Incidental Mutation 'R4680:Ppp2r5e'
| ID |
349993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp2r5e
|
| Ensembl Gene |
ENSMUSG00000021051 |
| Gene Name |
protein phosphatase 2, regulatory subunit B', epsilon |
| Synonyms |
B56beta, protein phosphatase 2A subunit beta, 4633401M22Rik |
| MMRRC Submission |
041933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4680 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
75497655-75643019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75516533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 218
(R218Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021447]
[ENSMUST00000218012]
[ENSMUST00000220035]
|
| AlphaFold |
Q61151 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021447
AA Change: R218Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021447
Gene: ENSMUSG00000021051
AA Change: R218Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
41 |
N/A |
INTRINSIC |
|
Pfam:B56
|
48 |
453 |
3.2e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218012
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220035
AA Change: R184Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.9180 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A 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 epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
T |
2: 151,315,390 (GRCm39) |
L96Q |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,822,533 (GRCm39) |
Y368C |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,924,215 (GRCm39) |
N8S |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,408,409 (GRCm39) |
V2432A |
probably benign |
Het |
| Atf2 |
A |
T |
2: 73,659,025 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
G |
11: 22,787,105 (GRCm39) |
S28P |
probably damaging |
Het |
| Chil5 |
A |
G |
3: 105,942,191 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
T |
15: 73,405,225 (GRCm39) |
H326L |
possibly damaging |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,118,475 (GRCm39) |
V461A |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,738,858 (GRCm39) |
Q31* |
probably null |
Het |
| Gpr26 |
A |
G |
7: 131,576,082 (GRCm39) |
T249A |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,386,735 (GRCm39) |
M958L |
probably damaging |
Het |
| Kat2b-ps |
A |
G |
5: 93,539,299 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm2b |
A |
T |
5: 123,072,849 (GRCm39) |
V343E |
probably damaging |
Het |
| Lipi |
A |
G |
16: 75,362,417 (GRCm39) |
|
probably null |
Het |
| Ltb4r1 |
T |
C |
14: 56,004,925 (GRCm39) |
F76S |
probably damaging |
Het |
| Msantd2 |
A |
G |
9: 37,434,387 (GRCm39) |
Y209C |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,647,437 (GRCm39) |
C401Y |
probably damaging |
Het |
| Obox1 |
A |
T |
7: 15,290,089 (GRCm39) |
N144I |
probably damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,813 (GRCm39) |
S119P |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,665 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,517 (GRCm39) |
I105F |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,775 (GRCm39) |
E1630G |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,589,894 (GRCm39) |
T2586A |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,290,840 (GRCm39) |
N633S |
probably benign |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,452 (GRCm39) |
N284S |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Ropn1 |
A |
G |
16: 34,497,675 (GRCm39) |
Q189R |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,950 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,610,119 (GRCm39) |
S4236T |
probably benign |
Het |
| Sigmar1 |
A |
G |
4: 41,741,251 (GRCm39) |
M1T |
probably null |
Het |
| Sncg |
T |
A |
14: 34,095,268 (GRCm39) |
N79I |
probably benign |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,763,021 (GRCm39) |
G3213S |
probably damaging |
Het |
| Uqcrc1 |
G |
A |
9: 108,776,929 (GRCm39) |
R77H |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,835,080 (GRCm39) |
L2756R |
possibly damaging |
Het |
|
| Other mutations in Ppp2r5e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02602:Ppp2r5e
|
APN |
12 |
75,540,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03398:Ppp2r5e
|
APN |
12 |
75,509,179 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03402:Ppp2r5e
|
APN |
12 |
75,511,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0129:Ppp2r5e
|
UTSW |
12 |
75,509,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Ppp2r5e
|
UTSW |
12 |
75,509,216 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Ppp2r5e
|
UTSW |
12 |
75,516,310 (GRCm39) |
splice site |
probably benign |
|
|
R1551:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1614:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Ppp2r5e
|
UTSW |
12 |
75,516,540 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1864:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Ppp2r5e
|
UTSW |
12 |
75,516,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2181:Ppp2r5e
|
UTSW |
12 |
75,509,098 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3084:Ppp2r5e
|
UTSW |
12 |
75,515,390 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4212:Ppp2r5e
|
UTSW |
12 |
75,516,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4213:Ppp2r5e
|
UTSW |
12 |
75,516,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Ppp2r5e
|
UTSW |
12 |
75,640,035 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5147:Ppp2r5e
|
UTSW |
12 |
75,516,544 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5262:Ppp2r5e
|
UTSW |
12 |
75,640,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Ppp2r5e
|
UTSW |
12 |
75,562,459 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5429:Ppp2r5e
|
UTSW |
12 |
75,500,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5439:Ppp2r5e
|
UTSW |
12 |
75,540,250 (GRCm39) |
missense |
probably benign |
|
|
R7225:Ppp2r5e
|
UTSW |
12 |
75,515,353 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7453:Ppp2r5e
|
UTSW |
12 |
75,509,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7558:Ppp2r5e
|
UTSW |
12 |
75,511,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Ppp2r5e
|
UTSW |
12 |
75,511,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8019:Ppp2r5e
|
UTSW |
12 |
75,511,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Ppp2r5e
|
UTSW |
12 |
75,500,570 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8969:Ppp2r5e
|
UTSW |
12 |
75,500,492 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9144:Ppp2r5e
|
UTSW |
12 |
75,506,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9228:Ppp2r5e
|
UTSW |
12 |
75,640,063 (GRCm39) |
nonsense |
probably null |
|
|
R9524:Ppp2r5e
|
UTSW |
12 |
75,509,167 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9572:Ppp2r5e
|
UTSW |
12 |
75,562,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTACACCATTGAAGTGTTCTG -3'
(R):5'- ACTCCTGTGCTGGGTGTAAC -3'
Sequencing Primer
(F):5'- GTTTCATAAACAAACCTGAGAGGAG -3'
(R):5'- GCTGGGTGTAACTTTTATTTAGTAGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation