Mutagenetix > Incidental Mutations

Incidental Mutation 'R4684:Ano2'

353513

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: 0.091) question?

Stock #

R4684 (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 125790341 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 214 (N214S)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159111

Predicted Effect

probably benign
Transcript: ENSMUST00000160496
AA Change: N245S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: N245S

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

noncoding transcript
Transcript: ENSMUST00000161293

SMART Domains

Protein: ENSMUSP00000124001
Gene: ENSMUSG00000038115

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161619
AA Change: N214S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
AA Change: N214S

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: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007	T558P	probably damaging	Het
Arhgef4	A	T	1: 34,811,785		probably null	Het
Boc	C	T	16: 44,500,380	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256		probably benign	Het
Cobll1	G	T	2: 65,099,028	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846		probably benign	Het
Disp2	A	G	2: 118,792,756	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433	M1T	probably null	Het
Ik	T	C	18: 36,752,414	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702	C79*	probably null	Het
Myh4	G	C	11: 67,245,811	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200		probably null	Het
Secisbp2l	T	C	2: 125,745,942	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445	L605*	probably null	Het
Utrn	T	C	10: 12,745,240	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930	Y102H	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
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
R4004:Ano2	UTSW	6	126013279	missense	probably damaging	1.00
R4664:Ano2	UTSW	6	125863538	missense	probably benign	0.07
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

Predicted Primers

PCR Primer
(F):5'- TGCTCAGGGTATTTCCTCCG -3'
(R):5'- ACAGGGATGTAGGAACTGTTTC -3'

Sequencing Primer
(F):5'- AGGGTATTTCCTCCGGGACCTC -3'
(R):5'- AACTGTTTCCCCTGGAGAGCTG -3'

Posted On

2015-10-21