Incidental Mutation 'IGL02173:Adarb1'
| ID |
282974 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adarb1
|
| Ensembl Gene |
ENSMUSG00000020262 |
| Gene Name |
adenosine deaminase, RNA-specific, B1 |
| Synonyms |
1700057H01Rik, RED1, D10Bwg0447e, ADAR2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77126560-77254104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 77157659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 263
(F263V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020496]
[ENSMUST00000098374]
[ENSMUST00000105404]
[ENSMUST00000105406]
[ENSMUST00000126073]
[ENSMUST00000144547]
|
| AlphaFold |
Q91ZS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020496
AA Change: F263V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: F263V
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
79 |
143 |
1.9e-22 |
SMART |
|
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
DSRM
|
236 |
297 |
5.8e-21 |
SMART |
|
ADEAMc
|
322 |
698 |
2.1e-196 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098374
AA Change: F263V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: F263V
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
79 |
143 |
3.31e-20 |
SMART |
|
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
DSRM
|
236 |
297 |
9.87e-19 |
SMART |
|
ADEAMc
|
322 |
708 |
1.32e-191 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105404
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105406
AA Change: F263V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: F263V
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
79 |
143 |
3.31e-20 |
SMART |
|
low complexity region
|
192 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
DSRM
|
236 |
297 |
9.87e-19 |
SMART |
|
ADEAMc
|
322 |
708 |
1.32e-191 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126073
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150512
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a double-stranded-RNA-specific adenosine deaminase that is involved in editing pre-mRNAs by site-specific conversion of adenosine (A) to inosine (I). Substrates for this enzyme include ionotropic glutamate receptors (GluR2-6) and serotonin receptor (5HT2C). Studies in rodents have shown that this protein can modify its own pre-mRNA by A->I editing to create a novel acceptor splice site, alternative splicing to which results in down regulation of its protein expression. Additional splicing events result in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in progressive seizure susceptibility and death within 20 days of age. Mice homozygous for a conditional allele activated in neurons exhibit motor neuron degeneration, motor function abnormalities, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,061,754 (GRCm39) |
H68L |
possibly damaging |
Het |
| 4930533K18Rik |
A |
G |
10: 70,708,060 (GRCm39) |
|
noncoding transcript |
Het |
| 4933409G03Rik |
A |
G |
2: 68,443,401 (GRCm39) |
T182A |
unknown |
Het |
| Abca2 |
T |
A |
2: 25,331,909 (GRCm39) |
D1340E |
probably benign |
Het |
| Abcc12 |
G |
A |
8: 87,293,071 (GRCm39) |
A39V |
probably damaging |
Het |
| Acap2 |
T |
C |
16: 30,926,965 (GRCm39) |
R510G |
possibly damaging |
Het |
| Ace |
G |
T |
11: 105,879,817 (GRCm39) |
R719L |
probably benign |
Het |
| Ahcyl |
T |
C |
16: 45,974,441 (GRCm39) |
N312S |
probably benign |
Het |
| Ambra1 |
T |
C |
2: 91,748,013 (GRCm39) |
S1130P |
probably benign |
Het |
| Aqp7 |
A |
T |
4: 41,034,379 (GRCm39) |
L260* |
probably null |
Het |
| Cntn5 |
G |
T |
9: 9,748,401 (GRCm39) |
S493R |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,080,165 (GRCm39) |
F138S |
probably damaging |
Het |
| D2hgdh |
T |
A |
1: 93,757,611 (GRCm39) |
D175E |
probably benign |
Het |
| Dtx4 |
G |
T |
19: 12,450,621 (GRCm39) |
Y530* |
probably null |
Het |
| Elp4 |
T |
A |
2: 105,533,088 (GRCm39) |
H419L |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,225,690 (GRCm39) |
D218G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,258 (GRCm39) |
|
probably benign |
Het |
| Fyb1 |
C |
T |
15: 6,610,176 (GRCm39) |
P250S |
probably benign |
Het |
| Gaa |
A |
G |
11: 119,165,739 (GRCm39) |
Y84C |
probably damaging |
Het |
| Galns |
A |
T |
8: 123,325,365 (GRCm39) |
S262R |
probably damaging |
Het |
| Gfus |
A |
G |
