Incidental Mutation 'R3157:Adarb2'
ID |
263557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adarb2
|
Ensembl Gene |
ENSMUSG00000052551 |
Gene Name |
adenosine deaminase, RNA-specific, B2 |
Synonyms |
RED2, Adar3 |
MMRRC Submission |
040608-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3157 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
8252902-8818783 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 8747669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 408
(K408N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064473]
[ENSMUST00000123187]
[ENSMUST00000135574]
|
AlphaFold |
Q9JI20 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064473
AA Change: K408N
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000064775 Gene: ENSMUSG00000052551 AA Change: K408N
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: K408N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000120757 Gene: ENSMUSG00000052551 AA Change: K408N
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: K408N
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000115148 Gene: ENSMUSG00000052551 AA Change: K408N
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (47/48) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
Ap1g2 |
A |
T |
14: 55,336,731 (GRCm39) |
I747N |
probably damaging |
Het |
Arhgap27 |
T |
A |
11: 103,224,663 (GRCm39) |
|
probably null |
Het |
Bmp1 |
G |
T |
14: 70,729,547 (GRCm39) |
N541K |
possibly damaging |
Het |
Cacna1c |
T |
A |
6: 118,728,485 (GRCm39) |
T320S |
probably benign |
Het |
Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
D630003M21Rik |
A |
C |
2: 158,037,392 (GRCm39) |
|
probably benign |
Het |
Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,127,195 (GRCm39) |
Y1058H |
probably benign |
Het |
Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,474,901 (GRCm39) |
T4A |
probably damaging |
Het |
Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,290,267 (GRCm39) |
N2367D |
probably damaging |
Het |
Hydin |
A |
G |
8: 110,994,005 (GRCm39) |
K13R |
unknown |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcns1 |
G |
A |
2: 164,006,865 (GRCm39) |
A366V |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,081,310 (GRCm39) |
I208N |
probably damaging |
Het |
Klrb1c |
G |
T |
6: 128,761,702 (GRCm39) |
T134K |
possibly damaging |
Het |
Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
Mgat4d |
T |
C |
8: 84,081,450 (GRCm39) |
Y68H |
probably benign |
Het |
Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
Ncapg |
T |
A |
5: 45,833,400 (GRCm39) |
D295E |
probably benign |
Het |
Npas2 |
C |
T |
1: 39,386,690 (GRCm39) |
T653M |
possibly damaging |
Het |
Nps |
A |
G |
7: 134,873,989 (GRCm39) |
D53G |
probably benign |
Het |
Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,073,145 (GRCm39) |
T259A |
probably damaging |
Het |
Pced1a |
A |
G |
2: 130,261,687 (GRCm39) |
M322T |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,028,475 (GRCm39) |
|
probably benign |
Het |
Pigg |
C |
T |
5: 108,462,014 (GRCm39) |
T115I |
probably damaging |
Het |
Plcd4 |
G |
A |
1: 74,590,313 (GRCm39) |
|
probably null |
Het |
Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 156,986,225 (GRCm39) |
|
probably benign |
Het |
Rec8 |
A |
G |
14: 55,862,763 (GRCm39) |
E574G |
probably damaging |
Het |
Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
Slc16a8 |
T |
C |
15: 79,136,375 (GRCm39) |
I276V |
probably damaging |
Het |
Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
Synpr |
C |
T |
14: 13,493,614 (GRCm38) |
A64V |
possibly damaging |
Het |
Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
Tpt1 |
G |
A |
14: 76,083,840 (GRCm39) |
|
probably benign |
Het |
Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
Ttll4 |
T |
C |
1: 74,736,770 (GRCm39) |
L1165P |
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 |
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 |
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'- TGATGTCTATCAAAACAGAACCTGA -3'
(R):5'- AGGGGCCCCTTTACCTCAAG -3'
Sequencing Primer
(F):5'- TGAGGCATGTCTAACAAGTCTCC -3'
(R):5'- TTACCTCAAGTGCAGCTCCAG -3'
|
Posted On |
2015-02-05 |