Incidental Mutation 'R5446:Adar'
| ID |
429064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adar
|
| Ensembl Gene |
ENSMUSG00000027951 |
| Gene Name |
adenosine deaminase, RNA-specific |
| Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
| MMRRC Submission |
043011-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5446 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89647486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 155
(N155S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
|
| AlphaFold |
Q99MU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029563
AA Change: N673S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: N673S
| Domain | Start | End | E-Value | Type |
|---|
|
Zalpha
|
134 |
203 |
8.97e-30 |
SMART |
|
Zalpha
|
244 |
312 |
7.69e-29 |
SMART |
|
low complexity region
|
322 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
|
DSRM
|
457 |
523 |
3.6e-21 |
SMART |
|
DSRM
|
568 |
634 |
4.36e-20 |
SMART |
|
DSRM
|
676 |
742 |
1.58e-17 |
SMART |
|
ADEAMc
|
762 |
1145 |
3.74e-205 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098924
AA Change: N425S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: N425S
| Domain | Start | End | E-Value | Type |
|---|
|
Zalpha
|
1 |
64 |
3.1e-24 |
SMART |
|
low complexity region
|
74 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
111 |
N/A |
INTRINSIC |
|
DSRM
|
209 |
275 |
3.6e-21 |
SMART |
|
DSRM
|
320 |
386 |
4.36e-20 |
SMART |
|
DSRM
|
428 |
494 |
1.58e-17 |
SMART |
|
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
|
ADEAMc
|
540 |
923 |
3.74e-205 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107405
AA Change: N673S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: N673S
| Domain | Start | End | E-Value | Type |
|---|
|
Zalpha
|
134 |
203 |
8.97e-30 |
SMART |
|
Zalpha
|
244 |
312 |
7.69e-29 |
SMART |
|
low complexity region
|
322 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
|
DSRM
|
457 |
523 |
3.6e-21 |
SMART |
|
DSRM
|
568 |
634 |
4.36e-20 |
SMART |
|
DSRM
|
676 |
742 |
1.58e-17 |
SMART |
|
low complexity region
|
763 |
774 |
N/A |
INTRINSIC |
|
ADEAMc
|
788 |
1171 |
3.74e-205 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118341
AA Change: N155S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: N155S
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
50 |
116 |
4.36e-20 |
SMART |
|
DSRM
|
158 |
224 |
1.58e-17 |
SMART |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
ADEAMc
|
270 |
653 |
3.74e-205 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121094
AA Change: N155S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: N155S
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
50 |
116 |
4.36e-20 |
SMART |
|
DSRM
|
158 |
224 |
1.58e-17 |
SMART |
|
ADEAMc
|
244 |
627 |
3.74e-205 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150637
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice die during gestation. Inactivation of this locus has been associated with increased apoptosis and, in some lines, defects in both primitive and definitive hematopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,296,505 (GRCm39) |
D1417G |
possibly damaging |
Het |
| Ankrd52 |
G |
T |
10: 128,224,430 (GRCm39) |
C736F |
probably damaging |
Het |
| Arhgap15 |
T |
A |
2: 43,718,772 (GRCm39) |
H85Q |
probably benign |
Het |
| Bcat2 |
G |
A |
7: 45,234,569 (GRCm39) |
R110H |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,823,564 (GRCm39) |
H4R |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,779,684 (GRCm39) |
I126V |
probably damaging |
Het |
| Cnbd2 |
A |
C |
2: 156,209,581 (GRCm39) |
E508A |
possibly damaging |
Het |
| Crb2 |
T |
C |
2: 37,685,461 (GRCm39) |
I1191T |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,144,217 (GRCm39) |
T1075A |
probably benign |
Het |
| Edil3 |
A |
C |
13: 89,332,957 (GRCm39) |
H371P |
possibly damaging |
Het |
| Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,523,030 (GRCm39) |
V737A |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,707,786 (GRCm39) |
V809A |
probably benign |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,479,502 (GRCm39) |
D276G |
probably null |
Het |
| Lipm |
C |
T |
19: 34,095,287 (GRCm39) |
A294V |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,880,462 (GRCm39) |
N1185D |
possibly damaging |
Het |
| Mmp27 |
T |
A |
9: 7,573,516 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
| Npnt |
A |
G |
3: 132,614,130 (GRCm39) |
L191P |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,711,893 (GRCm39) |
H241L |
probably damaging |
Het |
| Paip2b |
T |
C |
6: 83,791,844 (GRCm39) |
I13V |
probably benign |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,253 (GRCm39) |
L411Q |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,767,410 (GRCm39) |
N266S |
probably benign |
Het |
| Pnpla8 |
A |
G |
12: 44,337,368 (GRCm39) |
T454A |
possibly damaging |
Het |
| Prkcg |
A |
T |
7: 3,378,780 (GRCm39) |
Y675F |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 138,835,066 (GRCm39) |
I169N |
probably damaging |
Het |
| Rreb1 |
G |
A |
13: 38,082,473 (GRCm39) |
R86H |
possibly damaging |
Het |
| Smok3c |
A |
C |
5: 138,062,895 (GRCm39) |
L127F |
probably damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,657,095 (GRCm39) |
M427L |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,722 (GRCm39) |
T205A |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,659,867 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,837,231 (GRCm39) |
Y564C |
probably damaging |
Het |
| Vmn2r90 |
A |
C |
17: 17,932,464 (GRCm39) |
T124P |
probably damaging |
Het |
| Vpreb1a |
A |
T |
16: 16,686,554 (GRCm39) |
V112E |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,816,609 (GRCm39) |
L447S |
probably damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,107 (GRCm39) |
T539A |
probably damaging |
Het |
|
| Other mutations in Adar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Adar
|
APN |
3 |
89,638,147 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01743:Adar
|
APN |
3 |
89,652,747 (GRCm39) |
nonsense |
probably null |
|
|
IGL01982:Adar
|
APN |
3 |
89,645,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
Derrick
|
UTSW |
3 |
89,643,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hellfire
|
UTSW |
3 |
89,654,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
logimen
|
UTSW |
3 |
89,638,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
red
|
UTSW |
3 |
89,657,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Adar
|
UTSW |
3 |
89,638,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0464:Adar
|
UTSW |
3 |
89,642,889 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0674:Adar
|
UTSW |
3 |
89,657,130 (GRCm39) |
intron |
probably benign |
|
|
R0762:Adar
|
UTSW |
3 |
89,647,290 (GRCm39) |
splice site |
probably benign |
|
|
R1567:Adar
|
UTSW |
3 |
89,643,088 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1807:Adar
|
UTSW |
3 |
89,642,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1858:Adar
|
UTSW |
3 |
89,646,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1964:Adar
|
UTSW |
3 |
89,653,202 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2440:Adar
|
UTSW |
3 |
89,642,161 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3731:Adar
|
UTSW |
3 |
89,653,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3854:Adar
|
UTSW |
3 |
89,643,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4005:Adar
|
UTSW |
3 |
89,657,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Adar
|
UTSW |
3 |
89,647,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4693:Adar
|
UTSW |
3 |
89,643,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Adar
|
UTSW |
3 |
89,638,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5096:Adar
|
UTSW |
3 |
89,654,598 (GRCm39) |
makesense |
probably null |
|
|
R5199:Adar
|
UTSW |
3 |
89,653,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Adar
|
UTSW |
3 |
89,642,626 (GRCm39) |
missense |
probably benign |
|
|
R5406:Adar
|
UTSW |
3 |
89,643,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5411:Adar
|
UTSW |
3 |
89,646,519 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5660:Adar
|
UTSW |
3 |
89,642,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Adar
|
UTSW |
3 |
89,642,476 (GRCm39) |
missense |
probably benign |
|
|
R6087:Adar
|
UTSW |
3 |
89,652,897 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6935:Adar
|
UTSW |
3 |
89,654,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7644:Adar
|
UTSW |
3 |
89,652,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7893:Adar
|
UTSW |
3 |
89,657,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8018:Adar
|
UTSW |
3 |
89,654,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Adar
|
UTSW |
3 |
89,654,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Adar
|
UTSW |
3 |
89,657,569 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8424:Adar
|
UTSW |
3 |
89,643,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8466:Adar
|
UTSW |
3 |
89,658,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Adar
|
UTSW |
3 |
89,642,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Adar
|
UTSW |
3 |
89,643,445 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8960:Adar
|
UTSW |
3 |
89,647,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:Adar
|
UTSW |
3 |
89,643,045 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9108:Adar
|
UTSW |
3 |
89,643,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Adar
|
UTSW |
3 |
89,658,368 (GRCm39) |
nonsense |
probably null |
|
|
R9599:Adar
|
UTSW |
3 |
89,654,516 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTGGGCAAATAGGGTTGTC -3'
(R):5'- AAGTCTTCATTATGCCTGGCAG -3'
Sequencing Primer
(F):5'- CAAATAGGGTTGTCTTTGAGTCCCTC -3'
(R):5'- ATGCCTGGCAGACAATTTGC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation