Incidental Mutation 'R1806:Adarb1'
ID 203477
Institutional Source Beutler Lab
Gene Symbol Adarb1
Ensembl Gene ENSMUSG00000020262
Gene Name adenosine deaminase, RNA-specific, B1
Synonyms 1700057H01Rik, RED1, D10Bwg0447e, ADAR2
MMRRC Submission 039835-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1806 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 77126560-77254104 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77158099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 116 (N116S)
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: N116S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: N116S

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: N116S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: N116S

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: N116S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: N116S

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: ENSMUST00000150512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154607
Meta Mutation Damage Score 0.5294 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.2%
Validation Efficiency 96% (77/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,571 (GRCm39) L348P probably damaging Het
Adamts15 C A 9: 30,816,111 (GRCm39) C616F probably damaging Het
Add2 C T 6: 86,095,639 (GRCm39) S437L probably damaging Het
Adra1d T A 2: 131,388,069 (GRCm39) R495S probably benign Het
Agk C T 6: 40,364,429 (GRCm39) T309I probably damaging Het
Aqr T C 2: 113,992,133 (GRCm39) Y81C probably damaging Het
Bak1 G A 17: 27,240,242 (GRCm39) Q142* probably null Het
Bckdha A G 7: 25,330,845 (GRCm39) V307A probably damaging Het
Camk2n2 C A 16: 20,438,948 (GRCm39) G72V probably benign Het
Cd276 A T 9: 58,434,845 (GRCm39) probably benign Het
Cd2ap G A 17: 43,149,649 (GRCm39) Q122* probably null Het
Cdan1 T A 2: 120,561,907 (GRCm39) probably benign Het
Cdh3 T C 8: 107,263,547 (GRCm39) S156P probably benign Het
Chil4 T A 3: 106,117,959 (GRCm39) probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Fcrlb T C 1: 170,735,096 (GRCm39) T344A probably benign Het
Fras1 T A 5: 96,861,829 (GRCm39) probably benign Het
Fras1 G T 5: 96,912,835 (GRCm39) V3380F possibly damaging Het
Galnt9 A G 5: 110,767,119 (GRCm39) D530G possibly damaging Het
Gja10 A T 4: 32,601,135 (GRCm39) S416R probably benign Het
Gm10549 T A 18: 33,603,841 (GRCm39) V108E unknown Het
Hook3 A T 8: 26,558,687 (GRCm39) L59Q probably damaging Het
Hpf1 T A 8: 61,353,154 (GRCm39) D178E probably benign Het
Hsd17b7 T C 1: 169,788,698 (GRCm39) N173S possibly damaging Het
Hsph1 A G 5: 149,553,454 (GRCm39) F236L probably damaging Het
Kcnk12 G T 17: 88,053,537 (GRCm39) T375K probably benign Het
Klra3 A T 6: 130,304,033 (GRCm39) S220T probably damaging Het
Lhx1 A T 11: 84,414,967 (GRCm39) L12Q probably damaging Het
Lnx1 A G 5: 74,766,710 (GRCm39) L468P probably damaging Het
Ltbp3 T A 19: 5,803,970 (GRCm39) C827* probably null Het
Mical1 C T 10: 41,354,210 (GRCm39) A53V probably damaging Het
Mmp10 A T 9: 7,506,502 (GRCm39) H326L probably benign Het
Mpl A T 4: 118,300,729 (GRCm39) M600K possibly damaging Het
Muc5b T A 7: 141,419,230 (GRCm39) D4004E possibly damaging Het
Myo5b A T 18: 74,710,680 (GRCm39) H98L possibly damaging Het
Nbeal1 A G 1: 60,323,251 (GRCm39) T2110A probably damaging Het
Nedd4l C A 18: 65,345,862 (GRCm39) R825S probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or4k35 A T 2: 111,100,622 (GRCm39) I30N possibly damaging Het
Or52e19 T A 7: 102,959,432 (GRCm39) L168Q probably damaging Het
Or8k41 A T 2: 86,313,483 (GRCm39) I201N probably damaging Het
Otog A T 7: 45,940,361 (GRCm39) probably null Het
Parp2 T A 14: 51,056,836 (GRCm39) L320H probably damaging Het
Poglut3 T C 9: 53,307,150 (GRCm39) Y365H probably damaging Het
Pola2 C T 19: 5,993,250 (GRCm39) probably null Het
Poln A T 5: 34,264,494 (GRCm39) probably benign Het
Pomt1 T A 2: 32,131,680 (GRCm39) V123E probably damaging Het
Prom2 T C 2: 127,374,802 (GRCm39) Y578C probably damaging Het
Prss23 T C 7: 89,159,599 (GRCm39) T157A probably damaging Het
Sdk1 T A 5: 141,598,950 (GRCm39) V205E probably damaging Het
Sdk1 A G 5: 142,147,681 (GRCm39) K1771R probably benign Het
Sidt1 A T 16: 44,102,234 (GRCm39) S309T possibly damaging Het
Sirpa T A 2: 129,457,432 (GRCm39) F169I probably damaging Het
Slc8a1 T C 17: 81,955,916 (GRCm39) N374S probably damaging Het
Sp110 C T 1: 85,523,831 (GRCm39) probably null Het
Stard9 A G 2: 120,509,934 (GRCm39) probably null Het
Synpr A G 14: 13,563,082 (GRCm38) N105S probably damaging Het
Tbc1d16 T C 11: 119,046,927 (GRCm39) Y440C probably damaging Het
Trabd A G 15: 88,969,824 (GRCm39) I313V possibly damaging Het
Trappc10 T C 10: 78,046,610 (GRCm39) R430G probably damaging Het
Trim50 A G 5: 135,387,743 (GRCm39) E145G probably benign Het
Uba2 A T 7: 33,862,624 (GRCm39) F105I probably damaging Het
Uba3 A G 6: 97,176,230 (GRCm39) V92A possibly damaging Het
Uhmk1 T C 1: 170,038,628 (GRCm39) K153R probably damaging Het
Vmn2r3 T C 3: 64,194,810 (GRCm39) K8R possibly damaging Het
Vmn2r3 T A 3: 64,182,893 (GRCm39) M269L probably benign Het
Xpot G T 10: 121,443,543 (GRCm39) probably benign Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zfy1 T A Y: 725,620 (GRCm39) H715L possibly damaging Het
Zmym1 A C 4: 126,941,872 (GRCm39) L839V 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCCATTGAAGAGTGTGTCAGG -3'
(R):5'- AGGGTATTCCGCTCTCCAAC -3'

Sequencing Primer
(F):5'- TGTGTCAGGGAAGTCAGCC -3'
(R):5'- TGGTAGCACCAGCAGGAAGC -3'
Posted On 2014-06-23