Incidental Mutation 'R0257:Ano2'
ID 34781
Institutional Source Beutler Lab
Gene Symbol Ano2
Ensembl Gene ENSMUSG00000038115
Gene Name anoctamin 2
Synonyms Tmem16b
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0257 (G1)
Quality Score 182
Status Validated
Chromosome 6
Chromosomal Location 125667382-126017089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 125857676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 505 (A505E)
Ref Sequence ENSEMBL: ENSMUSP00000125303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159984] [ENSMUST00000160496]
AlphaFold Q8CFW1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159111
Predicted Effect probably benign
Transcript: ENSMUST00000159984
AA Change: A171E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123965
Gene: ENSMUSG00000038115
AA Change: A171E

DomainStartEndE-ValueType
Pfam:Anoctamin 21 181 1.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160317
Predicted Effect probably benign
Transcript: ENSMUST00000160496
AA Change: A505E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: A505E

DomainStartEndE-ValueType
low complexity region 60 69 N/A INTRINSIC
Pfam:Anoct_dimer 91 348 5.7e-78 PFAM
Pfam:Anoctamin 351 941 6.7e-138 PFAM
low complexity region 964 991 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000161619
AA Change: A474E
SMART Domains Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
AA Change: A474E

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Pfam:Anoctamin 262 425 1.9e-39 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele lack calcium-activated chloride currents in the main olfactory epithelium and vomeronasal organ but normal olfaction in behavioral tasks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,401,107 (GRCm39) E171D probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgre5 T A 8: 84,458,624 (GRCm39) H134L possibly damaging Het
Ahsg A T 16: 22,717,790 (GRCm39) M256L probably benign Het
Alk A T 17: 72,910,490 (GRCm39) L72Q probably damaging Het
Bcas3 A G 11: 85,712,865 (GRCm39) K908E probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Car2 C G 3: 14,965,037 (GRCm39) H224D probably benign Het
Cfh T C 1: 140,071,773 (GRCm39) D287G probably benign Het
Disp3 G T 4: 148,335,211 (GRCm39) N944K possibly damaging Het
Dlg1 A G 16: 31,661,671 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,708,123 (GRCm39) E1281G probably damaging Het
Dmxl1 T A 18: 50,088,870 (GRCm39) probably benign Het
Dtx3 T C 10: 127,028,761 (GRCm39) D159G probably benign Het
Ets2 T A 16: 95,513,245 (GRCm39) C140* probably null Het
Fbf1 T C 11: 116,045,917 (GRCm39) I226V probably benign Het
Fgd6 T A 10: 93,879,777 (GRCm39) H210Q probably benign Het
Fktn A G 4: 53,734,898 (GRCm39) T179A probably benign Het
Galnt10 T C 11: 57,671,904 (GRCm39) M398T probably damaging Het
Grk5 G T 19: 61,065,068 (GRCm39) probably benign Het
Gse1 A G 8: 121,299,073 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,259,176 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,861,052 (GRCm39) probably null Het
Lama4 T C 10: 38,970,880 (GRCm39) probably benign Het
Luzp2 A G 7: 54,899,194 (GRCm39) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm39) V1053D probably damaging Het
Mrm1 A C 11: 84,705,649 (GRCm39) probably benign Het
Msh5 G C 17: 35,251,840 (GRCm39) R407G probably damaging Het
Myo1c A T 11: 75,556,342 (GRCm39) probably null Het
Nek5 T C 8: 22,613,688 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,728 (GRCm39) I894V possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Pde4a C T 9: 21,103,717 (GRCm39) P175L probably damaging Het
Pip5k1c C A 10: 81,150,930 (GRCm39) A628E possibly damaging Het
Piwil2 C T 14: 70,660,080 (GRCm39) S139N probably benign Het
Prob1 T C 18: 35,786,092 (GRCm39) K721E possibly damaging Het
Rps6ka2 C A 17: 7,495,382 (GRCm39) S57Y probably damaging Het
Rxfp1 C T 3: 79,589,842 (GRCm39) V100M possibly damaging Het
Serpinb9e A T 13: 33,441,664 (GRCm39) M199L probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a8 G A 15: 100,682,761 (GRCm39) probably benign Het
Sned1 A T 1: 93,192,819 (GRCm39) S369C possibly damaging Het
St18 T A 1: 6,890,186 (GRCm39) F539L probably benign Het
Stam2 C T 2: 52,584,794 (GRCm39) G500D possibly damaging Het
Stx16 G A 2: 173,938,754 (GRCm39) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm39) S211L possibly damaging Het
Tcf12 C T 9: 71,765,904 (GRCm39) S512N probably benign Het
Tiam2 T C 17: 3,501,088 (GRCm39) V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 (GRCm39) A131V probably damaging Het
Tnrc6b C A 15: 80,778,556 (GRCm39) N1176K possibly damaging Het
Trrap C T 5: 144,741,045 (GRCm39) S1264L probably benign Het
Ttn T A 2: 76,640,775 (GRCm39) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,249,889 (GRCm39) T794I probably damaging Het
Vmn2r52 T A 7: 9,904,982 (GRCm39) R286* probably null Het
Vps53 A T 11: 76,068,211 (GRCm39) probably benign Het
Wdr18 A G 10: 79,796,953 (GRCm39) probably benign Het
Wdr31 A G 4: 62,378,755 (GRCm39) probably null Het
Zfp458 T A 13: 67,407,706 (GRCm39) K47* probably null Het
Zfp983 A G 17: 21,880,356 (GRCm39) T95A probably benign Het
Other mutations in Ano2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Ano2 APN 6 125,990,216 (GRCm39) missense probably damaging 1.00
IGL01387:Ano2 APN 6 125,990,240 (GRCm39) missense probably damaging 0.99
IGL01772:Ano2 APN 6 126,013,821 (GRCm39) missense probably damaging 0.98
IGL01931:Ano2 APN 6 125,959,708 (GRCm39) missense probably damaging 1.00
IGL02066:Ano2 APN 6 125,667,702 (GRCm39) missense probably benign 0.07
IGL02410:Ano2 APN 6 125,792,496 (GRCm39) critical splice acceptor site probably null
IGL02526:Ano2 APN 6 125,849,714 (GRCm39) critical splice donor site probably null
IGL03116:Ano2 APN 6 125,957,134 (GRCm39) nonsense probably null
IGL03183:Ano2 APN 6 125,687,592 (GRCm39) missense probably benign
IGL03391:Ano2 APN 6 125,784,802 (GRCm39) missense probably damaging 1.00
R0462:Ano2 UTSW 6 125,689,238 (GRCm39) missense probably benign 0.26
R0594:Ano2 UTSW 6 125,959,728 (GRCm39) missense probably damaging 1.00
R1072:Ano2 UTSW 6 126,016,287 (GRCm39) missense probably damaging 1.00
R1099:Ano2 UTSW 6 125,784,810 (GRCm39) missense probably damaging 1.00
R1436:Ano2 UTSW 6 125,844,134 (GRCm39) critical splice donor site probably null
R1468:Ano2 UTSW 6 125,773,227 (GRCm39) missense probably damaging 1.00
R1468:Ano2 UTSW 6 125,773,227 (GRCm39) missense probably damaging 1.00
R1822:Ano2 UTSW 6 125,840,420 (GRCm39) missense probably damaging 1.00
R1901:Ano2 UTSW 6 125,849,647 (GRCm39) missense probably damaging 1.00
R1902:Ano2 UTSW 6 125,849,647 (GRCm39) missense probably damaging 1.00
R1911:Ano2 UTSW 6 125,990,654 (GRCm39) missense probably benign 0.00
R2040:Ano2 UTSW 6 126,016,471 (GRCm39) missense probably benign 0.13
R2192:Ano2 UTSW 6 125,992,502 (GRCm39) missense probably damaging 1.00
R2307:Ano2 UTSW 6 125,969,849 (GRCm39) missense probably benign 0.00
R2698:Ano2 UTSW 6 125,689,309 (GRCm39) missense probably benign 0.01
R2878:Ano2 UTSW 6 125,840,481 (GRCm39) missense probably damaging 1.00
R3151:Ano2 UTSW 6 125,990,280 (GRCm39) splice site probably null
R4004:Ano2 UTSW 6 125,990,242 (GRCm39) missense probably damaging 1.00
R4664:Ano2 UTSW 6 125,840,501 (GRCm39) missense probably benign 0.07
R4684:Ano2 UTSW 6 125,767,304 (GRCm39) missense probably benign 0.00
R4685:Ano2 UTSW 6 125,957,087 (GRCm39) nonsense probably null
R4686:Ano2 UTSW 6 125,767,254 (GRCm39) missense probably benign 0.10
R4852:Ano2 UTSW 6 125,959,886 (GRCm39) missense possibly damaging 0.95
R4923:Ano2 UTSW 6 125,880,018 (GRCm39) utr 3 prime probably benign
R5488:Ano2 UTSW 6 126,016,216 (GRCm39) missense possibly damaging 0.46
R5513:Ano2 UTSW 6 126,016,285 (GRCm39) missense possibly damaging 0.88
R5699:Ano2 UTSW 6 125,849,703 (GRCm39) missense probably damaging 1.00
R5876:Ano2 UTSW 6 126,016,242 (GRCm39) missense possibly damaging 0.92
R6175:Ano2 UTSW 6 125,969,918 (GRCm39) missense probably benign 0.15
R6219:Ano2 UTSW 6 125,792,553 (GRCm39) missense probably damaging 1.00
R6613:Ano2 UTSW 6 125,783,619 (GRCm39) splice site probably null
R6711:Ano2 UTSW 6 125,752,795 (GRCm39) missense probably damaging 1.00
R6982:Ano2 UTSW 6 125,969,856 (GRCm39) missense probably benign
R7153:Ano2 UTSW 6 125,969,906 (GRCm39) missense possibly damaging 0.73
R7182:Ano2 UTSW 6 125,767,256 (GRCm39) missense probably damaging 0.99
R7312:Ano2 UTSW 6 126,016,460 (GRCm39) nonsense probably null
R7358:Ano2 UTSW 6 125,687,696 (GRCm39) missense probably benign
R7456:Ano2 UTSW 6 125,940,508 (GRCm39) missense probably benign 0.01
R7532:Ano2 UTSW 6 125,940,667 (GRCm39) missense probably damaging 1.00
R7607:Ano2 UTSW 6 125,689,382 (GRCm39) missense probably damaging 1.00
R7623:Ano2 UTSW 6 125,992,536 (GRCm39) nonsense probably null
R7690:Ano2 UTSW 6 125,990,161 (GRCm39) missense probably damaging 1.00
R8273:Ano2 UTSW 6 125,959,683 (GRCm39) missense probably damaging 1.00
R8389:Ano2 UTSW 6 125,957,132 (GRCm39) missense probably damaging 0.99
R8392:Ano2 UTSW 6 125,857,698 (GRCm39) missense probably benign 0.02
R8479:Ano2 UTSW 6 125,689,123 (GRCm39) missense possibly damaging 0.61
R8488:Ano2 UTSW 6 125,957,133 (GRCm39) missense probably damaging 1.00
R8746:Ano2 UTSW 6 125,840,513 (GRCm39) missense probably benign 0.14
R9136:Ano2 UTSW 6 125,959,962 (GRCm39) missense probably damaging 0.98
R9680:Ano2 UTSW 6 125,857,382 (GRCm39) critical splice acceptor site probably null
R9752:Ano2 UTSW 6 125,840,499 (GRCm39) missense probably damaging 1.00
Z1176:Ano2 UTSW 6 125,840,416 (GRCm39) nonsense probably null
Z1176:Ano2 UTSW 6 125,687,670 (GRCm39) missense probably benign
Z1177:Ano2 UTSW 6 125,992,610 (GRCm39) missense probably damaging 1.00
Z1177:Ano2 UTSW 6 125,990,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTCTCACAACATTGTGTCCTTGC -3'
(R):5'- ACTTGCCATGACAGCCTGTTCC -3'

Sequencing Primer
(F):5'- TGATAGTGTCCATTCCTAAACCCAG -3'
(R):5'- ATGACAGCCTGTTCCCAAGG -3'
Posted On 2013-05-09