Incidental Mutation 'R7366:Ano3'
ID 571777
Institutional Source Beutler Lab
Gene Symbol Ano3
Ensembl Gene ENSMUSG00000074968
Gene Name anoctamin 3
Synonyms B230324K02Rik, Tmem16c
MMRRC Submission 045450-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7366 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 110485546-110780854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110587412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 43 (Y43C)
Ref Sequence ENSEMBL: ENSMUSP00000122387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099623] [ENSMUST00000140777]
AlphaFold A2AHL1
Predicted Effect probably damaging
Transcript: ENSMUST00000099623
AA Change: Y387C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: Y387C

DomainStartEndE-ValueType
Pfam:Anoct_dimer 156 381 2.9e-70 PFAM
Pfam:Anoctamin 384 950 4.4e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140777
AA Change: Y43C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122387
Gene: ENSMUSG00000074968
AA Change: Y43C

DomainStartEndE-ValueType
Pfam:Anoctamin 40 141 5.7e-24 PFAM
Meta Mutation Damage Score 0.9347 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 99% (94/95)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 73,203,303 (GRCm39) P244S possibly damaging Het
4930562C15Rik A G 16: 4,653,633 (GRCm39) I61V unknown Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Acbd3 A G 1: 180,562,064 (GRCm39) E181G probably benign Het
Aspa T A 11: 73,210,716 (GRCm39) probably null Het
AU018091 A T 7: 3,206,170 (GRCm39) N620K probably damaging Het
Bicc1 G T 10: 70,779,216 (GRCm39) T724K probably benign Het
Bmper T C 9: 23,395,300 (GRCm39) I677T probably damaging Het
C3 T A 17: 57,528,162 (GRCm39) T686S probably benign Het
Cc2d2a G T 5: 43,887,332 (GRCm39) R1315L probably damaging Het
Ccdc150 G T 1: 54,339,541 (GRCm39) E462* probably null Het
Ccdc88c C A 12: 100,911,209 (GRCm39) R875L possibly damaging Het
Cd177 C T 7: 24,456,147 (GRCm39) G207D probably damaging Het
Cdh23 A T 10: 60,151,471 (GRCm39) Y2471* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cmbl A T 15: 31,590,002 (GRCm39) Y244F probably benign Het
Dcaf10 T C 4: 45,373,919 (GRCm39) V448A probably damaging Het
Ddr2 A G 1: 169,825,533 (GRCm39) W356R probably damaging Het
Depdc1a A G 3: 159,228,849 (GRCm39) I534V probably benign Het
Dhtkd1 T A 2: 5,922,717 (GRCm39) I481L probably benign Het
Dlst A T 12: 85,175,089 (GRCm39) I260L probably benign Het
Dnajc13 T G 9: 104,061,905 (GRCm39) K1350Q probably benign Het
Dpp4 T C 2: 62,184,943 (GRCm39) Y520C probably damaging Het
Dr1 C A 5: 108,423,594 (GRCm39) A127E unknown Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
E130308A19Rik T C 4: 59,752,770 (GRCm39) C628R probably damaging Het
Edem3 T A 1: 151,688,365 (GRCm39) probably null Het
Efcab15 T C 11: 103,098,944 (GRCm39) probably null Het
Fam20a T A 11: 109,564,168 (GRCm39) Q528H possibly damaging Het
Fanca T C 8: 124,007,952 (GRCm39) E981G probably benign Het
Fbp2 A G 13: 62,985,012 (GRCm39) V303A possibly damaging Het
Flii C T 11: 60,611,945 (GRCm39) V353M possibly damaging Het
Gm10277 T A 11: 77,676,584 (GRCm39) Y129F unknown Het
Gm3159 A T 14: 4,398,525 (GRCm38) H72L probably benign Het
Gm5114 T G 7: 39,058,768 (GRCm39) T284P possibly damaging Het
Gm7168 T C 17: 14,170,147 (GRCm39) S505P probably damaging Het
Gnal T C 18: 67,344,142 (GRCm39) V239A possibly damaging Het
Gtf2i C T 5: 134,294,603 (GRCm39) E370K probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Il3 T A 11: 54,156,709 (GRCm39) R93S probably benign Het
