Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01387:Ano2'

79077

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: 0.102) question?

Stock #

IGL01387

Quality Score

Status

Chromosome

Chromosomal Location

125667382-126017089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125990240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 787 (L787P)

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: L787P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: L787P

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,835,596 (GRCm39)	I288T	possibly damaging	Het
Akr1c13	T	A	13: 4,247,794 (GRCm39)		probably null	Het
Arf4	A	T	14: 26,374,300 (GRCm39)	I73F	possibly damaging	Het
Atp6v1e1	A	G	6: 120,772,732 (GRCm39)		probably null	Het
Ccdc9	A	C	7: 16,018,424 (GRCm39)	M1R	probably null	Het
Cep162	A	G	9: 87,093,864 (GRCm39)	L838S	probably benign	Het
Cfap251	T	A	5: 123,421,609 (GRCm39)	I654N	probably damaging	Het
Cfi	T	A	3: 129,668,562 (GRCm39)		probably benign	Het
Creb3l3	T	C	10: 80,927,110 (GRCm39)	T107A	probably benign	Het
Erlin2	T	C	8: 27,526,576 (GRCm39)	L312P	probably benign	Het
Etv1	T	G	12: 38,911,326 (GRCm39)	M384R	probably damaging	Het
Exph5	G	T	9: 53,285,265 (GRCm39)	S782I	possibly damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Fsip2	A	G	2: 82,823,326 (GRCm39)	N6353S	possibly damaging	Het
Gk5	T	C	9: 96,059,607 (GRCm39)		probably null	Het
Gm11168	T	G	9: 3,005,128 (GRCm39)	S202R	possibly damaging	Het
Hdlbp	T	C	1: 93,341,310 (GRCm39)	D1016G	possibly damaging	Het
Kpna4	A	G	3: 69,009,590 (GRCm39)		probably benign	Het
Lrrn2	T	C	1: 132,866,096 (GRCm39)	V387A	possibly damaging	Het
Or4a76	T	A	2: 89,460,964 (GRCm39)	R93*	probably null	Het
Or5bw2	A	G	7: 6,573,854 (GRCm39)	Y288C	probably damaging	Het
Or6c33	T	A	10: 129,853,710 (GRCm39)	M160K	probably damaging	Het
Or8g23	A	G	9: 38,971,617 (GRCm39)	L115S	probably damaging	Het
Or8k37	T	C	2: 86,469,594 (GRCm39)	T153A	probably benign	Het
Plekhs1	A	G	19: 56,459,403 (GRCm39)	Q51R	probably benign	Het
Rab27b	T	A	18: 70,118,380 (GRCm39)	D179V	possibly damaging	Het
Rprd2	C	T	3: 95,672,631 (GRCm39)	R924H	probably benign	Het
Shprh	T	C	10: 11,045,998 (GRCm39)	I905T	probably damaging	Het
Trpm8	T	C	1: 88,271,009 (GRCm39)	L433P	probably damaging	Het
Urb1	A	G	16: 90,554,649 (GRCm39)	L1861S	possibly damaging	Het
Vmn2r124	C	A	17: 18,283,188 (GRCm39)	T294K	probably damaging	Het
Znrf3	A	T	11: 5,288,656 (GRCm39)	C37*	probably null	Het

Other mutations in Ano2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Ano2	APN	6	125,990,216 (GRCm39)	missense	probably damaging	1.00
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

2013-11-05