Mutagenetix > Incidental Mutation

Incidental Mutation 'R1072:Ano2'

85495

Institutional Source

Beutler Lab

Gene Symbol

Ano2

Ensembl Gene

ENSMUSG00000038115

Gene Name

anoctamin 2

Synonyms

Tmem16b

MMRRC Submission

039158-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R1072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125667382-126017089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126016287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 940 (E940G)

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: E940G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: E940G

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

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.3%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,811,992 (GRCm39)	F191Y	probably benign	Het
Ankrd55	G	T	13: 112,485,376 (GRCm39)	A169S	possibly damaging	Het
Atp2c1	A	T	9: 105,336,943 (GRCm39)	H153Q	possibly damaging	Het
Ccnf	A	T	17: 24,456,136 (GRCm39)	V283D	probably damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Clec4b2	T	C	6: 123,181,233 (GRCm39)	I206T	probably damaging	Het
Gli3	T	C	13: 15,888,190 (GRCm39)	V535A	probably damaging	Het
Hectd1	A	T	12: 51,807,855 (GRCm39)	D1779E	probably benign	Het
Itgax	A	G	7: 127,749,316 (GRCm39)	N1154D	probably damaging	Het
Klra10	A	T	6: 130,258,811 (GRCm39)	H25Q	probably benign	Het
Lpo	A	G	11: 87,709,260 (GRCm39)	S94P	probably damaging	Het
Mbd5	A	T	2: 49,147,203 (GRCm39)	N471I	probably damaging	Het
Myo5c	A	G	9: 75,199,490 (GRCm39)	Y1366C	probably damaging	Het
Nbea	A	G	3: 55,993,617 (GRCm39)	I261T	possibly damaging	Het
Nlrp4a	T	C	7: 26,143,860 (GRCm39)	F75S	probably damaging	Het
Numa1	T	A	7: 101,650,357 (GRCm39)		probably null	Het
Ppp3ca	A	G	3: 136,640,888 (GRCm39)	M480V	probably benign	Het
Ptpn23	A	T	9: 110,215,663 (GRCm39)	M1367K	probably benign	Het
Rhobtb2	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	14: 70,024,976 (GRCm39)		probably benign	Het
Sftpa1	C	G	14: 40,855,592 (GRCm39)		probably null	Het
Shank2	A	T	7: 143,965,305 (GRCm39)	N1181I	probably damaging	Het
Slc6a20b	T	C	9: 123,427,524 (GRCm39)	T462A	probably damaging	Het
Spdye4c	T	C	2: 128,438,557 (GRCm39)	L305P	probably benign	Het
Th	C	A	7: 142,448,225 (GRCm39)	V275L	probably benign	Het
Ttn	C	T	2: 76,733,721 (GRCm39)		probably benign	Het
Ush2a	T	C	1: 188,460,914 (GRCm39)	V2725A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCAGTGAGTTGCCTAACACCTTG -3'
(R):5'- TGCGTTTCGCCATAACATGCCC -3'

Sequencing Primer
(F):5'- TAGTCCCTCCGAAGAGGTCAAG -3'
(R):5'- TCTGCTGCCAATGACTCATAC -3'

Posted On

2013-11-18