Incidental Mutation 'R5699:Ano2'
ID 446564
Institutional Source Beutler Lab
Gene Symbol Ano2
Ensembl Gene ENSMUSG00000038115
Gene Name anoctamin 2
Synonyms Tmem16b
MMRRC Submission 043327-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5699 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 125667382-126017089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125849703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 475 (E475G)
Ref Sequence ENSEMBL: ENSMUSP00000125303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159984] [ENSMUST00000160496]
AlphaFold Q8CFW1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159111
Predicted Effect probably damaging
Transcript: ENSMUST00000159984
AA Change: E145G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123965
Gene: ENSMUSG00000038115
AA Change: E145G

DomainStartEndE-ValueType
Pfam:Anoctamin 21 181 1.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160317
Predicted Effect probably damaging
Transcript: ENSMUST00000160496
AA Change: E475G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: E475G

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: E444G
SMART Domains Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
AA Change: E444G

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Pfam:Anoctamin 262 425 1.9e-39 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,225,320 (GRCm39) noncoding transcript Het
4930486L24Rik A G 13: 61,001,410 (GRCm39) F106L possibly damaging Het
Adam11 A T 11: 102,664,466 (GRCm39) M385L probably benign Het
Adgre1 C T 17: 57,788,007 (GRCm39) P925S probably benign Het
Adh7 G A 3: 137,932,087 (GRCm39) A234T probably benign Het
C2cd4c A G 10: 79,448,385 (GRCm39) V254A probably benign Het
Car13 A G 3: 14,715,749 (GRCm39) Y89C probably damaging Het
Cd38 A G 5: 44,057,728 (GRCm39) K100R probably damaging Het
Cdh11 A G 8: 103,361,175 (GRCm39) I721T probably damaging Het
Cdh2 G A 18: 16,779,579 (GRCm39) Q161* probably null Het
Clk1 T C 1: 58,459,354 (GRCm39) K135R probably damaging Het
Col5a1 G A 2: 27,887,611 (GRCm39) G961R unknown Het
Cpt1b T A 15: 89,308,476 (GRCm39) I151F probably benign Het
Cyp51 A G 5: 4,151,213 (GRCm39) F139L probably damaging Het
Disp1 TTGA T 1: 182,870,119 (GRCm39) probably null Het
Dnah8 T C 17: 31,029,298 (GRCm39) I4089T probably benign Het
Dnali1 C T 4: 124,952,843 (GRCm39) V227M possibly damaging Het
Eml4 T G 17: 83,717,514 (GRCm39) S29A probably benign Het
Eps8l3 C A 3: 107,786,895 (GRCm39) P24T probably benign Het
Fancc A T 13: 63,478,446 (GRCm39) probably null Het
Firrm A T 1: 163,785,120 (GRCm39) V753D probably benign Het
Grid2 G A 6: 63,885,975 (GRCm39) A124T probably damaging Het
Ikbke C T 1: 131,204,204 (GRCm39) probably null Het
Kyat1 G A 2: 30,076,662 (GRCm39) A284V probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lmbrd2 G T 15: 9,175,269 (GRCm39) L393F probably benign Het
Lrrc26 T A 2: 25,180,536 (GRCm39) L179Q probably damaging Het
Mlx A G 11: 100,979,520 (GRCm39) D113G possibly damaging Het
Myod1 A G 7: 46,026,407 (GRCm39) K104R probably damaging Het
Nwd1 G A 8: 73,429,602 (GRCm39) probably null Het
Or56b2j T G 7: 104,353,200 (GRCm39) V142G probably damaging Het
Or5b118 A G 19: 13,448,336 (GRCm39) M1V probably null Het
Or6c3 A C 10: 129,308,746 (GRCm39) N62H probably damaging Het
Pacsin3 A T 2: 91,093,126 (GRCm39) Y206F probably damaging Het
Pcdhgb5 T A 18: 37,864,970 (GRCm39) V255E probably damaging Het
Pdp1 T C 4: 11,960,907 (GRCm39) D468G possibly damaging Het
Pgr C T 9: 8,900,600 (GRCm39) probably benign Het
Prrt2 T A 7: 126,617,899 (GRCm39) Y345F probably benign Het
Rbbp8nl T C 2: 179,920,461 (GRCm39) T515A probably damaging Het
Rc3h1 G T 1: 160,757,823 (GRCm39) R47L probably damaging Het
Rfpl4b T A 10: 38,697,281 (GRCm39) I107F possibly damaging Het
Rsbn1 T C 3: 103,869,801 (GRCm39) F754S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn3a T C 2: 65,337,608 (GRCm39) T630A possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slco1a5 C A 6: 142,194,542 (GRCm39) C367F probably damaging Het
Slit1 A G 19: 41,613,959 (GRCm39) probably null Het
Slit2 G A 5: 48,378,333 (GRCm39) probably null Het
Snrnp40 G T 4: 130,258,958 (GRCm39) G122V possibly damaging Het
Stk16 T A 1: 75,190,248 (GRCm39) M111K probably damaging Het
Tbc1d2 T C 4: 46,616,298 (GRCm39) I477V probably benign Het
Tll1 T A 8: 64,570,974 (GRCm39) E199D probably damaging Het
Trhde A T 10: 114,424,407 (GRCm39) D459E probably benign Het
Ttn T C 2: 76,541,881 (GRCm39) R25375G possibly damaging Het
Tubgcp2 A T 7: 139,578,701 (GRCm39) M757K possibly damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ubqln5 A G 7: 103,778,632 (GRCm39) V64A possibly damaging Het
Usp47 A G 7: 111,709,204 (GRCm39) M1337V probably benign Het
Vmn1r201 T A 13: 22,659,409 (GRCm39) Y208N probably damaging Het
Xkr8 C T 4: 132,455,368 (GRCm39) R335H probably damaging Het
Zbtb49 A T 5: 38,373,870 (GRCm39) C25S probably damaging Het
Zeb2 T A 2: 44,887,800 (GRCm39) N404I probably 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
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
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'- TCTAGGCACTCAAGGATGTAGAG -3'
(R):5'- CATTTGAACTCCCAATGGTGC -3'

Sequencing Primer
(F):5'- CCACAGGGCTTAATGCTTTAATAAG -3'
(R):5'- TGAACTCCCAATGGTGCTTATAAACC -3'
Posted On 2016-11-21