Incidental Mutation 'R0515:Dcp2'
ID |
48202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcp2
|
Ensembl Gene |
ENSMUSG00000024472 |
Gene Name |
decapping mRNA 2 |
Synonyms |
2410015D23Rik, 5730537H01Rik |
MMRRC Submission |
038709-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R0515 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
44513569-44558036 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44532798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 105
(L105F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025350]
[ENSMUST00000202306]
|
AlphaFold |
Q9CYC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025350
AA Change: L105F
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025350 Gene: ENSMUSG00000024472 AA Change: L105F
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 benign
Transcript: ENSMUST00000202306
|
SMART Domains |
Protein: ENSMUSP00000144010 Gene: ENSMUSG00000024472
Domain | Start | End | E-Value | Type |
DCP2
|
10 |
82 |
5.7e-28 |
SMART |
|
Meta Mutation Damage Score |
0.4526 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
98% (40/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
App |
C |
T |
16: 84,900,232 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
G |
A |
2: 113,667,816 (GRCm39) |
T395I |
possibly damaging |
Het |
Arhgef38 |
T |
G |
3: 132,855,301 (GRCm39) |
H262P |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,884,268 (GRCm39) |
|
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,477,599 (GRCm39) |
S2P |
probably damaging |
Het |
Cltc |
A |
G |
11: 86,599,865 (GRCm39) |
S948P |
probably benign |
Het |
Cyp3a41a |
A |
T |
5: 145,654,810 (GRCm39) |
H30Q |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,731,703 (GRCm39) |
V887A |
possibly damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,582,408 (GRCm39) |
V515A |
probably damaging |
Het |
Gm11360 |
T |
A |
13: 28,140,143 (GRCm39) |
D2E |
probably damaging |
Het |
Gpank1 |
G |
T |
17: 35,342,475 (GRCm39) |
A149S |
probably damaging |
Het |
Gtf2i |
C |
A |
5: 134,271,773 (GRCm39) |
S792I |
probably damaging |
Het |
Hvcn1 |
A |
G |
5: 122,371,582 (GRCm39) |
N41D |
probably damaging |
Het |
Klk1b5 |
A |
G |
7: 43,867,957 (GRCm39) |
Y43C |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,809 (GRCm39) |
D843G |
possibly damaging |
Het |
Lrriq1 |
A |
T |
10: 102,904,829 (GRCm39) |
|
probably null |
Het |
Mapk8ip1 |
A |
T |
2: 92,217,701 (GRCm39) |
I198N |
possibly damaging |
Het |
Mill1 |
T |
C |
7: 17,998,798 (GRCm39) |
V336A |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,861 (GRCm39) |
M1001L |
probably benign |
Het |
Nfe2 |
T |
A |
15: 103,157,854 (GRCm39) |
T46S |
probably null |
Het |
Or8b40 |
T |
C |
9: 38,027,313 (GRCm39) |
S74P |
probably damaging |
Het |
Or9q1 |
T |
C |
19: 13,805,185 (GRCm39) |
S192G |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,851,124 (GRCm39) |
V709A |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,270,098 (GRCm39) |
Q1261L |
probably damaging |
Het |
Prl8a8 |
T |
A |
13: 27,692,350 (GRCm39) |
I214L |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,005,055 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
T |
C |
6: 141,615,136 (GRCm39) |
F347S |
possibly damaging |
Het |
Sox13 |
A |
T |
1: 133,311,457 (GRCm39) |
Y592N |
probably damaging |
Het |
Synj1 |
C |
T |
16: 90,790,910 (GRCm39) |
A84T |
possibly damaging |
Het |
Tent5b |
A |
T |
4: 133,213,450 (GRCm39) |
H107L |
possibly damaging |
Het |
Trpv5 |
T |
A |
6: 41,651,145 (GRCm39) |
|
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,034,090 (GRCm39) |
V106A |
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 |
|
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 |
|
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'- CGGGAGTCTAGCACTGATGATCCTTA -3'
(R):5'- ATGCAGGCAAAGCATCCAAAATTTAGTT -3'
Sequencing Primer
(F):5'- cacagtgtcactccagcc -3'
(R):5'- TCGGCCATCACATCACTAGA -3'
|
Posted On |
2013-06-12 |