Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Ano2'

34781

Institutional Source

Beutler Lab

Gene Symbol

Ano2

Ensembl Gene

ENSMUSG00000038115

Gene Name

anoctamin 2

Synonyms

Tmem16b

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R0257 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

125690419-126040126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125880713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 505 (A505E)

Ref Sequence

ENSEMBL: ENSMUSP00000125303 (fasta)

Gene Model

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

AlphaFold

Q8CFW1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159111

Predicted Effect

probably benign
Transcript: ENSMUST00000159984
AA Change: A171E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000123965
Gene: ENSMUSG00000038115
AA Change: A171E

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	21	181	1.7e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160317

Predicted Effect

probably benign
Transcript: ENSMUST00000160496
AA Change: A505E

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: A505E

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: A474E

SMART Domains

Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
AA Change: A474E

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC
Pfam:Anoctamin	262	425	1.9e-39	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	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
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
R4004:Ano2	UTSW	6	126013279	missense	probably damaging	1.00
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
R8273:Ano2	UTSW	6	125982720	missense	probably damaging	1.00
R8389:Ano2	UTSW	6	125980169	missense	probably damaging	0.99
R8392:Ano2	UTSW	6	125880735	missense	probably benign	0.02
R8479:Ano2	UTSW	6	125712160	missense	possibly damaging	0.61
R8488:Ano2	UTSW	6	125980170	missense	probably damaging	1.00
R8746:Ano2	UTSW	6	125863550	missense	probably benign	0.14
R9136:Ano2	UTSW	6	125982999	missense	probably damaging	0.98
R9680:Ano2	UTSW	6	125880419	critical splice acceptor site	probably null
R9752:Ano2	UTSW	6	125863536	missense	probably damaging	1.00
Z1176:Ano2	UTSW	6	125710707	missense	probably benign
Z1176:Ano2	UTSW	6	125863453	nonsense	probably null
Z1177:Ano2	UTSW	6	126013207	missense	probably damaging	1.00
Z1177:Ano2	UTSW	6	126015647	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTCTCACAACATTGTGTCCTTGC -3'
(R):5'- ACTTGCCATGACAGCCTGTTCC -3'

Sequencing Primer
(F):5'- TGATAGTGTCCATTCCTAAACCCAG -3'
(R):5'- ATGACAGCCTGTTCCCAAGG -3'

Posted On

2013-05-09