Incidental Mutation 'R5456:Ppm1f'
| ID |
432771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1f
|
| Ensembl Gene |
ENSMUSG00000026181 |
| Gene Name |
protein phosphatase 1F (PP2C domain containing) |
| Synonyms |
1110021B16Rik, 4933427B07Rik |
| MMRRC Submission |
043019-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
16714333-16745228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16741610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 361
(D361E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027373]
|
| AlphaFold |
Q8CGA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027373
AA Change: D361E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
AA Change: D361E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PP2Cc
|
25 |
97 |
1e-16 |
BLAST |
|
low complexity region
|
99 |
110 |
N/A |
INTRINSIC |
|
PP2Cc
|
141 |
408 |
3.14e-79 |
SMART |
|
PP2C_SIG
|
168 |
410 |
5.13e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are not detected at weaning. Mice heterozygous for a targeted mutation display hyperactivity and an increase in pain threshold. [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 |
|---|
| Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
| Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
probably benign |
Het |
|
| Other mutations in Ppm1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Ppm1f
|
APN |
16 |
16,741,777 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00495:Ppm1f
|
APN |
16 |
16,728,835 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01024:Ppm1f
|
APN |
16 |
16,741,633 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02076:Ppm1f
|
APN |
16 |
16,732,035 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02332:Ppm1f
|
APN |
16 |
16,731,951 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02422:Ppm1f
|
APN |
16 |
16,735,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02936:Ppm1f
|
APN |
16 |
16,733,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Ppm1f
|
APN |
16 |
16,731,942 (GRCm39) |
missense |
probably null |
0.03 |
|
R0348:Ppm1f
|
UTSW |
16 |
16,721,254 (GRCm39) |
start codon destroyed |
probably null |
0.71 |
|
R0621:Ppm1f
|
UTSW |
16 |
16,733,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0970:Ppm1f
|
UTSW |
16 |
16,721,457 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1785:Ppm1f
|
UTSW |
16 |
16,728,834 (GRCm39) |
missense |
probably benign |
|
|
R1812:Ppm1f
|
UTSW |
16 |
16,735,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Ppm1f
|
UTSW |
16 |
16,741,530 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2080:Ppm1f
|
UTSW |
16 |
16,741,744 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3687:Ppm1f
|
UTSW |
16 |
16,741,747 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7162:Ppm1f
|
UTSW |
16 |
16,732,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Ppm1f
|
UTSW |
16 |
16,728,819 (GRCm39) |
missense |
probably benign |
|
|
R7391:Ppm1f
|
UTSW |
16 |
16,732,098 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8492:Ppm1f
|
UTSW |
16 |
16,733,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTGGTTCTGAGCACAC -3'
(R):5'- TTCTGAGAGGCCAGTGGACAAG -3'
Sequencing Primer
(F):5'- TGGTTCTGAGCACACGGGAAG -3'
(R):5'- GGACAAGTCCTGGCTTCCTAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation