|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 #||R6900 (G1)|
|Chromosomal Location||117602320-117987418 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 117656827 bp|
|Amino Acid Change||Asparagine to Serine at position 205 (N205S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006991 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006991]|
|Predicted Effect||probably benign
AA Change: N205S
PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: N205S
|Meta Mutation Damage Score||0.3050|
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
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'- TGGTTGGAAATTTGGTCATCATACC -3'
(R):5'- AAAACATGCAGCTTACCTCTTC -3'
(F):5'- GGTCATCATACCAGTTGGAATCACG -3'
(R):5'- CCCACTGGTGTATGTATCTGATTAAC -3'