Incidental Mutation 'R7967:Ppp2r2c'
| ID |
650414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r2c
|
| Ensembl Gene |
ENSMUSG00000029120 |
| Gene Name |
protein phosphatase 2, regulatory subunit B, gamma |
| Synonyms |
6330548O06Rik, IMYPNO1, PR52 |
| MMRRC Submission |
046010-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.537)
|
| Stock # |
R7967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37025857-37112422 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37097450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 212
(D212G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031003]
|
| AlphaFold |
Q8BG02 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031003
AA Change: D212G
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031003
Gene: ENSMUSG00000029120
AA Change: D212G
| 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 |
|
| Meta Mutation Damage Score |
0.9033 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,932,169 (GRCm39) |
H228R |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atp11b |
C |
A |
3: 35,895,192 (GRCm39) |
T910K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,856,999 (GRCm39) |
L320Q |
probably damaging |
Het |
| C530025M09Rik |
G |
A |
2: 149,672,974 (GRCm39) |
R54C |
unknown |
Het |
| Cfap251 |
G |
A |
5: 123,421,579 (GRCm39) |
R644H |
possibly damaging |
Het |
| Cilp |
A |
T |
9: 65,185,494 (GRCm39) |
I530F |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,857,256 (GRCm39) |
V302A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,798,604 (GRCm39) |
K497E |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
| Fabp3 |
A |
T |
4: 130,207,781 (GRCm39) |
H94L |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,501,811 (GRCm39) |
K606* |
probably null |
Het |
| Grm5 |
A |
G |
7: 87,624,569 (GRCm39) |
T379A |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,552,332 (GRCm39) |
Y89F |
probably damaging |
Het |
| Hoxd8 |
T |
C |
2: 74,536,378 (GRCm39) |
S163P |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,614,370 (GRCm39) |
I440N |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,085,461 (GRCm39) |
D2236G |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl31 |
G |
A |
9: 77,557,430 (GRCm39) |
E49K |
probably damaging |
Het |
| Mmp10 |
A |
G |
9: 7,504,116 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mtus2 |
A |
T |
5: 148,014,656 (GRCm39) |
E483V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,456,119 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
C |
T |
2: 87,663,863 (GRCm39) |
P160L |
possibly damaging |
Het |
| Orc3 |
A |
T |
4: 34,598,645 (GRCm39) |
M187K |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,902 (GRCm39) |
N378S |
probably damaging |
Het |
| Pgm2l1 |
A |
C |
7: 99,910,854 (GRCm39) |
H266P |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,102,264 (GRCm39) |
D59E |
probably benign |
Het |
| Prorp |
G |
A |
12: 55,350,979 (GRCm39) |
G96D |
probably benign |
Het |
| Rccd1 |
G |
A |
7: 79,968,657 (GRCm39) |
S301L |
possibly damaging |
Het |
| Shbg |
T |
A |
11: 69,505,813 (GRCm39) |
D398V |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tecta |
G |
A |
9: 42,289,251 (GRCm39) |
T438M |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,756,023 (GRCm39) |
I89F |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ugt2b36 |
C |
A |
5: 87,214,236 (GRCm39) |
M469I |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,160,830 (GRCm39) |
V445A |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 127,016,453 (GRCm39) |
C745R |
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 |
|
IGL01662:Ppp2r2c
|
APN |
5 |
37,083,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGTGAATCTGGCTGGG -3'
(R):5'- TGCATGTGCCACAGTAGTG -3'
Sequencing Primer
(F):5'- GGGGACTAGGGACTGGG -3'
(R):5'- ATGTGCCACAGTAGTGCACCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation