Incidental Mutation 'R1964:Adar'
ID 217068
Institutional Source Beutler Lab
Gene Symbol Adar
Ensembl Gene ENSMUSG00000027951
Gene Name adenosine deaminase, RNA-specific
Synonyms mZaADAR, ADAR1, Adar1p150, Adar1p110
MMRRC Submission 039977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1964 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89622329-89660753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89653202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 263 (S263C)
Ref Sequence ENSEMBL: ENSMUSP00000112969 (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: S781C

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029563
Gene: ENSMUSG00000027951
AA Change: S781C

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: S559C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000096525
Gene: ENSMUSG00000027951
AA Change: S559C

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: S807C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103028
Gene: ENSMUSG00000027951
AA Change: S807C

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: S289C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113453
Gene: ENSMUSG00000027951
AA Change: S289C

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: S263C

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112969
Gene: ENSMUSG00000027951
AA Change: S263C

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 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: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,324 (GRCm39) H158Y probably damaging Het
1810009J06Rik T A 6: 40,945,141 (GRCm39) C207S probably damaging Het
Aadac T A 3: 59,944,759 (GRCm39) probably null Het
Abca6 T A 11: 110,075,502 (GRCm39) I1330F probably damaging Het
Adra2b T C 2: 127,205,734 (GRCm39) Y84H probably damaging Het
Arnt2 A T 7: 83,992,997 (GRCm39) V181E possibly damaging Het
Atg7 T C 6: 114,683,191 (GRCm39) L418P probably damaging Het
Atp2c1 A G 9: 105,323,322 (GRCm39) L181P probably damaging Het
Awat2 G A X: 99,448,165 (GRCm39) P148S probably damaging Het
Birc6 A G 17: 74,941,880 (GRCm39) M2737V possibly damaging Het
Ccdc81 A G 7: 89,535,361 (GRCm39) C292R probably benign Het
Cd14 T A 18: 36,859,392 (GRCm39) E21V probably damaging Het
Cdc14b A C 13: 64,363,351 (GRCm39) C303W probably damaging Het
Cdh23 T C 10: 60,221,001 (GRCm39) I1248V probably benign Het
Ceacam1 T C 7: 25,174,133 (GRCm39) D174G probably benign Het
Cgas T G 9: 78,344,737 (GRCm39) Y228S probably damaging Het
Chd7 A G 4: 8,865,978 (GRCm39) M717V probably damaging Het
Cib1 T C 7: 79,882,120 (GRCm39) T20A possibly damaging Het
Clec4d A G 6: 123,239,319 (GRCm39) K9R probably benign Het
Cntnap1 C A 11: 101,068,850 (GRCm39) S131* probably null Het
Crybg1 T C 10: 43,834,326 (GRCm39) K1581R probably damaging Het
Csf2 T G 11: 54,139,284 (GRCm39) T100P probably benign Het
Csrp2 T A 10: 110,767,894 (GRCm39) D26E probably benign Het
Cul1 T C 6: 47,479,505 (GRCm39) V257A probably damaging Het
Cul4a G A 8: 13,186,406 (GRCm39) M505I possibly damaging Het
Cul4a T C 8: 13,186,854 (GRCm39) M530T probably benign Het
Dcp2 T C 18: 44,529,038 (GRCm39) M51T possibly damaging Het
Ddx60 T A 8: 62,401,903 (GRCm39) C260S probably benign Het
Dennd2c G A 3: 103,073,807 (GRCm39) R851H probably damaging Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Edem1 T C 6: 108,821,908 (GRCm39) W322R probably benign Het
Egflam T C 15: 7,276,586 (GRCm39) T527A probably damaging Het
Ephb1 T A 9: 101,848,322 (GRCm39) M659L possibly damaging Het
Fbxl2 A G 9: 113,818,237 (GRCm39) I203T probably benign Het
Gabbr1 G A 17: 37,359,351 (GRCm39) G109R probably damaging Het
Gabra2 T C 5: 71,171,793 (GRCm39) I148V possibly damaging Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gps2 T G 11: 69,807,246 (GRCm39) S301A probably benign Het
