Incidental Mutation 'R8746:Adarb2'
| ID |
663569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adarb2
|
| Ensembl Gene |
ENSMUSG00000052551 |
| Gene Name |
adenosine deaminase, RNA-specific, B2 |
| Synonyms |
RED2, Adar3 |
| MMRRC Submission |
068590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
8252902-8818783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 8802680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 652
(A652S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064473]
[ENSMUST00000123187]
[ENSMUST00000135574]
|
| AlphaFold |
Q9JI20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064473
AA Change: A652S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: A652S
| 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 benign
Transcript: ENSMUST00000123187
AA Change: A652S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: A652S
| 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 benign
Transcript: ENSMUST00000135574
AA Change: A652S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: A652S
| 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: 99.5%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,451,529 (GRCm39) |
M871K |
probably benign |
Het |
| 5530400C23Rik |
A |
C |
6: 133,271,256 (GRCm39) |
E100A |
possibly damaging |
Het |
| Aatf |
A |
T |
11: 84,402,338 (GRCm39) |
I116N |
probably benign |
Het |
| Abcb11 |
G |
T |
2: 69,087,754 (GRCm39) |
|
probably benign |
Het |
| Adgb |
C |
T |
10: 10,281,028 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
C |
T |
3: 96,504,791 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,840,513 (GRCm39) |
I395V |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,581,696 (GRCm39) |
R203L |
probably damaging |
Het |
| Ccr2 |
T |
C |
9: 123,906,448 (GRCm39) |
F243L |
probably benign |
Het |
| Ccr4 |
A |
G |
9: 114,321,918 (GRCm39) |
V49A |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,803,465 (GRCm39) |
G833R |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,592,695 (GRCm39) |
D234G |
probably benign |
Het |
| Drd5 |
G |
T |
5: 38,477,433 (GRCm39) |
R142I |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,529,056 (GRCm39) |
D264G |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,553,534 (GRCm39) |
K61R |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,269,370 (GRCm39) |
T981S |
probably benign |
Het |
| Gcg |
T |
A |
2: 62,305,325 (GRCm39) |
K180N |
probably damaging |
Het |
| Gm10840 |
G |
A |
11: 106,051,742 (GRCm39) |
E23K |
unknown |
Het |
| Gm2696 |
T |
G |
10: 77,651,037 (GRCm39) |
C174W |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,899,985 (GRCm39) |
I299V |
probably benign |
Het |
| Hepacam |
T |
A |
9: 37,293,030 (GRCm39) |
V207E |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,864,745 (GRCm39) |
M1181K |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,806,384 (GRCm39) |
S96P |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,935,168 (GRCm39) |
E1533D |
probably benign |
Het |
| Megf9 |
A |
G |
4: 70,353,511 (GRCm39) |
C432R |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 101,954,040 (GRCm39) |
Y236H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,172,613 (GRCm39) |
I1565V |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,183,993 (GRCm39) |
|
probably benign |
Het |
| Or56b2j |
A |
T |
7: 104,353,067 (GRCm39) |
I98F |
probably damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,123,973 (GRCm39) |
F152L |
probably benign |
Het |
| Or5b3 |
A |
G |
19: 13,388,092 (GRCm39) |
D53G |
probably benign |
Het |
| Or5g24-ps1 |
T |
A |
2: 85,464,221 (GRCm39) |
Y149* |
probably null |
Het |
| Or6f1 |
C |
T |
7: 85,970,437 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or9k2b |
T |
C |
10: 130,016,086 (GRCm39) |
Y221C |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,394,067 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,809,624 (GRCm39) |
Q76L |
possibly damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,907,777 (GRCm39) |
T953K |
|
Het |
| Plekhn1 |
C |
A |
4: 156,316,682 (GRCm39) |
R333L |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,194,610 (GRCm39) |
V111D |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,954,597 (GRCm39) |
I398M |
possibly damaging |
Het |
| Ranbp3 |
T |
C |
17: 57,009,826 (GRCm39) |
V137A |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,757,744 (GRCm39) |
F21I |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,547,537 (GRCm39) |
S56P |
probably damaging |
Het |
| Rhpn1 |
G |
A |
15: 75,585,425 (GRCm39) |
V593M |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,437,784 (GRCm39) |
S589P |
probably benign |
Het |
| Skp1 |
A |
G |
11: 52,136,843 (GRCm39) |
K163R |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,962,063 (GRCm39) |
Y1080C |
probably damaging |
Het |
| Tcf4 |
C |
T |
18: 69,654,572 (GRCm39) |
|
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,732,655 (GRCm39) |
V208M |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 163,902,884 (GRCm39) |
L142Q |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,176,120 (GRCm39) |
V2316D |
unknown |
Het |
| Yme1l1 |
T |
A |
2: 23,052,543 (GRCm39) |
S66T |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,243,885 (GRCm39) |
S739P |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,224,157 (GRCm39) |
V209E |
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 |
|
R7113:Adarb2
|
UTSW |
13 |
8,781,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TCACGCGACTGAGTGTTAAG -3'
(R):5'- GAGCTTCCTCAGGGTTTTAACC -3'
Sequencing Primer
(F):5'- TTGTGAGAGTCTCATTCCAGC -3'
(R):5'- GTTTTAACCAGAGCCCAGGTACG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation