Incidental Mutation 'R6935:Adar'
ID 540236
Institutional Source Beutler Lab
Gene Symbol Adar
Ensembl Gene ENSMUSG00000027951
Gene Name adenosine deaminase, RNA-specific
Synonyms mZaADAR, ADAR1, Adar1p150, Adar1p110
MMRRC Submission 045008-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6935 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89622329-89660753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89654525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 368 (N368D)
Ref Sequence ENSEMBL: ENSMUSP00000113453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029563] [ENSMUST00000098924] [ENSMUST00000107405] [ENSMUST00000118341] [ENSMUST00000121094] [ENSMUST00000200558]
AlphaFold Q99MU3
Predicted Effect probably benign
Transcript: ENSMUST00000029563
AA Change: N860D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: N860D

DomainStartEndE-ValueType
Zalpha 134 203 8.97e-30 SMART
Zalpha 244 312 7.69e-29 SMART
low complexity region 322 337 N/A INTRINSIC
low complexity region 347 359 N/A INTRINSIC
DSRM 457 523 3.6e-21 SMART
DSRM 568 634 4.36e-20 SMART
DSRM 676 742 1.58e-17 SMART
ADEAMc 762 1145 3.74e-205 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098924
AA Change: N638D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: N638D

DomainStartEndE-ValueType
Zalpha 1 64 3.1e-24 SMART
low complexity region 74 89 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
DSRM 209 275 3.6e-21 SMART
DSRM 320 386 4.36e-20 SMART
DSRM 428 494 1.58e-17 SMART
low complexity region 515 526 N/A INTRINSIC
ADEAMc 540 923 3.74e-205 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107405
AA Change: N886D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: N886D

DomainStartEndE-ValueType
Zalpha 134 203 8.97e-30 SMART
Zalpha 244 312 7.69e-29 SMART
low complexity region 322 337 N/A INTRINSIC
low complexity region 347 359 N/A INTRINSIC
DSRM 457 523 3.6e-21 SMART
DSRM 568 634 4.36e-20 SMART
DSRM 676 742 1.58e-17 SMART
low complexity region 763 774 N/A INTRINSIC
ADEAMc 788 1171 3.74e-205 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118341
AA Change: N368D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: N368D

DomainStartEndE-ValueType
DSRM 50 116 4.36e-20 SMART
DSRM 158 224 1.58e-17 SMART
low complexity region 245 256 N/A INTRINSIC
ADEAMc 270 653 3.74e-205 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121094
AA Change: N342D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: N342D

