Incidental Mutation 'R8018:Adar'
| ID |
617203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adar
|
| Ensembl Gene |
ENSMUSG00000027951 |
| Gene Name |
adenosine deaminase, RNA-specific |
| Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
| MMRRC Submission |
067458-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89654882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 924
(S924P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029562]
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
[ENSMUST00000200558]
|
| AlphaFold |
Q99MU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029562
|
| SMART Domains |
Protein: ENSMUSP00000029562
Gene: ENSMUSG00000027950
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
29 |
234 |
5.6e-75 |
PFAM |
|
Pfam:Neur_chan_memb
|
241 |
477 |
1.7e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029563
AA Change: S898P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: S898P
| 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: S676P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: S676P
| 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: S924P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: S924P
| 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: S406P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: S406P
| 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: S380P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: S380P
| 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 |
unknown
Transcript: ENSMUST00000200558
AA Change: I634V
|
| SMART Domains |
Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: I634V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
29 |
234 |
1.5e-71 |
PFAM |
|
Pfam:Neur_chan_memb
|
241 |
454 |
4.8e-61 |
PFAM |
|
low complexity region
|
657 |
666 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2236 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (45/46) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,880,991 (GRCm39) |
T146I |
unknown |
Het |
| Abca16 |
A |
G |
7: 120,132,866 (GRCm39) |
E1265G |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,814,003 (GRCm39) |
L392Q |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,771,260 (GRCm39) |
D985G |
possibly damaging |
Het |
| Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,095 (GRCm39) |
K280R |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnaaf4 |
T |
A |
9: 72,879,598 (GRCm39) |
|
probably benign |
Het |
| Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
| Elfn2 |
A |
G |
15: 78,557,968 (GRCm39) |
L193P |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,166,933 (GRCm39) |
L20* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,684,948 (GRCm39) |
D501G |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,268,143 (GRCm39) |
E399G |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,184,737 (GRCm39) |
E356G |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,639 (GRCm39) |
|
probably null |
Het |
| Kcnh2 |
G |
A |
5: 24,525,014 (GRCm39) |
S1158L |
probably damaging |
Het |
| Lancl2 |
A |
G |
6: 57,690,078 (GRCm39) |
T104A |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Mthfd2l |
T |
A |
5: 91,107,672 (GRCm39) |
I178N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,225 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,593,006 (GRCm39) |
K564* |
probably null |
Het |
| Nipal3 |
C |
T |
4: 135,174,659 (GRCm39) |
R364H |
possibly damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,038 (GRCm39) |
M1V |
probably null |
Het |
| Oxa1l |
A |
G |
14: 54,600,757 (GRCm39) |
I77V |
not run |
Het |
| Phf10 |
T |
A |
17: 15,174,378 (GRCm39) |
Q233H |
possibly damaging |
Het |
| Pias2 |
T |
A |
18: 77,216,654 (GRCm39) |
N288K |
probably benign |
Het |
| Pramel43 |
T |
C |
5: 94,761,839 (GRCm39) |
N244S |
probably benign |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,182,311 (GRCm39) |
D1676G |
probably damaging |
Het |
| Rapgefl1 |
T |
G |
11: 98,731,166 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
C |
T |
15: 83,001,125 (GRCm39) |
E269K |
possibly damaging |
Het |
| Ryr3 |
A |
C |
2: 112,508,777 (GRCm39) |
M3399R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,587,829 (GRCm39) |
R762L |
probably damaging |
Het |
| Smad7 |
T |
G |
18: 75,502,355 (GRCm39) |
L110R |
possibly damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tcea3 |
T |
G |
4: 135,985,229 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,999,180 (GRCm39) |
V765A |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 112,010,822 (GRCm39) |
R1130W |
probably damaging |
Het |
| Tia1 |
C |
T |
6: 86,402,034 (GRCm39) |
P189S |
probably benign |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ubxn8 |
A |
G |
8: 34,113,243 (GRCm39) |
C204R |
probably damaging |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,810 (GRCm39) |
S135P |
probably damaging |
Het |
| Vps18 |
T |
A |
2: 119,124,492 (GRCm39) |
L473H |
probably damaging |
Het |
| Zfp444 |
A |
G |
7: 6,191,142 (GRCm39) |
T108A |
probably benign |
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 |
|
R5446:Adar
|
UTSW |
3 |
89,647,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGTACTATAGCCCCACCTGC -3'
(R):5'- ACGACCAAGACACAGTGTGG -3'
Sequencing Primer
(F):5'- ATGGCAAAGGCATCCCTG -3'
(R):5'- TCAGCAGCCTGGAGTCAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation