Incidental Mutation 'R5488:Ano2'
ID 430457
Institutional Source Beutler Lab
Gene Symbol Ano2
Ensembl Gene ENSMUSG00000038115
Gene Name anoctamin 2
Synonyms Tmem16b
MMRRC Submission 043049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5488 (G1)
Quality Score 196
Status Validated
Chromosome 6
Chromosomal Location 125667382-126017089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126016216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 916 (M916I)
Ref Sequence ENSEMBL: ENSMUSP00000125303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159984] [ENSMUST00000160496]
AlphaFold Q8CFW1
Predicted Effect probably benign
Transcript: ENSMUST00000159984
SMART Domains Protein: ENSMUSP00000123965
Gene: ENSMUSG00000038115

DomainStartEndE-ValueType
Pfam:Anoctamin 21 181 1.7e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160496
AA Change: M916I

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: M916I

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 probably benign
Transcript: ENSMUST00000161619
SMART Domains Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Pfam:Anoctamin 262 425 1.9e-39 PFAM
Meta Mutation Damage Score 0.1323 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency 97% (58/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,851,473 (GRCm39) V817D probably damaging Het
Abca5 A G 11: 110,183,009 (GRCm39) V1016A probably benign Het
Aqr T C 2: 113,963,554 (GRCm39) N632S probably damaging Het
Cd48 G A 1: 171,523,273 (GRCm39) V39I possibly damaging Het
Cdcp3 A G 7: 130,848,324 (GRCm39) D710G probably damaging Het
Cdk17 A G 10: 93,068,274 (GRCm39) T344A probably damaging Het
Chd8 A T 14: 52,450,505 (GRCm39) probably benign Het
Col4a1 A T 8: 11,362,550 (GRCm39) probably benign Het
Col9a3 G A 2: 180,258,318 (GRCm39) R579H probably damaging Het
Cripto G A 9: 110,772,265 (GRCm39) R44C probably benign Het
Cyp2c69 T G 19: 39,839,603 (GRCm39) Q340P probably null Het
D630003M21Rik T A 2: 158,058,941 (GRCm39) T320S probably benign Het
D630045J12Rik A T 6: 38,173,782 (GRCm39) S129T possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fam13a A T 6: 59,001,303 (GRCm39) L8Q probably null Het
Fam83b T C 9: 76,452,881 (GRCm39) N62S probably benign Het
Foxred1 A T 9: 35,121,266 (GRCm39) V94E probably damaging Het
Gprc5a T C 6: 135,055,868 (GRCm39) V105A probably damaging Het
Gvin3 T A 7: 106,200,797 (GRCm39) noncoding transcript Het
Itga2 A T 13: 114,979,971 (GRCm39) W1077R probably damaging Het
Kat6b A G 14: 21,719,332 (GRCm39) D1228G probably damaging Het
Kctd3 A G 1: 188,713,563 (GRCm39) Y391H probably damaging Het
Kdelr2 T A 5: 143,389,784 (GRCm39) I23N probably damaging Het
Kmt2a A T 9: 44,752,335 (GRCm39) probably benign Het
Lao1 A G 4: 118,824,566 (GRCm39) E216G probably damaging Het
Mark4 G T 7: 19,163,532 (GRCm39) probably null Het
Mcm10 A G 2: 4,996,929 (GRCm39) W851R probably damaging Het
Mettl21e T C 1: 44,257,276 (GRCm39) Y14C probably benign Het
Miga1 CACAACAACAACAACAACA CACAACAACAACAACA 3: 152,039,083 (GRCm39) probably benign Het
Mmp20 A G 9: 7,643,958 (GRCm39) probably null Het
Nlrp5 A T 7: 23,117,359 (GRCm39) D361V probably benign Het
Nrip3 T C 7: 109,361,045 (GRCm39) T210A probably damaging Het
Or12d2 T C 17: 37,624,559 (GRCm39) T239A probably damaging Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Pcdh10 G A 3: 45,335,803 (GRCm39) G706S probably damaging Het
Pdzd2 G A 15: 12,382,762 (GRCm39) P1197L probably benign Het
Pfkfb3 T C 2: 11,489,480 (GRCm39) S273G probably benign Het
Pkn3 T C 2: 29,978,596 (GRCm39) probably null Het
Rab40c G A 17: 26,109,643 (GRCm39) T78I probably damaging Het
Rec8 A T 14: 55,860,283 (GRCm39) Q291L probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sart3 A G 5: 113,909,441 (GRCm39) W86R probably damaging Het
Slc6a11 A G 6: 114,220,855 (GRCm39) D462G probably damaging Het
Syne2 A G 12: 75,934,946 (GRCm39) T143A probably benign Het
Tardbp A G 4: 148,703,097 (GRCm39) F289S probably benign Het
Tdpoz1 T A 3: 93,577,974 (GRCm39) Y270F possibly damaging Het
Tmem117 ACCC ACC 15: 94,992,698 (GRCm39) probably null Het
Trim43a A T 9: 88,464,229 (GRCm39) I47F probably damaging Het
Vim A T 2: 13,580,392 (GRCm39) T202S probably benign Het
Vps13b A T 15: 35,770,688 (GRCm39) I2044L probably benign Het
Wdr5 T G 2: 27,415,165 (GRCm39) D192E probably damaging Het
Zmym2 A G 14: 57,193,712 (GRCm39) K1176E possibly damaging 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
R0257:Ano2 UTSW 6 125,857,676 (GRCm39) missense probably benign 0.05
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
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'- AGTGAGTTGCCTAACACCTTGTTC -3'
(R):5'- TGAGGATGCTATGCTGCCTG -3'

Sequencing Primer
(F):5'- GAGTTGCCTAACACCTTGTTCTGTTC -3'
(R):5'- CCTGATGGTGCAGAGCTG -3'
Posted On 2016-10-05