Incidental Mutation 'IGL00500:Ppm1b'
| ID |
3407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppm1b
|
| Ensembl Gene |
ENSMUSG00000061130 |
| Gene Name |
protein phosphatase 1B, magnesium dependent, beta isoform |
| Synonyms |
PP2CB |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85264169-85331419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85310712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 289
(S289G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107926
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080217]
[ENSMUST00000112304]
[ENSMUST00000112305]
[ENSMUST00000112307]
|
| AlphaFold |
P36993 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080217
AA Change: S289G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: S289G
| 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 damaging
Transcript: ENSMUST00000112304
AA Change: S289G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
AA Change: S289G
| 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 damaging
Transcript: ENSMUST00000112305
AA Change: S289G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
AA Change: S289G
| 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 damaging
Transcript: ENSMUST00000112307
AA Change: S289G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
AA Change: S289G
| 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 |
|
| Coding Region Coverage |
|
| 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 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 |
|---|
| Acsm3 |
A |
G |
7: 119,383,567 (GRCm39) |
E576G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
| AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
| Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,931,946 (GRCm39) |
Q114R |
probably benign |
Het |
| B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
| Chrna10 |
A |
T |
7: 101,761,615 (GRCm39) |
C325* |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
| Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
| Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,400,581 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
| Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
| Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
| Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
| Rab40c |
T |
C |
17: 26,104,059 (GRCm39) |
E111G |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,051,906 (GRCm39) |
C85S |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
| Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
| Other mutations in Ppm1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3053:Ppm1b
|
UTSW |
17 |
85,321,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation