Incidental Mutation 'R1460:Ano3'
ID 162033
Institutional Source Beutler Lab
Gene Symbol Ano3
Ensembl Gene ENSMUSG00000074968
Gene Name anoctamin 3
Synonyms B230324K02Rik, Tmem16c
MMRRC Submission 039515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1460 (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 110513103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 631 (S631T)
Ref Sequence ENSEMBL: ENSMUSP00000097219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099623]
AlphaFold A2AHL1
Predicted Effect probably damaging
Transcript: ENSMUST00000099623
AA Change: S631T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: S631T

DomainStartEndE-ValueType
Pfam:Anoct_dimer 156 381 2.9e-70 PFAM
Pfam:Anoctamin 384 950 4.4e-138 PFAM
Meta Mutation Damage Score 0.0722 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.1%
Validation Efficiency 94% (93/99)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A T 4: 109,388,407 (GRCm39) probably null Het
Abcb11 A G 2: 69,087,718 (GRCm39) probably benign Het
Abi3bp T C 16: 56,382,780 (GRCm39) V130A probably damaging Het
Adamts4 A G 1: 171,084,009 (GRCm39) probably benign Het
Adgrd1 A G 5: 129,199,627 (GRCm39) T155A possibly damaging Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Atg7 G A 6: 114,680,325 (GRCm39) A384T probably damaging Het
Atp6v0a1 T A 11: 100,924,824 (GRCm39) I303N probably damaging Het
B3gntl1 T G 11: 121,530,624 (GRCm39) Y149S probably damaging Het
Btnl2 A G 17: 34,585,424 (GRCm39) D475G probably benign Het
Cdcp1 A T 9: 123,009,092 (GRCm39) S529T possibly damaging Het
Cenpt A G 8: 106,575,520 (GRCm39) L194P probably damaging Het
Cfhr4 T A 1: 139,625,934 (GRCm39) I788F probably damaging Het
Chmp4b A G 2: 154,534,515 (GRCm39) D177G possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cish G T 9: 107,177,596 (GRCm39) E91* probably null Het
Col22a1 T C 15: 71,693,780 (GRCm39) D740G unknown Het
Cplane2 T C 4: 140,945,523 (GRCm39) F125L probably damaging Het
Crocc G A 4: 140,756,551 (GRCm39) Q1025* probably null Het
Ctrc C A 4: 141,566,120 (GRCm39) probably benign Het
Cyb5r2 T A 7: 107,356,450 (GRCm39) D7V probably benign Het
Dhx29 T C 13: 113,101,744 (GRCm39) probably benign Het
Dhx9 A C 1: 153,341,426 (GRCm39) D607E probably benign Het
Dnajb7 C T 15: 81,291,888 (GRCm39) G150R probably benign Het
Dnase1l3 T A 14: 7,974,050 (GRCm38) T214S probably benign Het
Dpm1 A T 2: 168,052,549 (GRCm39) I229N probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Entpd1 T C 19: 40,714,632 (GRCm39) V247A probably damaging Het
Ephb3 C A 16: 21,037,672 (GRCm39) H277Q probably benign Het
Etl4 A T 2: 20,793,288 (GRCm39) N671I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancd2os G A 6: 113,574,973 (GRCm39) T11I probably damaging Het
Fcrlb G T 1: 170,739,853 (GRCm39) probably benign Het
Fhip1a T C 3: 85,638,183 (GRCm39) I39V probably damaging Het
Gm9991 T C 1: 90,606,780 (GRCm39) noncoding transcript Het
Gstk1 C T 6: 42,223,529 (GRCm39) R40W probably damaging Het
Gstt1 C T 10: 75,620,004 (GRCm39) V190M probably damaging Het
Hectd2 G A 19: 36,592,908 (GRCm39) W691* probably null Het
Hecw2 T C 1: 53,852,404 (GRCm39) T1572A probably damaging Het
Hoxa5 T C 6: 52,180,928 (GRCm39) T135A probably benign Het
Igfl3 T A 7: 17,913,880 (GRCm39) C77S possibly damaging Het
Itgb4 A G 11: 115,874,990 (GRCm39) D449G probably damaging Het
Larp1b T C 3: 40,916,653 (GRCm39) V11A probably benign Het
Lhx9 A G 1: 138,766,447 (GRCm39) probably benign Het
