Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03391:Ano2'

421054

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 #

IGL03391

Quality Score

Status

Chromosome

Chromosomal Location

125667382-126017089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125784802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 327 (N327K)

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 damaging
Transcript: ENSMUST00000160496
AA Change: N327K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: N327K

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

unknown
Transcript: ENSMUST00000161619
AA Change: N296K

SMART Domains

Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
AA Change: N296K

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,107 (GRCm39)	D586G	probably damaging	Het
Acadvl	A	C	11: 69,901,542 (GRCm39)	M557R	probably damaging	Het
Cdh11	A	T	8: 103,400,655 (GRCm39)	D104E	possibly damaging	Het
Chrnb2	A	G	3: 89,668,184 (GRCm39)	F377S	probably damaging	Het
Cngb1	T	C	8: 96,030,333 (GRCm39)		probably benign	Het
Dnaaf1	C	T	8: 120,309,355 (GRCm39)	R148C	probably damaging	Het
Esrrg	A	T	1: 187,882,420 (GRCm39)	I226F	possibly damaging	Het
Evl	C	A	12: 108,642,358 (GRCm39)		probably null	Het
Gpam	T	C	19: 55,070,128 (GRCm39)	E376G	probably damaging	Het
Gzf1	C	A	2: 148,525,603 (GRCm39)	R25S	probably damaging	Het
Ighv5-2	A	T	12: 113,542,138 (GRCm39)	Y113*	probably null	Het
Izumo4	A	G	10: 80,540,947 (GRCm39)	T216A	probably damaging	Het
Lrp1b	T	G	2: 41,185,653 (GRCm39)	Y1354S	possibly damaging	Het
Mark1	A	G	1: 184,651,632 (GRCm39)		probably benign	Het
Mylpf	A	G	7: 126,812,349 (GRCm39)	I17V	probably benign	Het
Myo18b	C	A	5: 113,022,345 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,533,750 (GRCm39)	A1795V	probably benign	Het
Oprm1	A	C	10: 6,964,077 (GRCm39)		probably benign	Het
Or2ag15	A	T	7: 106,340,962 (GRCm39)	Y60N	probably damaging	Het
Or5b122	A	G	19: 13,563,483 (GRCm39)	M272V	probably benign	Het
Or5w1	A	G	2: 87,487,032 (GRCm39)	S78P	possibly damaging	Het
Parp14	T	C	16: 35,678,640 (GRCm39)	M443V	probably benign	Het
Psca	T	C	15: 74,586,717 (GRCm39)	F5S	probably benign	Het
Ptbp2	A	T	3: 119,514,031 (GRCm39)	Y514*	probably null	Het
Scg3	A	G	9: 75,568,533 (GRCm39)		probably null	Het
Scn2a	T	C	2: 65,594,557 (GRCm39)	V1802A	probably damaging	Het
Serpinb3a	A	G	1: 106,974,072 (GRCm39)	S280P	possibly damaging	Het
Slc39a14	T	C	14: 70,547,291 (GRCm39)	I352V	probably damaging	Het
Slc6a2	G	T	8: 93,688,080 (GRCm39)	V69L	probably damaging	Het
Slc8a1	A	G	17: 81,740,067 (GRCm39)		probably benign	Het
Tjp1	T	C	7: 64,964,717 (GRCm39)	D818G	probably damaging	Het
Tnfaip8	T	C	18: 50,223,552 (GRCm39)	V120A	probably damaging	Het
Trmt5	G	A	12: 73,328,226 (GRCm39)	H326Y	probably benign	Het
Vmn1r222	T	C	13: 23,416,632 (GRCm39)	M194V	possibly damaging	Het
Zbtb17	A	G	4: 141,194,069 (GRCm39)	E699G	probably 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
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

2016-08-02