Incidental Mutation 'IGL01308:Adarb2'
ID73528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adarb2
Ensembl Gene ENSMUSG00000052551
Gene Nameadenosine deaminase, RNA-specific, B2
SynonymsAdar3, RED2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01308
Quality Score
Status
Chromosome13
Chromosomal Location8202866-8768747 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8203293 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 25 (R25G)
Ref Sequence ENSEMBL: ENSMUSP00000115148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064473] [ENSMUST00000123187] [ENSMUST00000135574]
Predicted Effect possibly damaging
Transcript: ENSMUST00000064473
AA Change: R25G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: R25G

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: R25G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: R25G

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: R25G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: R25G

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 noncoding transcript
Transcript: ENSMUST00000139438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223223
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,099,249 D1256G probably damaging Het
Acot7 A T 4: 152,260,896 M308L probably benign Het
Ano1 C A 7: 144,595,498 Q875H probably damaging Het
Ano6 G A 15: 95,913,661 probably null Het
Ehbp1 G A 11: 22,138,022 P354L probably damaging Het
Eml5 T C 12: 98,802,313 H1454R probably damaging Het
Esyt1 T A 10: 128,519,791 N421Y possibly damaging Het
Gen1 T C 12: 11,256,870 T100A probably damaging Het
Gm11639 A T 11: 104,720,697 D455V probably benign Het
Gm15292 C T 8: 21,250,418 T80I probably damaging Het
Jak3 A T 8: 71,685,166 D780V probably damaging Het
Klrb1a A G 6: 128,618,045 probably benign Het
Lrp8 A G 4: 107,864,076 I826M probably benign Het
Mcmbp G A 7: 128,714,485 Q214* probably null Het
Mtmr7 A T 8: 40,597,345 Y136N probably damaging Het
Ndor1 A G 2: 25,250,139 Y88H probably benign Het
Nkx2-4 A G 2: 147,084,340 Y201H possibly damaging Het
Olfr411 A G 11: 74,346,660 L308P probably damaging Het
Olfr503 T A 7: 108,544,726 L65* probably null Het
Olfr774 A T 10: 129,238,607 T153S probably benign Het
Pigg T C 5: 108,336,477 L663P probably damaging Het
Pik3cd A G 4: 149,657,460 V343A probably damaging Het
Plekha4 A G 7: 45,538,235 S244G probably damaging Het
Prkce T A 17: 86,625,462 D623E probably damaging Het
Rasgrf2 A G 13: 92,022,917 probably benign Het
Rexo5 T C 7: 119,834,276 W419R probably damaging Het
Rnaseh2b A G 14: 62,365,257 probably null Het
Rras A G 7: 45,021,285 Y193C possibly damaging Het
Sall4 T C 2: 168,750,244 I997V probably damaging Het
Sec31b A G 19: 44,523,683 F591L probably benign Het
Skiv2l A G 17: 34,840,634 L232P probably benign Het
Slc13a3 A T 2: 165,406,780 I526N probably damaging Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Snrnp25 A G 11: 32,208,745 probably benign Het
Tex264 T C 9: 106,662,408 K201E possibly damaging Het
Tgfb1 G T 7: 25,688,017 R50L probably damaging Het
Tle4 A G 19: 14,468,261 V207A probably benign Het
Tmed1 A T 9: 21,510,042 C45* probably null Het
Tmem260 A G 14: 48,511,958 N638S probably damaging Het
Traf3ip3 T C 1: 193,184,891 E274G probably damaging Het
Trak1 T C 9: 121,443,736 probably null Het
Trim3 A T 7: 105,617,469 V502E probably damaging Het
Trmo C T 4: 46,377,053 probably benign Het
Xab2 C T 8: 3,616,332 R192Q probably benign Het
Other mutations in Adarb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Adarb2 APN 13 8701725 missense probably benign 0.00
IGL00910:Adarb2 APN 13 8672433 missense probably damaging 1.00
IGL01337:Adarb2 APN 13 8570246 missense probably benign 0.03
IGL01508:Adarb2 APN 13 8752570 splice site probably null
IGL01792:Adarb2 APN 13 8570149 missense probably damaging 1.00
IGL02387:Adarb2 APN 13 8569958 missense probably damaging 1.00
IGL02423:Adarb2 APN 13 8569720 missense probably damaging 0.99
R0304:Adarb2 UTSW 13 8752570 splice site probably benign
R0463:Adarb2 UTSW 13 8203188 start gained probably benign
R0646:Adarb2 UTSW 13 8731819 missense probably damaging 1.00
R0963:Adarb2 UTSW 13 8672415 missense probably damaging 1.00
R1066:Adarb2 UTSW 13 8757323 missense probably benign 0.14
R1451:Adarb2 UTSW 13 8339621 intron probably benign
R1656:Adarb2 UTSW 13 8203251 missense unknown
R1939:Adarb2 UTSW 13 8203322 critical splice donor site probably null
R2212:Adarb2 UTSW 13 8752618 missense probably damaging 1.00
R2484:Adarb2 UTSW 13 8569774 nonsense probably null
R2993:Adarb2 UTSW 13 8713716 missense probably benign 0.02
R3157:Adarb2 UTSW 13 8697633 missense probably benign 0.20
R3177:Adarb2 UTSW 13 8752627 missense probably damaging 1.00
R3277:Adarb2 UTSW 13 8752627 missense probably damaging 1.00
R3412:Adarb2 UTSW 13 8752618 missense probably damaging 1.00
R3949:Adarb2 UTSW 13 8570419 missense probably damaging 0.97
R4505:Adarb2 UTSW 13 8697691 missense probably damaging 1.00
R5232:Adarb2 UTSW 13 8713640 missense possibly damaging 0.80
R5831:Adarb2 UTSW 13 8559133 missense probably benign 0.45
R7113:Adarb2 UTSW 13 8731845 missense probably damaging 0.99
R7252:Adarb2 UTSW 13 8570180 missense probably benign 0.00
R7259:Adarb2 UTSW 13 8570252 missense probably benign
R7346:Adarb2 UTSW 13 8570384 missense probably damaging 1.00
R7422:Adarb2 UTSW 13 8757277 missense possibly damaging 0.83
R7724:Adarb2 UTSW 13 8570256 missense probably benign 0.34
R7733:Adarb2 UTSW 13 8752608 missense possibly damaging 0.82
R7749:Adarb2 UTSW 13 8569739 missense possibly damaging 0.96
Z1177:Adarb2 UTSW 13 8570200 missense probably benign 0.03
Posted On2013-10-07