Incidental Mutation 'IGL01508:Adarb2'
| ID |
89131 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adarb2
|
| Ensembl Gene |
ENSMUSG00000052551 |
| Gene Name |
adenosine deaminase, RNA-specific, B2 |
| Synonyms |
RED2, Adar3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
8252902-8818783 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 8802606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064473]
[ENSMUST00000123187]
[ENSMUST00000135574]
|
| AlphaFold |
Q9JI20 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064473
|
| SMART Domains |
Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
1.03e-16 |
SMART |
|
DSRM
|
284 |
346 |
1.24e-15 |
SMART |
|
ADEAMc
|
366 |
742 |
5.41e-211 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123187
|
| SMART Domains |
Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
6.1e-19 |
SMART |
|
DSRM
|
284 |
346 |
7.3e-18 |
SMART |
|
ADEAMc
|
366 |
698 |
2e-164 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135574
|
| SMART Domains |
Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
1.03e-16 |
SMART |
|
DSRM
|
284 |
346 |
1.24e-15 |
SMART |
|
ADEAMc
|
366 |
742 |
5.41e-211 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,636,326 (GRCm39) |
R732* |
probably null |
Het |
| Alb |
C |
T |
5: 90,618,697 (GRCm39) |
A430V |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,103,427 (GRCm39) |
F397I |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,535 (GRCm39) |
S1518P |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,890,804 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,365 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,666,231 (GRCm39) |
S599G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Fbxo3 |
A |
T |
2: 103,864,021 (GRCm39) |
H92L |
probably benign |
Het |
| Ffar2 |
T |
C |
7: 30,518,601 (GRCm39) |
D313G |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,497,294 (GRCm39) |
E185G |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,078,243 (GRCm39) |
T69I |
possibly damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,230 (GRCm39) |
N272I |
probably damaging |
Het |
| Gin1 |
T |
C |
1: 97,705,162 (GRCm39) |
V84A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,613 (GRCm39) |
L369P |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,743,990 (GRCm39) |
T891I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,116,356 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
T |
C |
2: 181,338,830 (GRCm39) |
T169A |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,309 (GRCm39) |
V1017A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,391,760 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,370 (GRCm39) |
D81G |
probably damaging |
Het |
| Pate4 |
A |
T |
9: 35,519,602 (GRCm39) |
C29* |
probably null |
Het |
| Prkce |
C |
T |
17: 86,937,513 (GRCm39) |
R649C |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,741,303 (GRCm39) |
V14A |
probably benign |
Het |
| Rnf166 |
C |
A |
8: 123,197,081 (GRCm39) |
C57F |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,680 (GRCm39) |
I1426T |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,773,894 (GRCm39) |
Q424* |
probably null |
Het |
| Ttc27 |
T |
A |
17: 75,142,352 (GRCm39) |
S606T |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,759,002 (GRCm39) |
S292P |
possibly damaging |
Het |
| Wdr70 |
A |
G |
15: 8,108,747 (GRCm39) |
V133A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,062,229 (GRCm39) |
F252S |
possibly damaging |
Het |
|
| Other mutations in Adarb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Adarb2
|
APN |
13 |
8,751,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00910:Adarb2
|
APN |
13 |
8,722,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Adarb2
|
APN |
13 |
8,253,329 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01337:Adarb2
|
APN |
13 |
8,620,282 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01792:Adarb2
|
APN |
13 |
8,620,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Adarb2
|
APN |
13 |
8,619,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Adarb2
|
APN |
13 |
8,619,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0304:Adarb2
|
UTSW |
13 |
8,802,606 (GRCm39) |
splice site |
probably benign |
|
|
R0463:Adarb2
|
UTSW |
13 |
8,253,224 (GRCm39) |
start gained |
probably benign |
|
|
R0646:Adarb2
|
UTSW |
13 |
8,781,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Adarb2
|
UTSW |
13 |
8,722,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Adarb2
|
UTSW |
13 |
8,807,359 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1451:Adarb2
|
UTSW |
13 |
8,389,657 (GRCm39) |
intron |
probably benign |
|
|
R1656:Adarb2
|
UTSW |
13 |
8,253,287 (GRCm39) |
missense |
unknown |
|
|
R1939:Adarb2
|
UTSW |
13 |
8,253,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2212:Adarb2
|
UTSW |
13 |
8,802,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Adarb2
|
UTSW |
13 |
8,619,810 (GRCm39) |
nonsense |
probably null |
|
|
R2993:Adarb2
|
UTSW |
13 |
8,763,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3157:Adarb2
|
UTSW |
13 |
8,747,669 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3177:Adarb2
|
UTSW |
13 |
8,802,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Adarb2
|
UTSW |
13 |
8,802,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3412:Adarb2
|
UTSW |
13 |
8,802,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Adarb2
|
UTSW |
13 |
8,620,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4505:Adarb2
|
UTSW |
13 |
8,747,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5232:Adarb2
|
UTSW |
13 |
8,763,676 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5831:Adarb2
|
UTSW |
13 |
8,609,169 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7113:Adarb2
|
UTSW |
13 |
8,781,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7252:Adarb2
|
UTSW |
13 |
8,620,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Adarb2
|
UTSW |
13 |
8,620,288 (GRCm39) |
missense |
probably benign |
|
|
R7346:Adarb2
|
UTSW |
13 |
8,620,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Adarb2
|
UTSW |
13 |
8,807,313 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7724:Adarb2
|
UTSW |
13 |
8,620,292 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7733:Adarb2
|
UTSW |
13 |
8,802,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7749:Adarb2
|
UTSW |
13 |
8,619,775 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8683:Adarb2
|
UTSW |
13 |
8,807,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Adarb2
|
UTSW |
13 |
8,802,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8981:Adarb2
|
UTSW |
13 |
8,751,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Adarb2
|
UTSW |
13 |
8,807,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Adarb2
|
UTSW |
13 |
8,619,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adarb2
|
UTSW |
13 |
8,620,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-12-03 |
Incidental Mutation