15: 75,798,034 (GRCm39) |
S233P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,663,906 (GRCm39) |
I345T |
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,934,717 (GRCm39) |
V671A |
probably damaging |
Het |
| Maml3 |
C |
A |
3: 51,598,208 (GRCm39) |
L179F |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,826,318 (GRCm39) |
L1089P |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,357,743 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,778,949 (GRCm39) |
M83T |
possibly damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,037 (GRCm39) |
P291S |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,691 (GRCm39) |
V240A |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,378 (GRCm39) |
T74A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,926,165 (GRCm39) |
|
probably benign |
Het |
| Pcbd1 |
A |
G |
10: 60,927,983 (GRCm39) |
|
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,264,248 (GRCm39) |
V164A |
possibly damaging |
Het |
| Pgd |
A |
G |
4: 149,241,210 (GRCm39) |
I233T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,147,330 (GRCm39) |
H733L |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,574,206 (GRCm39) |
N205K |
probably benign |
Het |
| Sstr2 |
G |
T |
11: 113,515,842 (GRCm39) |
V254L |
probably damaging |
Het |
| Tm9sf2 |
G |
T |
14: 122,380,835 (GRCm39) |
V308F |
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,501,776 (GRCm39) |
K34E |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,164,381 (GRCm39) |
|
probably null |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,117 (GRCm39) |
S167P |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,759 (GRCm39) |
I413N |
probably damaging |
Het |
|
| Other mutations in Adarb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00736:Adarb1
|
APN |
10 |
77,158,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01996:Adarb1
|
APN |
10 |
77,158,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Adarb1
|
APN |
10 |
77,158,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02399:Adarb1
|
APN |
10 |
77,131,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02699:Adarb1
|
APN |
10 |
77,157,853 (GRCm39) |
missense |
probably benign |
|
|
IGL02867:Adarb1
|
APN |
10 |
77,149,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02889:Adarb1
|
APN |
10 |
77,149,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03133:Adarb1
|
APN |
10 |
77,161,730 (GRCm39) |
start gained |
probably benign |
|
|
R1806:Adarb1
|
UTSW |
10 |
77,158,099 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1834:Adarb1
|
UTSW |
10 |
77,153,065 (GRCm39) |
splice site |
probably benign |
|
|
R2174:Adarb1
|
UTSW |
10 |
77,131,632 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2233:Adarb1
|
UTSW |
10 |
77,153,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Adarb1
|
UTSW |
10 |
77,153,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Adarb1
|
UTSW |
10 |
77,149,237 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3106:Adarb1
|
UTSW |
10 |
77,157,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Adarb1
|
UTSW |
10 |
77,158,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Adarb1
|
UTSW |
10 |
77,161,679 (GRCm39) |
intron |
probably benign |
|
|
R5497:Adarb1
|
UTSW |
10 |
77,161,723 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5869:Adarb1
|
UTSW |
10 |
77,161,450 (GRCm39) |
intron |
probably benign |
|
|
R6168:Adarb1
|
UTSW |
10 |
77,158,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7372:Adarb1
|
UTSW |
10 |
77,131,712 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7575:Adarb1
|
UTSW |
10 |
77,139,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7885:Adarb1
|
UTSW |
10 |
77,131,542 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9227:Adarb1
|
UTSW |
10 |
77,157,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Adarb1
|
UTSW |
10 |
77,157,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Adarb1
|
UTSW |
10 |
77,158,267 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9457:Adarb1
|
UTSW |
10 |
77,157,982 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9688:Adarb1
|
UTSW |
10 |
77,147,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Adarb1
|
UTSW |
10 |
77,131,539 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2015-04-16 |
Incidental Mutation