Incidental Mutation 'R5559:Dcp2'
ID |
436482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcp2
|
Ensembl Gene |
ENSMUSG00000024472 |
Gene Name |
decapping mRNA 2 |
Synonyms |
2410015D23Rik, 5730537H01Rik |
MMRRC Submission |
043116-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R5559 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
44513569-44558036 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44538554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 206
(P206T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025350]
|
AlphaFold |
Q9CYC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025350
AA Change: P206T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025350 Gene: ENSMUSG00000024472 AA Change: P206T
Domain | Start | End | E-Value | Type |
DCP2
|
10 |
94 |
4.23e-50 |
SMART |
Pfam:NUDIX
|
97 |
219 |
6.5e-17 |
PFAM |
low complexity region
|
240 |
258 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5' end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011] PHENOTYPE: Mice homozygous for a gene trapped allele are viable and fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
probably damaging |
Het |
|
Other mutations in Dcp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02801:Dcp2
|
APN |
18 |
44,550,778 (GRCm39) |
missense |
probably damaging |
1.00 |
belay
|
UTSW |
18 |
44,529,019 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4431001:Dcp2
|
UTSW |
18 |
44,545,638 (GRCm39) |
missense |
probably benign |
0.15 |
R0051:Dcp2
|
UTSW |
18 |
44,538,441 (GRCm39) |
splice site |
probably benign |
|
R0515:Dcp2
|
UTSW |
18 |
44,532,798 (GRCm39) |
missense |
probably benign |
0.41 |
R0761:Dcp2
|
UTSW |
18 |
44,543,300 (GRCm39) |
missense |
probably benign |
0.01 |
R1696:Dcp2
|
UTSW |
18 |
44,533,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R1803:Dcp2
|
UTSW |
18 |
44,528,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Dcp2
|
UTSW |
18 |
44,538,638 (GRCm39) |
critical splice donor site |
probably null |
|
R1964:Dcp2
|
UTSW |
18 |
44,529,038 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2014:Dcp2
|
UTSW |
18 |
44,543,363 (GRCm39) |
missense |
probably benign |
0.00 |
R2209:Dcp2
|
UTSW |
18 |
44,538,581 (GRCm39) |
nonsense |
probably null |
|
R4167:Dcp2
|
UTSW |
18 |
44,529,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Dcp2
|
UTSW |
18 |
44,548,429 (GRCm39) |
splice site |
probably null |
|
R4877:Dcp2
|
UTSW |
18 |
44,550,659 (GRCm39) |
missense |
probably benign |
0.11 |
R5147:Dcp2
|
UTSW |
18 |
44,550,662 (GRCm39) |
nonsense |
probably null |
|
R6533:Dcp2
|
UTSW |
18 |
44,532,731 (GRCm39) |
missense |
probably benign |
0.25 |
R7406:Dcp2
|
UTSW |
18 |
44,543,254 (GRCm39) |
missense |
probably benign |
0.00 |
R7469:Dcp2
|
UTSW |
18 |
44,529,019 (GRCm39) |
missense |
probably damaging |
0.99 |
R7850:Dcp2
|
UTSW |
18 |
44,533,415 (GRCm39) |
nonsense |
probably null |
|
R8054:Dcp2
|
UTSW |
18 |
44,538,774 (GRCm39) |
missense |
probably benign |
0.02 |
R8315:Dcp2
|
UTSW |
18 |
44,529,071 (GRCm39) |
missense |
probably benign |
0.01 |
R9422:Dcp2
|
UTSW |
18 |
44,538,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9423:Dcp2
|
UTSW |
18 |
44,538,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9424:Dcp2
|
UTSW |
18 |
44,538,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9425:Dcp2
|
UTSW |
18 |
44,538,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATTCCAGGAGTCCCAAAAG -3'
(R):5'- TCACTGTCCGAGGAATCTCC -3'
Sequencing Primer
(F):5'- GAGTCCCAAAAGACACAAAATTTAAC -3'
(R):5'- GTCCGAGGAATCTCCAAATCTTCG -3'
|
Posted On |
2016-10-24 |