Lig3 G T 11: 82,686,624 (GRCm39) probably benign Het
Lipo4 A C 19: 33,476,718 (GRCm39) F343L probably benign Het
Lyn T A 4: 3,789,908 (GRCm39) Y480* probably null Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mill1 C A 7: 17,996,595 (GRCm39) A137D probably damaging Het
Mmut T C 17: 41,248,266 (GRCm39) Y98H probably damaging Het
Morc2a A T 11: 3,633,794 (GRCm39) R635S probably benign Het
Mpped2 A G 2: 106,575,237 (GRCm39) probably benign Het
Mug2 T C 6: 122,017,492 (GRCm39) probably benign Het
Mynn C A 3: 30,657,853 (GRCm39) S57Y probably damaging Het
Myo3b G A 2: 70,062,798 (GRCm39) E333K probably benign Het
Myt1 A T 2: 181,444,725 (GRCm39) I514F probably damaging Het
Nlrp4f A G 13: 65,338,082 (GRCm39) C708R probably benign Het
Nod2 A G 8: 89,390,440 (GRCm39) E249G probably damaging Het
Npy2r T C 3: 82,448,251 (GRCm39) I175V probably benign Het
Obscn A T 11: 58,946,792 (GRCm39) V4114D probably damaging Het
Or1l8 A T 2: 36,817,820 (GRCm39) M102K probably damaging Het
Or2y12 T A 11: 49,426,504 (GRCm39) M164K possibly damaging Het
Or4a76 A G 2: 89,460,282 (GRCm39) probably null Het
Or52e7 T A 7: 104,684,915 (GRCm39) I170N possibly damaging Het
Or8g33 A G 9: 39,337,503 (GRCm39) M288T probably benign Het
Pbxip1 T A 3: 89,352,921 (GRCm39) I196N probably damaging Het
Piezo1 G A 8: 123,228,890 (GRCm39) T209M possibly damaging Het
Polr1a T C 6: 71,918,368 (GRCm39) M642T probably damaging Het
Prdm4 T C 10: 85,743,686 (GRCm39) M190V probably benign Het
Psmd7 G A 8: 108,307,691 (GRCm39) S264L possibly damaging Het
Qrich1 T G 9: 108,410,846 (GRCm39) probably benign Het
Rapgef4 G T 2: 71,861,520 (GRCm39) probably null Het
Rfx5 T C 3: 94,863,636 (GRCm39) I95T probably damaging Het
Rgr G A 14: 36,767,683 (GRCm39) R113C probably damaging Het
Rnf20 T C 4: 49,645,873 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,369 (GRCm39) A241V probably benign Het
Rttn A T 18: 89,127,481 (GRCm39) probably benign Het
Scn2a A G 2: 65,532,187 (GRCm39) T600A probably damaging Het
Scyl2 T C 10: 89,493,751 (GRCm39) D339G possibly damaging Het
Sipa1 T A 19: 5,701,475 (GRCm39) H1029L probably benign Het
Slc49a4 T C 16: 35,539,736 (GRCm39) T362A probably benign Het
Snrnp48 A G 13: 38,395,081 (GRCm39) T124A probably benign Het
Sptbn1 A T 11: 30,088,637 (GRCm39) M875K possibly damaging Het
Supt6 A G 11: 78,113,024 (GRCm39) V973A possibly damaging Het
Supv3l1 T C 10: 62,279,162 (GRCm39) probably benign Het
Svep1 G T 4: 58,068,740 (GRCm39) N3015K possibly damaging Het
Tgfb3 A G 12: 86,105,841 (GRCm39) probably benign Het
Trerf1 A G 17: 47,628,771 (GRCm39) noncoding transcript Het
Trim24 T A 6: 37,941,761 (GRCm39) F904I probably damaging Het
Trim30d T A 7: 104,121,311 (GRCm39) Y328F probably benign Het
Ttn T C 2: 76,698,717 (GRCm39) E6G probably damaging Het
Ube2m T C 7: 12,769,762 (GRCm39) probably benign Het
Vmn2r-ps158 A T 7: 42,672,639 (GRCm39) R91S probably benign Het
Wdr90 A T 17: 26,079,422 (GRCm39) S237R possibly damaging Het
Zfp735 A T 11: 73,603,159 (GRCm39) H701L possibly damaging Het
Zp1 T C 19: 10,896,242 (GRCm39) D161G probably benign 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
R0426:Ano3 UTSW 2 110,491,519 (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
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'- GTTACCTAACTGGCAATGGGGATGC -3'
(R):5'- GCTTACCATGCTCCCACATCTGAAC -3'

Sequencing Primer
(F):5'- GCAATGGGGATGCTGTTTG -3'
(R):5'- agaaataacgcactggggac -3'
Posted On 2014-03-14