Incidental Mutation 'R0045:Dram2'
| ID |
18548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dram2
|
| Ensembl Gene |
ENSMUSG00000027900 |
| Gene Name |
DNA-damage regulated autophagy modulator 2 |
| Synonyms |
2610318G18Rik, Tmem77, 2010305N14Rik |
| MMRRC Submission |
038339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106455114-106482657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106478133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 155
(V155A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029507]
[ENSMUST00000067630]
[ENSMUST00000121034]
[ENSMUST00000132923]
[ENSMUST00000151465]
|
| AlphaFold |
Q9CR48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029507
|
| SMART Domains |
Protein: ENSMUSP00000029507
Gene: ENSMUSG00000027900
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
120 |
2.6e-30 |
PFAM |
|
transmembrane domain
|
121 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067630
AA Change: V155A
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063510
Gene: ENSMUSG00000027900
AA Change: V155A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
233 |
1.3e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121034
AA Change: V155A
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112680
Gene: ENSMUSG00000027900
AA Change: V155A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
233 |
7.5e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129053
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132923
AA Change: V155A
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118686
Gene: ENSMUSG00000027900
AA Change: V155A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
165 |
3.1e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151465
|
| SMART Domains |
Protein: ENSMUSP00000117078
Gene: ENSMUSG00000027900
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
144 |
1.5e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197233
|
| Meta Mutation Damage Score |
0.0679 |
| Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
| Validation Efficiency |
92% (56/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
| Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
| Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
| Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
|
| Other mutations in Dram2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01316:Dram2
|
APN |
3 |
106,478,950 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01316:Dram2
|
APN |
3 |
106,480,296 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01519:Dram2
|
APN |
3 |
106,478,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01783:Dram2
|
APN |
3 |
106,480,972 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02141:Dram2
|
APN |
3 |
106,479,012 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03153:Dram2
|
APN |
3 |
106,462,490 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03047:Dram2
|
UTSW |
3 |
106,480,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Dram2
|
UTSW |
3 |
106,478,133 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0400:Dram2
|
UTSW |
3 |
106,480,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Dram2
|
UTSW |
3 |
106,478,082 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2130:Dram2
|
UTSW |
3 |
106,478,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4361:Dram2
|
UTSW |
3 |
106,473,531 (GRCm39) |
intron |
probably benign |
|
|
R4771:Dram2
|
UTSW |
3 |
106,480,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Dram2
|
UTSW |
3 |
106,478,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Dram2
|
UTSW |
3 |
106,480,294 (GRCm39) |
nonsense |
probably null |
|
|
R7441:Dram2
|
UTSW |
3 |
106,462,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Dram2
|
UTSW |
3 |
106,480,999 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation