Incidental Mutation 'R5232:Adarb2'
ID 398635
Institutional Source Beutler Lab
Gene Symbol Adarb2
Ensembl Gene ENSMUSG00000052551
Gene Name adenosine deaminase, RNA-specific, B2
Synonyms RED2, Adar3
MMRRC Submission 042804-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5232 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 8252902-8818783 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8763676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 524 (H524Q)
Ref Sequence ENSEMBL: ENSMUSP00000115148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064473] [ENSMUST00000123187] [ENSMUST00000135574]
AlphaFold Q9JI20
Predicted Effect possibly damaging
Transcript: ENSMUST00000064473
AA Change: H524Q

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: H524Q

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: H524Q

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: H524Q

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 possibly damaging
Transcript: ENSMUST00000135574
AA Change: H524Q

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: H524Q

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,157,672 (GRCm39) E1295G probably damaging Het
Arhgap26 A G 18: 39,126,529 (GRCm39) M1V probably null Het
Atp10b G A 11: 43,093,006 (GRCm39) R447H probably damaging Het
B4galnt3 T A 6: 120,209,949 (GRCm39) Y58F probably damaging Het
Cdca7l A G 12: 117,833,820 (GRCm39) E79G probably damaging Het
Chd4 C G 6: 125,098,273 (GRCm39) P350A probably damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Cubn A T 2: 13,483,013 (GRCm39) C244* probably null Het
Cyfip2 A G 11: 46,133,205 (GRCm39) S832P probably damaging Het
Dnaaf1 A C 8: 120,317,329 (GRCm39) E286A probably benign Het
Emilin1 A G 5: 31,074,323 (GRCm39) K188R probably benign Het
Fstl5 T C 3: 76,052,284 (GRCm39) W5R possibly damaging Het
Gm5565 T A 5: 146,096,947 (GRCm39) Y64F possibly damaging Het
Golga4 G A 9: 118,335,626 (GRCm39) probably null Het
Hmcn2 T C 2: 31,347,760 (GRCm39) L4802P probably damaging Het
Hnrnpll C T 17: 80,346,107 (GRCm39) V385I probably damaging Het
Kctd9 A T 14: 67,962,110 (GRCm39) D51V probably damaging Het
Lcn9 T C 2: 25,714,067 (GRCm39) probably null Het
Map1a C A 2: 121,132,466 (GRCm39) P856H probably damaging Het
Myo5b G C 18: 74,848,003 (GRCm39) E1080D probably damaging Het
Naglu T C 11: 100,960,976 (GRCm39) I9T probably benign Het
Ndst3 A T 3: 123,465,888 (GRCm39) I28N probably damaging Het
Olfm4 A G 14: 80,259,122 (GRCm39) N424D probably damaging Het
Or11g26 T A 14: 50,753,495 (GRCm39) V278E probably damaging Het
Or4n5 A G 14: 50,133,155 (GRCm39) Y35H probably damaging Het
Phf13 T C 4: 152,076,680 (GRCm39) T171A probably damaging Het
Plk3 A G 4: 116,986,317 (GRCm39) V605A probably benign Het
Polr3a A T 14: 24,503,279 (GRCm39) M1185K probably benign Het
Pramel7 A T 2: 87,320,320 (GRCm39) H324Q probably damaging Het
Prpf4b T A 13: 35,067,573 (GRCm39) probably benign Het
Pxdn C T 12: 30,040,987 (GRCm39) T421I probably benign Het
Sertad2 C T 11: 20,598,344 (GRCm39) T180I possibly damaging Het
Sgo2b C A 8: 64,381,636 (GRCm39) A399S possibly damaging Het
Skint5 T C 4: 113,434,841 (GRCm39) K1043E unknown Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
Spock3 T C 8: 63,798,843 (GRCm39) F288S probably damaging Het
Srgap1 T C 10: 121,676,816 (GRCm39) I393V probably benign Het
Taf6 T C 5: 138,178,214 (GRCm39) K429R possibly damaging Het
Vav1 T C 17: 57,610,846 (GRCm39) F447L possibly damaging Het
Vmn2r19 T C 6: 123,312,916 (GRCm39) M662T probably benign Het
Zfp541 A G 7: 15,829,104 (GRCm39) Y1152C 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
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'- GGCTCAAATCTGCAGCTCAG -3'
(R):5'- CCTGTTGGTGTCCATAGCTG -3'

Sequencing Primer
(F):5'- GCAGCTCAGATCTTAACCATGTTG -3'
(R):5'- GTGTCCATAGCTGATCTTTGAAAGAG -3'
Posted On 2016-07-06