Incidental Mutation 'IGL01923:Ppm1b'
| ID |
180168 |
| 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 # |
IGL01923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
85264169-85331419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85301489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 123
(L123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080217]
[ENSMUST00000112304]
[ENSMUST00000112305]
[ENSMUST00000112307]
|
| AlphaFold |
P36993 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080217
AA Change: L123P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079107
Gene: ENSMUSG00000061130
AA Change: L123P
| 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 |
possibly damaging
Transcript: ENSMUST00000112304
AA Change: L123P
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
AA Change: L123P
| 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 |
possibly damaging
Transcript: ENSMUST00000112305
AA Change: L123P
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107924
Gene: ENSMUSG00000061130
AA Change: L123P
| 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 |
possibly damaging
Transcript: ENSMUST00000112307
AA Change: L123P
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107926
Gene: ENSMUSG00000061130
AA Change: L123P
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
A |
5: 129,255,143 (GRCm39) |
S597T |
possibly damaging |
Het |
| Btnl9 |
T |
C |
11: 49,071,409 (GRCm39) |
D138G |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,788,829 (GRCm39) |
*1141K |
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,480,974 (GRCm39) |
Q74L |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,950,294 (GRCm39) |
W236R |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,606,803 (GRCm39) |
I271N |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,182 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
A |
11: 66,016,061 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,404,920 (GRCm39) |
Y275F |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,811 (GRCm39) |
*2105R |
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,563,129 (GRCm39) |
D25E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,139 (GRCm39) |
I2557N |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,325,727 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,787,035 (GRCm39) |
V254A |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,840,633 (GRCm39) |
D143V |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,186 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,274,237 (GRCm39) |
A4926T |
possibly damaging |
Het |
| Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,916 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
T |
A |
10: 129,603,973 (GRCm39) |
F203I |
probably benign |
Het |
| Pbx2 |
A |
G |
17: 34,813,024 (GRCm39) |
D160G |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,619,790 (GRCm39) |
F527L |
probably benign |
Het |
| Ppm1k |
T |
A |
6: 57,499,813 (GRCm39) |
K154N |
probably benign |
Het |
| Ppp2r1a |
T |
G |
17: 21,185,731 (GRCm39) |
*590G |
probably null |
Het |
| Raver1 |
A |
T |
9: 20,990,536 (GRCm39) |
L589Q |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,081 (GRCm39) |
S29P |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,784,634 (GRCm39) |
Y673H |
probably damaging |
Het |
| Serpina3j |
T |
A |
12: 104,281,473 (GRCm39) |
|
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,116 (GRCm39) |
E70G |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,287,492 (GRCm39) |
Q139R |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,019,104 (GRCm39) |
H91Q |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,295 (GRCm39) |
Q29* |
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,400,857 (GRCm39) |
N57D |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,484 (GRCm39) |
I507L |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,234,046 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,700,344 (GRCm39) |
E42K |
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 |
|
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 |
2014-05-07 |
Incidental Mutation