Incidental Mutation 'R0233:Ano5'
ID 58893
Institutional Source Beutler Lab
Gene Symbol Ano5
Ensembl Gene ENSMUSG00000055489
Gene Name anoctamin 5
Synonyms Tmem16e, Gdd1
MMRRC Submission 038474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0233 (G1)
Quality Score 207
Status Validated
Chromosome 7
Chromosomal Location 51160777-51248457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51185218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 46 (F46S)
Ref Sequence ENSEMBL: ENSMUSP00000046884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]
AlphaFold Q75UR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000043944
AA Change: F46S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: F46S

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 benign
Transcript: ENSMUST00000207044
Predicted Effect probably benign
Transcript: ENSMUST00000207717
Meta Mutation Damage Score 0.1324 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency 99% (93/94)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,330 (GRCm39) S212P probably benign Het
A730018C14Rik A C 12: 112,381,864 (GRCm39) noncoding transcript Het
Acsf3 A G 8: 123,507,031 (GRCm39) Y108C probably damaging Het
Acsl1 A G 8: 46,966,606 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,097 (GRCm39) I389N possibly damaging Het
Ankrd27 T C 7: 35,300,985 (GRCm39) L95P probably damaging Het
Ap2a1 T C 7: 44,565,397 (GRCm39) N114S probably damaging Het
Arap1 C T 7: 101,049,448 (GRCm39) S970L possibly damaging Het
Atad3a A T 4: 155,830,524 (GRCm39) S525T probably damaging Het
B4galnt1 T C 10: 127,006,780 (GRCm39) probably benign Het
Bltp1 T A 3: 37,002,712 (GRCm39) C1552* probably null Het
Cacna2d2 A T 9: 107,391,869 (GRCm39) I463F probably damaging Het
Casp6 T A 3: 129,699,624 (GRCm39) N34K probably damaging Het
Ccdc175 A T 12: 72,152,650 (GRCm39) F752I probably benign Het
Cdhr4 A G 9: 107,874,133 (GRCm39) I76V probably benign Het
Copa T C 1: 171,915,234 (GRCm39) probably null Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Cuzd1 C A 7: 130,913,545 (GRCm39) K357N possibly damaging Het
Dnah5 T A 15: 28,333,216 (GRCm39) F2206I probably damaging Het
Dnase2b T A 3: 146,288,305 (GRCm39) K263N probably benign Het
Dync1h1 T A 12: 110,607,414 (GRCm39) D2668E probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam124b T C 1: 80,190,703 (GRCm39) S227G probably damaging Het
Fam13b T A 18: 34,581,137 (GRCm39) Y675F probably damaging Het
Fgf21 T A 7: 45,264,721 (GRCm39) M4L probably benign Het
Flg2 T A 3: 93,109,104 (GRCm39) C377* probably null Het
Foxp2 T C 6: 15,409,752 (GRCm39) S451P probably damaging Het
Gli2 A T 1: 118,763,655 (GRCm39) S1499T probably damaging Het
Gm9920 A T 15: 54,975,857 (GRCm39) probably benign Het
Gpx5 T A 13: 21,471,573 (GRCm39) D210V probably damaging Het
H2-T5 A G 17: 36,478,361 (GRCm39) Y224H probably benign Het
Hoxb5 T A 11: 96,195,853 (GRCm39) S234T probably benign Het
Irf9 C A 14: 55,843,551 (GRCm39) N140K probably benign Het
Isg20 C A 7: 78,566,334 (GRCm39) D94E probably damaging Het
Isg20 C T 7: 78,564,243 (GRCm39) T50M probably damaging Het
Izumo1 T C 7: 45,273,592 (GRCm39) L115P probably damaging Het
Kdm3b G A 18: 34,942,473 (GRCm39) E655K probably damaging Het
Kdm5b T G 1: 134,532,372 (GRCm39) probably benign Het
Kifc3 A G 8: 95,828,100 (GRCm39) probably null Het
Kpna2 T C 11: 106,883,457 (GRCm39) S111G probably benign Het
Krt73 A T 15: 101,710,451 (GRCm39) N94K probably benign Het
Lgmn G T 12: 102,366,248 (GRCm39) D247E probably damaging Het
Lilra6 C T 7: 3,917,935 (GRCm39) V70I possibly damaging Het
Lrig3 G A 10: 125,849,395 (GRCm39) probably null Het
Lrrc4 T C 6: 28,829,734 (GRCm39) H627R probably benign Het
Macf1 G A 4: 123,343,920 (GRCm39) probably benign Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nutm2 A G 13: 50,621,441 (GRCm39) D2G probably benign Het
Or10j3b A T 1: 173,043,868 (GRCm39) I217F probably benign Het
Or5h23 A T 16: 58,906,038 (GRCm39) D269E probably benign Het
Or5w8 A G 2: 87,688,096 (GRCm39) I192M probably benign Het
Parl G A 16: 20,106,657 (GRCm39) P184L probably damaging Het
Pdzd8 A T 19: 59,288,811 (GRCm39) M863K probably damaging Het
Phlda3 T C 1: 135,694,559 (GRCm39) S125P probably damaging Het
Pkd1l3 A T 8: 110,377,412 (GRCm39) R217* probably null Het
Plekhg5 T C 4: 152,196,676 (GRCm39) C695R probably damaging Het
Pramel24 A T 4: 143,452,633 (GRCm39) E21D possibly damaging Het
Prg4 T C 1: 150,329,298 (GRCm39) probably benign Het
Prkab1 A G 5: 116,159,711 (GRCm39) probably benign Het
Pyroxd1 A G 6: 142,300,356 (GRCm39) E162G possibly damaging Het
R3hcc1l G A 19: 42,571,360 (GRCm39) probably null Het
Rgs12 T A 5: 35,187,842 (GRCm39) S500T probably damaging Het
Ripor3 T C 2: 167,834,518 (GRCm39) D299G probably damaging Het
Robo4 T C 9: 37,313,977 (GRCm39) L76P probably damaging Het
Sbno1 T C 5: 124,514,289 (GRCm39) Y1302C probably damaging Het
Sec63 A G 10: 42,699,904 (GRCm39) I655V possibly damaging Het
Serpina11 T A 12: 103,946,729 (GRCm39) M389L probably benign Het
Sfswap C A 5: 129,631,607 (GRCm39) P745Q possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slitrk3 C T 3: 72,955,910 (GRCm39) S954N probably benign Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Sos2 A T 12: 69,664,104 (GRCm39) I460N probably benign Het
Spink7 T A 18: 62,727,423 (GRCm39) I34L probably benign Het
Srbd1 A G 17: 86,365,173 (GRCm39) S628P probably damaging Het
Srm G A 4: 148,677,829 (GRCm39) G156S probably damaging Het
Sulf2 T C 2: 165,927,589 (GRCm39) probably benign Het
Tmc4 T A 7: 3,669,866 (GRCm39) Y6F probably benign Het
Tmcc2 A G 1: 132,288,389 (GRCm39) F433L probably damaging Het
Tmprss13 T G 9: 45,248,398 (GRCm39) probably benign Het
Tnxb T C 17: 34,918,007 (GRCm39) F2307L probably benign Het
Tsr3 A G 17: 25,461,484 (GRCm39) E274G probably benign Het
Ttn T C 2: 76,725,488 (GRCm39) probably benign Het
Tub T C 7: 108,628,548 (GRCm39) V352A possibly damaging Het
Tubb2a A G 13: 34,259,325 (GRCm39) I155T possibly damaging Het
Ugt2a2 T C 5: 87,622,860 (GRCm39) N36S probably damaging Het
Usp13 T A 3: 32,969,813 (GRCm39) probably null Het
Vmn1r52 T G 6: 90,156,593 (GRCm39) L120R possibly damaging Het
Vmn2r11 A T 5: 109,201,968 (GRCm39) S179T probably benign Het
Vwf A T 6: 125,663,473 (GRCm39) R2805W possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp286 T C 11: 62,671,219 (GRCm39) T285A possibly 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
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
R1496:Ano5 UTSW 7 51,233,523 (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'- AAACTCCTTCCAGTAGGTGGTGGC -3'
(R):5'- TTTGCACTCAGGTAGGGAACAGGC -3'

Sequencing Primer
(F):5'- TTTAAGGAAGCAAACCCCTGC -3'
(R):5'- CAGGTAGGGAACAGGCTCATC -3'
Posted On 2013-07-11