Incidental Mutation 'V5622:Ppp2r5a'
| ID |
166123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r5a
|
| Ensembl Gene |
ENSMUSG00000026626 |
| Gene Name |
protein phosphatase 2, regulatory subunit B', alpha |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
V5622 ()
of strain
521
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
191084178-191129238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 191091198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 210
(V210I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067976]
|
| AlphaFold |
Q6PD03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067976
AA Change: V210I
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626
AA Change: V210I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
|
Pfam:B56
|
56 |
462 |
3.6e-193 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195605
|
| Coding Region Coverage |
- 1x: 94.1%
- 3x: 94.1%
- 10x: 94.0%
- 20x: 93.9%
|
| 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 an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
T |
4: 148,026,233 (GRCm39) |
S251F |
probably benign |
Het |
| Ccar2 |
G |
T |
14: 70,388,738 (GRCm39) |
L158I |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Gm10719 |
A |
G |
9: 3,021,253 (GRCm39) |
|
probably null |
Het |
| Gm10720 |
A |
C |
9: 3,015,669 (GRCm39) |
N6H |
probably benign |
Het |
| Gm21738 |
C |
T |
14: 19,417,180 (GRCm38) |
C116Y |
probably damaging |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
A |
G |
1: 88,205,247 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,261,049 (GRCm39) |
Q1648K |
probably damaging |
Het |
| Hvcn1 |
TGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAG |
5: 122,371,602 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
C |
A |
9: 64,597,351 (GRCm39) |
C674* |
probably null |
Het |
| Mroh2a |
C |
T |
1: 88,154,813 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,643 (GRCm39) |
S568P |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Npm1 |
C |
T |
11: 33,111,186 (GRCm39) |
V60I |
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,974,598 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,201 (GRCm39) |
S363P |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,333 (GRCm39) |
I602T |
probably benign |
Het |
| Vmn2r117 |
C |
T |
17: 23,696,814 (GRCm39) |
A198T |
probably damaging |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,584 (GRCm39) |
T99S |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 23,781,456 (GRCm39) |
|
probably benign |
Het |
| Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ppp2r5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03297:Ppp2r5a
|
APN |
1 |
191,086,959 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1640:Ppp2r5a
|
UTSW |
1 |
191,086,126 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3005:Ppp2r5a
|
UTSW |
1 |
191,091,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Ppp2r5a
|
UTSW |
1 |
191,088,589 (GRCm39) |
unclassified |
probably benign |
|
|
R5730:Ppp2r5a
|
UTSW |
1 |
191,104,732 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5769:Ppp2r5a
|
UTSW |
1 |
191,104,863 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5783:Ppp2r5a
|
UTSW |
1 |
191,086,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6215:Ppp2r5a
|
UTSW |
1 |
191,094,447 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7311:Ppp2r5a
|
UTSW |
1 |
191,089,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Ppp2r5a
|
UTSW |
1 |
191,128,532 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7545:Ppp2r5a
|
UTSW |
1 |
191,104,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8934:Ppp2r5a
|
UTSW |
1 |
191,100,835 (GRCm39) |
splice site |
probably benign |
|
|
R9166:Ppp2r5a
|
UTSW |
1 |
191,128,504 (GRCm39) |
missense |
probably benign |
0.26 |
|
V5622:Ppp2r5a
|
UTSW |
1 |
191,091,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-04-07 |
Incidental Mutation