DomainStartEndE-ValueType
DSRM 50 116 4.36e-20 SMART
DSRM 158 224 1.58e-17 SMART
ADEAMc 244 627 3.74e-205 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200558
SMART Domains Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Neur_chan_LBD 29 234 1.5e-71 PFAM
Pfam:Neur_chan_memb 241 454 4.8e-61 PFAM
low complexity region 657 666 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice die during gestation. Inactivation of this locus has been associated with increased apoptosis and, in some lines, defects in both primitive and definitive hematopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T A 14: 35,533,864 (GRCm39) H14L probably benign Het
Adcy10 T C 1: 165,334,204 (GRCm39) V71A probably benign Het
Ank1 C T 8: 23,598,247 (GRCm39) T755I probably damaging Het
Aoc1 A T 6: 48,885,161 (GRCm39) Y632F probably damaging Het
Bbc3 A G 7: 16,046,124 (GRCm39) D20G possibly damaging Het
Bche T G 3: 73,609,133 (GRCm39) I98L probably benign Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Col12a1 A G 9: 79,607,782 (GRCm39) Y349H possibly damaging Het
Crip2 T C 12: 113,104,213 (GRCm39) C8R probably damaging Het
Dhx58 T A 11: 100,589,232 (GRCm39) probably null Het
Dnah2 G A 11: 69,312,567 (GRCm39) R4333C probably damaging Het
Dnajb12 T C 10: 59,732,325 (GRCm39) probably null Het
Dzank1 T C 2: 144,318,014 (GRCm39) E718G possibly damaging Het
Erfl C A 7: 24,627,986 (GRCm39) G181V possibly damaging Het
Fbxo28 C T 1: 182,169,025 (GRCm39) G38R unknown Het
Foxb2 A G 19: 16,849,983 (GRCm39) F341S probably benign Het
Gabrb3 T A 7: 57,241,561 (GRCm39) I29N probably damaging Het
Gm7298 G A 6: 121,744,653 (GRCm39) R557H probably benign Het
Itih3 T A 14: 30,634,659 (GRCm39) Q116L possibly damaging Het
Lingo1 T C 9: 56,527,149 (GRCm39) Y480C probably damaging Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Mbd5 A G 2: 49,169,824 (GRCm39) Y113C probably damaging Het
Mcm3ap C T 10: 76,340,087 (GRCm39) P1453S possibly damaging Het
Mdn1 T G 4: 32,774,041 (GRCm39) F5551V possibly damaging Het
Myo16 T A 8: 10,619,820 (GRCm39) M1457K probably benign Het
Nbeal2 T A 9: 110,468,459 (GRCm39) E372V probably damaging Het
Ncam2 T A 16: 81,323,879 (GRCm39) S508T probably benign Het
Nebl A T 2: 17,353,637 (GRCm39) D971E probably damaging Het
Nlrp10 A T 7: 108,526,107 (GRCm39) M77K probably damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or2y1d A G 11: 49,321,825 (GRCm39) N174S probably damaging Het
Or52ad1 A T 7: 102,996,002 (GRCm39) N44K probably damaging Het
Or8c18 G T 9: 38,203,413 (GRCm39) M57I probably benign Het
Pidd1 A T 7: 141,020,215 (GRCm39) D570E probably damaging Het
Ppfia3 T C 7: 45,001,631 (GRCm39) D427G possibly damaging Het
Prex1 T C 2: 166,441,575 (GRCm39) Y364C probably damaging Het
Prlr A G 15: 10,319,388 (GRCm39) S142G probably damaging Het
Rack1 T C 11: 48,694,322 (GRCm39) V174A probably damaging Het
Rhbdl3 C T 11: 80,228,322 (GRCm39) A264V probably damaging Het
Sh3bp5 T A 14: 31,101,473 (GRCm39) M170L probably damaging Het
Skint5 A T 4: 113,799,793 (GRCm39) F125L possibly damaging Het
Slc6a4 T C 11: 76,917,994 (GRCm39) Y579H probably benign Het
Tmem106b A T 6: 13,081,554 (GRCm39) T154S possibly damaging Het
Xrcc5 A G 1: 72,382,189 (GRCm39) D455G possibly damaging Het
Other mutations in Adar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Adar APN 3 89,638,147 (GRCm39) critical splice donor site probably null
IGL01743:Adar APN 3 89,652,747 (GRCm39) nonsense probably null
IGL01982:Adar APN 3 89,645,397 (GRCm39) missense probably benign 0.03
Derrick UTSW 3 89,643,474 (GRCm39) missense probably damaging 1.00
Hellfire UTSW 3 89,654,882 (GRCm39) missense probably damaging 1.00
logimen UTSW 3 89,638,121 (GRCm39) missense probably benign 0.04
red UTSW 3 89,657,958 (GRCm39) missense probably damaging 1.00
R0153:Adar UTSW 3 89,638,121 (GRCm39) missense probably benign 0.04
R0464:Adar UTSW 3 89,642,889 (GRCm39) missense possibly damaging 0.90
R0674:Adar UTSW 3 89,657,130 (GRCm39) intron probably benign
R0762:Adar UTSW 3 89,647,290 (GRCm39) splice site probably benign
R1567:Adar UTSW 3 89,643,088 (GRCm39) missense probably benign 0.19
R1807:Adar UTSW 3 89,642,172 (GRCm39) missense probably benign 0.00
R1858:Adar UTSW 3 89,646,589 (GRCm39) missense probably benign 0.01
R1964:Adar UTSW 3 89,653,202 (GRCm39) missense probably benign 0.23
R2440:Adar UTSW 3 89,642,161 (GRCm39) missense possibly damaging 0.86
R3731:Adar UTSW 3 89,653,962 (GRCm39) missense probably damaging 0.99
R3854:Adar UTSW 3 89,643,565 (GRCm39) missense probably damaging 1.00
R4005:Adar UTSW 3 89,657,094 (GRCm39) missense probably damaging 1.00
R4105:Adar UTSW 3 89,647,401 (GRCm39) missense probably benign 0.00
R4693:Adar UTSW 3 89,643,247 (GRCm39) missense probably damaging 1.00
R4980:Adar UTSW 3 89,638,121 (GRCm39) missense probably benign 0.04
R5096:Adar UTSW 3 89,654,598 (GRCm39) makesense probably null
R5199:Adar UTSW 3 89,653,251 (GRCm39) missense probably damaging 1.00
R5397:Adar UTSW 3 89,642,626 (GRCm39) missense probably benign
R5406:Adar UTSW 3 89,643,418 (GRCm39) missense probably damaging 1.00
R5411:Adar UTSW 3 89,646,519 (GRCm39) missense probably benign 0.39
R5446:Adar UTSW 3 89,647,486 (GRCm39) missense probably damaging 1.00
R5660:Adar UTSW 3 89,642,901 (GRCm39) missense probably damaging 1.00
R5724:Adar UTSW 3 89,642,476 (GRCm39) missense probably benign
R6087:Adar UTSW 3 89,652,897 (GRCm39) missense probably benign 0.05
R7644:Adar UTSW 3 89,652,826 (GRCm39) missense probably benign 0.00
R7893:Adar UTSW 3 89,657,958 (GRCm39) missense probably damaging 1.00
R8018:Adar UTSW 3 89,654,882 (GRCm39) missense probably damaging 1.00
R8053:Adar UTSW 3 89,654,592 (GRCm39) missense probably damaging 1.00
R8353:Adar UTSW 3 89,657,569 (GRCm39) missense possibly damaging 0.92
R8424:Adar UTSW 3 89,643,301 (GRCm39) missense probably damaging 1.00
R8466:Adar UTSW 3 89,658,466 (GRCm39) missense probably damaging 1.00
R8694:Adar UTSW 3 89,642,950 (GRCm39) missense probably damaging 1.00
R8791:Adar UTSW 3 89,643,445 (GRCm39) missense probably benign 0.08
R8960:Adar UTSW 3 89,647,516 (GRCm39) missense probably damaging 1.00
R9022:Adar UTSW 3 89,643,045 (GRCm39) missense probably benign 0.13
R9108:Adar UTSW 3 89,643,474 (GRCm39) missense probably damaging 1.00
R9320:Adar UTSW 3 89,658,368 (GRCm39) nonsense probably null
R9599:Adar UTSW 3 89,654,516 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- AGGTCTCCTGTAGGGAACTTC -3'
(R):5'- AGGGATGCCTTTGCCATCTG -3'

Sequencing Primer
(F):5'- TCTTCCTCCTGACAAGCTGAAAG -3'
(R):5'- ATCTGGGCATGCACCTCAGAC -3'
Posted On 2018-11-06