Incidental Mutation 'R9716:Adarb1'
ID 730467
Institutional Source Beutler Lab
Gene Symbol Adarb1
Ensembl Gene ENSMUSG00000020262
Gene Name adenosine deaminase, RNA-specific, B1
Synonyms RED1, D10Bwg0447e, ADAR2, 1700057H01Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9716 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77290726-77418270 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77295705 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 650 (H650L)
Ref Sequence ENSEMBL: ENSMUSP00000095976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020496] [ENSMUST00000098374] [ENSMUST00000105404] [ENSMUST00000105406] [ENSMUST00000126073] [ENSMUST00000144547]
AlphaFold Q91ZS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000020496
AA Change: H640L

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: H640L

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 possibly damaging
Transcript: ENSMUST00000098374
AA Change: H650L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: H650L

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 possibly damaging
Transcript: ENSMUST00000105406
AA Change: H650L

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: H650L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 24,714,258 K178I possibly damaging Het
Alms1 G T 6: 85,601,252 L187F possibly damaging Het
Ano3 T A 2: 110,771,031 N294I probably damaging Het
Asb3 T A 11: 31,081,460 M360K probably benign Het
Atp6v0d2 T C 4: 19,890,834 I109V probably benign Het
C9 A T 15: 6,496,949 probably null Het
Calcr A T 6: 3,687,468 I510N probably benign Het
Cdc5l G A 17: 45,433,574 probably benign Het
Cdca3 T A 6: 124,832,209 I104N probably benign Het
Chpt1 C T 10: 88,503,584 probably null Het
Chrna5 A G 9: 55,004,635 I240V probably benign Het
Dhx29 T C 13: 112,945,078 V412A possibly damaging Het
Dnah11 T A 12: 118,060,413 M1868L probably damaging Het
Dock6 A G 9: 21,831,122 V269A probably benign Het
Eif4b T C 15: 102,082,008 S16P probably benign Het
Eppk1 G A 15: 76,110,326 T785I probably benign Het
Ezh2 T C 6: 47,554,207 Y181C possibly damaging Het
Fam71e1 A T 7: 44,500,981 E199V probably damaging Het
Fem1c T C 18: 46,524,494 Y51C probably damaging Het
Glt8d2 T C 10: 82,660,810 N138S probably damaging Het
Gltp A G 5: 114,670,409 *210Q probably null Het
Gm10318 T A 10: 77,853,268 V123D unknown Het
Gm5134 C T 10: 75,986,109 T259I probably benign Het
Gm6526 T A 14: 43,750,852 C187S probably benign Het
Golga2 T A 2: 32,299,275 S273T probably damaging Het
Gulo T C 14: 65,996,899 E238G probably benign Het
Htt G A 5: 34,854,675 V1565M probably damaging Het
Inpp5d A T 1: 87,697,469 D457V possibly damaging Het
Itpk1 C T 12: 102,606,088 probably null Het
Kif20a T C 18: 34,629,175 C414R possibly damaging Het
Klra3 T C 6: 130,323,639 I256V probably damaging Het
Klrb1a T C 6: 128,620,276 T60A probably benign Het
Kmt2d T C 15: 98,843,402 K4592E unknown Het
Lama3 T C 18: 12,450,403 C683R probably damaging Het
Lhcgr A G 17: 88,743,018 I360T probably damaging Het
Lmod2 G A 6: 24,604,183 V386I possibly damaging Het
Med29 T C 7: 28,386,883 I167V possibly damaging Het
Mis18bp1 T A 12: 65,158,563 probably benign Het
Mtus2 A G 5: 148,076,654 K86E possibly damaging Het
Ndst4 T A 3: 125,438,562 L260Q probably damaging Het
Neurod2 T C 11: 98,327,618 Y240C probably damaging Het
Nsd1 T C 13: 55,310,500 V2142A possibly damaging Het
Olfr1117-ps1 T A 2: 87,285,147 S286T probably damaging Het
Olfr357 C T 2: 36,997,278 A156V probably damaging Het
Olfr414 T A 1: 174,431,075 S216T probably benign Het
Olfr95 G T 17: 37,211,464 R130S possibly damaging Het
Pcm1 T A 8: 41,275,131 S542T probably damaging Het
Pde7a C T 3: 19,231,003 G340D probably benign Het
Phkb T G 8: 85,878,169 C68G probably null Het
Ppif A G 14: 25,695,497 T73A possibly damaging Het
Prkacb T C 3: 146,757,720 E79G probably damaging Het
Ptprz1 G T 6: 22,959,651 W49L probably damaging Het
Ring1 T C 17: 34,021,446 E386G possibly damaging Het
Rp1 A G 1: 4,142,610 probably null Het
Rrm2 T C 12: 24,710,447 Y177H probably damaging Het
Rsf1 CGGC CGGCGGCGGAGGC 7: 97,579,932 probably benign Het
Scn4b T A 9: 45,149,341 I180N probably damaging Het
Slc22a12 A G 19: 6,536,735 probably null Het
Spa17 C T 9: 37,607,625 A73T probably damaging Het
Ssh3 C T 19: 4,262,409 R636Q probably benign Het
Sugp2 C A 8: 70,259,720 T995K probably damaging Het
Sumo3 T A 10: 77,606,958 V4E unknown Het
Svil C A 18: 5,062,370 Q810K probably damaging Het
Tbr1 C T 2: 61,804,733 P9L probably benign Het
Tmem26 C T 10: 68,740,960 P78L probably damaging Het
Ttll9 A G 2: 152,976,216 H42R probably benign Het
Usb1 T C 8: 95,344,057 Y204H probably damaging Het
Vcpip1 A G 1: 9,745,723 Y812H probably benign Het
Vmn2r15 T C 5: 109,297,358 R67G possibly damaging Het
Wdr64 A T 1: 175,795,092 I802L probably benign Het
Xndc1 T C 7: 102,075,907 S100P probably damaging Het
Xpot T C 10: 121,611,487 I128V probably benign Het
Xrn1 C T 9: 96,045,579 S1472F possibly damaging Het
Zscan12 A T 13: 21,363,768 Y40F possibly 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
IGL02399:Adarb1 APN 10 77295754 missense probably benign 0.02
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
R9457:Adarb1 UTSW 10 77322148 missense possibly damaging 0.46
R9688:Adarb1 UTSW 10 77311265 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGAGGCTAAGGCTGTCAG -3'
(R):5'- TTCTTGGTTTCAGGCATCAGC -3'

Sequencing Primer
(F):5'- ACACCGGGGCAGCTCTTAG -3'
(R):5'- TGAGGTCATCAATGCCAC -3'
Posted On 2022-10-06