Incidental Mutation 'IGL02699:Adarb1'
ID 304073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adarb1
Ensembl Gene ENSMUSG00000020262
Gene Name adenosine deaminase, RNA-specific, B1
Synonyms 1700057H01Rik, RED1, D10Bwg0447e, ADAR2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02699
Quality Score
Status
Chromosome 10
Chromosomal Location 77126560-77254104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77157853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 198 (D198G)
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: D198G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: D198G

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: D198G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: D198G

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: D198G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: D198G

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: ENSMUST00000146319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156583
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casq1 T C 1: 172,047,263 (GRCm39) probably benign Het
Cd109 T A 9: 78,579,271 (GRCm39) probably benign Het
Col15a1 T G 4: 47,284,471 (GRCm39) probably benign Het
Ctdp1 T C 18: 80,493,400 (GRCm39) D365G probably benign Het
Daam1 T C 12: 72,035,717 (GRCm39) F971L probably damaging Het
Dalrd3 T A 9: 108,448,088 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,139,105 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fbxo8 A G 8: 57,043,223 (GRCm39) T236A possibly damaging Het
Ighv1-12 C A 12: 114,579,736 (GRCm39) E29* probably null Het
Il17re A G 6: 113,445,880 (GRCm39) D397G probably damaging Het
Ing5 A G 1: 93,744,164 (GRCm39) N157D possibly damaging Het
Ipo11 T C 13: 107,025,905 (GRCm39) E395G possibly damaging Het
Letm1 T C 5: 33,902,492 (GRCm39) E599G possibly damaging Het
Mansc1 T C 6: 134,587,317 (GRCm39) T287A probably benign Het
Med1 T C 11: 98,070,851 (GRCm39) N131D possibly damaging Het
Or10ak13 G T 4: 118,639,349 (GRCm39) C144* probably null Het
Or13p3 T C 4: 118,567,395 (GRCm39) S264P probably benign Het
Or6c2b T G 10: 128,947,640 (GRCm39) Y218S probably benign Het
Or8k38 A T 2: 86,488,691 (GRCm39) I37N probably benign Het
Osm T C 11: 4,189,723 (GRCm39) V169A possibly damaging Het
Phkg2 C T 7: 127,181,722 (GRCm39) A278V probably benign Het
Plod2 T A 9: 92,489,195 (GRCm39) M709K probably damaging Het
Pzp A T 6: 128,464,364 (GRCm39) probably null Het
Ric1 T C 19: 29,499,957 (GRCm39) L12P possibly damaging Het
Skor1 C A 9: 63,047,328 (GRCm39) probably benign Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Syncrip A G 9: 88,338,607 (GRCm39) probably benign Het
Tex2 T C 11: 106,459,259 (GRCm39) E57G possibly damaging Het
Tmc1 C T 19: 20,809,714 (GRCm39) probably null Het
Tmem59 T C 4: 107,049,735 (GRCm39) M140T probably benign Het
Ttn T C 2: 76,774,433 (GRCm39) T2158A probably damaging Het
Other mutations in Adarb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Adarb1 APN 10 77,158,324 (GRCm39) missense probably damaging 1.00
IGL01996:Adarb1 APN 10 77,158,051 (GRCm39) missense probably damaging 1.00
IGL02173:Adarb1 APN 10 77,157,659 (GRCm39) missense probably damaging 1.00
IGL02214:Adarb1 APN 10 77,158,135 (GRCm39) missense probably damaging 0.99
IGL02399:Adarb1 APN 10 77,131,588 (GRCm39) missense probably benign 0.02
IGL02867:Adarb1 APN 10 77,149,375 (GRCm39) missense probably benign 0.01
IGL02889:Adarb1 APN 10 77,149,375 (GRCm39) missense probably benign 0.01
IGL03133:Adarb1 APN 10 77,161,730 (GRCm39) start gained probably benign
R1806:Adarb1 UTSW 10 77,158,099 (GRCm39) missense probably damaging 0.98
R1834:Adarb1 UTSW 10 77,153,065 (GRCm39) splice site probably benign
R2174:Adarb1 UTSW 10 77,131,632 (GRCm39) missense probably benign 0.35
R2233:Adarb1 UTSW 10 77,153,183 (GRCm39) missense probably damaging 1.00
R2234:Adarb1 UTSW 10 77,153,183 (GRCm39) missense probably damaging 1.00
R2908:Adarb1 UTSW 10 77,149,237 (GRCm39) critical splice donor site probably null
R3106:Adarb1 UTSW 10 77,157,591 (GRCm39) missense probably damaging 1.00
R5104:Adarb1 UTSW 10 77,158,121 (GRCm39) missense probably damaging 1.00
R5134:Adarb1 UTSW 10 77,161,679 (GRCm39) intron probably benign
R5497:Adarb1 UTSW 10 77,161,723 (GRCm39) missense probably damaging 0.96
R5869:Adarb1 UTSW 10 77,161,450 (GRCm39) intron probably benign
R6168:Adarb1 UTSW 10 77,158,153 (GRCm39) missense probably damaging 1.00
R7372:Adarb1 UTSW 10 77,131,712 (GRCm39) critical splice acceptor site probably null
R7575:Adarb1 UTSW 10 77,139,129 (GRCm39) missense probably damaging 0.99
R7885:Adarb1 UTSW 10 77,131,542 (GRCm39) missense possibly damaging 0.50
R9227:Adarb1 UTSW 10 77,157,626 (GRCm39) missense probably damaging 1.00
R9230:Adarb1 UTSW 10 77,157,626 (GRCm39) missense probably damaging 1.00
R9350:Adarb1 UTSW 10 77,158,267 (GRCm39) missense possibly damaging 0.91
R9457:Adarb1 UTSW 10 77,157,982 (GRCm39) missense possibly damaging 0.46
R9688:Adarb1 UTSW 10 77,147,099 (GRCm39) missense probably damaging 1.00
R9716:Adarb1 UTSW 10 77,131,539 (GRCm39) missense possibly damaging 0.70
Posted On 2015-04-16