Incidental Mutation 'R4387:Ppm1b'
| ID |
326288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppm1b
|
| Ensembl Gene |
ENSMUSG00000061130 |
| Gene Name |
protein phosphatase 1B, magnesium dependent, beta isoform |
| Synonyms |
PP2CB |
| MMRRC Submission |
041681-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4387 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
85264169-85331419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85322847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 382
(D382G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080217]
[ENSMUST00000112304]
[ENSMUST00000112305]
[ENSMUST00000112307]
|
| AlphaFold |
P36993 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080217
|
| SMART Domains |
Protein: ENSMUSP00000079107
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 |
9e-16 |
BLAST |
|
low complexity region
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112304
AA Change: D382G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107923
Gene: ENSMUSG00000061130
AA Change: D382G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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 |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,782,715 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,581 (GRCm39) |
N240Y |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,031,366 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,540,479 (GRCm39) |
D364G |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,941,640 (GRCm39) |
V187D |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,345 (GRCm39) |
S434I |
probably damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,439,053 (GRCm39) |
L174Q |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,243,903 (GRCm39) |
R91S |
possibly damaging |
Het |
| Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
| Gtpbp2 |
A |
G |
17: 46,477,284 (GRCm39) |
D383G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,843 (GRCm39) |
I125F |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,278 (GRCm39) |
E74G |
probably damaging |
Het |
| Mgat4d |
A |
T |
8: 84,098,335 (GRCm39) |
Q366L |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,386,778 (GRCm39) |
N256D |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,907,219 (GRCm39) |
T740A |
possibly damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Or8k33 |
T |
C |
2: 86,384,298 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,464 (GRCm39) |
D206V |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,523,001 (GRCm39) |
I36T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,449,785 (GRCm39) |
L914M |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,453,413 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,769,570 (GRCm39) |
Y432N |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Shoc1 |
A |
T |
4: 59,060,915 (GRCm39) |
C953S |
possibly damaging |
Het |
| Slit3 |
T |
C |
11: 35,574,875 (GRCm39) |
V1063A |
probably benign |
Het |
| Spdye4a |
A |
G |
5: 143,211,378 (GRCm39) |
V62A |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,689,836 (GRCm39) |
G509S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,175,628 (GRCm39) |
T1242M |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,284,681 (GRCm39) |
S1155G |
unknown |
Het |
| Zfp551 |
A |
T |
7: 12,152,568 (GRCm39) |
I55N |
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 |
|
R3053:Ppm1b
|
UTSW |
17 |
85,321,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3085:Ppm1b
|
UTSW |
17 |
85,321,288 (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'- TAGAGTGCACACATCGCTC -3'
(R):5'- TAACCAGATGCCTGAGGTTGG -3'
Sequencing Primer
(F):5'- GCACACATCGCTCTGTTCAGATG -3'
(R):5'- TACTGTAGAGTCCAGGCAATGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation