Incidental Mutation 'R5360:Ppp2r2a'
ID |
424309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp2r2a
|
Ensembl Gene |
ENSMUSG00000022052 |
Gene Name |
protein phosphatase 2, regulatory subunit B, alpha |
Synonyms |
2410004D02Rik |
MMRRC Submission |
042939-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5360 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
67251505-67309893 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 67254020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 383
(R383*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089230]
[ENSMUST00000225251]
[ENSMUST00000225380]
|
AlphaFold |
Q6P1F6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000089230
AA Change: R383*
|
SMART Domains |
Protein: ENSMUSP00000086640 Gene: ENSMUSG00000022052 AA Change: R383*
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
T |
A |
19: 55,279,592 (GRCm39) |
Y443* |
probably null |
Het |
Aox3 |
C |
T |
1: 58,185,667 (GRCm39) |
T331M |
probably damaging |
Het |
Arhgap32 |
G |
A |
9: 32,170,967 (GRCm39) |
R1598H |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,106,436 (GRCm39) |
|
probably null |
Het |
Brpf3 |
A |
T |
17: 29,029,536 (GRCm39) |
M499L |
probably benign |
Het |
Cacnb1 |
A |
T |
11: 97,909,097 (GRCm39) |
|
probably null |
Het |
Cep295 |
A |
G |
9: 15,238,029 (GRCm39) |
S1899P |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,446,595 (GRCm39) |
Y748H |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,532,599 (GRCm39) |
Y2532F |
probably damaging |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Dsg1a |
A |
G |
18: 20,474,011 (GRCm39) |
D1028G |
probably damaging |
Het |
Eif1ad16 |
A |
C |
12: 87,985,265 (GRCm39) |
L93V |
probably benign |
Het |
Elp1 |
A |
T |
4: 56,800,104 (GRCm39) |
H7Q |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gabra5 |
C |
T |
7: 57,140,533 (GRCm39) |
G55R |
probably damaging |
Het |
Gdf9 |
T |
A |
11: 53,328,034 (GRCm39) |
F330Y |
probably benign |
Het |
Gimap8 |
T |
C |
6: 48,633,236 (GRCm39) |
S352P |
probably damaging |
Het |
Gm4952 |
A |
T |
19: 12,600,993 (GRCm39) |
H71L |
probably benign |
Het |
Gnaq |
G |
A |
19: 16,110,790 (GRCm39) |
R34H |
probably benign |
Het |
Hebp2 |
T |
C |
10: 18,420,055 (GRCm39) |
D126G |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,453,464 (GRCm39) |
D601G |
possibly damaging |
Het |
Hook2 |
T |
C |
8: 85,728,033 (GRCm39) |
Y577H |
probably damaging |
Het |
Igfals |
A |
G |
17: 25,099,067 (GRCm39) |
T53A |
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,222,968 (GRCm39) |
D123G |
probably damaging |
Het |
Ilrun |
A |
T |
17: 28,013,020 (GRCm39) |
I59N |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Mdm4 |
A |
T |
1: 132,919,396 (GRCm39) |
*490K |
probably null |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Neurl2 |
C |
A |
2: 164,675,021 (GRCm39) |
A114S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,876,075 (GRCm39) |
T563A |
probably damaging |
Het |
Or8g32 |
T |
G |
9: 39,305,698 (GRCm39) |
F204V |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pdlim1 |
A |
T |
19: 40,218,993 (GRCm39) |
S213T |
probably damaging |
Het |
Pitx1 |
T |
C |
13: 55,976,291 (GRCm39) |
I123V |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,829,204 (GRCm39) |
N1013D |
probably benign |
Het |
Pla2g2c |
T |
A |
4: 138,461,656 (GRCm39) |
Y42N |
possibly damaging |
Het |
Polr2b |
G |
A |
5: 77,496,993 (GRCm39) |
A1168T |
possibly damaging |
Het |
Prl7a2 |
C |
T |
13: 27,843,143 (GRCm39) |
R220H |
probably benign |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rc3h2 |
A |
G |
2: 37,279,867 (GRCm39) |
V454A |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,732,665 (GRCm39) |
T307A |
probably damaging |
Het |
Slc22a6 |
T |
C |
19: 8,596,786 (GRCm39) |
L188P |
probably damaging |
Het |
Spag17 |
A |
G |
3: 100,016,726 (GRCm39) |
N2167S |
probably benign |
Het |
Spag5 |
G |
A |
11: 78,205,588 (GRCm39) |
E680K |
probably damaging |
Het |
Spata6 |
A |
G |
4: 111,680,026 (GRCm39) |
Y428C |
possibly damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,291,660 (GRCm39) |
D47G |
probably benign |
Het |
Trp53 |
T |
C |
11: 69,479,566 (GRCm39) |
|
probably null |
Het |
Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
Ttc39b |
T |
C |
4: 83,180,084 (GRCm39) |
D103G |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,750,322 (GRCm39) |
W3576G |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,972,912 (GRCm39) |
M22K |
probably damaging |
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 |
IGL03148:Ppp2r2a
|
APN |
14 |
67,259,744 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGCAGGAAGTGGCTCCTCTG -3'
(R):5'- TAAAGTGCTGGGCCAGGATG -3'
Sequencing Primer
(F):5'- AGTGGCTCCTCTGCAGAGAATG -3'
(R):5'- CAGGATGGTCACTGACTTCTTACAG -3'
|
Posted On |
2016-08-04 |