Incidental Mutation 'IGL02867:Adarb1'
ID 362373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adarb1
Ensembl Gene ENSMUSG00000020262
Gene Name adenosine deaminase, RNA-specific, B1
Synonyms RED1, D10Bwg0447e, ADAR2, 1700057H01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02867
Quality Score
Status
Chromosome 10
Chromosomal Location 77290726-77418270 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77313541 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 371 (V371I)
Ref Sequence ENSEMBL: ENSMUSP00000101046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020496] [ENSMUST00000098374] [ENSMUST00000105404] [ENSMUST00000105406] [ENSMUST00000126073] [ENSMUST00000144547]
AlphaFold Q91ZS8
Predicted Effect probably benign
Transcript: ENSMUST00000020496
AA Change: V371I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: V371I

DomainStartEndE-ValueType
DSRM 79 143 1.9e-22 SMART
low complexity region 192 213 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
DSRM 236 297 5.8e-21 SMART
ADEAMc 322 698 2.1e-196 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098374
AA Change: V371I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: V371I

DomainStartEndE-ValueType
DSRM 79 143 3.31e-20 SMART
low complexity region 192 213 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
DSRM 236 297 9.87e-19 SMART
ADEAMc 322 708 1.32e-191 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105404
Predicted Effect probably benign
Transcript: ENSMUST00000105406
AA Change: V371I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: V371I

DomainStartEndE-ValueType
DSRM 79 143 3.31e-20 SMART
low complexity region 192 213 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
DSRM 236 297 9.87e-19 SMART
ADEAMc 322 708 1.32e-191 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126073
Predicted Effect probably benign
Transcript: ENSMUST00000144547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154607
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a double-stranded-RNA-specific adenosine deaminase that is involved in editing pre-mRNAs by site-specific conversion of adenosine (A) to inosine (I). Substrates for this enzyme include ionotropic glutamate receptors (GluR2-6) and serotonin receptor (5HT2C). Studies in rodents have shown that this protein can modify its own pre-mRNA by A->I editing to create a novel acceptor splice site, alternative splicing to which results in down regulation of its protein expression. Additional splicing events result in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in progressive seizure susceptibility and death within 20 days of age. Mice homozygous for a conditional allele activated in neurons exhibit motor neuron degeneration, motor function abnormalities, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik C T 10: 82,283,820 S482N probably damaging Het
Abcf2 T A 5: 24,571,151 Y310F probably benign Het
Antxr2 G T 5: 97,977,650 H249Q probably benign Het
Arel1 A T 12: 84,934,323 N303K probably benign Het
Bloc1s6 T C 2: 122,742,684 Y60H probably damaging Het
Ccdc125 A T 13: 100,684,282 probably benign Het
Cxcl16 A T 11: 70,459,066 Y45N possibly damaging Het
Dnajb3 T A 1: 88,205,527 Q51L probably benign Het
Ear10 A G 14: 43,923,269 F34L probably damaging Het
Fgf11 A G 11: 69,799,672 S100P possibly damaging Het
Fpgs G A 2: 32,685,879 probably benign Het
Fyb A T 15: 6,580,046 Q33H probably damaging Het
Ints3 G T 3: 90,392,836 H925N probably damaging Het
Krt16 T C 11: 100,247,576 K249E probably damaging Het
Lrp2 A T 2: 69,552,450 S30R possibly damaging Het
Naa35 T C 13: 59,608,854 probably benign Het
Olfr381 A G 11: 73,485,991 Y278H probably damaging Het
Olfr743 A G 14: 50,533,513 I34V probably benign Het
Olfr971 A G 9: 39,840,237 M268V probably benign Het
Osbpl6 A G 2: 76,595,870 probably benign Het
Pramel6 A T 2: 87,510,392 Q356L probably damaging Het
Prima1 A G 12: 103,197,316 V132A probably benign Het
Psme1 A G 14: 55,579,926 probably benign Het
Rdh11 A G 12: 79,189,054 V40A possibly damaging Het
Rin1 C T 19: 5,053,170 R485C probably damaging Het
Rnf40 C A 7: 127,591,429 S255* probably null Het
Spata24 C A 18: 35,656,752 R194L probably benign Het
Tas1r1 A T 4: 152,028,278 S773T probably damaging Het
Trdv5 G T 14: 54,148,972 probably benign Het
Trpc3 A C 3: 36,640,701 D701E probably benign Het
Vim A G 2: 13,580,680 R424G probably damaging Het
Vmn1r216 A C 13: 23,099,479 T111P probably damaging Het
Zbtb26 A C 2: 37,436,249 N247K probably benign Het
Zfp629 T G 7: 127,610,031 probably benign Het
Other mutations in Adarb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Adarb1 APN 10 77322490 missense probably damaging 1.00
IGL01996:Adarb1 APN 10 77322217 missense probably damaging 1.00
IGL02173:Adarb1 APN 10 77321825 missense probably damaging 1.00
IGL02214:Adarb1 APN 10 77322301 missense probably damaging 0.99
IGL02399:Adarb1 APN 10 77295754 missense probably benign 0.02
IGL02699:Adarb1 APN 10 77322019 missense probably benign
IGL02889:Adarb1 APN 10 77313541 missense probably benign 0.01
IGL03133:Adarb1 APN 10 77325896 start gained probably benign
R1806:Adarb1 UTSW 10 77322265 missense probably damaging 0.98
R1834:Adarb1 UTSW 10 77317231 splice site probably benign
R2174:Adarb1 UTSW 10 77295798 missense probably benign 0.35
R2233:Adarb1 UTSW 10 77317349 missense probably damaging 1.00
R2234:Adarb1 UTSW 10 77317349 missense probably damaging 1.00
R2908:Adarb1 UTSW 10 77313403 critical splice donor site probably null
R3106:Adarb1 UTSW 10 77321757 missense probably damaging 1.00
R5104:Adarb1 UTSW 10 77322287 missense probably damaging 1.00
R5134:Adarb1 UTSW 10 77325845 intron probably benign
R5497:Adarb1 UTSW 10 77325889 missense probably damaging 0.96
R5869:Adarb1 UTSW 10 77325616 intron probably benign
R6168:Adarb1 UTSW 10 77322319 missense probably damaging 1.00
R7372:Adarb1 UTSW 10 77295878 critical splice acceptor site probably null
R7575:Adarb1 UTSW 10 77303295 missense probably damaging 0.99
R7885:Adarb1 UTSW 10 77295708 missense possibly damaging 0.50
R9227:Adarb1 UTSW 10 77321792 missense probably damaging 1.00
R9230:Adarb1 UTSW 10 77321792 missense probably damaging 1.00
R9350:Adarb1 UTSW 10 77322433 missense possibly damaging 0.91
Posted On 2015-12-18