|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 #||R5748 (G1)|
|Chromosomal Location||117602320-117987418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 117976055 bp|
|Amino Acid Change||Serine to Cysteine at position 852 (S852C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006991 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006991]|
|Predicted Effect||probably damaging
AA Change: S852C
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S852C
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
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'- GACACCTGGTAGCTCCACAC -3'
(R):5'- TCTGCTTTGACAATCATCAAGAATC -3'
(F):5'- TGGTAGCTCCACACCGAAAAATG -3'
(R):5'- TCATAAATTCGAAGCAAAACGGG -3'