Incidental Mutation 'R0426:Ano3'
ID 38626
Institutional Source Beutler Lab
Gene Symbol Ano3
Ensembl Gene ENSMUSG00000074968
Gene Name anoctamin 3
Synonyms B230324K02Rik, Tmem16c
MMRRC Submission 038628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0426 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 110485546-110780854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110491519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 919 (V919E)
Ref Sequence ENSEMBL: ENSMUSP00000097219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099623]
AlphaFold A2AHL1
Predicted Effect probably damaging
Transcript: ENSMUST00000099623
AA Change: V919E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: V919E

DomainStartEndE-ValueType
Pfam:Anoct_dimer 156 381 2.9e-70 PFAM
Pfam:Anoctamin 384 950 4.4e-138 PFAM
Meta Mutation Damage Score 0.8623 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (86/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,845,853 (GRCm39) probably benign Het
Acadl A T 1: 66,880,805 (GRCm39) F320L probably damaging Het
Acsbg1 T C 9: 54,530,030 (GRCm39) D222G probably benign Het
Anapc15 A G 7: 101,547,240 (GRCm39) T39A probably benign Het
Arhgef12 T C 9: 42,882,286 (GRCm39) probably null Het
Atad5 T A 11: 80,003,658 (GRCm39) I1091N probably benign Het
Atf1 A T 15: 100,130,708 (GRCm39) H26L possibly damaging Het
Atp10a T C 7: 58,434,482 (GRCm39) M252T probably benign Het
Btbd8 C T 5: 107,658,239 (GRCm39) T1603I probably damaging Het
Cd55 C T 1: 130,376,109 (GRCm39) R347H probably benign Het
Cdc27 A C 11: 104,403,853 (GRCm39) probably null Het
Cdh9 G A 15: 16,823,540 (GRCm39) probably null Het
Cdk11b T C 4: 155,726,969 (GRCm39) probably benign Het
Cep70 A G 9: 99,179,737 (GRCm39) D567G probably benign Het
Cep78 A T 19: 15,948,334 (GRCm39) Y382* probably null Het
Cgas G A 9: 78,343,020 (GRCm39) probably benign Het
Col9a2 T C 4: 120,901,857 (GRCm39) probably benign Het
Cyp2d12 G A 15: 82,443,164 (GRCm39) D409N probably benign Het
Ddx39a A G 8: 84,448,398 (GRCm39) T217A probably benign Het
Dennd1b T A 1: 139,097,934 (GRCm39) D733E probably benign Het
Dicer1 A G 12: 104,668,801 (GRCm39) S1294P probably damaging Het
Dnah3 T C 7: 119,542,795 (GRCm39) E3539G probably benign Het
Dnmbp A G 19: 43,840,875 (GRCm39) probably benign Het
Dysf T C 6: 84,126,739 (GRCm39) L1332P probably damaging Het
F5 A G 1: 164,010,409 (GRCm39) D380G probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Fhip1b A C 7: 105,038,680 (GRCm39) C186W probably damaging Het
Galr2 C A 11: 116,172,517 (GRCm39) A69D probably damaging Het
Grk2 T C 19: 4,340,628 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,262,188 (GRCm39) Y1119* probably null Het
Hgd A T 16: 37,409,047 (GRCm39) probably benign Het
Ildr2 G T 1: 166,136,468 (GRCm39) V436L probably benign Het
Intu G A 3: 40,629,735 (GRCm39) C355Y probably damaging Het
Irf2bpl G T 12: 86,929,870 (GRCm39) P268T probably benign Het
Jarid2 T C 13: 44,994,358 (GRCm39) probably null Het
Jup A T 11: 100,263,227 (GRCm39) M716K probably benign Het
Kank1 G A 19: 25,388,837 (GRCm39) V809I probably damaging Het
Kdm1b T A 13: 47,217,720 (GRCm39) probably benign Het
