Incidental Mutation 'IGL02399:Adarb1'
ID 291806
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 # IGL02399
Quality Score
Status
Chromosome 10
Chromosomal Location 77290726-77418270 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77295754 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 624 (P624S)
Ref Sequence ENSEMBL: ENSMUSP00000020496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020496] [ENSMUST00000098374] [ENSMUST00000105404] [ENSMUST00000105406] [ENSMUST00000126073] [ENSMUST00000144547]
AlphaFold Q91ZS8
PDB Structure Solution NMR structure of the R/G STEM LOOP RNA-ADAR2 DSRBM2 Complex [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000020496
AA Change: P624S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: P624S

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: P634S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: P634S

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: P634S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: P634S

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 C T 2: 150,858,493 probably benign Het
Afg3l2 A T 18: 67,429,040 F322I possibly damaging Het
Arhgap23 A G 11: 97,491,005 probably benign Het
Armc4 G T 18: 7,285,719 Q215K probably benign Het
Atp13a1 A G 8: 69,807,101 N1114S probably damaging Het
C3ar1 T C 6: 122,849,879 N460D probably benign Het
Cacna1e A G 1: 154,403,747 Y1988H probably damaging Het
Calr T C 8: 84,842,786 probably benign Het
D5Ertd579e A G 5: 36,616,185 S289P probably damaging Het
Erbb4 G A 1: 68,042,437 probably benign Het
Fam98a A G 17: 75,538,941 probably benign Het
Gm3739 A T 14: 7,299,405 D83E possibly damaging Het
Gm5420 A T 10: 21,691,172 noncoding transcript Het
Heatr5b A G 17: 78,827,967 V245A probably damaging Het
Kptn C A 7: 16,127,113 probably benign Het
Llgl2 T C 11: 115,844,835 C86R probably damaging Het
Lrr1 T A 12: 69,168,891 C12* probably null Het
Mcf2 T C X: 60,135,452 D255G probably damaging Het
Med13 A T 11: 86,283,945 probably benign Het
Mthfd1 C T 12: 76,317,632 T735M probably damaging Het
Nlrp2 C T 7: 5,328,810 A196T probably damaging Het
Nnmt T C 9: 48,603,538 I60V probably damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr522 A T 7: 140,162,600 S117T probably benign Het
P2rx3 T C 2: 85,023,227 I140V probably benign Het
Patj A G 4: 98,591,936 N1293D probably damaging Het
Pitpnm2 G A 5: 124,140,758 probably benign Het
Ppp1r26 T G 2: 28,453,280 V974G probably benign Het
Prrc2b T A 2: 32,226,961 L1376* probably null Het
Rab33a T A X: 48,519,707 I36N probably damaging Het
Rab3gap1 A T 1: 127,928,103 N493I possibly damaging Het
Scara3 C A 14: 65,933,110 G107* probably null Het
Siglec1 T C 2: 131,071,178 E1606G probably benign Het
Skint9 A T 4: 112,389,250 Y222N possibly damaging Het
Slc47a1 A T 11: 61,363,058 I185N probably damaging Het
Slc47a2 C A 11: 61,302,194 probably benign Het
Slc4a2 A G 5: 24,434,713 I506V probably damaging Het
Slc9a4 A C 1: 40,600,782 I245L probably benign Het
Smarcb1 T C 10: 75,897,494 T357A probably damaging Het
Spata31d1d A G 13: 59,730,140 probably benign Het
Stox2 T A 8: 47,186,538 I874F probably damaging Het
Taar7b A T 10: 24,000,152 I72F probably damaging Het
Tacc2 G A 7: 130,623,399 V605I probably benign Het
Tef T C 15: 81,815,100 L34P probably damaging Het
Trak2 A G 1: 58,910,045 V532A probably benign Het
Usp13 T A 3: 32,919,060 D795E probably damaging Het
Vmn1r32 T A 6: 66,552,929 I288F probably benign Het
Vmn1r75 T C 7: 11,881,166 I275T possibly damaging Het
Zfp871 A T 17: 32,774,355 F615L probably benign Het
Zfp941 G A 7: 140,812,699 T249M probably benign Het
Zhx1 T C 15: 58,053,741 I370V probably damaging 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
IGL02699:Adarb1 APN 10 77322019 missense probably benign
IGL02867:Adarb1 APN 10 77313541 missense probably benign 0.01
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 2015-04-16