Incidental Mutation 'R8466:Adar'
| ID |
656815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adar
|
| Ensembl Gene |
ENSMUSG00000027951 |
| Gene Name |
adenosine deaminase, RNA-specific |
| Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
| MMRRC Submission |
067910-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89658466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 656
(P656L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113453
(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: P1148L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: P1148L
| 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: P926L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: P926L
| 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: P1174L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: P1174L
| 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: P656L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: P656L
| 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: P630L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: P630L
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,437,873 (GRCm39) |
E94G |
probably benign |
Het |
| Abhd16a |
G |
T |
17: 35,313,236 (GRCm39) |
R118L |
probably damaging |
Het |
| Adamts1 |
A |
G |
16: 85,599,400 (GRCm39) |
S67P |
probably benign |
Het |
| Afg3l1 |
G |
A |
8: 124,216,648 (GRCm39) |
D296N |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,088,659 (GRCm39) |
R2096Q |
probably damaging |
Het |
| Aldh1a2 |
T |
A |
9: 71,160,205 (GRCm39) |
I77K |
probably benign |
Het |
| Cacnb4 |
A |
C |
2: 52,354,679 (GRCm39) |
V233G |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,206,987 (GRCm39) |
Q286L |
probably damaging |
Het |
| Camta1 |
T |
A |
4: 151,170,577 (GRCm39) |
K1055* |
probably null |
Het |
| Ccdc96 |
C |
A |
5: 36,642,252 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,160,073 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Ddx24 |
G |
T |
12: 103,376,160 (GRCm39) |
L779I |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,336 (GRCm39) |
E378G |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,438,621 (GRCm39) |
N172D |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,466 (GRCm39) |
Q280H |
possibly damaging |
Het |
| Gprin3 |
T |
A |
6: 59,331,467 (GRCm39) |
Q280L |
probably benign |
Het |
| Gucy2d |
C |
A |
7: 98,099,237 (GRCm39) |
P351Q |
probably damaging |
Het |
| H2-M11 |
G |
A |
17: 36,858,985 (GRCm39) |
G175D |
probably benign |
Het |
| Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,120,948 (GRCm39) |
E2695K |
|
Het |
| Lsg1 |
T |
C |
16: 30,400,919 (GRCm39) |
Q130R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,349,237 (GRCm39) |
T2100A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,554,444 (GRCm39) |
T3950A |
unknown |
Het |
| Myo1c |
G |
A |
11: 75,549,213 (GRCm39) |
R109H |
probably damaging |
Het |
| Nol4 |
C |
A |
18: 23,171,638 (GRCm39) |
A8S |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,855,913 (GRCm39) |
T160S |
probably damaging |
Het |
| Or1p1b |
A |
G |
11: 74,131,016 (GRCm39) |
I209V |
probably benign |
Het |
| Pabpn1l |
C |
T |
8: 123,347,625 (GRCm39) |
V216M |
possibly damaging |
Het |
| Papln |
A |
C |
12: 83,825,255 (GRCm39) |
|
probably null |
Het |
| Pcsk5 |
A |
T |
19: 17,549,864 (GRCm39) |
C709* |
probably null |
Het |
| Pglyrp3 |
T |
A |
3: 91,921,941 (GRCm39) |
V3E |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,130,963 (GRCm39) |
N831D |
probably damaging |
Het |
| Prp2rt |
T |
C |
13: 97,235,492 (GRCm39) |
D85G |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,215,802 (GRCm39) |
D40G |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,316,057 (GRCm39) |
F208S |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,218,985 (GRCm39) |
N117K |
probably damaging |
Het |
| Srsf9 |
G |
C |
5: 115,465,492 (GRCm39) |
R42P |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,785,924 (GRCm39) |
I451N |
probably damaging |
Het |
| Tecrl |
A |
T |
5: 83,428,367 (GRCm39) |
Y301* |
probably null |
Het |
| Togaram1 |
T |
C |
12: 65,033,216 (GRCm39) |
S1065P |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,350,630 (GRCm39) |
L39Q |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,654,365 (GRCm39) |
S241T |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,783,997 (GRCm39) |
F159S |
probably damaging |
Het |
| Wdr76 |
A |
C |
2: 121,341,038 (GRCm39) |
N28H |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,310,353 (GRCm39) |
Y731F |
possibly damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,307,762 (GRCm39) |
E329D |
probably damaging |
Het |
| Zswim8 |
A |
T |
14: 20,760,744 (GRCm39) |
Q83L |
possibly 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 |
|
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 |
|
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'- TTAAGAAGCTCTGCTCCTTCCG -3'
(R):5'- GGCCTCTTCCCTTGAGAAAAG -3'
Sequencing Primer
(F):5'- TTCCGAGCCCGCAGAGATTTAC -3'
(R):5'- GCTGGACCCCACCTTGAAATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation