Incidental Mutation 'R7113:Adarb2'
| ID |
551643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adarb2
|
| Ensembl Gene |
ENSMUSG00000052551 |
| Gene Name |
adenosine deaminase, RNA-specific, B2 |
| Synonyms |
RED2, Adar3 |
| MMRRC Submission |
045205-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
8252902-8818783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8781881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 586
(Y586H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064473]
[ENSMUST00000123187]
[ENSMUST00000135574]
|
| AlphaFold |
Q9JI20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064473
AA Change: Y586H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: Y586H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
1.03e-16 |
SMART |
|
DSRM
|
284 |
346 |
1.24e-15 |
SMART |
|
ADEAMc
|
366 |
742 |
5.41e-211 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123187
AA Change: Y586H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: Y586H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
6.1e-19 |
SMART |
|
DSRM
|
284 |
346 |
7.3e-18 |
SMART |
|
ADEAMc
|
366 |
698 |
2e-164 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135574
AA Change: Y586H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: Y586H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
DSRM
|
126 |
190 |
1.03e-16 |
SMART |
|
DSRM
|
284 |
346 |
1.24e-15 |
SMART |
|
ADEAMc
|
366 |
742 |
5.41e-211 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (53/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
C |
13: 104,449,267 (GRCm39) |
S226P |
probably benign |
Het |
| Ano7 |
A |
T |
1: 93,313,342 (GRCm39) |
E160V |
probably benign |
Het |
| Apob |
G |
C |
12: 8,045,539 (GRCm39) |
A895P |
probably damaging |
Het |
| Ccdc157 |
T |
C |
11: 4,098,889 (GRCm39) |
T206A |
possibly damaging |
Het |
| Ceacam18 |
A |
G |
7: 43,291,400 (GRCm39) |
N281D |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,110,083 (GRCm39) |
D337G |
probably damaging |
Het |
| Chil4 |
T |
G |
3: 106,121,664 (GRCm39) |
K62Q |
probably benign |
Het |
| Cic |
A |
T |
7: 24,972,869 (GRCm39) |
I867F |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,968,064 (GRCm39) |
E761G |
probably damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,674,403 (GRCm39) |
Y493F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,075,788 (GRCm39) |
F3026L |
probably benign |
Het |
| Ehd3 |
T |
A |
17: 74,137,179 (GRCm39) |
D449E |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,853,597 (GRCm39) |
D3696E |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,566 (GRCm39) |
I1294N |
probably damaging |
Het |
| Il19 |
T |
C |
1: 130,862,732 (GRCm39) |
I139V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 66,993,780 (GRCm39) |
I87N |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,301,448 (GRCm39) |
L433P |
probably damaging |
Het |
| Kif9 |
A |
T |
9: 110,335,732 (GRCm39) |
N378Y |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,697,664 (GRCm39) |
V440E |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,509,625 (GRCm39) |
I781T |
unknown |
Het |
| Manea |
A |
T |
4: 26,336,718 (GRCm39) |
L186Q |
probably damaging |
Het |
| Mas1 |
A |
G |
17: 13,061,324 (GRCm39) |
I33T |
probably benign |
Het |
| Med13l |
A |
G |
5: 118,864,330 (GRCm39) |
S389G |
probably benign |
Het |
| Nxph3 |
T |
C |
11: 95,401,892 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,568 (GRCm39) |
F105Y |
possibly damaging |
Het |
| Or8g52 |
G |
C |
9: 39,630,973 (GRCm39) |
C150S |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,094,757 (GRCm39) |
D422G |
probably benign |
Het |
| Pias4 |
A |
C |
10: 80,990,287 (GRCm39) |
V416G |
possibly damaging |
Het |
| Pik3cg |
T |
A |
12: 32,255,666 (GRCm39) |
Y107F |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,590,203 (GRCm39) |
W156R |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,492 (GRCm39) |
D167G |
probably damaging |
Het |
| Podxl |
T |
A |
6: 31,501,668 (GRCm39) |
|
probably null |
Het |
| Ppp1r2 |
T |
C |
16: 31,073,536 (GRCm39) |
D197G |
probably benign |
Het |
| Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,766,025 (GRCm39) |
S368T |
probably benign |
Het |
| Rdh8 |
G |
T |
9: 20,736,623 (GRCm39) |
R230L |
probably benign |
Het |
| Rpl35 |
A |
C |
2: 38,894,168 (GRCm39) |
L58R |
probably damaging |
Het |
| Rtp3 |
A |
C |
9: 110,815,767 (GRCm39) |
C199W |
probably damaging |
Het |
| S100pbp |
G |
A |
4: 129,075,896 (GRCm39) |
T143I |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,904 (GRCm39) |
E782G |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,484,205 (GRCm39) |
V114A |
probably benign |
Het |
| Speer1c |
G |
A |
5: 10,292,977 (GRCm39) |
P189S |
|
Het |
| Stpg2 |
G |
A |
3: 139,407,535 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,113 (GRCm39) |
S224G |
possibly damaging |
Het |
| Triml2 |
T |
A |
8: 43,636,370 (GRCm39) |
Y52N |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,783,765 (GRCm39) |
I236N |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,507,054 (GRCm39) |
D602G |
probably benign |
Het |
| Upk1a |
A |
G |
7: 30,309,236 (GRCm39) |
S29P |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,350,001 (GRCm39) |
L527P |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,399,011 (GRCm39) |
|
probably null |
Het |
| Vstm2l |
G |
T |
2: 157,756,649 (GRCm39) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,632,007 (GRCm39) |
G1952V |
|
Het |
| Zfand6 |
A |
C |
7: 84,265,077 (GRCm39) |
I208S |
probably damaging |
Het |
| Zfp236 |
A |
G |
18: 82,638,462 (GRCm39) |
I1386T |
possibly damaging |
Het |
|
| Other mutations in Adarb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Adarb2
|
APN |
13 |
8,751,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00910:Adarb2
|
APN |
13 |
8,722,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Adarb2
|
APN |
13 |
8,253,329 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01337:Adarb2
|
APN |
13 |
8,620,282 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01508:Adarb2
|
APN |
13 |
8,802,606 (GRCm39) |
splice site |
probably null |
|
|
IGL01792:Adarb2
|
APN |
13 |
8,620,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Adarb2
|
APN |
13 |
8,619,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Adarb2
|
APN |
13 |
8,619,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0304:Adarb2
|
UTSW |
13 |
8,802,606 (GRCm39) |
splice site |
probably benign |
|
|
R0463:Adarb2
|
UTSW |
13 |
8,253,224 (GRCm39) |
start gained |
probably benign |
|
|
R0646:Adarb2
|
UTSW |
13 |
8,781,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Adarb2
|
UTSW |
13 |
8,722,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Adarb2
|
UTSW |
13 |
8,807,359 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1451:Adarb2
|
UTSW |
13 |
8,389,657 (GRCm39) |
intron |
probably benign |
|
|
R1656:Adarb2
|
UTSW |
13 |
8,253,287 (GRCm39) |
missense |
unknown |
|
|
R1939:Adarb2
|
UTSW |
13 |
8,253,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2212:Adarb2
|
UTSW |
13 |
8,802,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Adarb2
|
UTSW |
13 |
8,619,810 (GRCm39) |
nonsense |
probably null |
|
|
R2993:Adarb2
|
UTSW |
13 |
8,763,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3157:Adarb2
|
UTSW |
13 |
8,747,669 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3177:Adarb2
|
UTSW |
13 |
8,802,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Adarb2
|
UTSW |
13 |
8,802,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3412:Adarb2
|
UTSW |
13 |
8,802,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Adarb2
|
UTSW |
13 |
8,620,455 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4505:Adarb2
|
UTSW |
13 |
8,747,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5232:Adarb2
|
UTSW |
13 |
8,763,676 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5831:Adarb2
|
UTSW |
13 |
8,609,169 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7252:Adarb2
|
UTSW |
13 |
8,620,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7259:Adarb2
|
UTSW |
13 |
8,620,288 (GRCm39) |
missense |
probably benign |
|
|
R7346:Adarb2
|
UTSW |
13 |
8,620,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Adarb2
|
UTSW |
13 |
8,807,313 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7724:Adarb2
|
UTSW |
13 |
8,620,292 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7733:Adarb2
|
UTSW |
13 |
8,802,644 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7749:Adarb2
|
UTSW |
13 |
8,619,775 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8683:Adarb2
|
UTSW |
13 |
8,807,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Adarb2
|
UTSW |
13 |
8,802,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8981:Adarb2
|
UTSW |
13 |
8,751,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Adarb2
|
UTSW |
13 |
8,807,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Adarb2
|
UTSW |
13 |
8,619,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adarb2
|
UTSW |
13 |
8,620,236 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTCAGCAGGCATAGCTC -3'
(R):5'- ACCAGAAAAGAGTTGCAACCATTG -3'
Sequencing Primer
(F):5'- AGCAGGCATAGCTCCCAGC -3'
(R):5'- GCAACCATTGGTTCTGTATTCAGCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation