Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Ano2'

197713

Institutional Source

Beutler Lab

Gene Symbol

Ano2

Ensembl Gene

ENSMUSG00000038115

Gene Name

anoctamin 2

Synonyms

Tmem16b

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1468 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

125690419-126040126 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125796264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 287 (R287W)

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: R287W

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

SMART Domains

Protein: ENSMUSP00000125303
Gene: ENSMUSG00000038115
AA Change: R287W

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

unknown
Transcript: ENSMUST00000161619
AA Change: R256W

SMART Domains

Protein: ENSMUSP00000125426
Gene: ENSMUSG00000038115
AA Change: R256W

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

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,512,580 (GRCm38)	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579 (GRCm38)		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144 (GRCm38)	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296 (GRCm38)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409 (GRCm38)	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776 (GRCm38)		probably null	Het
Adamts7	T	C	9: 90,188,798 (GRCm38)		probably benign	Het
Adgrf3	G	A	5: 30,202,229 (GRCm38)		probably benign	Het
Aldh6a1	T	C	12: 84,441,770 (GRCm38)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752 (GRCm38)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905 (GRCm38)	R291Q	probably benign	Het
Ap1ar	A	G	3: 127,812,566 (GRCm38)	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922 (GRCm38)	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283 (GRCm38)	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593 (GRCm38)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272 (GRCm38)	M253V	probably benign	Het
Braf	T	C	6: 39,665,083 (GRCm38)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,901,962 (GRCm38)	P716T	probably benign	Het
C7	T	A	15: 5,012,149 (GRCm38)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086 (GRCm38)	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963 (GRCm38)		probably null	Het
Chgb	A	T	2: 132,792,800 (GRCm38)	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664 (GRCm38)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,513,288 (GRCm38)		probably null	Het
Clec12b	A	T	6: 129,380,640 (GRCm38)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496 (GRCm38)	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843 (GRCm38)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281 (GRCm38)	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409 (GRCm38)		probably benign	Het
Cyp2c55	T	A	19: 39,011,081 (GRCm38)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395 (GRCm38)	D414E	probably damaging	Het
Ddx47	T	C	6: 135,011,740 (GRCm38)		probably benign	Het
Dlg1	A	G	16: 31,842,822 (GRCm38)		probably null	Het
Dnah5	C	A	15: 28,230,463 (GRCm38)	S169*	probably null	Het
Dock4	C	A	12: 40,755,810 (GRCm38)	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821 (GRCm38)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530 (GRCm38)	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526 (GRCm38)		probably benign	Het
Fancm	A	T	12: 65,099,293 (GRCm38)	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,732,226 (GRCm38)		probably benign	Het
Fat1	G	A	8: 45,010,545 (GRCm38)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638 (GRCm38)	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673 (GRCm38)		probably benign	Het
Fermt1	C	T	2: 132,925,022 (GRCm38)	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220 (GRCm38)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975 (GRCm38)	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674 (GRCm38)	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231 (GRCm38)		probably benign	Het
Gpd2	A	C	2: 57,355,774 (GRCm38)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350 (GRCm38)	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807 (GRCm38)	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172 (GRCm38)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412 (GRCm38)		probably null	Het
Irx4	G	T	13: 73,265,576 (GRCm38)	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901 (GRCm38)		probably benign	Het
Lama3	T	C	18: 12,441,107 (GRCm38)	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293 (GRCm38)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829 (GRCm38)		probably null	Het
Lrp5	T	C	19: 3,620,191 (GRCm38)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974 (GRCm38)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137 (GRCm38)	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273 (GRCm38)	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483 (GRCm38)		probably null	Het
Mfsd2b	T	A	12: 4,870,536 (GRCm38)	K94*	probably null	Het
Micall2	A	G	5: 139,719,342 (GRCm38)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,897,407 (GRCm38)	T95A	possibly damaging	Het
Myo15	A	T	11: 60,506,006 (GRCm38)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503 (GRCm38)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580 (GRCm38)	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668 (GRCm38)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299 (GRCm38)	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543 (GRCm38)	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982 (GRCm38)		probably null	Het
Oas1g	G	A	5: 120,882,006 (GRCm38)	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750 (GRCm38)	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043 (GRCm38)	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511 (GRCm38)	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628 (GRCm38)	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388 (GRCm38)		probably null	Het
Olfr646	G	T	7: 104,106,689 (GRCm38)	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029 (GRCm38)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089 (GRCm38)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666 (GRCm38)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341 (GRCm38)	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593 (GRCm38)		probably benign	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253 (GRCm38)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115 (GRCm38)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470 (GRCm38)	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572 (GRCm38)		probably benign	Het
Sf3b3	A	T	8: 110,837,374 (GRCm38)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627 (GRCm38)		probably null	Het
Shkbp1	A	T	7: 27,345,326 (GRCm38)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260 (GRCm38)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199 (GRCm38)	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384 (GRCm38)	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197 (GRCm38)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592 (GRCm38)	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484 (GRCm38)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988 (GRCm38)	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112 (GRCm38)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978 (GRCm38)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157 (GRCm38)	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561 (GRCm38)		probably null	Het
Ttc6	A	G	12: 57,674,677 (GRCm38)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171 (GRCm38)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927 (GRCm38)	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112 (GRCm38)		probably benign	Het
Vmn1r223	A	G	13: 23,249,868 (GRCm38)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662 (GRCm38)	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053 (GRCm38)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,082,095 (GRCm38)	T615S	probably damaging	Het

Other mutations in Ano2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Ano2	APN	6	126,013,253 (GRCm38)	missense	probably damaging	1.00
IGL01387:Ano2	APN	6	126,013,277 (GRCm38)	missense	probably damaging	0.99
IGL01772:Ano2	APN	6	126,036,858 (GRCm38)	missense	probably damaging	0.98
IGL01931:Ano2	APN	6	125,982,745 (GRCm38)	missense	probably damaging	1.00
IGL02066:Ano2	APN	6	125,690,739 (GRCm38)	missense	probably benign	0.07
IGL02410:Ano2	APN	6	125,815,533 (GRCm38)	critical splice acceptor site	probably null
IGL02526:Ano2	APN	6	125,872,751 (GRCm38)	critical splice donor site	probably null
IGL03116:Ano2	APN	6	125,980,171 (GRCm38)	nonsense	probably null
IGL03183:Ano2	APN	6	125,710,629 (GRCm38)	missense	probably benign
IGL03391:Ano2	APN	6	125,807,839 (GRCm38)	missense	probably damaging	1.00
R0257:Ano2	UTSW	6	125,880,713 (GRCm38)	missense	probably benign	0.05
R0462:Ano2	UTSW	6	125,712,275 (GRCm38)	missense	probably benign	0.26
R0594:Ano2	UTSW	6	125,982,765 (GRCm38)	missense	probably damaging	1.00
R1072:Ano2	UTSW	6	126,039,324 (GRCm38)	missense	probably damaging	1.00
R1099:Ano2	UTSW	6	125,807,847 (GRCm38)	missense	probably damaging	1.00
R1436:Ano2	UTSW	6	125,867,171 (GRCm38)	critical splice donor site	probably null
R1468:Ano2	UTSW	6	125,796,264 (GRCm38)	missense	probably damaging	1.00
R1822:Ano2	UTSW	6	125,863,457 (GRCm38)	missense	probably damaging	1.00
R1901:Ano2	UTSW	6	125,872,684 (GRCm38)	missense	probably damaging	1.00
R1902:Ano2	UTSW	6	125,872,684 (GRCm38)	missense	probably damaging	1.00
R1911:Ano2	UTSW	6	126,013,691 (GRCm38)	missense	probably benign	0.00
R2040:Ano2	UTSW	6	126,039,508 (GRCm38)	missense	probably benign	0.13
R2192:Ano2	UTSW	6	126,015,539 (GRCm38)	missense	probably damaging	1.00
R2307:Ano2	UTSW	6	125,992,886 (GRCm38)	missense	probably benign	0.00
R2698:Ano2	UTSW	6	125,712,346 (GRCm38)	missense	probably benign	0.01
R2878:Ano2	UTSW	6	125,863,518 (GRCm38)	missense	probably damaging	1.00
R3151:Ano2	UTSW	6	126,013,317 (GRCm38)	splice site	probably null
R4004:Ano2	UTSW	6	126,013,279 (GRCm38)	missense	probably damaging	1.00
R4664:Ano2	UTSW	6	125,863,538 (GRCm38)	missense	probably benign	0.07
R4684:Ano2	UTSW	6	125,790,341 (GRCm38)	missense	probably benign	0.00
R4685:Ano2	UTSW	6	125,980,124 (GRCm38)	nonsense	probably null
R4686:Ano2	UTSW	6	125,790,291 (GRCm38)	missense	probably benign	0.10
R4852:Ano2	UTSW	6	125,982,923 (GRCm38)	missense	possibly damaging	0.95
R4923:Ano2	UTSW	6	125,903,055 (GRCm38)	utr 3 prime	probably benign
R5488:Ano2	UTSW	6	126,039,253 (GRCm38)	missense	possibly damaging	0.46
R5513:Ano2	UTSW	6	126,039,322 (GRCm38)	missense	possibly damaging	0.88
R5699:Ano2	UTSW	6	125,872,740 (GRCm38)	missense	probably damaging	1.00
R5876:Ano2	UTSW	6	126,039,279 (GRCm38)	missense	possibly damaging	0.92
R6175:Ano2	UTSW	6	125,992,955 (GRCm38)	missense	probably benign	0.15
R6219:Ano2	UTSW	6	125,815,590 (GRCm38)	missense	probably damaging	1.00
R6613:Ano2	UTSW	6	125,806,656 (GRCm38)	splice site	probably null
R6711:Ano2	UTSW	6	125,775,832 (GRCm38)	missense	probably damaging	1.00
R6982:Ano2	UTSW	6	125,992,893 (GRCm38)	missense	probably benign
R7153:Ano2	UTSW	6	125,992,943 (GRCm38)	missense	possibly damaging	0.73
R7182:Ano2	UTSW	6	125,790,293 (GRCm38)	missense	probably damaging	0.99
R7312:Ano2	UTSW	6	126,039,497 (GRCm38)	nonsense	probably null
R7358:Ano2	UTSW	6	125,710,733 (GRCm38)	missense	probably benign
R7456:Ano2	UTSW	6	125,963,545 (GRCm38)	missense	probably benign	0.01
R7532:Ano2	UTSW	6	125,963,704 (GRCm38)	missense	probably damaging	1.00
R7607:Ano2	UTSW	6	125,712,419 (GRCm38)	missense	probably damaging	1.00
R7623:Ano2	UTSW	6	126,015,573 (GRCm38)	nonsense	probably null
R7690:Ano2	UTSW	6	126,013,198 (GRCm38)	missense	probably damaging	1.00
R8273:Ano2	UTSW	6	125,982,720 (GRCm38)	missense	probably damaging	1.00
R8389:Ano2	UTSW	6	125,980,169 (GRCm38)	missense	probably damaging	0.99
R8392:Ano2	UTSW	6	125,880,735 (GRCm38)	missense	probably benign	0.02
R8479:Ano2	UTSW	6	125,712,160 (GRCm38)	missense	possibly damaging	0.61
R8488:Ano2	UTSW	6	125,980,170 (GRCm38)	missense	probably damaging	1.00
R8746:Ano2	UTSW	6	125,863,550 (GRCm38)	missense	probably benign	0.14
R9136:Ano2	UTSW	6	125,982,999 (GRCm38)	missense	probably damaging	0.98
R9680:Ano2	UTSW	6	125,880,419 (GRCm38)	critical splice acceptor site	probably null
R9752:Ano2	UTSW	6	125,863,536 (GRCm38)	missense	probably damaging	1.00
Z1176:Ano2	UTSW	6	125,863,453 (GRCm38)	nonsense	probably null
Z1176:Ano2	UTSW	6	125,710,707 (GRCm38)	missense	probably benign
Z1177:Ano2	UTSW	6	126,015,647 (GRCm38)	missense	probably damaging	1.00
Z1177:Ano2	UTSW	6	126,013,207 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGACAAGGAGGCCATCAGCTC -3'
(R):5'- AACAGCTTGGCAGCATCCTAGAC -3'

Sequencing Primer
(F):5'- AGCTCCGCACATGCTTG -3'
(R):5'- AGCCCAGAATGGCTGCTTAG -3'

Posted On

2014-05-23