Incidental Mutation 'IGL01662:Ppp2r2c'
| ID |
103198 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp2r2c
|
| Ensembl Gene |
ENSMUSG00000029120 |
| Gene Name |
protein phosphatase 2, regulatory subunit B, gamma |
| Synonyms |
6330548O06Rik, IMYPNO1, PR52 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
IGL01662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
37025857-37112422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37083744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 95
(I95N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031003]
[ENSMUST00000201156]
|
| AlphaFold |
Q8BG02 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031003
AA Change: I95N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031003
Gene: ENSMUSG00000029120
AA Change: I95N
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
1.99e0 |
SMART |
|
WD40
|
79 |
119 |
2.38e1 |
SMART |
|
WD40
|
161 |
200 |
1.11e0 |
SMART |
|
WD40
|
211 |
251 |
5.7e1 |
SMART |
|
WD40
|
270 |
308 |
4.11e1 |
SMART |
|
Blast:WD40
|
312 |
366 |
1e-24 |
BLAST |
|
WD40
|
402 |
439 |
3.07e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201156
|
| SMART Domains |
Protein: ENSMUSP00000144342
Gene: ENSMUSG00000029120
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kb0a2
|
4 |
51 |
3e-3 |
SMART |
|
Blast:WD40
|
13 |
52 |
1e-21 |
BLAST |
|
PDB:3DW8|E
|
21 |
64 |
5e-16 |
PDB |
|
| 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 a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
A |
T |
7: 119,137,511 (GRCm39) |
I402F |
probably damaging |
Het |
| Acvr2b |
T |
C |
9: 119,261,570 (GRCm39) |
Y388H |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,988,512 (GRCm39) |
D162N |
possibly damaging |
Het |
| C6 |
G |
T |
15: 4,822,236 (GRCm39) |
R585I |
probably damaging |
Het |
| Ccdc169 |
T |
A |
3: 55,070,732 (GRCm39) |
|
probably null |
Het |
| Cdh13 |
T |
A |
8: 119,401,916 (GRCm39) |
M106K |
probably damaging |
Het |
| Cep78 |
C |
T |
19: 15,938,359 (GRCm39) |
E530K |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,487 (GRCm39) |
L533Q |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,460 (GRCm39) |
V1181A |
probably benign |
Het |
| Galnt7 |
T |
G |
8: 57,984,769 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,498 (GRCm39) |
R61C |
unknown |
Het |
| Gucy1a1 |
T |
A |
3: 82,016,560 (GRCm39) |
I143F |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,613,050 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,856,020 (GRCm39) |
T741I |
probably benign |
Het |
| Mdc1 |
T |
C |
17: 36,163,397 (GRCm39) |
S982P |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,798,193 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,172 (GRCm39) |
I188L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,862 (GRCm39) |
S554C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,220,957 (GRCm39) |
N1715D |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,605,119 (GRCm39) |
S985T |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,155,866 (GRCm39) |
Q22R |
probably benign |
Het |
| Or52i2 |
T |
C |
7: 102,319,927 (GRCm39) |
W267R |
probably damaging |
Het |
| Otulinl |
C |
T |
15: 27,658,151 (GRCm39) |
D290N |
probably damaging |
Het |
| Pabir1 |
A |
G |
19: 24,453,948 (GRCm39) |
V258A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,322 (GRCm39) |
E815G |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,569,225 (GRCm39) |
E717K |
possibly damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,138 (GRCm39) |
S1051P |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,084 (GRCm39) |
D193G |
probably damaging |
Het |
| Sirpb1b |
G |
T |
3: 15,608,244 (GRCm39) |
T167K |
probably damaging |
Het |
| Slc16a3 |
C |
A |
11: 120,847,532 (GRCm39) |
S240* |
probably null |
Het |
| Snx14 |
T |
A |
9: 88,267,891 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,256,866 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
T |
1: 46,068,522 (GRCm39) |
|
noncoding transcript |
Het |
| Taar7b |
A |
T |
10: 23,875,874 (GRCm39) |
D13V |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,506 (GRCm39) |
E740G |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,115,279 (GRCm39) |
A2054V |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,034 (GRCm39) |
V211A |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,379 (GRCm39) |
H449R |
probably benign |
Het |
|
| Other mutations in Ppp2r2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Ppp2r2c
|
APN |
5 |
37,104,465 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01583:Ppp2r2c
|
APN |
5 |
37,026,166 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL01674:Ppp2r2c
|
APN |
5 |
37,097,570 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02027:Ppp2r2c
|
APN |
5 |
37,109,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03118:Ppp2r2c
|
APN |
5 |
37,083,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Ppp2r2c
|
UTSW |
5 |
37,084,883 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2036:Ppp2r2c
|
UTSW |
5 |
37,109,748 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4877:Ppp2r2c
|
UTSW |
5 |
37,026,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4980:Ppp2r2c
|
UTSW |
5 |
37,109,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5838:Ppp2r2c
|
UTSW |
5 |
37,097,531 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6291:Ppp2r2c
|
UTSW |
5 |
37,097,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6940:Ppp2r2c
|
UTSW |
5 |
37,084,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7405:Ppp2r2c
|
UTSW |
5 |
37,104,486 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7695:Ppp2r2c
|
UTSW |
5 |
37,104,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Ppp2r2c
|
UTSW |
5 |
37,097,450 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8307:Ppp2r2c
|
UTSW |
5 |
37,104,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Ppp2r2c
|
UTSW |
5 |
37,080,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9715:Ppp2r2c
|
UTSW |
5 |
37,097,488 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0013:Ppp2r2c
|
UTSW |
5 |
37,083,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ppp2r2c
|
UTSW |
5 |
37,088,621 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2014-01-21 |
Incidental Mutation