Incidental Mutation 'R4832:Ano3'
ID 430177
Institutional Source Beutler Lab
Gene Symbol Ano3
Ensembl Gene ENSMUSG00000074968
Gene Name anoctamin 3
Synonyms B230324K02Rik, Tmem16c
MMRRC Submission 042448-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R4832 (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 110498067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 758 (M758K)
Ref Sequence ENSEMBL: ENSMUSP00000097219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099623]
AlphaFold A2AHL1
Predicted Effect probably damaging
Transcript: ENSMUST00000099623
AA Change: M758K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: M758K

DomainStartEndE-ValueType
Pfam:Anoct_dimer 156 381 2.9e-70 PFAM
Pfam:Anoctamin 384 950 4.4e-138 PFAM
Meta Mutation Damage Score 0.8727 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 98% (106/108)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,597 (GRCm39) V186A possibly damaging Het
1700088E04Rik A T 15: 79,019,409 (GRCm39) M198K probably damaging Het
4933402J07Rik A G 8: 88,294,601 (GRCm39) K84R probably null Het
Aamdc T C 7: 97,199,773 (GRCm39) probably null Het
Abcc9 A G 6: 142,617,282 (GRCm39) V594A probably damaging Het
Adamts13 G A 2: 26,879,414 (GRCm39) D656N probably benign Het
Adcy10 G T 1: 165,334,213 (GRCm39) C122F probably damaging Het
Adi1 A G 12: 28,725,252 (GRCm39) M1V probably null Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Akt1 G T 12: 112,623,521 (GRCm39) P313Q probably damaging Het
Baz2a T A 10: 127,958,999 (GRCm39) N1168K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bcap29 A G 12: 31,674,202 (GRCm39) I131T probably benign Het
Brd10 G T 19: 29,694,616 (GRCm39) L1626I possibly damaging Het
Btnl6 T C 17: 34,732,966 (GRCm39) D299G possibly damaging Het
Ccdc66 A G 14: 27,222,524 (GRCm39) I73T probably benign Het
Cdh2 A G 18: 16,760,754 (GRCm39) S538P probably benign Het
Cfap54 T A 10: 92,803,390 (GRCm39) M1551L probably benign Het
Chd2 G A 7: 73,151,873 (GRCm39) A243V probably damaging Het
Cntnap1 T A 11: 101,073,845 (GRCm39) N665K probably damaging Het
Colgalt2 C T 1: 152,360,749 (GRCm39) T262I possibly damaging Het
Cyp24a1 T C 2: 170,338,098 (GRCm39) I149V probably benign Het
Cyp2a5 T A 7: 26,534,970 (GRCm39) probably null Het
Dab2 A G 15: 6,366,080 (GRCm39) probably null Het
Dnah17 T A 11: 117,917,606 (GRCm39) I4158F probably damaging Het
Dnm2 G A 9: 21,385,975 (GRCm39) probably null Het
Dpp7 A T 2: 25,242,398 (GRCm39) probably benign Het
Epha6 T A 16: 59,780,776 (GRCm39) I642F probably damaging Het
Erbb4 T C 1: 68,369,397 (GRCm39) S415G probably benign Het
Fancd2 A G 6: 113,530,683 (GRCm39) T439A probably benign Het
Fat1 G A 8: 45,466,102 (GRCm39) V1431M possibly damaging Het
Fhod3 G A 18: 25,223,305 (GRCm39) A884T probably benign Het
Fsip2 A G 2: 82,820,515 (GRCm39) D5416G possibly damaging Het
Gabarap C T 11: 69,882,678 (GRCm39) probably benign Het
Garre1 T C 7: 33,938,333 (GRCm39) probably benign Het
Gm11544 C T 11: 94,736,532 (GRCm39) noncoding transcript Het
Gnat2 A C 3: 108,007,964 (GRCm39) K304Q probably benign Het
Gpr141b T A 13: 19,913,840 (GRCm39) noncoding transcript Het
Gramd4 C T 15: 86,019,057 (GRCm39) A575V probably benign Het
Gtpbp10 G A 5: 5,589,295 (GRCm39) A274V possibly damaging Het
Gzmb A G 14: 56,497,679 (GRCm39) I187T probably damaging Het
H2-M10.2 G A 17: 36,595,219 (GRCm39) T315I probably damaging Het
Haus5 A T 7: 30,356,452 (GRCm39) F524I probably damaging Het
Herc1 A G 9: 66,403,253 (GRCm39) S4391G probably benign Het
