Incidental Mutation 'IGL01337:Adarb2'
ID74665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adarb2
Ensembl Gene ENSMUSG00000052551
Gene Nameadenosine deaminase, RNA-specific, B2
SynonymsAdar3, RED2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01337
Quality Score
Status
Chromosome13
Chromosomal Location8202866-8768747 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8570246 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 256 (L256P)
Ref Sequence ENSEMBL: ENSMUSP00000115148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064473] [ENSMUST00000123187] [ENSMUST00000135574]
Predicted Effect probably benign
Transcript: ENSMUST00000064473
AA Change: L256P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000064775
Gene: ENSMUSG00000052551
AA Change: L256P

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 21 33 N/A INTRINSIC
DSRM 126 190 1.03e-16 SMART
DSRM 284 346 1.24e-15 SMART
ADEAMc 366 742 5.41e-211 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123187
AA Change: L256P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120757
Gene: ENSMUSG00000052551
AA Change: L256P

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 21 33 N/A INTRINSIC
DSRM 126 190 6.1e-19 SMART
DSRM 284 346 7.3e-18 SMART
ADEAMc 366 698 2e-164 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135574
AA Change: L256P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000115148
Gene: ENSMUSG00000052551
AA Change: L256P

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 21 33 N/A INTRINSIC
DSRM 126 190 1.03e-16 SMART
DSRM 284 346 1.24e-15 SMART
ADEAMc 366 742 5.41e-211 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,668,570 Y1025H probably damaging Het
Arsj A G 3: 126,365,114 Y114C probably damaging Het
Bdp1 G A 13: 100,056,192 P1378L probably benign Het
Clca2 T C 3: 145,095,178 Y138C probably damaging Het
Dsp G A 13: 38,192,687 D1483N probably benign Het
Etl4 T C 2: 20,785,387 S617P probably benign Het
Fbxo34 T C 14: 47,530,217 S345P probably benign Het
Gm5420 A G 10: 21,691,615 noncoding transcript Het
Gpr182 T A 10: 127,750,786 I99F possibly damaging Het
Hectd1 A G 12: 51,802,274 I349T possibly damaging Het
Kifc5b A G 17: 26,924,744 T497A possibly damaging Het
Mllt3 A C 4: 87,840,820 D330E probably damaging Het
Mpp3 T C 11: 102,000,585 T576A probably benign Het
Mroh2b A G 15: 4,905,024 M126V probably benign Het
Naalad2 T G 9: 18,327,373 D644A probably damaging Het
Olfr1247 A G 2: 89,609,376 I242T probably damaging Het
Otof C A 5: 30,405,777 A242S possibly damaging Het
Otof T C 5: 30,419,512 D132G probably benign Het
Pdk4 T A 6: 5,491,869 M68L probably benign Het
Ptprf A G 4: 118,236,291 Y385H probably damaging Het
Rxrb A G 17: 34,036,631 N254S probably damaging Het
Samd5 T A 10: 9,629,024 Y162F probably benign Het
Sapcd2 A G 2: 25,376,479 *392W probably null Het
Senp6 T C 9: 80,136,510 Y635H probably damaging Het
Serpine1 C A 5: 137,069,331 V163L probably damaging Het
Slc15a1 T C 14: 121,460,679 E678G possibly damaging Het
Slc22a16 T C 10: 40,595,314 F494L possibly damaging Het
Slc5a12 T A 2: 110,620,373 C304* probably null Het
Spink1 G A 18: 43,737,151 probably benign Het
Star G A 8: 25,809,864 G78E probably damaging Het
Stx1a T C 5: 135,045,664 I203T probably damaging Het
Tap2 A G 17: 34,205,412 probably benign Het
Trim75 T C 8: 64,983,735 D21G possibly damaging Het
Vmn1r62 T A 7: 5,676,145 I275N probably damaging Het
Other mutations in Adarb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Adarb2 APN 13 8701725 missense probably benign 0.00
IGL00910:Adarb2 APN 13 8672433 missense probably damaging 1.00
IGL01308:Adarb2 APN 13 8203293 missense possibly damaging 0.93
IGL01508:Adarb2 APN 13 8752570 splice site probably null
IGL01792:Adarb2 APN 13 8570149 missense probably damaging 1.00
IGL02387:Adarb2 APN 13 8569958 missense probably damaging 1.00
IGL02423:Adarb2 APN 13 8569720 missense probably damaging 0.99
R0304:Adarb2 UTSW 13 8752570 splice site probably benign
R0463:Adarb2 UTSW 13 8203188 start gained probably benign
R0646:Adarb2 UTSW 13 8731819 missense probably damaging 1.00
R0963:Adarb2 UTSW 13 8672415 missense probably damaging 1.00
R1066:Adarb2 UTSW 13 8757323 missense probably benign 0.14
R1451:Adarb2 UTSW 13 8339621 intron probably benign
R1656:Adarb2 UTSW 13 8203251 missense unknown
R1939:Adarb2 UTSW 13 8203322 critical splice donor site probably null
R2212:Adarb2 UTSW 13 8752618 missense probably damaging 1.00
R2484:Adarb2 UTSW 13 8569774 nonsense probably null
R2993:Adarb2 UTSW 13 8713716 missense probably benign 0.02
R3157:Adarb2 UTSW 13 8697633 missense probably benign 0.20
R3177:Adarb2 UTSW 13 8752627 missense probably damaging 1.00
R3277:Adarb2 UTSW 13 8752627 missense probably damaging 1.00
R3412:Adarb2 UTSW 13 8752618 missense probably damaging 1.00
R3949:Adarb2 UTSW 13 8570419 missense probably damaging 0.97
R4505:Adarb2 UTSW 13 8697691 missense probably damaging 1.00
R5232:Adarb2 UTSW 13 8713640 missense possibly damaging 0.80
R5831:Adarb2 UTSW 13 8559133 missense probably benign 0.45
R7113:Adarb2 UTSW 13 8731845 missense probably damaging 0.99
R7252:Adarb2 UTSW 13 8570180 missense probably benign 0.00
R7259:Adarb2 UTSW 13 8570252 missense probably benign
R7346:Adarb2 UTSW 13 8570384 missense probably damaging 1.00
R7422:Adarb2 UTSW 13 8757277 missense possibly damaging 0.83
R7724:Adarb2 UTSW 13 8570256 missense probably benign 0.34
R7733:Adarb2 UTSW 13 8752608 missense possibly damaging 0.82
R7749:Adarb2 UTSW 13 8569739 missense possibly damaging 0.96
Z1177:Adarb2 UTSW 13 8570200 missense probably benign 0.03
Posted On2013-10-07