Mutagenetix > Incidental Mutations

Incidental Mutation 'R7607:Ano2'

588369

Institutional Source

Beutler Lab

Gene Symbol

Ano2

Ensembl Gene

ENSMUSG00000038115

Gene Name

anoctamin 2

Synonyms

Tmem16b

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125690419-126040126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125712419 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 169 (A169V)

Ref Sequence

ENSEMBL: ENSMUSP00000125303 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000160496
AA Change: A169V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: A169V

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
AA Change: A138V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
AA Change: A138V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989		probably null	Het
Abca7	T	C	10: 80,011,833	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459	V1140I	possibly damaging	Het
Atat1	T	C	17: 35,909,107	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011		probably null	Het
Atp7b	T	G	8: 22,011,506	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936	L156*	probably null	Het
Gk5	A	T	9: 96,153,210		probably null	Het
Gm3573	A	G	14: 42,189,750	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911		probably null	Het
Igdcc4	C	T	9: 65,133,758	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269		probably null	Het
Knl1	T	C	2: 119,095,133	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783	E128G	probably benign	Het
Radil	A	T	5: 142,494,795	M635K	probably damaging	Het
Radil	A	G	5: 142,506,613	I420T	probably damaging	Het
Rnase11	G	A	14: 51,049,572	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738	P13S		Het
Slc18a2	C	A	19: 59,284,358	A364D	probably benign	Het
Snph	C	T	2: 151,594,586	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829	T40A	unknown	Het
Terb2	G	T	2: 122,186,475	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn1r48	C	A	6: 90,035,980	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742	D992E	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
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
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
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'- TTTCACGACAACCAGAGGAAAG -3'
(R):5'- TACCAAAACTCTGCTGCAAGG -3'

Sequencing Primer
(F):5'- AGTCGACTATGTACTTGCATACCAC -3'
(R):5'- ACTCTGCTGCAAGGCCCTG -3'

Posted On

2019-10-24