Incidental Mutation 'IGL02285:Hcn3'
ID289964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcn3
Ensembl Gene ENSMUSG00000028051
Gene Namehyperpolarization-activated, cyclic nucleotide-gated K+ 3
SynonymsHac3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.419) question?
Stock #IGL02285
Quality Score
Status
Chromosome3
Chromosomal Location89146074-89160196 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89152812 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 175 (D175G)
Ref Sequence ENSEMBL: ENSMUSP00000029686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029686]
Predicted Effect probably damaging
Transcript: ENSMUST00000029686
AA Change: D175G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: D175G

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
Pfam:Ion_trans_N 48 91 1.3e-22 PFAM
Pfam:Ion_trans 92 357 3.7e-25 PFAM
low complexity region 358 369 N/A INTRINSIC
Blast:cNMP 370 402 7e-14 BLAST
cNMP 427 540 2.32e-20 SMART
Blast:cNMP 548 588 2e-17 BLAST
low complexity region 636 656 N/A INTRINSIC
low complexity region 698 717 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133368
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,350,877 V672A possibly damaging Het
Arhgef28 A T 13: 98,051,028 V253D possibly damaging Het
Atg3 G A 16: 45,178,317 probably benign Het
Camsap1 T C 2: 25,929,802 D1557G probably damaging Het
Cdh7 A G 1: 110,138,191 T732A probably damaging Het
Col4a3bp A G 13: 96,616,482 H348R probably benign Het
Cyp3a13 T A 5: 137,909,967 I207F probably benign Het
Dock1 T G 7: 135,081,920 probably null Het
Drc7 A T 8: 95,071,233 probably benign Het
Drosha C A 15: 12,833,864 P18H unknown Het
Fbxl5 A G 5: 43,765,348 S243P possibly damaging Het
Filip1 A G 9: 79,820,126 C404R probably damaging Het
Gm1840 C T 8: 5,640,373 noncoding transcript Het
Gm5745 G A 9: 73,175,498 noncoding transcript Het
Gm7808 T G 9: 19,928,051 probably benign Het
Igkv1-117 A T 6: 68,121,535 M23L probably benign Het
Kif26a A G 12: 112,157,507 D182G probably damaging Het
Lmbr1 A G 5: 29,254,235 probably benign Het
Lypd4 T A 7: 24,865,440 Q91L probably damaging Het
Ncoa5 C T 2: 165,002,840 A37T probably damaging Het
Olfr600 G A 7: 103,346,038 R297* probably null Het
Olfr657 A G 7: 104,635,725 E17G probably benign Het
Olfr829 T A 9: 18,856,990 C122S possibly damaging Het
Ppp1r18 A G 17: 35,867,256 K8E probably damaging Het
Ppp3ca A G 3: 136,928,626 probably benign Het
Ptpn12 T A 5: 21,055,713 Q12L probably benign Het
Rpgrip1l A G 8: 91,232,907 F1122L possibly damaging Het
Rps15 G T 10: 80,293,762 M43I probably benign Het
Rrp15 T C 1: 186,721,395 probably benign Het
Sash1 A T 10: 8,740,334 M588K probably damaging Het
Slc12a7 A G 13: 73,795,595 probably benign Het
Slc25a13 A G 6: 6,042,643 V587A possibly damaging Het
Sugct T C 13: 17,672,596 D34G possibly damaging Het
Tdpoz2 T A 3: 93,652,291 I125F probably damaging Het
Trim52 T A 14: 106,107,268 L120Q probably damaging Het
Vmn1r85 T C 7: 13,084,784 I144M probably damaging Het
Vmn2r107 T C 17: 20,375,561 F792S probably damaging Het
Vsnl1 A G 12: 11,386,877 F34L probably damaging Het
Other mutations in Hcn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Hcn3 APN 3 89147723 missense probably damaging 0.98
IGL02557:Hcn3 APN 3 89149871 missense probably damaging 1.00
R0027:Hcn3 UTSW 3 89159825 missense probably damaging 0.99
R0189:Hcn3 UTSW 3 89148800 missense probably damaging 0.98
R0442:Hcn3 UTSW 3 89151540 missense probably damaging 0.97
R0454:Hcn3 UTSW 3 89152894 missense probably damaging 0.98
R0732:Hcn3 UTSW 3 89148786 missense probably damaging 1.00
R1732:Hcn3 UTSW 3 89148119 missense probably damaging 0.97
R1900:Hcn3 UTSW 3 89148263 missense probably benign 0.00
R2277:Hcn3 UTSW 3 89147861 missense probably benign 0.02
R2279:Hcn3 UTSW 3 89147861 missense probably benign 0.02
R2331:Hcn3 UTSW 3 89148090 missense probably benign 0.01
R2916:Hcn3 UTSW 3 89147613 missense probably benign
R2918:Hcn3 UTSW 3 89147613 missense probably benign
R4604:Hcn3 UTSW 3 89150440 missense probably damaging 1.00
R4749:Hcn3 UTSW 3 89150063 splice site probably null
R5095:Hcn3 UTSW 3 89149923 missense probably damaging 0.99
R5776:Hcn3 UTSW 3 89148105 missense probably benign 0.03
R5984:Hcn3 UTSW 3 89148263 missense probably benign 0.00
R6389:Hcn3 UTSW 3 89150933 missense possibly damaging 0.70
R6736:Hcn3 UTSW 3 89152674 missense probably damaging 1.00
R6860:Hcn3 UTSW 3 89159845 missense possibly damaging 0.73
R6909:Hcn3 UTSW 3 89152629 critical splice donor site probably null
R7549:Hcn3 UTSW 3 89150000 missense probably null 0.51
Posted On2015-04-16