Incidental Mutation 'R3053:Ppm1b'
| ID |
265051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1b
|
| Ensembl Gene |
ENSMUSG00000061130 |
| Gene Name |
protein phosphatase 1B, magnesium dependent, beta isoform |
| Synonyms |
PP2CB |
| MMRRC Submission |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
85264169-85331419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85321274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 472
(R472K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080217]
[ENSMUST00000112304]
[ENSMUST00000112305]
[ENSMUST00000112307]
|
| AlphaFold |
P36993 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080217
AA Change: R472K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: R472K
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
13 |
293 |
1.57e-97 |
SMART |
|
PP2C_SIG
|
38 |
295 |
2.6e-1 |
SMART |
|
Blast:PP2Cc
|
296 |
341 |
9e-16 |
BLAST |
|
low complexity region
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112304
|
| SMART Domains |
Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
13 |
293 |
1.57e-97 |
SMART |
|
PP2C_SIG
|
38 |
295 |
2.6e-1 |
SMART |
|
Blast:PP2Cc
|
296 |
341 |
6e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112305
|
| SMART Domains |
Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
13 |
293 |
1.57e-97 |
SMART |
|
PP2C_SIG
|
38 |
295 |
2.6e-1 |
SMART |
|
Blast:PP2Cc
|
296 |
341 |
6e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112307
|
| SMART Domains |
Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Cc
|
13 |
293 |
1.57e-97 |
SMART |
|
PP2C_SIG
|
38 |
295 |
2.6e-1 |
SMART |
|
Blast:PP2Cc
|
296 |
341 |
5e-16 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| 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 has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO results in early pre-implantation lethality. A hypomorphic mutation results in increased sensitivity to Tnf-induced necroptosis and early death. [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 |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
Het |
|
| Other mutations in Ppm1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Ppm1b
|
APN |
17 |
85,310,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01923:Ppm1b
|
APN |
17 |
85,301,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02974:Ppm1b
|
APN |
17 |
85,301,252 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0190:Ppm1b
|
UTSW |
17 |
85,301,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0576:Ppm1b
|
UTSW |
17 |
85,320,987 (GRCm39) |
splice site |
probably null |
|
|
R1848:Ppm1b
|
UTSW |
17 |
85,301,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2018:Ppm1b
|
UTSW |
17 |
85,301,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Ppm1b
|
UTSW |
17 |
85,301,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Ppm1b
|
UTSW |
17 |
85,321,288 (GRCm39) |
missense |
probably benign |
|
|
R4387:Ppm1b
|
UTSW |
17 |
85,322,847 (GRCm39) |
missense |
probably benign |
|
|
R5353:Ppm1b
|
UTSW |
17 |
85,301,537 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5738:Ppm1b
|
UTSW |
17 |
85,301,374 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5818:Ppm1b
|
UTSW |
17 |
85,301,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7588:Ppm1b
|
UTSW |
17 |
85,320,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8496:Ppm1b
|
UTSW |
17 |
85,301,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Ppm1b
|
UTSW |
17 |
85,301,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Ppm1b
|
UTSW |
17 |
85,301,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTAACCATAGGGGAAACTACCG -3'
(R):5'- CATAAAGGTGTATGCAAAGGCC -3'
Sequencing Primer
(F):5'- GAAACTACCGACAGCTGCTGG -3'
(R):5'- AGCACACAGTATACTTCCT -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation