Incidental Mutation 'R3106:Adarb1'
ID |
263067 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adarb1
|
Ensembl Gene |
ENSMUSG00000020262 |
Gene Name |
adenosine deaminase, RNA-specific, B1 |
Synonyms |
1700057H01Rik, RED1, D10Bwg0447e, ADAR2 |
MMRRC Submission |
040580-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3106 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
77126560-77254104 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 77157591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 285
(K285N)
|
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: K285N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020496 Gene: ENSMUSG00000020262 AA Change: K285N
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: K285N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095976 Gene: ENSMUSG00000020262 AA Change: K285N
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: K285N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101046 Gene: ENSMUSG00000020262 AA Change: K285N
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150512
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155117
|
Meta Mutation Damage Score |
0.8586 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
T |
7: 119,995,856 (GRCm39) |
E1331V |
possibly damaging |
Het |
Adam22 |
A |
G |
5: 8,167,583 (GRCm39) |
|
probably null |
Het |
Adamts17 |
T |
A |
7: 66,774,820 (GRCm39) |
S980T |
probably damaging |
Het |
Atp5f1c |
A |
G |
2: 10,068,276 (GRCm39) |
S160P |
probably benign |
Het |
Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
Btf3 |
T |
G |
13: 98,447,496 (GRCm39) |
E145D |
probably benign |
Het |
Ccdc184 |
G |
T |
15: 98,066,482 (GRCm39) |
A96S |
probably damaging |
Het |
Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,481,248 (GRCm39) |
Y332H |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,551,918 (GRCm39) |
K68R |
probably benign |
Het |
Cntln |
C |
T |
4: 84,875,406 (GRCm39) |
T280M |
possibly damaging |
Het |
Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
Ctnnal1 |
G |
A |
4: 56,813,246 (GRCm39) |
L662F |
probably benign |
Het |
Dennd3 |
C |
A |
15: 73,436,973 (GRCm39) |
S118* |
probably null |
Het |
Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
Dzip1l |
A |
T |
9: 99,524,625 (GRCm39) |
K249* |
probably null |
Het |
Dzip1l |
A |
G |
9: 99,529,174 (GRCm39) |
E301G |
probably benign |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Ezh1 |
A |
C |
11: 101,086,468 (GRCm39) |
C575W |
probably damaging |
Het |
Fam187b |
A |
G |
7: 30,676,665 (GRCm39) |
D58G |
probably benign |
Het |
Galnt4 |
T |
C |
10: 98,945,243 (GRCm39) |
Y323H |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
H1f2 |
G |
T |
13: 23,922,883 (GRCm39) |
A18S |
unknown |
Het |
Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
Lemd2 |
C |
A |
17: 27,420,644 (GRCm39) |
L256F |
probably damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Nphs1 |
C |
A |
7: 30,166,965 (GRCm39) |
S724* |
probably null |
Het |
Or4g17 |
A |
G |
2: 111,209,840 (GRCm39) |
N165S |
probably benign |
Het |
Or5w13 |
T |
C |
2: 87,523,849 (GRCm39) |
I126V |
probably damaging |
Het |
Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,476,189 (GRCm39) |
|
probably benign |
Het |
Pld3 |
A |
G |
7: 27,235,212 (GRCm39) |
|
probably null |
Het |
Plekha7 |
C |
T |
7: 115,763,639 (GRCm39) |
R321K |
probably benign |
Het |
Plekhg5 |
C |
T |
4: 152,196,635 (GRCm39) |
T694M |
probably damaging |
Het |
Pramel31 |
T |
C |
4: 144,088,246 (GRCm39) |
V14A |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,334,253 (GRCm39) |
I44V |
probably benign |
Het |
Ptprj |
T |
A |
2: 90,270,975 (GRCm39) |
H1251L |
probably damaging |
Het |
Sbspon |
T |
C |
1: 15,962,806 (GRCm39) |
E24G |
probably benign |
Het |
Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
Sparcl1 |
T |
C |
5: 104,241,203 (GRCm39) |
T74A |
probably benign |
Het |
Sppl2b |
A |
G |
10: 80,703,325 (GRCm39) |
E529G |
probably benign |
Het |
Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,765,035 (GRCm39) |
N8D |
probably damaging |
Het |
Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,067,133 (GRCm39) |
L531S |
probably damaging |
Het |
Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
Vmn2r129 |
T |
A |
4: 156,685,730 (GRCm39) |
|
noncoding transcript |
Het |
Wdr19 |
T |
C |
5: 65,359,966 (GRCm39) |
S24P |
probably benign |
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 |
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 |
|
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'- GCTGCTTAGAAATGTTATCAAGGG -3'
(R):5'- AAGTGGAGATGTCAGCCTATCG -3'
Sequencing Primer
(F):5'- ATGTTATCAAGGGCAGTGGC -3'
(R):5'- AGTGCCTGCCAGCCTTAC -3'
|
Posted On |
2015-02-05 |