Incidental Mutation 'R1576:Ppp2r2a'
| ID |
171181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r2a
|
| Ensembl Gene |
ENSMUSG00000022052 |
| Gene Name |
protein phosphatase 2, regulatory subunit B, alpha |
| Synonyms |
2410004D02Rik |
| MMRRC Submission |
039614-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
67251505-67309893 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 67276318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089230]
[ENSMUST00000225251]
[ENSMUST00000225380]
|
| AlphaFold |
Q6P1F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089230
|
| SMART Domains |
Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
| 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 |
probably benign
Transcript: ENSMUST00000225251
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225469
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
| Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
| Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
| Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
| Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
| Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
| Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
| Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
| Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
| Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
| Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
| Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
| Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTAAGCCTTGAGAGGTCAACT -3'
(R):5'- AGCAAATCCCACAAATAAGTGTCTGGT -3'
Sequencing Primer
(F):5'- GGGTAAAGACTTCAAATCTGGCTC -3'
(R):5'- TGGAGAATGCTGATATGAACATCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation