Incidental Mutation 'R2234:Adarb1'
| ID |
239935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adarb1
|
| Ensembl Gene |
ENSMUSG00000020262 |
| Gene Name |
adenosine deaminase, RNA-specific, B1 |
| Synonyms |
RED1, D10Bwg0447e, ADAR2, 1700057H01Rik |
| MMRRC Submission |
040235-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77290726-77418270 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77317349 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 322
(V322A)
|
| 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: V322A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: V322A
| 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: V322A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: V322A
| 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: V322A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: V322A
| 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: ENSMUST00000149738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154607
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,558,708 (GRCm38) |
D24G |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,338,803 (GRCm38) |
G37R |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,497,962 (GRCm38) |
D644E |
probably damaging |
Het |
| Capzb |
T |
A |
4: 139,262,023 (GRCm38) |
D85E |
possibly damaging |
Het |
| Ccdc129 |
A |
T |
6: 55,897,812 (GRCm38) |
H249L |
possibly damaging |
Het |
| Cd81 |
T |
A |
7: 143,066,319 (GRCm38) |
N71K |
probably benign |
Het |
| Cemip |
G |
T |
7: 83,998,562 (GRCm38) |
D103E |
probably benign |
Het |
| Chfr |
A |
G |
5: 110,170,863 (GRCm38) |
K580E |
probably damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,795,602 (GRCm38) |
I64N |
probably damaging |
Het |
| Clca1 |
G |
T |
3: 145,009,068 (GRCm38) |
P596Q |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,275,465 (GRCm38) |
D32E |
probably benign |
Het |
| Crh |
A |
T |
3: 19,693,932 (GRCm38) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 36,125,075 (GRCm38) |
V23I |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,277,599 (GRCm38) |
K110E |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 35,887,886 (GRCm38) |
C737R |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,249,420 (GRCm38) |
Q419* |
probably null |
Het |
| Eml5 |
A |
C |
12: 98,841,581 (GRCm38) |
D984E |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,998,271 (GRCm38) |
S2145F |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,724,029 (GRCm38) |
R499Q |
probably damaging |
Het |
| Hid1 |
A |
G |
11: 115,351,119 (GRCm38) |
I555T |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,404,645 (GRCm38) |
T38A |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 68,212,080 (GRCm38) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,480,638 (GRCm38) |
E34G |
probably damaging |
Het |
| Kalrn |
C |
A |
16: 34,176,262 (GRCm38) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,865,248 (GRCm38) |
D240G |
probably damaging |
Het |
| Lrrc56 |
T |
A |
7: 141,198,294 (GRCm38) |
D66E |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,354,272 (GRCm38) |
D392G |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 104,037,376 (GRCm38) |
R1052H |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,131,646 (GRCm38) |
R758G |
possibly damaging |
Het |
| Olfr1089 |
A |
G |
2: 86,733,577 (GRCm38) |
F12L |
possibly damaging |
Het |
| Olfr1219 |
A |
G |
2: 89,074,248 (GRCm38) |
L281P |
probably damaging |
Het |
| Olfr1346 |
T |
C |
7: 6,474,442 (GRCm38) |
S111P |
possibly damaging |
Het |
| Olfr710 |
C |
A |
7: 106,944,620 (GRCm38) |
C127F |
probably damaging |
Het |
| Olfr832 |
A |
T |
9: 18,944,816 (GRCm38) |
H56L |
probably damaging |
Het |
| Pax8 |
A |
G |
2: 24,443,102 (GRCm38) |
I77T |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 91,034,934 (GRCm38) |
I355M |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,654,098 (GRCm38) |
F331I |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,176,947 (GRCm38) |
I2952N |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,198,919 (GRCm38) |
I108M |
possibly damaging |
Het |
| Rabepk |
A |
T |
2: 34,795,234 (GRCm38) |
I58N |
possibly damaging |
Het |
| Rnf216 |
G |
A |
5: 143,090,926 (GRCm38) |
H68Y |
probably benign |
Het |
| Scap |
T |
C |
9: 110,381,593 (GRCm38) |
C998R |
probably damaging |
Het |
| Scgb1b27 |
T |
C |
7: 34,021,824 (GRCm38) |
Y46H |
probably damaging |
Het |
| Sf3a2 |
G |
T |
10: 80,802,829 (GRCm38) |
A95S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,868,313 (GRCm38) |
Y40N |
probably damaging |
Het |
| Ssc5d |
A |
G |
7: 4,943,850 (GRCm38) |
T1068A |
probably benign |
Het |
| Stambp |
A |
G |
6: 83,551,978 (GRCm38) |
S362P |
probably damaging |
Het |
| Tbx18 |
G |
T |
9: 87,724,350 (GRCm38) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,276,169 (GRCm38) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,725,212 (GRCm38) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,282,086 (GRCm38) |
T40K |
probably benign |
Het |
| Tnk1 |
C |
T |
11: 69,855,191 (GRCm38) |
|
probably null |
Het |
| Trim65 |
G |
T |
11: 116,130,677 (GRCm38) |
T110K |
possibly damaging |
Het |
| Uck1 |
T |
C |
2: 32,258,303 (GRCm38) |
D167G |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,049,665 (GRCm38) |
H61L |
possibly damaging |
Het |
| Xpnpep1 |
T |
G |
19: 53,013,461 (GRCm38) |
D118A |
probably damaging |
Het |
| Xylt2 |
C |
T |
11: 94,669,996 (GRCm38) |
V239M |
possibly damaging |
Het |
|
| Other mutations in Adarb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00736:Adarb1
|
APN |
10 |
77,322,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01996:Adarb1
|
APN |
10 |
77,322,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02173:Adarb1
|
APN |
10 |
77,321,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02214:Adarb1
|
APN |
10 |
77,322,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02399:Adarb1
|
APN |
10 |
77,295,754 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02699:Adarb1
|
APN |
10 |
77,322,019 (GRCm38) |
missense |
probably benign |
|
|
IGL02867:Adarb1
|
APN |
10 |
77,313,541 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02889:Adarb1
|
APN |
10 |
77,313,541 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03133:Adarb1
|
APN |
10 |
77,325,896 (GRCm38) |
start gained |
probably benign |
|
|
R1806:Adarb1
|
UTSW |
10 |
77,322,265 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1834:Adarb1
|
UTSW |
10 |
77,317,231 (GRCm38) |
splice site |
probably benign |
|
|
R2174:Adarb1
|
UTSW |
10 |
77,295,798 (GRCm38) |
missense |
probably benign |
0.35 |
|
R2233:Adarb1
|
UTSW |
10 |
77,317,349 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2908:Adarb1
|
UTSW |
10 |
77,313,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3106:Adarb1
|
UTSW |
10 |
77,321,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5104:Adarb1
|
UTSW |
10 |
77,322,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5134:Adarb1
|
UTSW |
10 |
77,325,845 (GRCm38) |
intron |
probably benign |
|
|
R5497:Adarb1
|
UTSW |
10 |
77,325,889 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5869:Adarb1
|
UTSW |
10 |
77,325,616 (GRCm38) |
intron |
probably benign |
|
|
R6168:Adarb1
|
UTSW |
10 |
77,322,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7372:Adarb1
|
UTSW |
10 |
77,295,878 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7575:Adarb1
|
UTSW |
10 |
77,303,295 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7885:Adarb1
|
UTSW |
10 |
77,295,708 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9227:Adarb1
|
UTSW |
10 |
77,321,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9230:Adarb1
|
UTSW |
10 |
77,321,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9350:Adarb1
|
UTSW |
10 |
77,322,433 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9457:Adarb1
|
UTSW |
10 |
77,322,148 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9688:Adarb1
|
UTSW |
10 |
77,311,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9716:Adarb1
|
UTSW |
10 |
77,295,705 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGTCTCAAACCAGAAAGC -3'
(R):5'- TGGCTAGATATACCCACTGATGAC -3'
Sequencing Primer
(F):5'- CAGACAGATTGAACAATGTGAACAAC -3'
(R):5'- CTAGATATACCCACTGATGACTTTTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation