Incidental Mutation 'R5854:Ppp2r5b'
| ID |
454843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r5b
|
| Ensembl Gene |
ENSMUSG00000024777 |
| Gene Name |
protein phosphatase 2, regulatory subunit B', beta |
| Synonyms |
B'beta |
| MMRRC Submission |
043228-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.382)
|
| Stock # |
R5854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6277795-6285902 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6280974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 285
(L285S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025695]
[ENSMUST00000025698]
[ENSMUST00000113526]
|
| AlphaFold |
Q6PD28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025695
AA Change: L285S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025695
Gene: ENSMUSG00000024777
AA Change: L285S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
48 |
N/A |
INTRINSIC |
|
Pfam:B56
|
62 |
467 |
5.2e-187 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025698
|
| SMART Domains |
Protein: ENSMUSP00000025698
Gene: ENSMUSG00000024784
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
15 |
N/A |
INTRINSIC |
|
Pfam:DAN
|
17 |
126 |
5.1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113526
|
| SMART Domains |
Protein: ENSMUSP00000109154
Gene: ENSMUSG00000024784
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
15 |
N/A |
INTRINSIC |
|
Pfam:DAN
|
16 |
123 |
1.9e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153155
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atg4c |
G |
A |
4: 99,116,796 (GRCm39) |
V313I |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
| Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
| Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
| Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
| Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
| Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
| Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
| Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
| Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
| Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Ppp2r5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00598:Ppp2r5b
|
APN |
19 |
6,280,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02714:Ppp2r5b
|
APN |
19 |
6,284,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02937:Ppp2r5b
|
APN |
19 |
6,281,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Ppp2r5b
|
UTSW |
19 |
6,284,713 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0114:Ppp2r5b
|
UTSW |
19 |
6,278,461 (GRCm39) |
missense |
probably benign |
|
|
R0333:Ppp2r5b
|
UTSW |
19 |
6,279,077 (GRCm39) |
unclassified |
probably benign |
|
|
R0627:Ppp2r5b
|
UTSW |
19 |
6,282,664 (GRCm39) |
unclassified |
probably benign |
|
|
R1477:Ppp2r5b
|
UTSW |
19 |
6,280,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1628:Ppp2r5b
|
UTSW |
19 |
6,280,935 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4066:Ppp2r5b
|
UTSW |
19 |
6,279,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Ppp2r5b
|
UTSW |
19 |
6,280,540 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5895:Ppp2r5b
|
UTSW |
19 |
6,284,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Ppp2r5b
|
UTSW |
19 |
6,284,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6285:Ppp2r5b
|
UTSW |
19 |
6,280,566 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7087:Ppp2r5b
|
UTSW |
19 |
6,282,580 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7391:Ppp2r5b
|
UTSW |
19 |
6,278,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7576:Ppp2r5b
|
UTSW |
19 |
6,278,514 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7799:Ppp2r5b
|
UTSW |
19 |
6,282,628 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACACTGAATTAGTAGGGCC -3'
(R):5'- TCATCTACGAGCTGGAACAC -3'
Sequencing Primer
(F):5'- CACTGAATTAGTAGGGCCTCAGG -3'
(R):5'- TCTACGAGCTGGAACACTTCAATGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation