Incidental Mutation 'R4167:Dcp2'
| ID |
320640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcp2
|
| Ensembl Gene |
ENSMUSG00000024472 |
| Gene Name |
decapping mRNA 2 |
| Synonyms |
2410015D23Rik, 5730537H01Rik |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44513569-44558036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44529034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 50
(Y50N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025350]
[ENSMUST00000202306]
|
| AlphaFold |
Q9CYC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025350
AA Change: Y50N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025350
Gene: ENSMUSG00000024472
AA Change: Y50N
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202306
AA Change: Y50N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144010
Gene: ENSMUSG00000024472
AA Change: Y50N
| Domain | Start | End | E-Value | Type |
|---|
|
DCP2
|
10 |
82 |
5.7e-28 |
SMART |
|
| Meta Mutation Damage Score |
0.1997 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
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 |
|
|
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 |
|
|
R5559:Dcp2
|
UTSW |
18 |
44,538,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCTCGCCTTTCCTAGTTGG -3'
(R):5'- CACTTCAGTGCCGCGAAAA -3'
Sequencing Primer
(F):5'- CCTTTCCTAGTTGGTGGGTG -3'
(R):5'- AGCGAAACTGCCTCACGTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation