Incidental Mutation 'R6533:Dcp2'
| ID |
520236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcp2
|
| Ensembl Gene |
ENSMUSG00000024472 |
| Gene Name |
decapping mRNA 2 |
| Synonyms |
2410015D23Rik, 5730537H01Rik |
| MMRRC Submission |
044659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R6533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
44513569-44558036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44532731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 82
(D82E)
|
| 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: D82E
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025350
Gene: ENSMUSG00000024472
AA Change: D82E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
C |
T |
2: 173,561,628 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
T |
2: 68,546,662 (GRCm39) |
E115* |
probably null |
Het |
| Abhd16a |
G |
A |
17: 35,317,785 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
T |
A |
14: 31,454,041 (GRCm39) |
I244L |
possibly damaging |
Het |
| Barx2 |
T |
C |
9: 31,824,275 (GRCm39) |
Y38C |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,665,951 (GRCm39) |
E294* |
probably null |
Het |
| Ceacam2 |
C |
G |
7: 25,230,136 (GRCm39) |
V157L |
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,578,725 (GRCm39) |
F334L |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,426 (GRCm39) |
I958T |
unknown |
Het |
| Dnah8 |
T |
C |
17: 30,965,964 (GRCm39) |
L2432S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,342,590 (GRCm39) |
D7582G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,910,195 (GRCm39) |
I1936L |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,909 (GRCm39) |
N396I |
probably damaging |
Het |
| Lonrf2 |
A |
C |
1: 38,852,349 (GRCm39) |
D167E |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,933,663 (GRCm39) |
D1575G |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,769,518 (GRCm39) |
L101P |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,981,245 (GRCm39) |
I703V |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,549,007 (GRCm39) |
A1257V |
probably benign |
Het |
| Nipal4 |
A |
T |
11: 46,041,234 (GRCm39) |
Y320* |
probably null |
Het |
| Obox5 |
A |
T |
7: 15,491,532 (GRCm39) |
Q24L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,454,644 (GRCm39) |
S345P |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,462,469 (GRCm39) |
I79N |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,845,399 (GRCm39) |
I1262N |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,022,697 (GRCm39) |
N291K |
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,440,845 (GRCm39) |
R691H |
possibly damaging |
Het |
| Ppm1m |
T |
C |
9: 106,074,069 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,046,765 (GRCm39) |
D500E |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,965,151 (GRCm39) |
|
probably null |
Het |
| Rnf214 |
A |
G |
9: 45,811,361 (GRCm39) |
S101P |
probably benign |
Het |
| Sdhc |
A |
G |
1: 170,957,396 (GRCm39) |
S162P |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,071,713 (GRCm39) |
T2231I |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,692,683 (GRCm39) |
D578E |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,224,567 (GRCm39) |
E417D |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,280 (GRCm39) |
N7Y |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,676,277 (GRCm39) |
*421R |
probably null |
Het |
| Tigd5 |
A |
G |
15: 75,782,039 (GRCm39) |
I134V |
possibly damaging |
Het |
| Tmem95 |
A |
T |
11: 69,768,843 (GRCm39) |
M1K |
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,024,728 (GRCm39) |
M1134V |
probably damaging |
Het |
| Unc45a |
T |
G |
7: 79,983,817 (GRCm39) |
K326N |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,463 (GRCm39) |
V99A |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,322,519 (GRCm39) |
T67A |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,529 (GRCm39) |
M70K |
probably benign |
Het |
| Zftraf1 |
C |
A |
15: 76,531,930 (GRCm39) |
E283* |
probably null |
Het |
| Zkscan8 |
A |
G |
13: 21,704,748 (GRCm39) |
F325S |
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 |
|
|
R5559:Dcp2
|
UTSW |
18 |
44,538,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAGGCTTGAGTGGATTTCAATG -3'
(R):5'- GCAGGCAAAGCATCCAAAATTTAG -3'
Sequencing Primer
(F):5'- ATGGGTGTCTGTGAGCCACAC -3'
(R):5'- AGGGCATTTTAAAACCACAATTTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation