|Institutional Source||Beutler Lab|
|Gene Name||hyperpolarization-activated, cyclic nucleotide-gated K+ 1|
|Synonyms||HAC2, Bcng1, C630013B14Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4504001 (G1)|
|Chromosomal Location||117602320-117987418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 117975875 bp|
|Amino Acid Change||Threonine to Alanine at position 792 (T792A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006991 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006991]|
|PDB Structure||Tetramerization dynamics of the C-terminus underlies isoform-specific cAMP-gating in HCN channels [X-RAY DIFFRACTION]|
|Predicted Effect||possibly damaging
AA Change: T792A
PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: T792A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal. Mice homozygous for another targeted knock-out exhibit deficit in hyperpolarization-activated currents and cold allodynia following partial nerve ligation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hcn1||
(F):5'- GGTACAGCAGACTCAGACTCAG -3'
(R):5'- TCGGAACAAGGTGACACGTTG -3'
(F):5'- TCAGACTCAGCAGCAGCAG -3'
(R):5'- ACACGTTGTGGCACTGTGC -3'