Mutagenetix > Incidental Mutations

Incidental Mutation 'R4004:Ano2'

311389

Institutional Source

Beutler Lab

Gene Symbol

Ano2

Ensembl Gene

ENSMUSG00000038115

Gene Name

anoctamin 2

Synonyms

Tmem16b

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125690419-126040126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126013279 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 788 (R788G)

Ref Sequence

ENSEMBL: ENSMUSP00000125303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159984] [ENSMUST00000160496]

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: R788G

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

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: R788G

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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
Acan	A	C	7: 79,100,687	E1735D	probably damaging	Het
Atg9a	T	C	1: 75,186,451	Y335C	probably damaging	Het
BC067074	A	G	13: 113,318,380	Q320R	probably benign	Het
Capn10	T	A	1: 92,940,591	L260Q	probably damaging	Het
Ces1d	A	T	8: 93,178,092	F340Y	probably benign	Het
Ctbp2	C	A	7: 132,991,773	R733L	probably benign	Het
Dgkd	T	C	1: 87,935,423	I64T	possibly damaging	Het
Dmxl2	T	C	9: 54,446,390	I765V	probably benign	Het
Dync2h1	C	A	9: 7,117,404	C62F	probably damaging	Het
F2	T	C	2: 91,628,396	N523S	possibly damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fcgr1	A	G	3: 96,284,352	V380A	probably benign	Het
Gif	T	G	19: 11,759,007	V314G	probably damaging	Het
Herc2	C	A	7: 56,106,465	P751Q	possibly damaging	Het
Ikzf3	C	T	11: 98,489,017	E142K	probably damaging	Het
Kctd3	A	G	1: 188,992,743	S214P	probably benign	Het
Lrpap1	T	A	5: 35,105,544	K50*	probably null	Het
Naa11	A	T	5: 97,391,793	Y169N	probably benign	Het
Nupl2	T	C	5: 24,182,436	I408T	probably damaging	Het
Olfr366	A	T	2: 37,219,948	H153L	probably benign	Het
Olfr721-ps1	C	T	14: 14,408,152	A308V	probably benign	Het
Plxnc1	G	A	10: 94,794,597	Q1512*	probably null	Het
Ptpn14	A	G	1: 189,850,510	N518S	probably benign	Het
Rapgef5	A	G	12: 117,748,397	I740V	probably damaging	Het
Ric1	C	T	19: 29,579,801	R429C	probably benign	Het
Rpn2	T	C	2: 157,318,008	L548P	probably damaging	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Slc28a1	T	C	7: 81,169,038	S580P	probably damaging	Het
Slco6c1	A	G	1: 97,075,885	Y496H	probably damaging	Het
Spag5	T	C	11: 78,321,529	M1101T	probably benign	Het
Utp11	A	T	4: 124,682,437	F138I	probably damaging	Het
Vcp	G	A	4: 42,983,028	T606I	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp316	A	G	5: 143,255,119	S382P	possibly damaging	Het

Other mutations in Ano2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Ano2	APN	6	126013253	missense	probably damaging	1.00
IGL01387:Ano2	APN	6	126013277	missense	probably damaging	0.99
IGL01772:Ano2	APN	6	126036858	missense	probably damaging	0.98
IGL01931:Ano2	APN	6	125982745	missense	probably damaging	1.00
IGL02066:Ano2	APN	6	125690739	missense	probably benign	0.07
IGL02410:Ano2	APN	6	125815533	critical splice acceptor site	probably null
IGL02526:Ano2	APN	6	125872751	critical splice donor site	probably null
IGL03116:Ano2	APN	6	125980171	nonsense	probably null
IGL03183:Ano2	APN	6	125710629	missense	probably benign
IGL03391:Ano2	APN	6	125807839	missense	probably damaging	1.00
R0257:Ano2	UTSW	6	125880713	missense	probably benign	0.05
R0462:Ano2	UTSW	6	125712275	missense	probably benign	0.26
R0594:Ano2	UTSW	6	125982765	missense	probably damaging	1.00
R1072:Ano2	UTSW	6	126039324	missense	probably damaging	1.00
R1099:Ano2	UTSW	6	125807847	missense	probably damaging	1.00
R1436:Ano2	UTSW	6	125867171	critical splice donor site	probably null
R1468:Ano2	UTSW	6	125796264	missense	probably damaging	1.00
R1468:Ano2	UTSW	6	125796264	missense	probably damaging	1.00
R1822:Ano2	UTSW	6	125863457	missense	probably damaging	1.00
R1901:Ano2	UTSW	6	125872684	missense	probably damaging	1.00
R1902:Ano2	UTSW	6	125872684	missense	probably damaging	1.00
R1911:Ano2	UTSW	6	126013691	missense	probably benign	0.00
R2040:Ano2	UTSW	6	126039508	missense	probably benign	0.13
R2192:Ano2	UTSW	6	126015539	missense	probably damaging	1.00
R2307:Ano2	UTSW	6	125992886	missense	probably benign	0.00
R2698:Ano2	UTSW	6	125712346	missense	probably benign	0.01
R2878:Ano2	UTSW	6	125863518	missense	probably damaging	1.00
R3151:Ano2	UTSW	6	126013317	splice site	probably null
R4664:Ano2	UTSW	6	125863538	missense	probably benign	0.07
R4684:Ano2	UTSW	6	125790341	missense	probably benign	0.00
R4685:Ano2	UTSW	6	125980124	nonsense	probably null
R4686:Ano2	UTSW	6	125790291	missense	probably benign	0.10
R4852:Ano2	UTSW	6	125982923	missense	possibly damaging	0.95
R4923:Ano2	UTSW	6	125903055	utr 3 prime	probably benign
R5488:Ano2	UTSW	6	126039253	missense	possibly damaging	0.46
R5513:Ano2	UTSW	6	126039322	missense	possibly damaging	0.88
R5699:Ano2	UTSW	6	125872740	missense	probably damaging	1.00
R5876:Ano2	UTSW	6	126039279	missense	possibly damaging	0.92
R6175:Ano2	UTSW	6	125992955	missense	probably benign	0.15
R6219:Ano2	UTSW	6	125815590	missense	probably damaging	1.00
R6613:Ano2	UTSW	6	125806656	splice site	probably null
R6711:Ano2	UTSW	6	125775832	missense	probably damaging	1.00
R6982:Ano2	UTSW	6	125992893	missense	probably benign
R7153:Ano2	UTSW	6	125992943	missense	possibly damaging	0.73
R7182:Ano2	UTSW	6	125790293	missense	probably damaging	0.99
R7312:Ano2	UTSW	6	126039497	nonsense	probably null
R7358:Ano2	UTSW	6	125710733	missense	probably benign
R7456:Ano2	UTSW	6	125963545	missense	probably benign	0.01
R7532:Ano2	UTSW	6	125963704	missense	probably damaging	1.00
R7607:Ano2	UTSW	6	125712419	missense	probably damaging	1.00
R7623:Ano2	UTSW	6	126015573	nonsense	probably null
R7690:Ano2	UTSW	6	126013198	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAAGGGATGGGCTTTGCTCC -3'
(R):5'- GGGGTAGTTAAATGACTTCCACTG -3'

Sequencing Primer
(F):5'- TCCAGTTTGGTTTTGTCAC -3'
(R):5'- TGGCCTTCCCACATCCAAGG -3'

Posted On

2015-04-29