Incidental Mutation 'R8791:Adar'
ID |
670931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adar
|
Ensembl Gene |
ENSMUSG00000027951 |
Gene Name |
adenosine deaminase, RNA-specific |
Synonyms |
mZaADAR, ADAR1, Adar1p150, Adar1p110 |
MMRRC Submission |
068609-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8791 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89622329-89660753 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89643445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 442
(R442Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029563]
[ENSMUST00000098924]
[ENSMUST00000107405]
[ENSMUST00000118341]
[ENSMUST00000121094]
|
AlphaFold |
Q99MU3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029563
AA Change: R442Q
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000029563 Gene: ENSMUSG00000027951 AA Change: R442Q
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 benign
Transcript: ENSMUST00000098924
AA Change: R194Q
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000096525 Gene: ENSMUSG00000027951 AA Change: R194Q
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 benign
Transcript: ENSMUST00000107405
AA Change: R442Q
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000103028 Gene: ENSMUSG00000027951 AA Change: R442Q
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 benign
Transcript: ENSMUST00000118341
|
SMART Domains |
Protein: ENSMUSP00000113453 Gene: ENSMUSG00000027951
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 benign
Transcript: ENSMUST00000121094
|
SMART Domains |
Protein: ENSMUSP00000112969 Gene: ENSMUSG00000027951
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (47/47) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
G |
T |
2: 103,823,022 (GRCm39) |
T87K |
possibly damaging |
Het |
Agtr1b |
T |
A |
3: 20,370,280 (GRCm39) |
S109C |
probably damaging |
Het |
Akr1c6 |
T |
A |
13: 4,499,373 (GRCm39) |
Y248N |
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,438,597 (GRCm39) |
V932E |
probably benign |
Het |
Apba3 |
T |
A |
10: 81,105,104 (GRCm39) |
S126T |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,466,061 (GRCm39) |
S1942T |
possibly damaging |
Het |
Ccdc149 |
C |
T |
5: 52,596,552 (GRCm39) |
C20Y |
probably damaging |
Het |
Cd63 |
C |
A |
10: 128,748,071 (GRCm39) |
N156K |
probably benign |
Het |
Clvs1 |
A |
G |
4: 9,429,807 (GRCm39) |
E270G |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,216,744 (GRCm39) |
Y654C |
probably damaging |
Het |
Dgki |
A |
T |
6: 36,996,875 (GRCm39) |
D574E |
probably damaging |
Het |
Esrrb |
A |
G |
12: 86,517,056 (GRCm39) |
S63G |
probably damaging |
Het |
Exoc1 |
C |
T |
5: 76,683,412 (GRCm39) |
R46C |
probably damaging |
Het |
Fcgr4 |
C |
A |
1: 170,847,477 (GRCm39) |
A25D |
probably damaging |
Het |
Fgf4 |
T |
C |
7: 144,415,408 (GRCm39) |
V56A |
probably benign |
Het |
Gfpt2 |
A |
G |
11: 49,714,043 (GRCm39) |
I267V |
probably benign |
Het |
Gm20939 |
A |
C |
17: 95,184,648 (GRCm39) |
H432P |
probably damaging |
Het |
Gpr179 |
A |
T |
11: 97,242,739 (GRCm39) |
L35Q |
probably damaging |
Het |
Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
Ildr1 |
T |
C |
16: 36,528,762 (GRCm39) |
I69T |
probably damaging |
Het |
Lrfn1 |
A |
G |
7: 28,159,344 (GRCm39) |
D421G |
probably benign |
Het |
Mmp15 |
C |
T |
8: 96,096,288 (GRCm39) |
Q360* |
probably null |
Het |
Nfatc2 |
T |
C |
2: 168,378,214 (GRCm39) |
K484E |
probably damaging |
Het |
Nkpd1 |
G |
C |
7: 19,258,095 (GRCm39) |
V625L |
probably benign |
Het |
Nlrp4a |
C |
A |
7: 26,143,561 (GRCm39) |
|
probably benign |
Het |
Nme9 |
T |
A |
9: 99,350,301 (GRCm39) |
I178N |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,788,356 (GRCm39) |
T352I |
probably damaging |
Het |
Ntrk1 |
T |
C |
3: 87,686,990 (GRCm39) |
I723V |
probably damaging |
Het |
Or5p50 |
C |
T |
7: 107,422,557 (GRCm39) |
V40M |
possibly damaging |
Het |
Pias3 |
C |
A |
3: 96,612,201 (GRCm39) |
Q553K |
probably benign |
Het |
Pnp2 |
T |
G |
14: 51,200,873 (GRCm39) |
H119Q |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,459,295 (GRCm39) |
D156E |
probably benign |
Het |
Rint1 |
T |
C |
5: 24,005,594 (GRCm39) |
V92A |
probably damaging |
Het |
Rnf148 |
A |
T |
6: 23,654,993 (GRCm39) |
M1K |
probably null |
Het |
Rnh1 |
C |
T |
7: 140,742,346 (GRCm39) |
R404H |
probably benign |
Het |
Slc4a8 |
T |
C |
15: 100,705,134 (GRCm39) |
V832A |
possibly damaging |
Het |
Snx31 |
A |
T |
15: 36,537,678 (GRCm39) |
C167S |
probably benign |
Het |
Spart |
A |
G |
3: 55,029,100 (GRCm39) |
D297G |
probably benign |
Het |
Spata13 |
C |
T |
14: 60,929,275 (GRCm39) |
R278C |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,767,209 (GRCm39) |
T716A |
probably benign |
Het |
Tpi1 |
A |
G |
6: 124,789,483 (GRCm39) |
V164A |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,862,002 (GRCm39) |
S345G |
probably benign |
Het |
Vmn1r199 |
T |
A |
13: 22,567,687 (GRCm39) |
L327Q |
probably damaging |
Het |
Washc4 |
C |
T |
10: 83,386,748 (GRCm39) |
T124I |
probably benign |
Het |
Wdr76 |
C |
T |
2: 121,357,484 (GRCm39) |
T180I |
probably benign |
Het |
Zcchc8 |
T |
C |
5: 123,845,362 (GRCm39) |
N333D |
probably benign |
Het |
Zfp516 |
T |
C |
18: 82,975,460 (GRCm39) |
S553P |
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 |
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 |
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'- GGAGCCTGCGATAAAGCATG -3'
(R):5'- GACTCCTACTAGGCATGATTTCTGG -3'
Sequencing Primer
(F):5'- ACCAATGAGACTGCGGC -3'
(R):5'- GGCAGTCTCTTACCGAGGTTC -3'
|
Posted On |
2021-04-30 |