Incidental Mutation 'R5096:Adar'
ID 388028
Institutional Source Beutler Lab
Gene Symbol Adar
Ensembl Gene ENSMUSG00000027951
Gene Name adenosine deaminase, RNA-specific
Synonyms mZaADAR, ADAR1, Adar1p150, Adar1p110
MMRRC Submission 042685-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5096 (G1)
Quality Score 216
Status Validated
Chromosome 3
Chromosomal Location 89622329-89660753 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 89654598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Cysteine at position 728 (*728C)
Ref Sequence ENSEMBL: ENSMUSP00000143441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029563] [ENSMUST00000098924] [ENSMUST00000107405] [ENSMUST00000118341] [ENSMUST00000121094] [ENSMUST00000200558]
AlphaFold Q99MU3
Predicted Effect probably damaging
Transcript: ENSMUST00000029563
AA Change: I884N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: I884N

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 possibly damaging
Transcript: ENSMUST00000098924
AA Change: I662N

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: I662N

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 damaging
Transcript: ENSMUST00000107405
AA Change: I910N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: I910N

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 damaging
Transcript: ENSMUST00000118341
AA Change: I392N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: I392N

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 damaging
Transcript: ENSMUST00000121094
AA Change: I366N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: I366N

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 noncoding transcript
Transcript: ENSMUST00000131030
Predicted Effect probably null
Transcript: ENSMUST00000200558
AA Change: *728C
SMART Domains Protein: ENSMUSP00000143441
Gene: ENSMUSG00000027950
AA Change: *728C

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 95% (61/64)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,916,679 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,616,357 (GRCm39) R753G unknown Het
Atp9b C T 18: 80,805,399 (GRCm39) V720I probably benign Het
AY358078 A C 14: 52,063,575 (GRCm39) D407A probably benign Het
Ccdc185 A G 1: 182,576,354 (GRCm39) S112P possibly damaging Het
Cir1 A G 2: 73,134,105 (GRCm39) S155P probably damaging Het
Colq C T 14: 31,274,911 (GRCm39) E76K possibly damaging Het
Cthrc1 T A 15: 38,947,815 (GRCm39) I104N probably damaging Het
D930020B18Rik A T 10: 121,503,709 (GRCm39) I92L probably benign Het
Eif3i C T 4: 129,494,237 (GRCm39) E21K probably damaging Het
Fam114a1 T A 5: 65,137,234 (GRCm39) M59K probably benign Het
Fam163b A G 2: 27,002,761 (GRCm39) S79P probably benign Het
Fam181b T G 7: 92,730,452 (GRCm39) probably benign Het
Fsip2 G A 2: 82,821,460 (GRCm39) S5731N probably benign Het
Fzd9 C T 5: 135,278,713 (GRCm39) V391I probably damaging Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm10715 T C 9: 3,038,157 (GRCm39) probably benign Het
Grhl1 A T 12: 24,653,049 (GRCm39) K418M probably damaging Het
H2-Q4 T A 17: 35,598,689 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,486,420 (GRCm39) A4329S probably damaging Het
Hspa8 T C 9: 40,714,197 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,313 (GRCm39) T26A possibly damaging Het
Ifi209 T A 1: 173,472,300 (GRCm39) N380K probably benign Het
Inpp5e G T 2: 26,289,537 (GRCm39) N482K probably damaging Het
Iqsec3 C T 6: 121,363,657 (GRCm39) V866M probably damaging Het
Kbtbd2 A G 6: 56,756,260 (GRCm39) V492A probably benign Het
Kcnb2 A G 1: 15,781,068 (GRCm39) R647G probably benign Het
Lcmt1 T G 7: 123,000,691 (GRCm39) V75G probably damaging Het
Lrp4 A G 2: 91,316,137 (GRCm39) I752V possibly damaging Het
Mmp17 C A 5: 129,682,627 (GRCm39) P422Q probably damaging Het
Myo3a A T 2: 22,464,254 (GRCm39) H165L probably benign Het
Nos3 C T 5: 24,576,955 (GRCm39) T494I probably damaging Het
Or1ak2 T C 2: 36,827,815 (GRCm39) V228A possibly damaging Het
Or4p22 C T 2: 88,317,646 (GRCm39) T190I possibly damaging Het
Or51q1c T C 7: 103,652,667 (GRCm39) Y68H probably benign Het
Or8u8 A G 2: 86,012,276 (GRCm39) Y60H probably damaging Het
Pkn2 A C 3: 142,545,092 (GRCm39) V27G probably damaging Het
Scube2 T C 7: 109,398,451 (GRCm39) probably benign Het
Skint7 A G 4: 111,839,152 (GRCm39) I149V probably damaging Het
Smc4 T A 3: 68,928,612 (GRCm39) I412K probably damaging Het
Snx19 T A 9: 30,340,082 (GRCm39) C407S probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Sytl2 T A 7: 90,025,290 (GRCm39) I426N possibly damaging Het
Tbce A T 13: 14,203,990 (GRCm39) probably benign Het
Tdpoz2 T C 3: 93,559,819 (GRCm39) E51G possibly damaging Het
Tmem221 A G 8: 72,011,353 (GRCm39) L34P probably damaging Het
Tmem92 T C 11: 94,669,862 (GRCm39) T90A probably benign Het
Tpr A G 1: 150,321,953 (GRCm39) D42G probably damaging Het
Wt1 A G 2: 104,973,470 (GRCm39) T237A probably 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
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
R6935:Adar UTSW 3 89,654,525 (GRCm39) missense probably benign 0.00
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'- ATGTACCGTGGAAGCCTTC -3'
(R):5'- CCATTTGCCATCAATGCCAAG -3'

Sequencing Primer
(F):5'- TTTCCTTGGCTCCAGCAGGG -3'
(R):5'- CCAAGGGCATTTTCTTAATCCTATG -3'
Posted On 2016-06-06