Incidental Mutation 'R0970:Ppm1f'
| ID |
84038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1f
|
| Ensembl Gene |
ENSMUSG00000026181 |
| Gene Name |
protein phosphatase 1F (PP2C domain containing) |
| Synonyms |
1110021B16Rik, 4933427B07Rik |
| MMRRC Submission |
039099-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
16714333-16745228 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 16721457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027373]
[ENSMUST00000232247]
|
| AlphaFold |
Q8CGA0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027373
|
| SMART Domains |
Protein: ENSMUSP00000027373
Gene: ENSMUSG00000026181
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232247
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,661,364 (GRCm39) |
S307P |
probably damaging |
Het |
| Amdhd2 |
C |
T |
17: 24,375,544 (GRCm39) |
|
probably null |
Het |
| Ano1 |
A |
T |
7: 144,149,308 (GRCm39) |
M851K |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,740,834 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
A |
G |
9: 111,965,516 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| C87436 |
G |
A |
6: 86,424,310 (GRCm39) |
V281M |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,157,652 (GRCm39) |
K184E |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,370,208 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,465,438 (GRCm39) |
T383A |
probably benign |
Het |
| Commd5 |
A |
T |
15: 76,784,885 (GRCm39) |
|
probably null |
Het |
| Cyp4b1 |
G |
A |
4: 115,492,833 (GRCm39) |
A292V |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,324 (GRCm39) |
L696P |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,514,722 (GRCm39) |
R510G |
probably damaging |
Het |
| Eno3 |
T |
C |
11: 70,551,628 (GRCm39) |
I196T |
probably damaging |
Het |
| Eva1a |
A |
G |
6: 82,069,084 (GRCm39) |
E137G |
probably damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,620,625 (GRCm39) |
|
probably null |
Het |
| Ggnbp2 |
T |
C |
11: 84,753,138 (GRCm39) |
M34V |
possibly damaging |
Het |
| Gpihbp1 |
G |
A |
15: 75,469,795 (GRCm39) |
S170N |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,942,092 (GRCm39) |
S528P |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,613,372 (GRCm39) |
Q832L |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,233,901 (GRCm39) |
P1861Q |
probably damaging |
Het |
| Or52n5 |
A |
C |
7: 104,588,284 (GRCm39) |
M184L |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,213,549 (GRCm39) |
I1782N |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,304,983 (GRCm39) |
S1757T |
probably damaging |
Het |
| Plxnb1 |
G |
T |
9: 108,932,331 (GRCm39) |
W523C |
probably damaging |
Het |
| Pmm2 |
G |
T |
16: 8,460,640 (GRCm39) |
L31F |
probably damaging |
Het |
| Prss16 |
T |
C |
13: 22,189,287 (GRCm39) |
Y34C |
probably damaging |
Het |
| Slc10a2 |
C |
G |
8: 5,155,115 (GRCm39) |
E23D |
probably benign |
Het |
| Smc5 |
T |
A |
19: 23,216,362 (GRCm39) |
I489F |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,343,762 (GRCm39) |
|
probably benign |
Het |
| Stradb |
C |
T |
1: 59,016,219 (GRCm39) |
L3F |
possibly damaging |
Het |
| Tnxb |
C |
G |
17: 34,917,917 (GRCm39) |
P2277A |
possibly damaging |
Het |
| Tpm2 |
T |
A |
4: 43,515,968 (GRCm39) |
I270F |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,335 (GRCm39) |
L1484Q |
possibly damaging |
Het |
| Xylt1 |
G |
A |
7: 117,233,963 (GRCm39) |
V497I |
probably damaging |
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 |
|
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 |
|
R5456:Ppm1f
|
UTSW |
16 |
16,741,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AAGGCAGGACACATGTACTCCACG -3'
(R):5'- GCATTTACTCAGGAAGAGACGGCAC -3'
Sequencing Primer
(F):5'- GACTTGACTGGAGACTGTCTCAC -3'
(R):5'- CGGCACTGGATGACAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation