Incidental Mutation 'R1496:Ano5'
ID 168863
Institutional Source Beutler Lab
Gene Symbol Ano5
Ensembl Gene ENSMUSG00000055489
Gene Name anoctamin 5
Synonyms Tmem16e, Gdd1
MMRRC Submission 039547-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R1496 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 51160777-51248457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51233523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 595 (R595H)
Ref Sequence ENSEMBL: ENSMUSP00000146783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]
AlphaFold Q75UR0
Predicted Effect probably damaging
Transcript: ENSMUST00000043944
AA Change: R645H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: R645H

DomainStartEndE-ValueType
low complexity region 42 55 N/A INTRINSIC
Pfam:Anoct_dimer 64 280 7.7e-70 PFAM
Pfam:Anoctamin 283 860 6.5e-138 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207044
AA Change: R612H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207717
AA Change: R595H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 98% (94/96)
MGI Phenotype FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,221,552 (GRCm39) probably benign Het
4933411K16Rik T C 19: 42,041,489 (GRCm39) Y207H probably damaging Het
Abcc1 T A 16: 14,266,298 (GRCm39) L832Q probably damaging Het
Acan T A 7: 78,750,552 (GRCm39) H1774Q probably benign Het
Adss2 T C 1: 177,599,760 (GRCm39) T275A probably benign Het
Araf G T X: 20,725,943 (GRCm39) R522L probably damaging Het
Arhgef28 C T 13: 98,102,054 (GRCm39) V807I possibly damaging Het
Bin1 T C 18: 32,545,757 (GRCm39) I103T probably damaging Het
C4b C T 17: 34,958,995 (GRCm39) R478Q probably benign Het
Cacna1b G A 2: 24,568,047 (GRCm39) P1015S probably benign Het
Capn1 A G 19: 6,057,528 (GRCm39) probably null Het
Cep290 A G 10: 100,374,828 (GRCm39) Q1358R probably damaging Het
Cfap126 T C 1: 170,953,386 (GRCm39) probably benign Het
Chn1 T C 2: 73,509,951 (GRCm39) probably benign Het
Cldn8 T C 16: 88,359,289 (GRCm39) E212G probably benign Het
Cpb1 T C 3: 20,317,696 (GRCm39) N249S probably damaging Het
Cxcr6 A T 9: 123,639,412 (GRCm39) I138F probably benign Het
Dab2ip G A 2: 35,608,803 (GRCm39) R579H probably damaging Het
Dcaf8 T C 1: 172,021,422 (GRCm39) M538T probably benign Het
Dhrs4 T G 14: 55,725,107 (GRCm39) L201V probably damaging Het
Dnah12 C T 14: 26,431,403 (GRCm39) A407V probably benign Het
Elavl3 T A 9: 21,937,461 (GRCm39) probably benign Het
Elp4 T C 2: 105,662,506 (GRCm39) H88R probably benign Het
Ercc3 T C 18: 32,394,350 (GRCm39) probably benign Het
Eri1 A G 8: 35,936,335 (GRCm39) S329P possibly damaging Het
Erich2 A T 2: 70,343,117 (GRCm39) probably benign Het
Esyt1 A G 10: 128,348,297 (GRCm39) S864P possibly damaging Het
Fam170b A G 14: 32,557,588 (GRCm39) E141G probably damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbn1 T C 2: 125,151,415 (GRCm39) T2531A probably benign Het
Fgfr3 T C 5: 33,887,094 (GRCm39) V166A probably damaging Het
Glt8d2 T C 10: 82,495,372 (GRCm39) D194G probably damaging Het
Gpr89 A G 3: 96,812,526 (GRCm39) I5T probably benign Het
Gpx6 A T 13: 21,503,090 (GRCm39) H168L probably benign Het
Gusb T C 5: 130,027,385 (GRCm39) T307A probably benign Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Ifngr1 A G 10: 19,477,193 (GRCm39) D118G probably benign Het
Ipcef1 A T 10: 6,885,173 (GRCm39) probably null Het
Kbtbd3 A T 9: 4,330,276 (GRCm39) T217S probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Lrp1 T C 10: 127,374,880 (GRCm39) D4526G probably damaging Het
Lrp1b A T 2: 42,213,674 (GRCm39) V46D probably damaging Het
Lsm8 T A 6: 18,849,658 (GRCm39) M22K probably benign Het
Map1lc3b C T 8: 122,323,339 (GRCm39) R70C possibly damaging Het
Meiob T A 17: 25,032,026 (GRCm39) S14T possibly damaging Het
Mkx G T 18: 6,992,330 (GRCm39) Y183* probably null Het
Mrs2 T C 13: 25,189,017 (GRCm39) Y99C probably benign Het
Mycbpap T C 11: 94,396,387 (GRCm39) K151R probably benign Het
Neb T G 2: 52,218,746 (GRCm39) Q88P probably damaging Het
Noc4l T A 5: 110,797,944 (GRCm39) H319L probably damaging Het
Nt5c2 G A 19: 46,893,417 (GRCm39) T122I probably damaging Het
Nuggc A T 14: 65,861,582 (GRCm39) N476I probably damaging Het
Obscn T A 11: 58,921,862 (GRCm39) H5978L probably benign Het
Oc90 G T 15: 65,748,370 (GRCm39) A412D probably damaging Het
Or2l13b T A 16: 19,349,133 (GRCm39) D179V possibly damaging Het
Or3a4 A G 11: 73,944,650 (GRCm39) *312Q probably null Het
Or4a76 A G 2: 89,460,358 (GRCm39) S295P possibly damaging Het
Or5w18 T G 2: 87,633,212 (GRCm39) S160A probably benign Het
Or7a42 T A 10: 78,791,682 (GRCm39) S214R probably benign Het
Or8k33 A T 2: 86,384,096 (GRCm39) V124E probably damaging Het
Pdzrn3 A T 6: 101,127,930 (GRCm39) V912E probably benign Het
Phactr1 T A 13: 43,248,466 (GRCm39) Y387N probably damaging Het
Picalm T A 7: 89,779,859 (GRCm39) C27S probably benign Het
Pkd1l1 T A 11: 8,891,077 (GRCm39) I314F possibly damaging Het
Pold2 T C 11: 5,824,175 (GRCm39) E210G possibly damaging Het
Ptprz1 C T 6: 23,049,523 (GRCm39) probably benign Het
Rac1 G T 5: 143,493,093 (GRCm39) A165E probably damaging Het
Rpap3 G T 15: 97,584,364 (GRCm39) T360K possibly damaging Het
Scn9a G A 2: 66,357,232 (GRCm39) T1012I probably benign Het
Sdad1 A G 5: 92,457,682 (GRCm39) I20T possibly damaging Het
Setbp1 T G 18: 78,903,127 (GRCm39) K180T probably damaging Het
Sgpl1 T C 10: 60,938,368 (GRCm39) N475S probably damaging Het
Shroom3 T C 5: 93,090,693 (GRCm39) S1148P possibly damaging Het
Sin3a T A 9: 57,026,442 (GRCm39) H1119Q possibly damaging Het
Slc26a7 T A 4: 14,506,489 (GRCm39) Y620F probably benign Het
Slc4a1 T C 11: 102,251,997 (GRCm39) I36V probably benign Het
Smarca2 C G 19: 26,608,501 (GRCm39) P263A possibly damaging Het
Sp100 T C 1: 85,591,242 (GRCm39) probably benign Het
Spag6l A G 16: 16,598,478 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,071,498 (GRCm39) N1491S probably damaging Het
Tbl1xr1 T G 3: 22,245,115 (GRCm39) V155G possibly damaging Het
Tmc1 A G 19: 20,845,719 (GRCm39) I168T probably damaging Het
Tmem87b G A 2: 128,668,313 (GRCm39) probably null Het
Tnfrsf9 T A 4: 151,017,561 (GRCm39) probably null Het
Tnni3k T C 3: 154,645,295 (GRCm39) D530G probably damaging Het
Vmn1r209 G A 13: 22,989,934 (GRCm39) S252F probably damaging Het
Zbtb3 A T 19: 8,780,714 (GRCm39) N109I probably damaging Het
Zdhhc17 T G 10: 110,782,071 (GRCm39) H541P probably damaging Het
Zfp84 A G 7: 29,476,039 (GRCm39) I244V possibly damaging Het
Zyx A G 6: 42,333,246 (GRCm39) Y393C probably damaging Het
Other mutations in Ano5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00653:Ano5 APN 7 51,216,261 (GRCm39) missense probably damaging 0.96
IGL01328:Ano5 APN 7 51,206,019 (GRCm39) critical splice donor site probably null
IGL01800:Ano5 APN 7 51,222,823 (GRCm39) critical splice donor site probably null
IGL01888:Ano5 APN 7 51,216,048 (GRCm39) missense probably benign 0.06
IGL02221:Ano5 APN 7 51,220,071 (GRCm39) missense probably damaging 1.00
IGL02538:Ano5 APN 7 51,233,523 (GRCm39) missense probably damaging 1.00
IGL03027:Ano5 APN 7 51,216,025 (GRCm39) missense probably damaging 0.99
IGL03133:Ano5 APN 7 51,226,260 (GRCm39) nonsense probably null
IGL03167:Ano5 APN 7 51,235,259 (GRCm39) missense probably damaging 0.98
IGL03233:Ano5 APN 7 51,220,116 (GRCm39) missense probably damaging 1.00
PIT4466001:Ano5 UTSW 7 51,194,599 (GRCm39) missense probably damaging 1.00
R0233:Ano5 UTSW 7 51,185,218 (GRCm39) missense possibly damaging 0.94
R0233:Ano5 UTSW 7 51,185,218 (GRCm39) missense possibly damaging 0.94
R0675:Ano5 UTSW 7 51,224,558 (GRCm39) missense probably damaging 1.00
R0723:Ano5 UTSW 7 51,237,506 (GRCm39) missense probably benign 0.20
R0764:Ano5 UTSW 7 51,187,590 (GRCm39) splice site probably benign
R1159:Ano5 UTSW 7 51,229,222 (GRCm39) splice site probably benign
R1218:Ano5 UTSW 7 51,220,169 (GRCm39) splice site probably null
R1288:Ano5 UTSW 7 51,196,620 (GRCm39) missense probably damaging 1.00
R1329:Ano5 UTSW 7 51,196,533 (GRCm39) missense probably benign
R1484:Ano5 UTSW 7 51,216,068 (GRCm39) missense probably damaging 1.00
R1512:Ano5 UTSW 7 51,229,316 (GRCm39) missense probably benign 0.00
R1691:Ano5 UTSW 7 51,240,327 (GRCm39) missense probably damaging 1.00
R1859:Ano5 UTSW 7 51,196,581 (GRCm39) missense probably damaging 1.00
R1991:Ano5 UTSW 7 51,187,561 (GRCm39) missense possibly damaging 0.59
R2066:Ano5 UTSW 7 51,235,134 (GRCm39) missense probably damaging 1.00
R2088:Ano5 UTSW 7 51,237,454 (GRCm39) missense possibly damaging 0.50
R2103:Ano5 UTSW 7 51,187,561 (GRCm39) missense possibly damaging 0.59
R2248:Ano5 UTSW 7 51,243,537 (GRCm39) missense probably benign 0.00
R3692:Ano5 UTSW 7 51,240,327 (GRCm39) missense probably damaging 1.00
R3723:Ano5 UTSW 7 51,226,276 (GRCm39) missense probably damaging 1.00
R3805:Ano5 UTSW 7 51,226,398 (GRCm39) missense probably benign 0.22
R3883:Ano5 UTSW 7 51,216,052 (GRCm39) missense probably damaging 1.00
R3978:Ano5 UTSW 7 51,237,554 (GRCm39) missense probably benign
R4035:Ano5 UTSW 7 51,216,233 (GRCm39) splice site probably benign
R4239:Ano5 UTSW 7 51,237,414 (GRCm39) missense probably damaging 0.99
R4466:Ano5 UTSW 7 51,220,023 (GRCm39) missense probably damaging 1.00
R4644:Ano5 UTSW 7 51,237,433 (GRCm39) nonsense probably null
R5021:Ano5 UTSW 7 51,205,933 (GRCm39) missense probably benign
