Incidental Mutation 'R3695:Ppp2r2a'
| ID |
268950 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3695 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
67251505-67309893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67257199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 344
(D344Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089230]
[ENSMUST00000225251]
[ENSMUST00000225380]
|
| AlphaFold |
Q6P1F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089230
AA Change: D344Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: D344Y
| 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 damaging
Transcript: ENSMUST00000225380
AA Change: D344Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225469
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 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 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,408,696 (GRCm39) |
N286S |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,626,194 (GRCm39) |
T129I |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
| Gabrr2 |
A |
G |
4: 33,071,430 (GRCm39) |
D65G |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,792,704 (GRCm39) |
T343K |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,403 (GRCm39) |
D97G |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Mdm4 |
A |
G |
1: 132,919,731 (GRCm39) |
L379S |
probably benign |
Het |
| Or8j3c |
T |
C |
2: 86,253,987 (GRCm39) |
E11G |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,215 (GRCm39) |
I289N |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,066,888 (GRCm39) |
F154S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,688,973 (GRCm39) |
D171G |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Syk |
A |
G |
13: 52,776,801 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,604,949 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
A |
T |
1: 182,802,912 (GRCm39) |
R739W |
probably damaging |
Het |
| Tns2 |
G |
T |
15: 102,021,184 (GRCm39) |
V942L |
probably null |
Het |
| Tsnaxip1 |
A |
G |
8: 106,560,167 (GRCm39) |
T40A |
possibly damaging |
Het |
| Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
| Wscd2 |
T |
A |
5: 113,689,078 (GRCm39) |
I28N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTATTCACAGCTACCTGGAAG -3'
(R):5'- GTGCACTGCAATACCCAGAAAG -3'
Sequencing Primer
(F):5'- CCTGGAAGAAAAGTGACTCTTAACTG -3'
(R):5'- TGTGAGTAAGGGTTGTCAAAAGTAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation