Incidental Mutation 'IGL01996:Adarb1'
ID 182904
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 # IGL01996
Quality Score
Status
Chromosome 10
Chromosomal Location 77126560-77254104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77158051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 132 (L132P)
Ref Sequence ENSEMBL: ENSMUSP00000101046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020496] [ENSMUST00000098374] [ENSMUST00000105404] [ENSMUST00000105406] [ENSMUST00000126073] [ENSMUST00000144547]
AlphaFold Q91ZS8
Predicted Effect probably damaging
Transcript: ENSMUST00000020496
AA Change: L132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: L132P

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 damaging
Transcript: ENSMUST00000098374
AA Change: L132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: L132P

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 damaging
Transcript: ENSMUST00000105406
AA Change: L132P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: L132P

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: ENSMUST00000150227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146319
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,078,430 (GRCm39) V29A possibly damaging Het
Afg3l1 T G 8: 124,228,633 (GRCm39) M733R probably damaging Het
Aox1 C T 1: 58,121,225 (GRCm39) R899C probably benign Het
Arhgap44 T A 11: 64,896,322 (GRCm39) probably benign Het
Asns T C 6: 7,682,378 (GRCm39) D189G possibly damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Ccdc138 T A 10: 58,397,852 (GRCm39) L564H probably damaging Het
Ccdc167 A G 17: 29,924,461 (GRCm39) probably null Het
Ccdc178 A G 18: 22,230,813 (GRCm39) Y353H probably damaging Het
Clca3b A T 3: 144,554,924 (GRCm39) S41R probably benign Het
Dpep3 T C 8: 106,701,358 (GRCm39) N397S probably damaging Het
Eif1 T C 11: 100,211,826 (GRCm39) I83T probably benign Het
Enah A T 1: 181,784,070 (GRCm39) W80R unknown Het
F2rl1 C T 13: 95,650,432 (GRCm39) C150Y probably damaging Het
Fbxw24 T C 9: 109,434,440 (GRCm39) R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 (GRCm39) T68A probably benign Het
Greb1 T C 12: 16,740,846 (GRCm39) K1412R possibly damaging Het
Grin2b T C 6: 135,709,584 (GRCm39) S1321G probably damaging Het
H4c11 G A 13: 21,919,308 (GRCm39) G15S unknown Het
Itgb7 C T 15: 102,126,412 (GRCm39) G508D probably damaging Het
Kcnq3 A G 15: 65,895,545 (GRCm39) I333T probably damaging Het
Knl1 A G 2: 118,934,542 (GRCm39) D2115G probably damaging Het
Lmtk3 G A 7: 45,442,871 (GRCm39) probably null Het
Lrpprc A G 17: 85,080,698 (GRCm39) Y176H probably benign Het
Mier1 T C 4: 102,984,473 (GRCm39) S22P possibly damaging Het
Mme A T 3: 63,250,970 (GRCm39) N337I probably benign Het
Mthfd1 A G 12: 76,350,679 (GRCm39) Y687C probably damaging Het
Nrp2 T C 1: 62,788,419 (GRCm39) M373T probably damaging Het
Nudcd1 A T 15: 44,269,357 (GRCm39) F101Y probably benign Het
Nup133 T A 8: 124,673,334 (GRCm39) I66L probably benign Het
Or10j7 T C 1: 173,011,294 (GRCm39) T236A probably benign Het
Or11j4 T G 14: 50,631,116 (GRCm39) M301R probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Osbpl5 A G 7: 143,261,081 (GRCm39) probably null Het
Paqr8 T C 1: 21,005,628 (GRCm39) F261L probably damaging Het
Plxna2 A G 1: 194,482,084 (GRCm39) E1452G probably damaging Het
Polh T C 17: 46,483,927 (GRCm39) D446G probably benign Het
Psg19 A T 7: 18,523,986 (GRCm39) M353K possibly damaging Het
Sap25 T C 5: 137,640,080 (GRCm39) probably null Het
Sap30l C T 11: 57,700,777 (GRCm39) R144* probably null Het
Sema6b C T 17: 56,438,157 (GRCm39) V144M probably damaging Het
Sfmbt2 T C 2: 10,444,837 (GRCm39) Y228H probably benign Het
Shank2 A G 7: 143,965,230 (GRCm39) D946G probably damaging Het
Slc11a1 T A 1: 74,415,965 (GRCm39) L52Q possibly damaging Het
Sptlc3 T C 2: 139,423,424 (GRCm39) probably benign Het
Tgfb1i1 T C 7: 127,848,464 (GRCm39) probably benign Het
Tifa T C 3: 127,590,229 (GRCm39) probably benign Het
Tomm40l C T 1: 171,047,224 (GRCm39) V265M possibly damaging Het
Trim45 C A 3: 100,835,425 (GRCm39) Y469* probably null Het
Ttc21a G T 9: 119,787,182 (GRCm39) A730S probably damaging Het
Vmn1r18 A T 6: 57,367,001 (GRCm39) D184E possibly damaging Het
Vmn2r120 A T 17: 57,832,222 (GRCm39) I189N possibly damaging Het
Other mutations in Adarb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Adarb1 APN 10 77,158,324 (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
IGL02699:Adarb1 APN 10 77,157,853 (GRCm39) missense probably benign
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 2014-05-07