Incidental Mutation 'R9796:Adarb2'
ID 734956
Institutional Source Beutler Lab
Gene Symbol Adarb2
Ensembl Gene ENSMUSG00000052551
Gene Name adenosine deaminase, RNA-specific, B2
Synonyms RED2, Adar3
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9796 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 8252902-8818783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8619852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 113 (L113F)
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: L113F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: L113F

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 possibly damaging
Transcript: ENSMUST00000123187
AA Change: L113F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: L113F

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 damaging
Transcript: ENSMUST00000135574
AA Change: L113F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: L113F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik C T 10: 29,101,349 (GRCm39) T574I possibly damaging Het
Aadac T G 3: 59,945,882 (GRCm39) V184G probably damaging Het
Adam6b G A 12: 113,454,272 (GRCm39) C363Y probably damaging Het
Adamts8 T A 9: 30,862,569 (GRCm39) I258N probably damaging Het
Aff4 A G 11: 53,302,824 (GRCm39) N1099S probably damaging Het
Alg10b G T 15: 90,108,728 (GRCm39) A30S possibly damaging Het
Als2 T A 1: 59,209,601 (GRCm39) E1460D probably benign Het
Ascc3 C T 10: 50,608,801 (GRCm39) R1515* probably null Het
Asxl2 C T 12: 3,546,508 (GRCm39) P431S probably benign Het
AU018091 A T 7: 3,213,785 (GRCm39) V153D probably damaging Het
Cd177 A G 7: 24,459,169 (GRCm39) V80A probably benign Het
Cdc16 G T 8: 13,807,693 (GRCm39) probably benign Het
Cdk14 A G 5: 5,316,012 (GRCm39) S4P probably benign Het
Ctu2 A T 8: 123,202,989 (GRCm39) Y8F probably benign Het
Dnhd1 T C 7: 105,342,537 (GRCm39) F1294L probably damaging Het
Epha7 A G 4: 28,817,457 (GRCm39) D37G probably damaging Het
Fan1 T A 7: 64,022,278 (GRCm39) N325I probably benign Het
Fbn1 T A 2: 125,158,941 (GRCm39) M2275L probably benign Het
Fbxo38 T C 18: 62,674,055 (GRCm39) K9E possibly damaging Het
Gm3696 T C 14: 18,435,140 (GRCm39) N48S possibly damaging Het
Greb1l A G 18: 10,538,233 (GRCm39) E1082G possibly damaging Het
Gtdc1 A T 2: 44,715,386 (GRCm39) N52K probably benign Het
Hrh2 C T 13: 54,375,241 (GRCm39) T359I probably benign Het
Ifi44l A G 3: 151,468,419 (GRCm39) V37A Het
Igfn1 C A 1: 135,897,611 (GRCm39) W985L probably benign Het
Il22b A G 10: 118,130,081 (GRCm39) S108P probably benign Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kcnv1 T C 15: 44,977,987 (GRCm39) D17G unknown Het
Klk1 T C 7: 43,877,965 (GRCm39) W74R possibly damaging Het
Lmntd2 A T 7: 140,793,597 (GRCm39) N96K possibly damaging Het
Lrch4 A G 5: 137,635,269 (GRCm39) H253R probably damaging Het
Lrrc8d A T 5: 105,959,917 (GRCm39) D109V probably benign Het
Magi3 T C 3: 103,928,291 (GRCm39) T1004A probably benign Het
Mapk10 A G 5: 103,135,101 (GRCm39) V287A possibly damaging Het
Mtss2 G A 8: 111,456,753 (GRCm39) probably null Het
Mybpc1 T C 10: 88,406,497 (GRCm39) I116V possibly damaging Het
Mylk4 T A 13: 32,900,643 (GRCm39) M296L probably damaging Het
Nav3 A G 10: 109,527,969 (GRCm39) F2238S probably damaging Het
Or11g26 G T 14: 50,753,229 (GRCm39) L189F probably damaging Het
Pax6 T C 2: 105,522,541 (GRCm39) F243L probably damaging Het
Pcdhb22 G A 18: 37,652,404 (GRCm39) E34K possibly damaging Het
Pdzrn4 T A 15: 92,578,353 (GRCm39) F359I possibly damaging Het
Prkn A T 17: 11,456,554 (GRCm39) D126V possibly damaging Het
Rnf168 C T 16: 32,117,872 (GRCm39) R478C probably damaging Het
Sh3gl2 G A 4: 85,295,765 (GRCm39) V156I possibly damaging Het
Taf2 A T 15: 54,910,832 (GRCm39) M614K probably damaging Het
Tbc1d31 G A 15: 57,833,179 (GRCm39) V973M probably damaging Het
Tmem131l T G 3: 83,829,402 (GRCm39) K1085T probably damaging Het
Tpst1 A G 5: 130,163,300 (GRCm39) T366A probably benign Het
Unc50 A G 1: 37,471,679 (GRCm39) T110A probably benign Het
Vmn2r60 A G 7: 41,785,172 (GRCm39) H128R probably benign Het
Vps13a A T 19: 16,631,828 (GRCm39) N2602K probably benign Het
Vps13d A G 4: 144,854,505 (GRCm39) probably null Het
Vps50 A G 6: 3,562,300 (GRCm39) E465G probably 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
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
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
Z1177:Adarb2 UTSW 13 8,620,236 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCTCTGGGTCATGACTAATTTG -3'
(R):5'- CTTCAGGGCCATTTCTGCTG -3'

Sequencing Primer
(F):5'- GGGTCATGACTAATTTGTTCTCAC -3'
(R):5'- CTTCTTAGTGGGCCCCGTG -3'
Posted On 2022-11-14