H2-D1 T C 17: 35,482,595 (GRCm39) L105P probably benign Het
Igdcc4 T C 9: 65,030,051 (GRCm39) V367A probably benign Het
Igkv4-69 T G 6: 69,260,782 (GRCm39) Y115S probably benign Het
Itga5 A G 15: 103,262,741 (GRCm39) L309P probably damaging Het
Itih1 A G 14: 30,651,580 (GRCm39) Y871H probably damaging Het
Itpr2 T A 6: 146,013,191 (GRCm39) N2662I probably damaging Het
Kctd19 T A 8: 106,115,102 (GRCm39) E486D probably damaging Het
Kif5b C T 18: 6,209,059 (GRCm39) R901Q possibly damaging Het
Kmt2a G A 9: 44,731,941 (GRCm39) S2792F probably benign Het
Magi3 A G 3: 103,927,718 (GRCm39) V1023A probably damaging Het
Mapk9 C A 11: 49,745,160 (GRCm39) R25S probably null Het
Memo1 T C 17: 74,552,003 (GRCm39) T98A possibly damaging Het
Mill2 A G 7: 18,590,529 (GRCm39) K203R probably damaging Het
Mios T A 6: 8,215,798 (GRCm39) H331Q probably damaging Het
Muc6 G T 7: 141,226,329 (GRCm39) S1566* probably null Het
Muc6 A G 7: 141,226,330 (GRCm39) probably benign Het
Napsa T C 7: 44,231,109 (GRCm39) F113L probably benign Het
Or5ac16 T A 16: 59,022,271 (GRCm39) I173F possibly damaging Het
Or9m1 A G 2: 87,734,011 (GRCm39) V3A probably benign Het
Oscp1 T G 4: 125,977,415 (GRCm39) V226G possibly damaging Het
Osgin2 G T 4: 15,998,358 (GRCm39) S421R probably damaging Het
Pclaf A G 9: 65,800,677 (GRCm39) N50D probably damaging Het
Pdgfc A T 3: 81,082,292 (GRCm39) I162F probably benign Het
Plag1 T C 4: 3,903,956 (GRCm39) T412A probably benign Het
Pogz A T 3: 94,785,504 (GRCm39) T820S probably benign Het
Ptpn9 T A 9: 56,967,196 (GRCm39) V473D probably damaging Het
Qdpr A T 5: 45,596,660 (GRCm39) M66K possibly damaging Het
Qrich1 A G 9: 108,411,621 (GRCm39) N382S possibly damaging Het
Rbbp8 T C 18: 11,875,736 (GRCm39) V883A possibly damaging Het
Rgl1 T A 1: 152,424,855 (GRCm39) I375F probably damaging Het
Rif1 C T 2: 51,988,421 (GRCm39) T720I probably benign Het
Rilp A T 11: 75,401,328 (GRCm39) Q95L probably benign Het
Rnf169 T A 7: 99,574,732 (GRCm39) N621I probably damaging Het
Rps27a T C 11: 29,497,229 (GRCm39) K27R probably null Het
Sar1a T C 10: 61,520,947 (GRCm39) V54A probably benign Het
Sash1 T A 10: 8,605,477 (GRCm39) H971L probably benign Het
Sdk2 G A 11: 113,671,843 (GRCm39) Q2102* probably null Het
Serpina1e T A 12: 103,917,466 (GRCm39) I68F probably damaging Het
Serpinb9e A C 13: 33,437,474 (GRCm39) Q119P probably benign Het
Sh3tc2 A T 18: 62,124,226 (GRCm39) K965* probably null Het
Slc16a1 A T 3: 104,556,782 (GRCm39) S56C probably damaging Het
Slc26a11 T A 11: 119,271,020 (GRCm39) L563Q possibly damaging Het
Smarca2 G T 19: 26,650,124 (GRCm39) E24* probably null Het
Smgc G A 15: 91,744,468 (GRCm39) G239D probably damaging Het
Sos2 A T 12: 69,663,636 (GRCm39) M616K possibly damaging Het
Tet1 T A 10: 62,648,726 (GRCm39) D1902V possibly damaging Het
Thap2 C T 10: 115,220,152 (GRCm39) C10Y probably damaging Het
Tln2 T C 9: 67,249,417 (GRCm39) D890G probably benign Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Ubqln5 A T 7: 103,778,095 (GRCm39) V243E possibly damaging Het
Utrn A T 10: 12,560,181 (GRCm39) D1369E probably damaging Het
Vcan A G 13: 89,840,861 (GRCm39) V1561A probably benign Het
Vmn1r70 T C 7: 10,367,737 (GRCm39) F56S possibly damaging Het
Vmn2r25 A G 6: 123,800,254 (GRCm39) L696S possibly damaging Het
Washc2 A G 6: 116,185,948 (GRCm39) T53A probably damaging Het
Wnk1 T A 6: 119,911,343 (GRCm39) T2417S possibly damaging Het
Zbtb49 A T 5: 38,361,105 (GRCm39) C12* probably null Het
Zfp472 C A 17: 33,196,848 (GRCm39) P308T 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
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'- CTCAGTAGAGTGCATGTCTGGG -3'
(R):5'- GGCAACTTTGAAGACACTCAAC -3'

Sequencing Primer
(F):5'- GGTGTGGGATAGGGAAAGATGACTC -3'
(R):5'- TGGACTTGCTCACAATGACTCCAG -3'
Posted On 2014-08-01