Incidental Mutation 'R2281:Ano3'
ID 243097
Institutional Source Beutler Lab
Gene Symbol Ano3
Ensembl Gene ENSMUSG00000074968
Gene Name anoctamin 3
Synonyms B230324K02Rik, Tmem16c
MMRRC Submission 040280-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2281 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 110485546-110780854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110513104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 630 (E630D)
Ref Sequence ENSEMBL: ENSMUSP00000097219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099623]
AlphaFold A2AHL1
Predicted Effect probably benign
Transcript: ENSMUST00000099623
AA Change: E630D

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: E630D

DomainStartEndE-ValueType
Pfam:Anoct_dimer 156 381 2.9e-70 PFAM
Pfam:Anoctamin 384 950 4.4e-138 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,352,179 (GRCm39) L228S probably damaging Het
Abca13 A T 11: 9,278,136 (GRCm39) K3105N probably damaging Het
Abca3 T A 17: 24,595,700 (GRCm39) L351Q possibly damaging Het
Acadm A G 3: 153,638,680 (GRCm39) I231T possibly damaging Het
Adamts4 A T 1: 171,083,798 (GRCm39) Q456L probably damaging Het
Adgra3 C T 5: 50,159,222 (GRCm39) V343I probably benign Het
Ajuba C A 14: 54,814,645 (GRCm39) G26V probably damaging Het
Aldh1a1 A G 19: 20,597,455 (GRCm39) I145M possibly damaging Het
Ankrd42 G A 7: 92,274,981 (GRCm39) Q110* probably null Het
Ap3d1 T C 10: 80,549,832 (GRCm39) D771G probably damaging Het
Arhgap30 A G 1: 171,216,896 (GRCm39) D21G probably damaging Het
Atg13 T C 2: 91,509,770 (GRCm39) N374S probably benign Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cdh5 A G 8: 104,852,365 (GRCm39) E160G probably damaging Het
Cpd T C 11: 76,688,627 (GRCm39) K882E probably benign Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp27b1 T G 10: 126,884,163 (GRCm39) V5G probably damaging Het
Dcaf11 G T 14: 55,806,828 (GRCm39) *550Y probably null Het
Dhx58 A G 11: 100,588,980 (GRCm39) probably null Het
Dlg2 T A 7: 92,087,249 (GRCm39) I881N probably damaging Het
Ece1 C T 4: 137,673,673 (GRCm39) T407M possibly damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Egln1 T C 8: 125,675,153 (GRCm39) D214G probably benign Het
Espn T C 4: 152,220,002 (GRCm39) T47A possibly damaging Het
F5 A G 1: 164,023,289 (GRCm39) I1616V possibly damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Gabrg2 T C 11: 41,867,463 (GRCm39) K52R possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Glod4 A T 11: 76,128,635 (GRCm39) I70N possibly damaging Het
Gsn T A 2: 35,173,930 (GRCm39) V2E probably benign Het
H1f2 A G 13: 23,922,907 (GRCm39) K26E probably benign Het
Hrg C T 16: 22,780,059 (GRCm39) probably benign Het
Kctd19 T C 8: 106,113,898 (GRCm39) T592A probably benign Het
Kdm3b A G 18: 34,941,472 (GRCm39) D521G probably damaging Het
Lrba A G 3: 86,683,410 (GRCm39) H2744R possibly damaging Het
Lsr C T 7: 30,657,770 (GRCm39) A397T probably damaging Het
Methig1 A T 15: 100,251,241 (GRCm39) M51L possibly damaging Het
Mga A G 2: 119,734,204 (GRCm39) I351V probably benign Het
Mlf1 G A 3: 67,307,084 (GRCm39) V250I possibly damaging Het
Mreg A T 1: 72,231,223 (GRCm39) N78K probably damaging Het
Mtor A G 4: 148,574,012 (GRCm39) D1294G probably benign Het
Nfkb1 T C 3: 135,307,282 (GRCm39) I548V probably damaging Het
Nlrp3 T C 11: 59,439,962 (GRCm39) F513S possibly damaging Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Nr3c2 C A 8: 77,636,536 (GRCm39) H546N probably damaging Het
Nr4a2 T A 2: 57,002,211 (GRCm39) M18L probably benign Het
Or2y1f A C 11: 49,184,459 (GRCm39) T104P probably benign Het
Or4c109 G A 2: 88,817,814 (GRCm39) T244I probably benign Het
Pclo A G 5: 14,590,346 (GRCm39) N882S unknown Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Ptger2 G T 14: 45,227,107 (GRCm39) R229L probably damaging Het
Ptpru C A 4: 131,535,810 (GRCm39) G389V probably damaging Het
Ric8a A G 7: 140,441,851 (GRCm39) N249S probably benign Het
Slc26a5 A G 5: 22,036,508 (GRCm39) I266T possibly damaging Het
Smyd1 T C 6: 71,215,660 (GRCm39) N100D probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Stag3 T C 5: 138,296,546 (GRCm39) F468S probably damaging Het
Stk31 C T 6: 49,394,184 (GRCm39) T182I probably damaging Het
Svep1 G T 4: 58,082,677 (GRCm39) N1982K possibly damaging Het
Tinagl1 A G 4: 130,060,786 (GRCm39) Y344H probably damaging Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Ube4b A G 4: 149,429,029 (GRCm39) I870T probably damaging Het
Vwa8 T A 14: 79,302,436 (GRCm39) L1035Q possibly damaging Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Wnk1 A T 6: 119,940,601 (GRCm39) probably null Het
Zc3h7a T C 16: 10,976,458 (GRCm39) probably benign Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A probably 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
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
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
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'- TAACTGGCAATGGGGATGC -3'
(R):5'- TCCACACTAGAATCTTCCCATAGTG -3'

Sequencing Primer
(F):5'- CTGGCAATGGGGATGCTGTTTG -3'
(R):5'- TCCCATAGTGTTTTTCATATGCAAC -3'
Posted On 2014-10-16