Incidental Mutation 'R1807:Adar'
ID 203512
Institutional Source Beutler Lab
Gene Symbol Adar
Ensembl Gene ENSMUSG00000027951
Gene Name adenosine deaminase, RNA-specific
Synonyms mZaADAR, ADAR1, Adar1p150, Adar1p110
MMRRC Submission 039836-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1807 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89622329-89660753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89642172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 18 (S18P)
Ref Sequence ENSEMBL: ENSMUSP00000103028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029563] [ENSMUST00000098924] [ENSMUST00000107405] [ENSMUST00000118341] [ENSMUST00000121094]
AlphaFold Q99MU3
Predicted Effect probably benign
Transcript: ENSMUST00000029563
AA Change: S18P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: S18P

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
SMART Domains Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951

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: S18P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: S18P

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
SMART Domains Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951

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
SMART Domains Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951

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: ENSMUST00000123691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150637
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.7%
Validation Efficiency 97% (77/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C T 17: 36,205,961 (GRCm39) W27* probably null Het
4933430I17Rik T A 4: 62,460,993 (GRCm39) Y289* probably null Het
A3galt2 A G 4: 128,661,394 (GRCm39) I348V probably benign Het
Abca13 A G 11: 9,241,755 (GRCm39) Y1206C probably damaging Het
Akr1cl T C 1: 65,061,106 (GRCm39) D139G possibly damaging Het
Aldh1b1 A G 4: 45,802,873 (GRCm39) Y137C possibly damaging Het
Arsa T C 15: 89,359,525 (GRCm39) M86V possibly damaging Het
Atg9b C A 5: 24,592,055 (GRCm39) R648L probably damaging Het
Atrn A G 2: 130,824,692 (GRCm39) N1042S possibly damaging Het
Ccdc6 T A 10: 70,010,989 (GRCm39) D325E possibly damaging Het
Cdk12 T C 11: 98,101,203 (GRCm39) S354P unknown Het
Chst3 T A 10: 60,022,130 (GRCm39) Y239F probably benign Het
Cilp2 C A 8: 70,334,844 (GRCm39) R718L probably damaging Het
Col27a1 A G 4: 63,249,586 (GRCm39) probably benign Het
Ctbp2 T C 7: 132,616,137 (GRCm39) N266S probably benign Het
Ctnnd2 T C 15: 30,620,017 (GRCm39) V123A probably damaging Het
Cyria G A 12: 12,411,505 (GRCm39) R123Q probably benign Het
D7Ertd443e T A 7: 133,895,034 (GRCm39) E552V probably null Het
Dcst1 T A 3: 89,260,848 (GRCm39) H516L probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Drd2 C T 9: 49,316,367 (GRCm39) L376F probably damaging Het
Edn1 A G 13: 42,460,270 (GRCm39) N175S probably damaging Het
Eipr1 G T 12: 28,816,838 (GRCm39) G65V probably damaging Het
Epha4 G A 1: 77,351,541 (GRCm39) P905S probably benign Het
Erbb2 T C 11: 98,319,680 (GRCm39) Y591H probably damaging Het
Fam135b G A 15: 71,335,761 (GRCm39) R478C probably benign Het
Fat2 T C 11: 55,180,085 (GRCm39) T1419A probably damaging Het
Flnb C T 14: 7,934,645 (GRCm38) T2239I probably benign Het
Gm7713 T C 15: 59,866,320 (GRCm39) noncoding transcript Het
Hsf5 C T 11: 87,548,168 (GRCm39) P617L probably benign Het
Kcnk12 C A 17: 88,053,468 (GRCm39) R398L probably benign Het
Kif21b T A 1: 136,075,531 (GRCm39) N219K possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klra5 A T 6: 129,876,383 (GRCm39) F141L probably benign Het
Lmtk3 C T 7: 45,442,702 (GRCm39) P462S probably benign Het
Mast2 A G 4: 116,167,938 (GRCm39) probably benign Het
Me1 T A 9: 86,532,932 (GRCm39) T197S probably damaging Het
Msr1 T A 8: 40,072,948 (GRCm39) Q267L probably benign Het
Nfic T C 10: 81,240,819 (GRCm39) T328A probably benign Het
Nphp3 G A 9: 103,897,940 (GRCm39) D390N probably benign Het
Nr2e1 T A 10: 42,458,905 (GRCm39) probably null Het
Nt5el A T 13: 105,218,744 (GRCm39) Q26L probably benign Het
Or52e19b T A 7: 103,032,790 (GRCm39) N140Y probably benign Het
Or5t9 T A 2: 86,659,445 (GRCm39) F116L probably benign Het
Pard6b T C 2: 167,929,332 (GRCm39) L46P probably damaging Het
Prkaa1 T A 15: 5,173,436 (GRCm39) L20Q probably damaging Het
Rapgefl1 T C 11: 98,736,815 (GRCm39) probably null Het
Recql5 T C 11: 115,785,941 (GRCm39) K611E possibly damaging Het
Rexo1 A T 10: 80,378,413 (GRCm39) I1180N possibly damaging Het
Rnf26rt A G 6: 76,474,397 (GRCm39) V73A probably benign Het
Rph3a T C 5: 121,083,456 (GRCm39) N605D probably damaging Het
Sema6a A G 18: 47,409,491 (GRCm39) V592A possibly damaging Het
Skint11 A T 4: 114,051,893 (GRCm39) R80S probably benign Het
Smpdl3a C A 10: 57,677,118 (GRCm39) P72H probably damaging Het
Sobp T G 10: 43,036,822 (GRCm39) M39L possibly damaging Het
Sparcl1 T A 5: 104,233,627 (GRCm39) Y574F probably damaging Het
Spns3 C T 11: 72,429,166 (GRCm39) W206* probably null Het
Srf A G 17: 46,864,685 (GRCm39) V190A possibly damaging Het
Stag1 T G 9: 100,790,719 (GRCm39) H742Q probably benign Het
Strn3 A T 12: 51,673,986 (GRCm39) S542T probably benign Het
Synpo2 T C 3: 122,873,906 (GRCm39) E1020G possibly damaging Het
Tcerg1l T A 7: 137,996,826 (GRCm39) H137L probably benign Het
Tlr12 A T 4: 128,511,229 (GRCm39) D340E probably benign Het
Tmem130 T A 5: 144,692,174 (GRCm39) T77S probably benign Het
Tmem143 C A 7: 45,547,037 (GRCm39) R68S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Trem1 G T 17: 48,548,663 (GRCm39) G67* probably null Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Txndc9 A T 1: 38,033,096 (GRCm39) H95Q probably damaging Het
Yju2b C T 8: 84,986,936 (GRCm39) R187Q probably damaging Het
Zfp35 T A 18: 24,136,986 (GRCm39) N443K probably benign 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
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
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'- GCCAGTAGTGAACTAAAGTCACC -3'
(R):5'- CCCAGATTTCCAGTTGCCTG -3'

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