Incidental Mutation 'IGL03148:Ppp2r2a'
| ID |
410966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp2r2a
|
| Ensembl Gene |
ENSMUSG00000022052 |
| Gene Name |
protein phosphatase 2, regulatory subunit B, alpha |
| Synonyms |
2410004D02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
67251505-67309893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 67259744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 317
(N317K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089230]
[ENSMUST00000225251]
[ENSMUST00000225380]
|
| AlphaFold |
Q6P1F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089230
AA Change: N317K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: N317K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
21 |
56 |
1.33e1 |
SMART |
|
WD40
|
83 |
123 |
6.88e0 |
SMART |
|
WD40
|
165 |
204 |
2.3e0 |
SMART |
|
WD40
|
215 |
255 |
8.88e0 |
SMART |
|
WD40
|
274 |
312 |
5.11e1 |
SMART |
|
WD40
|
339 |
370 |
1.42e2 |
SMART |
|
WD40
|
406 |
443 |
2.47e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225380
AA Change: N317K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225469
|
| Coding Region Coverage |
|
| 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 2 regulatory subunit B family. Protein phosphatase 2 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 B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
G |
11: 99,728,079 (GRCm39) |
S255P |
unknown |
Het |
| Adamtsl2 |
T |
A |
2: 26,974,071 (GRCm39) |
Y125N |
probably damaging |
Het |
| Ankrd9 |
T |
C |
12: 110,943,293 (GRCm39) |
E214G |
probably benign |
Het |
| Bhmt2 |
T |
A |
13: 93,803,161 (GRCm39) |
D124V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,317,874 (GRCm39) |
H271R |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,276,925 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,755,588 (GRCm39) |
I234F |
probably benign |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,278,062 (GRCm39) |
C995Y |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,144 (GRCm39) |
E252G |
probably damaging |
Het |
| Dhrs1 |
A |
T |
14: 55,978,748 (GRCm39) |
Y133* |
probably null |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,075 (GRCm39) |
I1300V |
probably benign |
Het |
| Efcab12 |
T |
C |
6: 115,787,952 (GRCm39) |
Y670C |
probably damaging |
Het |
| Frg1 |
T |
G |
8: 41,864,321 (GRCm39) |
K66N |
probably benign |
Het |
| Gbp2b |
C |
A |
3: 142,312,642 (GRCm39) |
H342N |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,959,307 (GRCm39) |
I287S |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,578,203 (GRCm39) |
L150P |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,457,045 (GRCm39) |
R1299Q |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,073,971 (GRCm39) |
N407D |
probably damaging |
Het |
| Mcemp1 |
T |
A |
8: 3,717,390 (GRCm39) |
|
probably null |
Het |
| Nav1 |
A |
C |
1: 135,397,762 (GRCm39) |
N802K |
possibly damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,831 (GRCm39) |
N601K |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,172,053 (GRCm39) |
H564L |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,185 (GRCm39) |
|
probably benign |
Het |
| Pramel47 |
A |
G |
5: 95,489,177 (GRCm39) |
T207A |
possibly damaging |
Het |
| Rars2 |
A |
T |
4: 34,650,243 (GRCm39) |
I343F |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,355,833 (GRCm39) |
F4092S |
probably damaging |
Het |
| Tcp11 |
A |
G |
17: 28,289,444 (GRCm39) |
V209A |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,187,124 (GRCm39) |
S1102G |
probably benign |
Het |
|
| Other mutations in Ppp2r2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01620:Ppp2r2a
|
APN |
14 |
67,307,726 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01997:Ppp2r2a
|
APN |
14 |
67,253,968 (GRCm39) |
missense |
probably benign |
|
|
IGL02024:Ppp2r2a
|
APN |
14 |
67,276,361 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02178:Ppp2r2a
|
APN |
14 |
67,260,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Ppp2r2a
|
APN |
14 |
67,253,977 (GRCm39) |
missense |
probably benign |
0.13 |
|
limber
|
UTSW |
14 |
67,257,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Ppp2r2a
|
UTSW |
14 |
67,266,447 (GRCm39) |
nonsense |
probably null |
|
|
R1576:Ppp2r2a
|
UTSW |
14 |
67,276,318 (GRCm39) |
splice site |
probably benign |
|
|
R1629:Ppp2r2a
|
UTSW |
14 |
67,257,208 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1662:Ppp2r2a
|
UTSW |
14 |
67,254,052 (GRCm39) |
missense |
probably benign |
|
|
R1808:Ppp2r2a
|
UTSW |
14 |
67,276,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Ppp2r2a
|
UTSW |
14 |
67,253,878 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2121:Ppp2r2a
|
UTSW |
14 |
67,260,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2134:Ppp2r2a
|
UTSW |
14 |
67,253,924 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3150:Ppp2r2a
|
UTSW |
14 |
67,261,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Ppp2r2a
|
UTSW |
14 |
67,257,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Ppp2r2a
|
UTSW |
14 |
67,257,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Ppp2r2a
|
UTSW |
14 |
67,259,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4031:Ppp2r2a
|
UTSW |
14 |
67,266,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Ppp2r2a
|
UTSW |
14 |
67,266,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Ppp2r2a
|
UTSW |
14 |
67,266,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4639:Ppp2r2a
|
UTSW |
14 |
67,276,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Ppp2r2a
|
UTSW |
14 |
67,254,086 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5001:Ppp2r2a
|
UTSW |
14 |
67,259,757 (GRCm39) |
nonsense |
probably null |
|
|
R5106:Ppp2r2a
|
UTSW |
14 |
67,260,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Ppp2r2a
|
UTSW |
14 |
67,276,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5360:Ppp2r2a
|
UTSW |
14 |
67,254,020 (GRCm39) |
nonsense |
probably null |
|
|
R5429:Ppp2r2a
|
UTSW |
14 |
67,261,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Ppp2r2a
|
UTSW |
14 |
67,259,772 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6250:Ppp2r2a
|
UTSW |
14 |
67,276,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6582:Ppp2r2a
|
UTSW |
14 |
67,257,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Ppp2r2a
|
UTSW |
14 |
67,261,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8315:Ppp2r2a
|
UTSW |
14 |
67,261,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation