Mutagenetix > Incidental Mutation

Incidental Mutation 'R6613:Ano2'

526311

Institutional Source

Beutler Lab

Gene Symbol

Ano2

Ensembl Gene

ENSMUSG00000038115

Gene Name

anoctamin 2

Synonyms

Tmem16b

MMRRC Submission

044736-MU

Accession Numbers

Essential gene?

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

Stock #

R6613 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125667382-126017089 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 125783619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160496]

AlphaFold

Q8CFW1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159111

Predicted Effect

probably null
Transcript: ENSMUST00000160496

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115

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: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (37/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef1	A	T	1: 10,264,621 (GRCm39)	I475N	possibly damaging	Het
Atg16l2	C	T	7: 100,939,788 (GRCm39)		probably null	Het
Atp2c2	T	G	8: 120,482,760 (GRCm39)	L874R	probably damaging	Het
C2cd3	T	A	7: 100,044,448 (GRCm39)	S343R	possibly damaging	Het
C4b	A	T	17: 34,952,539 (GRCm39)	S1167T	probably damaging	Het
Cacna1i	G	A	15: 80,205,460 (GRCm39)	G139S	probably damaging	Het
Chil6	A	T	3: 106,297,191 (GRCm39)	F317I	probably benign	Het
Cngb1	A	T	8: 95,992,638 (GRCm39)	V199E	possibly damaging	Het
Dcn	A	T	10: 97,330,902 (GRCm39)	T79S	probably benign	Het
Dcxr	A	G	11: 120,617,832 (GRCm39)	V48A	probably benign	Het
Dnajc13	A	T	9: 104,091,076 (GRCm39)	D668E	probably benign	Het
Dnajc28	C	A	16: 91,413,246 (GRCm39)	E357*	probably null	Het
Dock7	A	G	4: 98,866,197 (GRCm39)	Y1198H	probably damaging	Het
Flot1	A	G	17: 36,136,703 (GRCm39)	D167G	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Hyou1	A	T	9: 44,293,795 (GRCm39)	I242F	probably damaging	Het
Igfbpl1	T	C	4: 45,813,447 (GRCm39)	N256S	probably benign	Het
Kif20b	C	T	19: 34,914,384 (GRCm39)	Q390*	probably null	Het
Lhfpl2	T	A	13: 94,311,003 (GRCm39)	F91Y	probably damaging	Het
Magi1	G	A	6: 93,722,654 (GRCm39)	T408I	probably damaging	Het
Mttp	T	C	3: 137,814,839 (GRCm39)	N479D	probably damaging	Het
Myom3	T	C	4: 135,539,770 (GRCm39)	V1339A	possibly damaging	Het
Nin	T	C	12: 70,077,728 (GRCm39)	K1733E	probably damaging	Het
Or5k1	C	A	16: 58,617,894 (GRCm39)	C105F	probably damaging	Het
Pdzrn4	T	C	15: 92,575,455 (GRCm39)	I287T	probably damaging	Het
Ptprt	A	G	2: 161,372,367 (GRCm39)	V1435A	probably damaging	Het
Rpap3	T	C	15: 97,579,722 (GRCm39)		probably null	Het
Scin	A	G	12: 40,129,714 (GRCm39)	Y360H	probably benign	Het
Sfxn5	A	G	6: 85,246,890 (GRCm39)		probably null	Het
Sgo1	A	G	17: 53,986,085 (GRCm39)	S369P	probably damaging	Het
Skil	T	A	3: 31,152,029 (GRCm39)	C184S	probably null	Het
Srcin1	A	G	11: 97,424,653 (GRCm39)	M607T	possibly damaging	Het
Ssc5d	C	T	7: 4,936,292 (GRCm39)	P513S	possibly damaging	Het
Trip10	A	G	17: 57,562,197 (GRCm39)		probably null	Het
Vmn2r114	T	A	17: 23,529,220 (GRCm39)	Q294L	possibly damaging	Het
Zc3h12c	A	G	9: 52,027,412 (GRCm39)	V650A	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
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
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'- TGAAGCTTGAGGAAGAGCCC -3'
(R):5'- TCTTGGAAGATTAGAGAGAACACAC -3'

Sequencing Primer
(F):5'- CTTGAGGAAGAGCCCATAGAGTG -3'
(R):5'- TGTAACCTTGGCTCCCAGAAG -3'

Posted On

2018-06-22