Incidental Mutation 'R3412:Adarb2'
| ID |
267780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adarb2
|
| Ensembl Gene |
ENSMUSG00000052551 |
| Gene Name |
adenosine deaminase, RNA-specific, B2 |
| Synonyms |
RED2, Adar3 |
| MMRRC Submission |
040630-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
8252902-8818783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8802654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 643
(F643S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064473]
[ENSMUST00000123187]
[ENSMUST00000135574]
|
| AlphaFold |
Q9JI20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064473
AA Change: F643S
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: F643S
| 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: F643S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: F643S
| 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: F643S
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: F643S
| 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 |
|
| Meta Mutation Damage Score |
0.6463 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,724 (GRCm39) |
I492V |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,415,545 (GRCm39) |
|
probably benign |
Het |
| Duxf4 |
G |
A |
10: 58,072,175 (GRCm39) |
T13I |
possibly damaging |
Het |
| Esp24 |
T |
A |
17: 39,349,207 (GRCm39) |
I11N |
possibly damaging |
Het |
| Exoc4 |
A |
G |
6: 33,242,910 (GRCm39) |
E41G |
probably damaging |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Gria4 |
T |
A |
9: 4,513,278 (GRCm39) |
D277V |
probably benign |
Het |
| Il18r1 |
A |
T |
1: 40,530,227 (GRCm39) |
D318V |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Krt90 |
T |
A |
15: 101,469,028 (GRCm39) |
L171F |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,523 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
T |
C |
7: 102,423,962 (GRCm39) |
L77P |
possibly damaging |
Het |
| Or51q1 |
T |
C |
7: 103,628,609 (GRCm39) |
L76P |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,954 (GRCm39) |
I24V |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,273,176 (GRCm39) |
D165V |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Prss43 |
G |
C |
9: 110,658,532 (GRCm39) |
Q277H |
probably damaging |
Het |
| Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,810,351 (GRCm39) |
D10G |
probably benign |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,714,146 (GRCm39) |
D1108G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,336,724 (GRCm39) |
T2369A |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,470,030 (GRCm39) |
I933V |
possibly damaging |
Het |
| Tex9 |
C |
A |
9: 72,385,040 (GRCm39) |
Q265H |
possibly damaging |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,004,479 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
probably 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 |
|
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 |
|
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'- GTAGAACTGTGCCTTCACGC -3'
(R):5'- TTTAACCAGAGCCCAGGTACG -3'
Sequencing Primer
(F):5'- CCTTCACGCGACTGAGTGTTAAG -3'
(R):5'- GGCTAATTTTCTCCCCAGAAAGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation