Incidental Mutation 'R2234:Adarb1'
ID |
239935 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adarb1
|
Ensembl Gene |
ENSMUSG00000020262 |
Gene Name |
adenosine deaminase, RNA-specific, B1 |
Synonyms |
1700057H01Rik, RED1, D10Bwg0447e, ADAR2 |
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 |
77126560-77254104 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77153183 bp (GRCm39)
|
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: ENSMUST00000154607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149738
|
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: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,557,777 (GRCm39) |
G37R |
probably damaging |
Het |
BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
Cd81 |
T |
A |
7: 142,620,056 (GRCm39) |
N71K |
probably benign |
Het |
Cemip |
G |
T |
7: 83,647,770 (GRCm39) |
D103E |
probably benign |
Het |
Chfr |
A |
G |
5: 110,318,729 (GRCm39) |
K580E |
probably damaging |
Het |
Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
Cpb1 |
A |
T |
3: 20,329,629 (GRCm39) |
D32E |
probably benign |
Het |
Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
Eml5 |
A |
C |
12: 98,807,840 (GRCm39) |
D984E |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
Hspa2 |
A |
G |
12: 76,451,419 (GRCm39) |
T38A |
possibly damaging |
Het |
Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
Kalrn |
C |
A |
16: 33,996,632 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,763,129 (GRCm39) |
D240G |
probably damaging |
Het |
Lrrc56 |
T |
A |
7: 140,778,207 (GRCm39) |
D66E |
probably damaging |
Het |
Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or2d4 |
C |
A |
7: 106,543,827 (GRCm39) |
C127F |
probably damaging |
Het |
Or4c114 |
A |
G |
2: 88,904,592 (GRCm39) |
L281P |
probably damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
Or7g19 |
A |
T |
9: 18,856,112 (GRCm39) |
H56L |
probably damaging |
Het |
Or8k39 |
A |
G |
2: 86,563,921 (GRCm39) |
F12L |
possibly damaging |
Het |
Pax8 |
A |
G |
2: 24,333,114 (GRCm39) |
I77T |
probably damaging |
Het |
Paxbp1 |
T |
C |
16: 90,831,822 (GRCm39) |
I355M |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
Plec |
A |
T |
15: 76,061,147 (GRCm39) |
I2952N |
probably damaging |
Het |
Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
Ssc5d |
A |
G |
7: 4,946,849 (GRCm39) |
T1068A |
probably benign |
Het |
Stambp |
A |
G |
6: 83,528,960 (GRCm39) |
S362P |
probably damaging |
Het |
Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
Uck1 |
T |
C |
2: 32,148,315 (GRCm39) |
D167G |
probably damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
Xpnpep1 |
T |
G |
19: 53,001,892 (GRCm39) |
D118A |
probably damaging |
Het |
Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
possibly 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 |
IGL02173:Adarb1
|
APN |
10 |
77,157,659 (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 |
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 |
|
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 |