Incidental Mutation 'IGL01620:Ppp2r2a'
| ID |
92481 |
| 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 # |
IGL01620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
67251505-67309893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67307726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 14
(F14I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089230]
[ENSMUST00000225251]
[ENSMUST00000225380]
|
| AlphaFold |
Q6P1F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089230
AA Change: F14I
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000086640
Gene: ENSMUSG00000022052
AA Change: F14I
| 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: ENSMUST00000184709
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225251
AA Change: F14I
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225380
AA Change: F14I
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,385 (GRCm39) |
V277D |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,218 (GRCm39) |
V325D |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,757 (GRCm39) |
|
probably null |
Het |
| Ano9 |
A |
G |
7: 140,690,352 (GRCm39) |
L94P |
probably damaging |
Het |
| Atad3a |
G |
T |
4: 155,830,535 (GRCm39) |
T521K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,504,948 (GRCm39) |
K126E |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,220,713 (GRCm39) |
|
probably benign |
Het |
| Btbd17 |
T |
C |
11: 114,686,599 (GRCm39) |
T26A |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,587,461 (GRCm39) |
S314L |
probably benign |
Het |
| Ccl8 |
A |
T |
11: 82,007,435 (GRCm39) |
Q90L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,257 (GRCm39) |
V355A |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,656,978 (GRCm39) |
I555T |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,815,159 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,758,144 (GRCm39) |
I483T |
probably damaging |
Het |
| Eloc |
T |
A |
1: 16,713,502 (GRCm39) |
|
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,295,119 (GRCm39) |
L177H |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,275,831 (GRCm39) |
K352I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,942,502 (GRCm39) |
E76G |
probably benign |
Het |
| Flot1 |
A |
T |
17: 36,140,763 (GRCm39) |
E203V |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,529 (GRCm39) |
K266R |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,476,901 (GRCm39) |
K154M |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,839,384 (GRCm39) |
D359G |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,018,296 (GRCm39) |
K53R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,232,772 (GRCm39) |
H168Q |
probably damaging |
Het |
| Lpcat2b |
T |
C |
5: 107,581,759 (GRCm39) |
Y363H |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,225 (GRCm39) |
N290K |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,873 (GRCm39) |
F301L |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,364,195 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,043,374 (GRCm39) |
|
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,550 (GRCm39) |
C179S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,220 (GRCm39) |
V264D |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,237,844 (GRCm39) |
H1374Q |
possibly damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,822,728 (GRCm39) |
A658V |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 137,996,148 (GRCm39) |
E904K |
possibly damaging |
Het |
| Rab11fip4 |
G |
T |
11: 79,582,705 (GRCm39) |
D591Y |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,523 (GRCm39) |
T29A |
probably benign |
Het |
| Rgs19 |
A |
G |
2: 181,331,381 (GRCm39) |
V84A |
possibly damaging |
Het |
| Shisa6 |
T |
G |
11: 66,108,705 (GRCm39) |
M391L |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,469,263 (GRCm39) |
G1254D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,895,059 (GRCm39) |
Y358* |
probably null |
Het |
| Taf3 |
G |
T |
2: 9,957,472 (GRCm39) |
R232S |
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Trav13n-4 |
T |
C |
14: 53,601,473 (GRCm39) |
S81P |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,121,333 (GRCm39) |
P321T |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,039 (GRCm39) |
G309* |
probably null |
Het |
| Vps13d |
C |
A |
4: 144,821,437 (GRCm39) |
G2979V |
possibly damaging |
Het |
|
| Other mutations in Ppp2r2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation