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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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