Kdm3a C T 6: 71,577,739 (GRCm39) C687Y probably damaging Het
Kdm5d T A Y: 942,437 (GRCm39) probably benign Het
Kifap3 T A 1: 163,693,121 (GRCm39) probably benign Het
Macf1 T A 4: 123,377,453 (GRCm39) K1400* probably null Het
Majin A G 19: 6,262,147 (GRCm39) probably benign Het
Mctp1 A G 13: 77,168,940 (GRCm39) I846V probably benign Het
Mrgpra2b T A 7: 47,113,875 (GRCm39) I286F possibly damaging Het
Neil3 T G 8: 54,062,431 (GRCm39) probably benign Het
Nox3 G T 17: 3,745,838 (GRCm39) N23K probably damaging Het
Nt5c3 T C 6: 56,860,797 (GRCm39) K219E probably benign Het
Or1e29 T A 11: 73,667,263 (GRCm39) M297L probably benign Het
Or52b4i T A 7: 102,191,893 (GRCm39) I250N probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6b13 A C 7: 139,782,029 (GRCm39) F218C possibly damaging Het
Or6d13 A T 6: 116,517,446 (GRCm39) N11Y probably damaging Het
Or8g34 T C 9: 39,372,889 (GRCm39) L54P probably damaging Het
Pacsin2 A G 15: 83,263,996 (GRCm39) V347A possibly damaging Het
Pcdhb7 A T 18: 37,475,857 (GRCm39) E331V probably damaging Het
Pcid2 A C 8: 13,131,262 (GRCm39) probably null Het
Pcsk9 T C 4: 106,307,274 (GRCm39) D323G possibly damaging Het
Pdhb T C 14: 8,169,801 (GRCm38) E203G probably damaging Het
Phlpp2 A G 8: 110,655,095 (GRCm39) Y630C probably benign Het
Pidd1 C T 7: 141,019,046 (GRCm39) A812T probably damaging Het
Plau G A 14: 20,892,382 (GRCm39) R389H probably benign Het
Plekhg6 G A 6: 125,341,592 (GRCm39) probably null Het
Ppox T C 1: 171,105,322 (GRCm39) Y321C probably damaging Het
Pxdn A G 12: 30,037,065 (GRCm39) N281S possibly damaging Het
Pycr3 A T 15: 75,790,237 (GRCm39) M138K probably benign Het
Radil T C 5: 142,483,628 (GRCm39) Y526C probably damaging Het
Ranbp3 C A 17: 57,014,169 (GRCm39) D233E probably benign Het
Rhpn1 A G 15: 75,583,721 (GRCm39) Q402R possibly damaging Het
Sec23b T A 2: 144,410,532 (GRCm39) probably benign Het
Sel1l2 A T 2: 140,082,832 (GRCm39) L602* probably null Het
Sema5b G A 16: 35,466,725 (GRCm39) G209D probably damaging Het
Svep1 T C 4: 58,073,333 (GRCm39) Y1992C possibly damaging Het
Syncrip T A 9: 88,338,312 (GRCm39) probably benign Het
Synj1 G T 16: 90,764,242 (GRCm39) A65E probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tecrl T C 5: 83,502,610 (GRCm39) probably benign Het
Tenm4 G T 7: 96,427,058 (GRCm39) G698C probably damaging Het
Tmem209 G A 6: 30,491,181 (GRCm39) L259F probably damaging Het
Tmem247 G A 17: 87,225,931 (GRCm39) E124K possibly damaging Het
Tnks2 C A 19: 36,830,221 (GRCm39) A218E probably damaging Het
Tppp T A 13: 74,169,430 (GRCm39) F57I probably damaging Het
Trim36 A G 18: 46,305,592 (GRCm39) W452R probably damaging Het
Vars2 A T 17: 35,975,476 (GRCm39) V262E probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zfp516 G T 18: 82,973,897 (GRCm39) A32S probably benign Het
Zfy2 G T Y: 2,107,348 (GRCm39) L429I possibly damaging Het
Other mutations in Ano3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Ano3 APN 2 110,601,395 (GRCm39) splice site probably benign
IGL01066:Ano3 APN 2 110,491,790 (GRCm39) missense probably null 0.00
IGL01696:Ano3 APN 2 110,498,082 (GRCm39) missense probably damaging 1.00
IGL01729:Ano3 APN 2 110,611,739 (GRCm39) splice site probably null