R5028:Ano5 UTSW 7 51,187,458 (GRCm39) splice site probably null
R5609:Ano5 UTSW 7 51,243,385 (GRCm39) missense probably damaging 1.00
R5659:Ano5 UTSW 7 51,233,562 (GRCm39) missense possibly damaging 0.94
R5660:Ano5 UTSW 7 51,233,562 (GRCm39) missense possibly damaging 0.94
R5680:Ano5 UTSW 7 51,233,562 (GRCm39) missense possibly damaging 0.94
R5786:Ano5 UTSW 7 51,216,066 (GRCm39) missense possibly damaging 0.88
R5787:Ano5 UTSW 7 51,216,066 (GRCm39) missense possibly damaging 0.88
R5788:Ano5 UTSW 7 51,216,066 (GRCm39) missense possibly damaging 0.88
R5856:Ano5 UTSW 7 51,235,074 (GRCm39) missense probably benign 0.01
R5930:Ano5 UTSW 7 51,235,079 (GRCm39) missense probably damaging 0.99
R5984:Ano5 UTSW 7 51,243,412 (GRCm39) missense probably damaging 1.00
R6015:Ano5 UTSW 7 51,224,525 (GRCm39) missense probably benign 0.00
R6030:Ano5 UTSW 7 51,224,573 (GRCm39) missense probably damaging 1.00
R6030:Ano5 UTSW 7 51,224,573 (GRCm39) missense probably damaging 1.00
R6247:Ano5 UTSW 7 51,215,879 (GRCm39) splice site probably null
R7552:Ano5 UTSW 7 51,196,528 (GRCm39) missense probably benign 0.31
R7559:Ano5 UTSW 7 51,224,636 (GRCm39) missense probably damaging 1.00
R7712:Ano5 UTSW 7 51,240,403 (GRCm39) missense probably damaging 1.00
R7712:Ano5 UTSW 7 51,222,805 (GRCm39) missense probably benign 0.00
R7805:Ano5 UTSW 7 51,187,548 (GRCm39) missense probably damaging 0.97
R7808:Ano5 UTSW 7 51,237,543 (GRCm39) missense possibly damaging 0.53
R7840:Ano5 UTSW 7 51,237,480 (GRCm39) missense possibly damaging 0.88
R7886:Ano5 UTSW 7 51,220,141 (GRCm39) missense probably benign 0.12
R7975:Ano5 UTSW 7 51,216,286 (GRCm39) missense probably null 0.98
R8006:Ano5 UTSW 7 51,243,518 (GRCm39) missense probably benign 0.05
R8060:Ano5 UTSW 7 51,237,531 (GRCm39) missense probably benign 0.01
R8084:Ano5 UTSW 7 51,229,287 (GRCm39) missense probably benign 0.01
R8351:Ano5 UTSW 7 51,203,626 (GRCm39) missense probably benign 0.10
R8504:Ano5 UTSW 7 51,222,776 (GRCm39) missense probably benign 0.01
R8699:Ano5 UTSW 7 51,243,519 (GRCm39) missense probably benign
R8710:Ano5 UTSW 7 51,243,419 (GRCm39) missense probably damaging 1.00
R8752:Ano5 UTSW 7 51,196,617 (GRCm39) missense probably damaging 1.00
R8771:Ano5 UTSW 7 51,220,047 (GRCm39) nonsense probably null
R8771:Ano5 UTSW 7 51,216,095 (GRCm39) missense probably damaging 0.99
R8815:Ano5 UTSW 7 51,194,548 (GRCm39) nonsense probably null
R9057:Ano5 UTSW 7 51,203,654 (GRCm39) missense probably benign 0.05
R9118:Ano5 UTSW 7 51,220,122 (GRCm39) missense probably damaging 0.99
R9217:Ano5 UTSW 7 51,243,415 (GRCm39) missense probably damaging 1.00
R9462:Ano5 UTSW 7 51,235,200 (GRCm39) missense probably benign 0.19
R9699:Ano5 UTSW 7 51,229,309 (GRCm39) missense probably damaging 1.00
X0062:Ano5 UTSW 7 51,243,399 (GRCm39) nonsense probably null
X0065:Ano5 UTSW 7 51,226,376 (GRCm39) nonsense probably null
Z1176:Ano5 UTSW 7 51,224,451 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAAGCCCTGACCACCTTCCTTAATATG -3'
(R):5'- CCAGTAGTCATCATTCATTCATCTGCCA -3'

Sequencing Primer
(F):5'- TTAACCTAAGTACCACCACTTGTG -3'
(R):5'- ccatccatccatccatccatc -3'
Posted On 2014-04-13