Herc2 T A 7: 55,748,165 (GRCm39) L511* probably null Het
Htt T A 5: 34,982,184 (GRCm39) C923S probably benign Het
Idua T C 5: 108,817,247 (GRCm39) S7P probably benign Het
Ighv16-1 A T 12: 114,032,466 (GRCm39) L112Q probably damaging Het
Igkv1-110 A G 6: 68,248,185 (GRCm39) K98R probably benign Het
Kif15 G A 9: 122,831,191 (GRCm39) probably null Het
Leng9 C A 7: 4,152,029 (GRCm39) G216W probably damaging Het
Lrpprc A G 17: 85,014,584 (GRCm39) L1306S probably benign Het
Lztfl1 C A 9: 123,544,454 (GRCm39) E20D possibly damaging Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Map3k4 C T 17: 12,490,667 (GRCm39) E255K probably damaging Het
Megf9 G A 4: 70,452,665 (GRCm39) T132M probably damaging Het
Mob4 T C 1: 55,184,411 (GRCm39) probably benign Het
Mttp G A 3: 137,821,811 (GRCm39) A252V probably benign Het
Mxi1 A G 19: 53,358,745 (GRCm39) D226G probably damaging Het
Myh14 A G 7: 44,274,566 (GRCm39) S1249P probably benign Het
Mylk G A 16: 34,742,737 (GRCm39) G1083D probably benign Het
Mylk4 T G 13: 32,905,960 (GRCm39) I408L probably benign Het
Nbas A G 12: 13,533,740 (GRCm39) S1792G probably benign Het
Nelfb A G 2: 25,099,981 (GRCm39) V212A probably damaging Het
Nisch T C 14: 30,899,587 (GRCm39) probably benign Het
Nqo1 C G 8: 108,115,477 (GRCm39) D267H probably benign Het
Or8u10 C A 2: 85,915,190 (GRCm39) L310F probably benign Het
Pcid2 T A 8: 13,135,425 (GRCm39) I195F probably damaging Het
Pcnx2 A T 8: 126,478,927 (GRCm39) M2107K probably damaging Het
Pgd A T 4: 149,241,048 (GRCm39) probably benign Het
Prim2 T C 1: 33,503,145 (GRCm39) M430V probably benign Het
Prkaa1 A G 15: 5,190,101 (GRCm39) T40A probably damaging Het
Ptges T C 2: 30,793,232 (GRCm39) probably benign Het
Ptprn T C 1: 75,234,909 (GRCm39) E226G probably benign Het
Rab14 A G 2: 35,079,978 (GRCm39) F55S probably damaging Het
Ralgps2 A T 1: 156,684,637 (GRCm39) probably benign Het
Rgs11 C T 17: 26,426,542 (GRCm39) H258Y probably benign Het
Rhpn2 T C 7: 35,075,774 (GRCm39) probably null Het
Rprd2 A T 3: 95,681,483 (GRCm39) V452E probably damaging Het
Scube3 C A 17: 28,384,989 (GRCm39) H646Q probably damaging Het
Selp A T 1: 163,953,909 (GRCm39) I70F probably damaging Het
Septin2 A G 1: 93,426,849 (GRCm39) I153V probably damaging Het
Sh3rf3 G A 10: 58,649,905 (GRCm39) S170N probably benign Het
Skint4 A T 4: 112,000,963 (GRCm39) I353F possibly damaging Het
Slc16a12 A G 19: 34,657,780 (GRCm39) I41T possibly damaging Het
Snai2 T C 16: 14,524,881 (GRCm39) F129S probably damaging Het
Top3b C T 16: 16,708,526 (GRCm39) R629* probably null Het
Trim17 T A 11: 58,862,270 (GRCm39) V434E probably damaging Het
Ttn G A 2: 76,615,327 (GRCm39) P15051L probably damaging Het
Uggt2 A T 14: 119,239,259 (GRCm39) I1391N probably damaging Het
Usp8 A T 2: 126,596,958 (GRCm39) M923L probably damaging Het
Vmn1r176 T C 7: 23,534,463 (GRCm39) H230R possibly damaging Het
Vmn1r217 C A 13: 23,298,159 (GRCm39) D248Y probably damaging Het
Vmn2r14 A T 5: 109,363,976 (GRCm39) C647S probably damaging Het
Vwa5b1 A G 4: 138,332,851 (GRCm39) I237T probably damaging Het
Zan T A 5: 137,391,423 (GRCm39) D4687V unknown Het
Zfp273 T C 13: 67,973,484 (GRCm39) V204A probably benign Het
Zfp956 T G 6: 47,928,987 (GRCm39) 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
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
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'- AGAGGCTTCATTGTGGCAAC -3'
(R):5'- AGTAACAGGACACATGTACTTGGTC -3'

Sequencing Primer
(F):5'- CATAGGTGAAAGCTCATTGTGCCC -3'
(R):5'- AGGACACATGTACTTGGTCTGCTC -3'
Posted On 2016-09-14