018:Ppm1d
|
UTSW |
11 |
85,227,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9188:Ppm1d
|
UTSW |
11 |
85,236,747 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Ppm1d
|
UTSW |
11 |
85,230,399 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Ppm1d
|
UTSW |
11 |
85,217,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCATGCTGGTTCTTGAG -3'
(R):5'- TTCAGAGCAATGATACGACACAAG -3'
Sequencing Primer
(F):5'- AACAGACTAGGGACTGTCCTTTAGTC -3'
(R):5'- GACAAACCTCCTTAGCTAGACTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation