Incidental Mutation 'R9699:Ano5'
ID 729476
Institutional Source Beutler Lab
Gene Symbol Ano5
Ensembl Gene ENSMUSG00000055489
Gene Name anoctamin 5
Synonyms Tmem16e, Gdd1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R9699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 51160777-51248457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51229309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 617 (N617I)
Ref Sequence ENSEMBL: ENSMUSP00000046884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]
AlphaFold Q75UR0
Predicted Effect probably damaging
Transcript: ENSMUST00000043944
AA Change: N617I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: N617I

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: N584I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207717
AA Change: N567I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik G T 1: 57,416,927 (GRCm39) R33L probably benign Het
Abhd16b A T 2: 181,136,518 (GRCm39) R473S probably benign Het
Adcyap1r1 A G 6: 55,474,140 (GRCm39) D492G probably damaging Het
Cdh15 A G 8: 123,588,769 (GRCm39) E281G probably benign Het
Clasp2 T A 9: 113,738,614 (GRCm39) probably null Het
Dock8 G A 19: 25,133,388 (GRCm39) probably null Het
Dscaml1 T C 9: 45,654,315 (GRCm39) V1449A probably damaging Het
Ercc6 A G 14: 32,282,703 (GRCm39) D732G probably damaging Het
Fam174c T A 10: 80,010,161 (GRCm39) probably null Het
Fhip2b A T 14: 70,825,179 (GRCm39) S386T possibly damaging Het
Gimap6 T C 6: 48,684,951 (GRCm39) E45G probably benign Het
Glt1d1 C A 5: 127,771,364 (GRCm39) T285K probably damaging Het
Gm14412 A T 2: 177,007,636 (GRCm39) Y86* probably null Het
Grip2 A G 6: 91,742,318 (GRCm39) S912P probably benign Het
Gucy2d T A 7: 98,108,290 (GRCm39) I741N probably damaging Het
Hrh2 A T 13: 54,368,299 (GRCm39) N92Y probably damaging Het
Klrc2 T A 6: 129,637,452 (GRCm39) Q23L possibly damaging Het
Patl2 T C 2: 121,955,591 (GRCm39) D285G probably damaging Het
Prpf40a A G 2: 53,035,735 (GRCm39) V685A probably benign Het
Rspry1 A G 8: 95,380,857 (GRCm39) H511R probably benign Het
Scarb1 G T 5: 125,374,296 (GRCm39) A279E probably damaging Het
Sell A G 1: 163,893,114 (GRCm39) E110G probably damaging Het
Sftpc A T 14: 70,760,143 (GRCm39) I38N probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc5a4b C A 10: 75,946,674 (GRCm39) V33F probably damaging Het
Smad7 A G 18: 75,527,161 (GRCm39) S336G probably damaging Het
Tnpo3 C T 6: 29,565,768 (GRCm39) V529I probably benign Het
Trafd1 A G 5: 121,517,727 (GRCm39) V22A probably benign Het
Tssk1 A G 16: 17,712,545 (GRCm39) E110G probably damaging Het
Vmn1r159 A T 7: 22,542,675 (GRCm39) V119D probably damaging Het
Vmn1r191 A G 13: 22,363,355 (GRCm39) F133S probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp830 C T 11: 82,655,805 (GRCm39) T203I possibly damaging Het
Zw10 G T 9: 48,966,942 (GRCm39) probably benign 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
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
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'- TGTAACAAAATTCTCATTCTCCACC -3'
(R):5'- GAACATGAATTATTTCTGTTTGCACA -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- GAAAGGACCCTGATATAGCTGTCTC -3'
Posted On 2022-10-06