Incidental Mutation 'R5199:Adar'
| ID |
400549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adar
|
| Ensembl Gene |
ENSMUSG00000027951 |
| Gene Name |
adenosine deaminase, RNA-specific |
| Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
| MMRRC Submission |
042775-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5199 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89653251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 797
(M797K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
[ENSMUST00000200558]
|
| AlphaFold |
Q99MU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029563
AA Change: M797K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: M797K
| 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: M575K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: M575K
| 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: M823K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: M823K
| 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: M305K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: M305K
| 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: M279K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: M279K
| 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: ENSMUST00000131030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200558
|
| SMART Domains |
Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
| 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 |
0.9593 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (57/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
C |
3: 59,843,906 (GRCm39) |
L200P |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,659,215 (GRCm39) |
E26G |
probably benign |
Het |
| Amdhd1 |
A |
T |
10: 93,361,847 (GRCm39) |
C352S |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,473,356 (GRCm39) |
R387S |
probably damaging |
Het |
| Cabp1 |
A |
G |
5: 115,324,102 (GRCm39) |
V5A |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,295,853 (GRCm39) |
L387P |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,140,403 (GRCm39) |
H200Q |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,710,581 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,483,425 (GRCm39) |
D956G |
possibly damaging |
Het |
| Cnot8 |
C |
T |
11: 58,006,100 (GRCm39) |
Q210* |
probably null |
Het |
| Cpne8 |
G |
A |
15: 90,532,812 (GRCm39) |
T65I |
probably benign |
Het |
| Crygn |
A |
G |
5: 24,961,156 (GRCm39) |
V50A |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,283 (GRCm39) |
V126A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,921,346 (GRCm39) |
D464G |
probably benign |
Het |
| Dapp1 |
C |
T |
3: 137,687,146 (GRCm39) |
S12N |
probably benign |
Het |
| Dhps |
G |
A |
8: 85,800,035 (GRCm39) |
G162R |
probably damaging |
Het |
| Dsp |
T |
G |
13: 38,376,878 (GRCm39) |
Y1554* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,748,853 (GRCm39) |
R397L |
probably damaging |
Het |
| Ezh2 |
C |
T |
6: 47,528,659 (GRCm39) |
C291Y |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,678 (GRCm39) |
S303G |
probably benign |
Het |
| Gm11444 |
A |
C |
11: 85,738,845 (GRCm39) |
S83A |
unknown |
Het |
| Gpat4 |
A |
G |
8: 23,672,712 (GRCm39) |
V46A |
possibly damaging |
Het |
| Haus6 |
T |
C |
4: 86,501,222 (GRCm39) |
D883G |
possibly damaging |
Het |
| Hinfp |
T |
C |
9: 44,207,689 (GRCm39) |
E439G |
probably benign |
Het |
| Ifna14 |
T |
A |
4: 88,489,599 (GRCm39) |
Y146F |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,488 (GRCm39) |
Y110F |
probably damaging |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,942 (GRCm39) |
|
noncoding transcript |
Het |
| Klrh1 |
T |
A |
6: 129,752,781 (GRCm39) |
Y8F |
possibly damaging |
Het |
| Mcmdc2 |
T |
C |
1: 9,990,660 (GRCm39) |
V279A |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,017,619 (GRCm39) |
V452D |
probably benign |
Het |
| Ndufb3 |
C |
G |
1: 58,630,281 (GRCm39) |
|
probably benign |
Het |
| Oas1d |
G |
T |
5: 121,057,208 (GRCm39) |
K271N |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,107 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,124,103 (GRCm39) |
F196I |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,590,558 (GRCm39) |
L54P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,254,378 (GRCm39) |
H817L |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,352 (GRCm39) |
S724R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,101,124 (GRCm39) |
V464E |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,803,272 (GRCm39) |
E38G |
probably benign |
Het |
| Qtrt2 |
T |
C |
16: 43,687,788 (GRCm39) |
N264S |
probably benign |
Het |
| Ranbp2 |
G |
A |
10: 58,300,265 (GRCm39) |
R557H |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,494,642 (GRCm39) |
S3T |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,406,019 (GRCm39) |
Y60F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,985,564 (GRCm39) |
V30A |
probably benign |
Het |
| Tmem245 |
G |
A |
4: 56,925,149 (GRCm39) |
S324L |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,223,871 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,589,636 (GRCm39) |
T382A |
possibly damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,814 (GRCm39) |
L214F |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,921 (GRCm39) |
C640Y |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,639,984 (GRCm39) |
D281G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,013 (GRCm39) |
C1017S |
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 |
|
|
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 |
|
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'- TAGGGAAAGATGACTCTCCTGC -3'
(R):5'- TGAGTGTCACATCGGCAAC -3'
Sequencing Primer
(F):5'- AGATGACTCTCCTGCCAACTGG -3'
(R):5'- GTGTCACATCGGCAACTTTGAAGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation