Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00766:Ano2'

12460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano2

Ensembl Gene

ENSMUSG00000038115

Gene Name

anoctamin 2

Synonyms

Tmem16b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL00766

Quality Score

Status

Chromosome

Chromosomal Location

125667382-126017089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125990216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 779 (D779V)

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

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	21	181	1.7e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160496
AA Change: D779V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: D779V

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC
Pfam:Anoctamin	262	425	1.9e-39	PFAM

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,942,415 (GRCm39)	D1379E	probably damaging	Het
Akap13	A	G	7: 75,354,260 (GRCm39)	T1794A	probably damaging	Het
Ap3b1	G	T	13: 94,679,392 (GRCm39)		probably benign	Het
Arfgef1	A	G	1: 10,270,012 (GRCm39)	V379A	probably benign	Het
Arhgef10	A	G	8: 15,025,006 (GRCm39)	Y398C	probably damaging	Het
Arid2	C	T	15: 96,268,286 (GRCm39)	R800C	probably benign	Het
Ccdc88a	T	A	11: 29,451,046 (GRCm39)	H306Q	probably damaging	Het
Cckar	C	A	5: 53,857,378 (GRCm39)	R344L	probably damaging	Het
Cplane1	A	T	15: 8,281,648 (GRCm39)	Q2829L	unknown	Het
Egfem1	A	G	3: 29,711,302 (GRCm39)	I237V	possibly damaging	Het
Erlec1	T	A	11: 30,900,623 (GRCm39)	K143*	probably null	Het
Glyat	T	G	19: 12,628,626 (GRCm39)	D140E	probably benign	Het
Grhl2	T	C	15: 37,336,545 (GRCm39)	F50L	probably damaging	Het
Havcr2	T	C	11: 46,360,373 (GRCm39)	V151A	probably damaging	Het
Herc1	A	G	9: 66,358,023 (GRCm39)	Y2368C	probably damaging	Het
Ift80	A	T	3: 68,821,986 (GRCm39)	Y686*	probably null	Het
Itga7	G	T	10: 128,777,723 (GRCm39)	D235Y	possibly damaging	Het
Kctd3	C	T	1: 188,727,973 (GRCm39)	V199I	probably benign	Het
Mettl25	A	G	10: 105,615,443 (GRCm39)		probably benign	Het
Myoz2	G	A	3: 122,810,193 (GRCm39)		probably benign	Het
Nepro	C	T	16: 44,549,668 (GRCm39)	Q43*	probably null	Het
Ophn1	T	C	X: 97,846,720 (GRCm39)	D74G	probably damaging	Het
Plau	A	G	14: 20,888,635 (GRCm39)	N84S	probably benign	Het
Rprd2	A	G	3: 95,672,691 (GRCm39)	V904A	possibly damaging	Het
Satl1	T	C	X: 111,315,466 (GRCm39)	K330E	possibly damaging	Het
Sis	C	T	3: 72,814,570 (GRCm39)		probably benign	Het
Slc5a5	A	C	8: 71,341,181 (GRCm39)	I386S	probably damaging	Het
Slco1c1	T	C	6: 141,493,609 (GRCm39)	Y264H	probably damaging	Het
Sulf1	A	C	1: 12,890,687 (GRCm39)	D375A	probably damaging	Het
Tesl1	C	A	X: 23,772,838 (GRCm39)	A113E	probably benign	Het
Tgfbi	A	G	13: 56,778,408 (GRCm39)	D393G	probably benign	Het
Trim59	A	C	3: 68,944,712 (GRCm39)	D209E	probably benign	Het
Ubqln3	G	T	7: 103,792,031 (GRCm39)	Q20K	probably benign	Het
Ubr4	A	G	4: 139,168,077 (GRCm39)	D2808G	probably damaging	Het

Other mutations in Ano2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06