IGL01785:Ano3 APN 2 110,513,060 (GRCm39) missense probably damaging 1.00
IGL01786:Ano3 APN 2 110,513,060 (GRCm39) missense probably damaging 1.00
IGL01992:Ano3 APN 2 110,488,564 (GRCm39) missense probably damaging 1.00
IGL02098:Ano3 APN 2 110,496,786 (GRCm39) nonsense probably null
IGL02333:Ano3 APN 2 110,527,544 (GRCm39) splice site probably benign
IGL02346:Ano3 APN 2 110,601,271 (GRCm39) splice site probably benign
IGL02352:Ano3 APN 2 110,715,288 (GRCm39) nonsense probably null
IGL02359:Ano3 APN 2 110,715,288 (GRCm39) nonsense probably null
IGL02544:Ano3 APN 2 110,488,594 (GRCm39) missense possibly damaging 0.79
IGL02750:Ano3 APN 2 110,496,329 (GRCm39) splice site probably benign
IGL02861:Ano3 APN 2 110,569,157 (GRCm39) missense probably damaging 1.00
IGL02948:Ano3 APN 2 110,527,363 (GRCm39) splice site probably benign
IGL03327:Ano3 APN 2 110,527,523 (GRCm39) missense possibly damaging 0.62
3-1:Ano3 UTSW 2 110,527,469 (GRCm39) missense probably damaging 1.00
IGL02988:Ano3 UTSW 2 110,605,355 (GRCm39) missense probably damaging 1.00
IGL03147:Ano3 UTSW 2 110,527,763 (GRCm39) missense probably damaging 1.00
R0349:Ano3 UTSW 2 110,491,832 (GRCm39) missense probably damaging 1.00
R0523:Ano3 UTSW 2 110,715,200 (GRCm39) missense probably benign 0.13
R0557:Ano3 UTSW 2 110,693,297 (GRCm39) splice site probably null
R0611:Ano3 UTSW 2 110,715,346 (GRCm39) missense possibly damaging 0.93
R0891:Ano3 UTSW 2 110,528,321 (GRCm39) missense probably benign 0.03
R1459:Ano3 UTSW 2 110,711,174 (GRCm39) missense probably benign 0.00
R1460:Ano3 UTSW 2 110,513,103 (GRCm39) missense probably damaging 0.97
R1773:Ano3 UTSW 2 110,591,800 (GRCm39) missense probably damaging 1.00
R1874:Ano3 UTSW 2 110,715,217 (GRCm39) missense probably benign 0.00
R1919:Ano3 UTSW 2 110,715,352 (GRCm39) missense probably benign
R2185:Ano3 UTSW 2 110,605,390 (GRCm39) missense probably benign 0.01
R2280:Ano3 UTSW 2 110,513,104 (GRCm39) missense probably benign 0.22
R2281:Ano3 UTSW 2 110,513,104 (GRCm39) missense probably benign 0.22
R2348:Ano3 UTSW 2 110,614,088 (GRCm39) missense possibly damaging 0.82
R2425:Ano3 UTSW 2 110,693,188 (GRCm39) missense probably benign
R2697:Ano3 UTSW 2 110,625,305 (GRCm39) missense possibly damaging 0.79
R3888:Ano3 UTSW 2 110,715,345 (GRCm39) missense probably damaging 0.99
R3923:Ano3 UTSW 2 110,601,304 (GRCm39) missense probably damaging 1.00
R4352:Ano3 UTSW 2 110,576,239 (GRCm39) missense possibly damaging 0.74
R4447:Ano3 UTSW 2 110,591,923 (GRCm39) splice site probably null
R4790:Ano3 UTSW 2 110,715,264 (GRCm39) missense probably benign
R4832:Ano3 UTSW 2 110,498,067 (GRCm39) missense probably damaging 1.00
R4916:Ano3 UTSW 2 110,601,365 (GRCm39) missense possibly damaging 0.74
R5113:Ano3 UTSW 2 110,491,825 (GRCm39) missense possibly damaging 0.61
R5486:Ano3 UTSW 2 110,576,215 (GRCm39) missense probably damaging 1.00
R5498:Ano3 UTSW 2 110,527,448 (GRCm39) missense possibly damaging 0.68
R5589:Ano3 UTSW 2 110,715,340 (GRCm39) missense probably damaging 0.99
R5627:Ano3 UTSW 2 110,587,298 (GRCm39) missense possibly damaging 0.61
R5741:Ano3 UTSW 2 110,488,618 (GRCm39) missense probably benign 0.11