Itsn1 A G 16: 91,705,338 (GRCm39) E1573G unknown Het
Kif26a G A 12: 112,129,976 (GRCm39) probably null Het
Klb T C 5: 65,529,774 (GRCm39) M434T probably damaging Het
Lrp2 T A 2: 69,314,150 (GRCm39) R2194W probably damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Mak16 A G 8: 31,656,127 (GRCm39) Y119H possibly damaging Het
Map3k19 T A 1: 127,745,192 (GRCm39) M1421L probably damaging Het
Mbd5 A G 2: 49,164,580 (GRCm39) I1186V probably benign Het
Mboat1 T A 13: 30,386,345 (GRCm39) C120S possibly damaging Het
Mctp2 T A 7: 71,908,962 (GRCm39) D117V probably benign Het
Mocos C A 18: 24,809,673 (GRCm39) N425K probably damaging Het
Nav2 A G 7: 49,203,951 (GRCm39) probably null Het
Ngfr A T 11: 95,465,255 (GRCm39) W198R possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Obsl1 T C 1: 75,479,608 (GRCm39) S596G probably damaging Het
Or2ag1 G T 7: 106,472,603 (GRCm39) P283Q probably damaging Het
Or51g1 A T 7: 102,633,723 (GRCm39) I216K probably damaging Het
Or52e3 T G 7: 102,869,740 (GRCm39) Y272D probably benign Het
Or5v1b T A 17: 37,841,708 (GRCm39) V280D probably damaging Het
Or6b3 A G 1: 92,439,400 (GRCm39) S117P possibly damaging Het
Pithd1 T C 4: 135,714,361 (GRCm39) Y29C probably benign Het
Plcb3 T C 19: 6,939,389 (GRCm39) T530A probably benign Het
Prss40 A T 1: 34,598,952 (GRCm39) Y70* probably null Het
Ralgps1 T C 2: 33,214,700 (GRCm39) M61V possibly damaging Het
Rbp4 C T 19: 38,113,410 (GRCm39) R36H possibly damaging Het
Rnf125 A G 18: 21,107,490 (GRCm39) N7S not run Het
Rpe65 G A 3: 159,330,366 (GRCm39) S511N probably benign Het
Rspo4 A T 2: 151,709,793 (GRCm39) Y66F probably damaging Het
Ruvbl2 A G 7: 45,071,573 (GRCm39) S437P probably benign Het
Sele C A 1: 163,876,288 (GRCm39) R12S probably benign Het
Sgo2b T A 8: 64,391,451 (GRCm39) K139* probably null Het
Shroom3 C A 5: 93,112,465 (GRCm39) S1942* probably null Het
Slc12a9 G A 5: 137,326,885 (GRCm39) R191* probably null Het
Spag9 G T 11: 93,999,347 (GRCm39) V1088L possibly damaging Het
Sptb T G 12: 76,650,968 (GRCm39) D1669A probably damaging Het
Sptlc2 A G 12: 87,360,823 (GRCm39) probably null Het
Sult2a8 A T 7: 14,150,254 (GRCm39) probably null Het
Synpo2 A G 3: 122,907,690 (GRCm39) V542A probably damaging Het
Tecpr2 T C 12: 110,881,914 (GRCm39) probably null Het
Tektip1 T C 10: 81,200,025 (GRCm39) D165G possibly damaging Het
Tenm2 T C 11: 35,960,241 (GRCm39) T1029A probably benign Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Tnfaip8l1 C A 17: 56,478,897 (GRCm39) N62K probably damaging Het
Tollip A G 7: 141,443,334 (GRCm39) S174P probably benign Het
Trp53tg5 A G 2: 164,313,027 (GRCm39) I216T possibly damaging Het
Tssk5 A G 15: 76,258,713 (GRCm39) S58P probably benign Het
Ttc9b T C 7: 27,354,384 (GRCm39) Y157H probably damaging Het
Tuba8 A G 6: 121,199,871 (GRCm39) Y185C probably damaging Het
Ubr2 C T 17: 47,266,771 (GRCm39) A1127T probably damaging Het
Urb1 CACTTAC CAC 16: 90,569,461 (GRCm39) probably benign Het
Yipf3 T A 17: 46,559,855 (GRCm39) L57Q possibly damaging Het
Zbtb32 A C 7: 30,289,606 (GRCm39) C19G probably damaging Het
Zfp735 A T 11: 73,602,979 (GRCm39) H641L possibly damaging Het
Zfyve28 A T 5: 34,389,571 (GRCm39) Y210N probably damaging Het
Zpr1 T A 9: 46,184,671 (GRCm39) probably null 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
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
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'- ATTTGCCCTTTCACATAGCAGG -3'
(R):5'- AGTTGATCTCATGTAGTTCCTATCC -3'

Sequencing Primer
(F):5'- CACATAGCAGGTCAAATAATTCGG -3'
(R):5'- GTAGTTCCTATCCACCAAGTTTACAG -3'
Posted On 2019-09-13