Incidental Mutation 'IGL02066:Ano2'
ID185655
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ano2
Ensembl Gene ENSMUSG00000038115
Gene Nameanoctamin 2
SynonymsTmem16b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.212) question?
Stock #IGL02066
Quality Score
Status
Chromosome6
Chromosomal Location125690419-126040126 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125690739 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 6 (L6Q)
Ref Sequence ENSEMBL: ENSMUSP00000125303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112254] [ENSMUST00000160496]
Predicted Effect probably benign
Transcript: ENSMUST00000112254
SMART Domains Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930

DomainStartEndE-ValueType
VWD 23 181 3.43e-35 SMART
C8 221 295 1.11e-21 SMART
Pfam:TIL 298 351 6.9e-15 PFAM
VWC 353 413 8.71e-1 SMART
VWD 380 543 2.93e-52 SMART
C8 580 652 3.82e-25 SMART
Pfam:TIL 655 710 4.1e-14 PFAM
EGF_like 790 825 4.37e1 SMART
VWC 832 901 3.29e-3 SMART
VWD 859 1015 5.15e-39 SMART
C8 1056 1130 1.01e-33 SMART
Pfam:TIL 1144 1199 1.3e-9 PFAM
VWA 1278 1461 1.81e-20 SMART
low complexity region 1464 1477 N/A INTRINSIC
VWA 1499 1672 8.43e-39 SMART
VWA 1692 1875 2.83e-31 SMART
VWC 1882 1949 2.99e0 SMART
VWD 1941 2104 5.03e-42 SMART
C8 2135 2203 1.29e-13 SMART
Pfam:TIL 2206 2257 8.3e-8 PFAM
VWC 2260 2328 3.16e-16 SMART
low complexity region 2417 2428 N/A INTRINSIC
VWC 2434 2497 2.61e-17 SMART
VWC 2513 2577 3.37e0 SMART
VWC 2585 2647 2.55e-11 SMART
CT 2730 2815 1.37e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146264
Predicted Effect probably benign
Transcript: ENSMUST00000147101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159111
Predicted Effect probably benign
Transcript: ENSMUST00000160496
AA Change: L6Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: L6Q

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
Coding Region Coverage
Validation Efficiency
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
2610507B11Rik G A 11: 78,273,232 R1133H probably damaging Het
A2m T A 6: 121,649,895 C569S probably damaging Het
Adck5 T C 15: 76,595,206 V487A probably damaging Het
Agfg1 A G 1: 82,893,558 T483A probably damaging Het
Akr1c12 T C 13: 4,276,237 T82A probably damaging Het
Anp32a G A 9: 62,377,333 probably benign Het
Cep250 C A 2: 155,976,521 A871D probably damaging Het
Chl1 T C 6: 103,698,224 V624A probably benign Het
Clasp1 G A 1: 118,565,260 probably null Het
Clca3a2 T G 3: 144,813,455 D320A probably benign Het
Cnot9 A G 1: 74,527,053 Q201R possibly damaging Het
Cox4i2 C T 2: 152,760,682 R99C probably damaging Het
Csmd1 A T 8: 15,926,594 F2875I probably damaging Het
Dpagt1 A G 9: 44,331,906 Y246C probably damaging Het
Dsc1 A G 18: 20,108,803 probably benign Het
Eef1d G A 15: 75,896,855 T464I probably benign Het
Efna2 C T 10: 80,188,666 probably benign Het
Etaa1 C A 11: 17,946,687 V477L probably benign Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam83d C T 2: 158,785,873 T494M probably benign Het
Fbxo24 C T 5: 137,612,870 V553M probably damaging Het
Gal3st2 A G 1: 93,873,657 T12A probably damaging Het
Gba2 G A 4: 43,570,175 T373I probably benign Het
Kitl T A 10: 100,076,882 C154S probably damaging Het
Lrp1b A T 2: 41,111,079 C2044* probably null Het
Lrp6 G T 6: 134,450,937 S1564* probably null Het
Manea A T 4: 26,340,965 probably benign Het
Myt1 T C 2: 181,797,189 L168P probably damaging Het
Notch1 T C 2: 26,460,396 E2244G possibly damaging Het
Nsd3 T G 8: 25,713,488 V1343G probably damaging Het
Nup155 T C 15: 8,157,766 probably benign Het
Obox6 T C 7: 15,834,703 I83V probably benign Het
Olfr358 A T 2: 37,005,309 F102I probably damaging Het
Olfr538 A T 7: 140,574,500 T116S possibly damaging Het
Pdgfra T C 5: 75,170,580 V282A possibly damaging Het
Pkd1l2 A G 8: 117,009,564 probably benign Het
Pmfbp1 A T 8: 109,541,733 I971F possibly damaging Het
Ppp6c T C 2: 39,199,671 T199A probably benign Het
Ptpa A G 2: 30,443,296 T3A possibly damaging Het
Rb1 A T 14: 73,198,534 M897K probably benign Het
Rptn A C 3: 93,397,129 S590R probably benign Het
Rreb1 A G 13: 37,931,506 D947G probably benign Het
Samd9l T C 6: 3,376,575 T229A probably damaging Het
Slc5a9 A T 4: 111,887,522 M423K probably damaging Het
Slc6a12 T A 6: 121,352,056 I111N probably damaging Het
Slc6a15 T A 10: 103,416,658 L561I probably damaging Het
Spag5 A G 11: 78,304,532 N222D probably benign Het
Spp2 G A 1: 88,417,243 M54I probably benign Het
Sptbn4 T C 7: 27,364,515 E847G possibly damaging Het
Timd2 T A 11: 46,678,223 N203Y probably damaging Het
Togaram1 G T 12: 64,983,421 D1000Y probably damaging Het
Usp47 C T 7: 112,064,397 R258C probably damaging Het
Uts2r A C 11: 121,160,697 D129A probably damaging Het
Vmn2r102 G A 17: 19,693,929 M585I probably benign Het
Vmn2r77 A T 7: 86,803,628 R518* probably null Het
Wdfy4 C T 14: 33,149,566 R296K probably benign Het
Xirp2 A T 2: 67,526,071 K3725N probably benign Het
Xntrpc T C 7: 102,077,829 S142P probably benign Het
Zfat T C 15: 68,180,829 H372R probably damaging Het
Other mutations in Ano2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Ano2 APN 6 126013253 missense probably damaging 1.00
IGL01387:Ano2 APN 6 126013277 missense probably damaging 0.99
IGL01772:Ano2 APN 6 126036858 missense probably damaging 0.98
IGL01931:Ano2 APN 6 125982745 missense probably damaging 1.00
IGL02410:Ano2 APN 6 125815533 critical splice acceptor site probably null
IGL02526:Ano2 APN 6 125872751 critical splice donor site probably null
IGL03116:Ano2 APN 6 125980171 nonsense probably null
IGL03183:Ano2 APN 6 125710629 missense probably benign
IGL03391:Ano2 APN 6 125807839 missense probably damaging 1.00
R0257:Ano2 UTSW 6 125880713 missense probably benign 0.05
R0462:Ano2 UTSW 6 125712275 missense probably benign 0.26
R0594:Ano2 UTSW 6 125982765 missense probably damaging 1.00
R1072:Ano2 UTSW 6 126039324 missense probably damaging 1.00
R1099:Ano2 UTSW 6 125807847 missense probably damaging 1.00
R1436:Ano2 UTSW 6 125867171 critical splice donor site probably null
R1468:Ano2 UTSW 6 125796264 missense probably damaging 1.00
R1468:Ano2 UTSW 6 125796264 missense probably damaging 1.00
R1822:Ano2 UTSW 6 125863457 missense probably damaging 1.00
R1901:Ano2 UTSW 6 125872684 missense probably damaging 1.00
R1902:Ano2 UTSW 6 125872684 missense probably damaging 1.00
R1911:Ano2 UTSW 6 126013691 missense probably benign 0.00
R2040:Ano2 UTSW 6 126039508 missense probably benign 0.13
R2192:Ano2 UTSW 6 126015539 missense probably damaging 1.00
R2307:Ano2 UTSW 6 125992886 missense probably benign 0.00
R2698:Ano2 UTSW 6 125712346 missense probably benign 0.01
R2878:Ano2 UTSW 6 125863518 missense probably damaging 1.00
R3151:Ano2 UTSW 6 126013317 splice site probably null
R4004:Ano2 UTSW 6 126013279 missense probably damaging 1.00
R4664:Ano2 UTSW 6 125863538 missense probably benign 0.07
R4684:Ano2 UTSW 6 125790341 missense probably benign 0.00
R4685:Ano2 UTSW 6 125980124 nonsense probably null
R4686:Ano2 UTSW 6 125790291 missense probably benign 0.10
R4852:Ano2 UTSW 6 125982923 missense possibly damaging 0.95
R4923:Ano2 UTSW 6 125903055 utr 3 prime probably benign
R5488:Ano2 UTSW 6 126039253 missense possibly damaging 0.46
R5513:Ano2 UTSW 6 126039322 missense possibly damaging 0.88
R5699:Ano2 UTSW 6 125872740 missense probably damaging 1.00
R5876:Ano2 UTSW 6 126039279 missense possibly damaging 0.92
R6175:Ano2 UTSW 6 125992955 missense probably benign 0.15
R6219:Ano2 UTSW 6 125815590 missense probably damaging 1.00
R6613:Ano2 UTSW 6 125806656 splice site probably null
R6711:Ano2 UTSW 6 125775832 missense probably damaging 1.00
R6982:Ano2 UTSW 6 125992893 missense probably benign
R7153:Ano2 UTSW 6 125992943 missense not run
Posted On2014-05-07