R5767:Ano3 UTSW 2 110,491,616 (GRCm39) missense probably damaging 1.00
R5883:Ano3 UTSW 2 110,711,209 (GRCm39) missense probably null 0.15
R5899:Ano3 UTSW 2 110,693,232 (GRCm39) missense probably benign 0.39
R5916:Ano3 UTSW 2 110,512,181 (GRCm39) missense probably benign 0.29
R6158:Ano3 UTSW 2 110,496,220 (GRCm39) missense probably damaging 1.00
R6315:Ano3 UTSW 2 110,527,384 (GRCm39) missense probably damaging 1.00
R6401:Ano3 UTSW 2 110,605,459 (GRCm39) missense probably benign 0.01
R6481:Ano3 UTSW 2 110,625,372 (GRCm39) missense probably benign 0.16
R6482:Ano3 UTSW 2 110,527,400 (GRCm39) missense probably damaging 1.00
R6587:Ano3 UTSW 2 110,628,249 (GRCm39) splice site probably null
R6811:Ano3 UTSW 2 110,711,212 (GRCm39) missense probably benign 0.03
R7048:Ano3 UTSW 2 110,513,116 (GRCm39) nonsense probably null
R7145:Ano3 UTSW 2 110,693,205 (GRCm39) missense probably benign 0.31
R7207:Ano3 UTSW 2 110,611,768 (GRCm39) missense probably damaging 0.96
R7215:Ano3 UTSW 2 110,496,277 (GRCm39) missense probably damaging 1.00
R7366:Ano3 UTSW 2 110,587,412 (GRCm39) missense probably damaging 1.00
R7371:Ano3 UTSW 2 110,715,194 (GRCm39) critical splice donor site probably null
R7568:Ano3 UTSW 2 110,780,638 (GRCm39) start gained probably benign
R7636:Ano3 UTSW 2 110,513,048 (GRCm39) nonsense probably null
R7888:Ano3 UTSW 2 110,496,773 (GRCm39) missense probably damaging 1.00
R7992:Ano3 UTSW 2 110,605,367 (GRCm39) missense possibly damaging 0.77
R8024:Ano3 UTSW 2 110,498,128 (GRCm39) missense probably damaging 0.99
R8074:Ano3 UTSW 2 110,780,577 (GRCm39) start gained probably benign
R8111:Ano3 UTSW 2 110,614,058 (GRCm39) missense possibly damaging 0.95
R8177:Ano3 UTSW 2 110,496,801 (GRCm39) missense probably damaging 1.00
R8297:Ano3 UTSW 2 110,491,616 (GRCm39) missense probably damaging 1.00
R8485:Ano3 UTSW 2 110,498,200 (GRCm39) critical splice acceptor site probably null
R8509:Ano3 UTSW 2 110,496,180 (GRCm39) missense possibly damaging 0.50
R8870:Ano3 UTSW 2 110,614,074 (GRCm39) missense probably benign 0.12
R9071:Ano3 UTSW 2 110,625,418 (GRCm39) critical splice acceptor site probably null
R9072:Ano3 UTSW 2 110,576,243 (GRCm39) missense probably benign 0.06
R9073:Ano3 UTSW 2 110,576,243 (GRCm39) missense probably benign 0.06
R9315:Ano3 UTSW 2 110,528,287 (GRCm39) missense probably damaging 0.97
R9376:Ano3 UTSW 2 110,496,782 (GRCm39) missense probably damaging 1.00
R9588:Ano3 UTSW 2 110,528,342 (GRCm39) missense possibly damaging 0.91
R9697:Ano3 UTSW 2 110,496,253 (GRCm39) missense probably damaging 1.00
R9716:Ano3 UTSW 2 110,601,376 (GRCm39) missense probably damaging 0.97
R9748:Ano3 UTSW 2 110,488,640 (GRCm39) missense probably damaging 1.00
RF012:Ano3 UTSW 2 110,527,868 (GRCm39) missense possibly damaging 0.83
RF013:Ano3 UTSW 2 110,527,381 (GRCm39) missense probably benign 0.30
X0058:Ano3 UTSW 2 110,527,763 (GRCm39) missense probably damaging 1.00
Z1088:Ano3 UTSW 2 110,576,192 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGTCATTTATCAGCTTATGAAAGCCACC -3'
(R):5'- CTAGTTGCCTAAAGGGCTATGTCAACAATA -3'

Sequencing Primer
(F):5'- CTAGGAGCCTCAACATTTTGTG -3'
(R):5'- GGGCTATGTCAACAATAGCTTATCC -3'
Posted On 2013-05-23