Incidental Mutation 'R1558:Hcn1'
ID 170443
Institutional Source Beutler Lab
Gene Symbol Hcn1
Ensembl Gene ENSMUSG00000021730
Gene Name hyperpolarization activated cyclic nucleotide gated potassium channel 1
Synonyms C630013B14Rik, HAC2, hyperpolarization-activated, cyclic nucleotide-gated K+ 1, Bcng1
MMRRC Submission 039597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1558 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 117738856-118117564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118112112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 692 (V692A)
Ref Sequence ENSEMBL: ENSMUSP00000006991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006991]
AlphaFold O88704
PDB Structure Tetramerization dynamics of the C-terminus underlies isoform-specific cAMP-gating in HCN channels [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000006991
AA Change: V692A
SMART Domains Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: V692A

DomainStartEndE-ValueType
Pfam:Ion_trans_N 87 130 8.2e-24 PFAM
Pfam:Ion_trans 131 394 2.1e-23 PFAM
low complexity region 395 406 N/A INTRINSIC
Blast:cNMP 407 439 4e-13 BLAST
cNMP 464 580 1.95e-22 SMART
low complexity region 639 655 N/A INTRINSIC
low complexity region 660 680 N/A INTRINSIC
low complexity region 720 779 N/A INTRINSIC
low complexity region 878 886 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype 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
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Ankrd36 T C 11: 5,585,329 (GRCm39) L380P probably damaging Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Caprin1 A T 2: 103,606,332 (GRCm39) F303I possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fermt1 A T 2: 132,776,739 (GRCm39) probably null Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Izumo3 A C 4: 92,035,140 (GRCm39) C26G probably damaging Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Npy A G 6: 49,800,705 (GRCm39) E43G probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Or8d2 T A 9: 38,760,200 (GRCm39) N263K probably benign Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Sidt2 A T 9: 45,863,098 (GRCm39) M11K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown Het
Other mutations in Hcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Hcn1 APN 13 118,112,529 (GRCm39) missense probably damaging 1.00
IGL00340:Hcn1 APN 13 117,739,513 (GRCm39) missense unknown
IGL01161:Hcn1 APN 13 117,793,458 (GRCm39) missense unknown
IGL01723:Hcn1 APN 13 118,112,591 (GRCm39) missense probably damaging 0.98
IGL02324:Hcn1 APN 13 118,039,422 (GRCm39) missense unknown
IGL02491:Hcn1 APN 13 117,946,576 (GRCm39) missense unknown
Thump UTSW 13 118,010,441 (GRCm39) nonsense probably null
FR4976:Hcn1 UTSW 13 118,112,344 (GRCm39) small insertion probably benign
PIT4504001:Hcn1 UTSW 13 118,112,411 (GRCm39) missense possibly damaging 0.90
R0420:Hcn1 UTSW 13 118,111,911 (GRCm39) missense unknown
R1546:Hcn1 UTSW 13 118,112,302 (GRCm39) small insertion probably benign
R1659:Hcn1 UTSW 13 118,112,610 (GRCm39) missense probably damaging 0.99
R1667:Hcn1 UTSW 13 117,739,609 (GRCm39) missense unknown
R1766:Hcn1 UTSW 13 117,793,270 (GRCm39) missense probably benign 0.39
R1842:Hcn1 UTSW 13 118,112,544 (GRCm39) missense probably damaging 0.99
R2051:Hcn1 UTSW 13 118,112,619 (GRCm39) missense probably damaging 0.99
R3605:Hcn1 UTSW 13 118,111,788 (GRCm39) missense unknown
R4259:Hcn1 UTSW 13 118,111,884 (GRCm39) missense unknown
R4284:Hcn1 UTSW 13 118,112,269 (GRCm39) small deletion probably benign
R4637:Hcn1 UTSW 13 118,112,249 (GRCm39) missense unknown
R4679:Hcn1 UTSW 13 117,793,551 (GRCm39) missense probably benign 0.39
R4777:Hcn1 UTSW 13 118,112,269 (GRCm39) small deletion probably benign
R4839:Hcn1 UTSW 13 118,062,246 (GRCm39) missense unknown
R4883:Hcn1 UTSW 13 118,039,431 (GRCm39) critical splice donor site probably null
R5015:Hcn1 UTSW 13 117,739,556 (GRCm39) missense unknown
R5060:Hcn1 UTSW 13 118,010,441 (GRCm39) nonsense probably null
R5748:Hcn1 UTSW 13 118,112,591 (GRCm39) missense probably damaging 0.99
R5823:Hcn1 UTSW 13 117,739,388 (GRCm39) missense unknown
R6900:Hcn1 UTSW 13 117,793,363 (GRCm39) missense probably benign 0.39
R7045:Hcn1 UTSW 13 118,111,998 (GRCm39) missense unknown
R7049:Hcn1 UTSW 13 118,111,998 (GRCm39) missense unknown
R7163:Hcn1 UTSW 13 118,062,083 (GRCm39) missense unknown
R7534:Hcn1 UTSW 13 118,111,961 (GRCm39) missense unknown
R7722:Hcn1 UTSW 13 118,039,314 (GRCm39) missense unknown
R7984:Hcn1 UTSW 13 118,112,609 (GRCm39) nonsense probably null
R8083:Hcn1 UTSW 13 118,112,296 (GRCm39) small insertion probably benign
R8171:Hcn1 UTSW 13 117,739,270 (GRCm39) missense unknown
R8223:Hcn1 UTSW 13 118,010,406 (GRCm39) missense unknown
R8240:Hcn1 UTSW 13 118,112,269 (GRCm39) small deletion probably benign
R8853:Hcn1 UTSW 13 118,112,269 (GRCm39) small deletion probably benign
R9054:Hcn1 UTSW 13 118,108,171 (GRCm39) missense unknown
R9224:Hcn1 UTSW 13 118,062,254 (GRCm39) missense unknown
R9241:Hcn1 UTSW 13 117,793,249 (GRCm39) missense probably benign 0.39
R9324:Hcn1 UTSW 13 118,111,901 (GRCm39) missense unknown
R9632:Hcn1 UTSW 13 118,010,522 (GRCm39) missense probably benign 0.39
R9758:Hcn1 UTSW 13 118,112,305 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- ACCGAGAGATGGTACAAGCTATCCC -3'
(R):5'- AAGGTGACACGTTGTGGCACTG -3'

Sequencing Primer
(F):5'- GATGGTACAAGCTATCCCTCCAATC -3'
(R):5'- ctgctgctgctgttgttg -3'
Posted On 2014-04-13