Incidental Mutation 'R1766:Hcn1'
ID 194401
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 039798-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1766 (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 A at 117793270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 174 (V174D)
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 probably benign
Transcript: ENSMUST00000006991
AA Change: V174D

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: V174D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207599
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T C 10: 42,330,491 (GRCm39) T59A probably benign Het
Ankrd17 T A 5: 90,412,656 (GRCm39) M1223L possibly damaging Het
Ankrd24 G A 10: 81,474,472 (GRCm39) S68N probably benign Het
Arhgap31 A G 16: 38,445,952 (GRCm39) I131T probably damaging Het
Arhgef10 A T 8: 15,029,836 (GRCm39) I874F probably damaging Het
Arl5b T C 2: 15,074,648 (GRCm39) V43A probably benign Het
BC051665 G A 13: 60,932,854 (GRCm39) H36Y probably benign Het
Cdh9 A G 15: 16,778,392 (GRCm39) D69G probably damaging Het
Chd6 G A 2: 160,808,559 (GRCm39) L1552F probably damaging Het
Chrd A G 16: 20,556,191 (GRCm39) H584R probably damaging Het
Dnhd1 G A 7: 105,343,179 (GRCm39) V1508I possibly damaging Het
Dpy19l4 C T 4: 11,303,360 (GRCm39) G187D probably damaging Het
Dync2h1 T C 9: 7,015,526 (GRCm39) probably null Het
Ehbp1l1 A G 19: 5,766,434 (GRCm39) V1303A probably damaging Het
Eif4e1b G A 13: 54,934,704 (GRCm39) E182K probably damaging Het
Fam170b A T 14: 32,557,843 (GRCm39) Q226L possibly damaging Het
Fam193a C T 5: 34,619,475 (GRCm39) P760L probably damaging Het
Gabra5 A T 7: 57,157,796 (GRCm39) L6H probably benign Het
Gabrq G A X: 71,876,989 (GRCm39) R161H probably damaging Het
Gm7334 T A 17: 51,006,006 (GRCm39) D97E probably damaging Het
Gpsm1 G A 2: 26,215,395 (GRCm39) A286T probably damaging Het
Gsta4 C A 9: 78,111,611 (GRCm39) Y79* probably null Het
Hic1 G T 11: 75,056,620 (GRCm39) C756* probably null Het
Hivep3 C T 4: 119,953,868 (GRCm39) T728I probably benign Het
Ice1 T C 13: 70,752,561 (GRCm39) E1175G possibly damaging Het
Igsf3 T A 3: 101,338,598 (GRCm39) L304Q probably damaging Het
Kpna6 T C 4: 129,551,235 (GRCm39) D90G probably benign Het
Krt73 C T 15: 101,702,363 (GRCm39) G500D probably damaging Het
Lama3 A G 18: 12,535,119 (GRCm39) K156E probably damaging Het
Mdm2 T C 10: 117,531,927 (GRCm39) K94E probably damaging Het
Mitf T C 6: 97,918,060 (GRCm39) S26P probably damaging Het
Myh4 C A 11: 67,147,121 (GRCm39) Q1589K possibly damaging Het
Nlrp4c T A 7: 6,076,113 (GRCm39) V671E probably benign Het
Nop9 C T 14: 55,989,591 (GRCm39) A407V possibly damaging Het
Nrap T A 19: 56,323,474 (GRCm39) H1366L probably damaging Het
Ntrk1 A T 3: 87,685,825 (GRCm39) C766S probably damaging Het
Oog3 C T 4: 143,885,692 (GRCm39) G302D possibly damaging Het
Or4q3 T C 14: 50,583,677 (GRCm39) Y43C probably damaging Het
Or52z15 A G 7: 103,332,068 (GRCm39) N38D possibly damaging Het
Or6c38 T C 10: 128,929,616 (GRCm39) I76V probably benign Het
Or7g27 A G 9: 19,250,154 (GRCm39) T133A probably benign Het
Pdzph1 C T 17: 59,280,747 (GRCm39) V512I probably benign Het
Phf2 A C 13: 48,973,033 (GRCm39) S408A unknown Het
Pigk T G 3: 152,445,793 (GRCm39) L135V probably damaging Het
Ppp2ca C A 11: 52,012,773 (GRCm39) T301N probably benign Het
Ppp4r3a A G 12: 101,024,741 (GRCm39) S253P probably damaging Het
Ptgfrn A T 3: 100,957,438 (GRCm39) I712N probably benign Het
Rapgef2 A T 3: 79,000,010 (GRCm39) D579E probably damaging Het
Rims2 T A 15: 39,325,976 (GRCm39) D769E probably damaging Het
Rptor T A 11: 119,615,887 (GRCm39) C134S probably damaging Het
S100a1 A G 3: 90,418,599 (GRCm39) F72L probably damaging Het
Scube1 T A 15: 83,606,146 (GRCm39) D42V probably damaging Het
Sh3glb1 T C 3: 144,418,446 (GRCm39) D39G probably damaging Het
Sh3pxd2a T C 19: 47,261,689 (GRCm39) T397A probably benign Het
Siglece G A 7: 43,300,956 (GRCm39) T453M probably damaging Het
Slc26a1 G A 5: 108,819,658 (GRCm39) R514W probably damaging Het
Slc4a8 T C 15: 100,685,093 (GRCm39) V156A probably benign Het
Smchd1 A T 17: 71,698,374 (GRCm39) V1134E probably damaging Het
Sorbs2 A G 8: 46,223,613 (GRCm39) Y222C probably damaging Het
Sorcs3 G T 19: 48,592,314 (GRCm39) W326C possibly damaging Het
Taf2 A G 15: 54,934,793 (GRCm39) V45A probably benign Het
Tex16 T C X: 111,150,782 (GRCm39) Y22H probably benign Het
Tiparp A T 3: 65,439,470 (GRCm39) H80L probably damaging Het
Tmem71 T A 15: 66,413,548 (GRCm39) T175S probably benign Het
Tmem87b T A 2: 128,681,090 (GRCm39) V338D probably damaging Het
Trdn A G 10: 33,240,004 (GRCm39) K445R probably damaging Het
Trim14 A G 4: 46,522,039 (GRCm39) F213L probably benign Het
Tubgcp5 T A 7: 55,464,768 (GRCm39) S550T probably benign Het
Tufm A G 7: 126,089,644 (GRCm39) D446G probably benign Het
Vipr1 A T 9: 121,490,485 (GRCm39) Y177F possibly damaging Het
Vmn2r116 A C 17: 23,620,740 (GRCm39) I825L probably damaging Het
Vmn2r12 G T 5: 109,239,910 (GRCm39) Q218K probably damaging Het
Vwa7 G T 17: 35,242,919 (GRCm39) probably null Het
Ywhae T C 11: 75,646,491 (GRCm39) V119A probably damaging Het
Zfand5 A G 19: 21,257,888 (GRCm39) R199G probably damaging Het
Zfp810 T C 9: 22,189,828 (GRCm39) Y360C possibly damaging Het
Zrsr2-ps1 A G 11: 22,923,637 (GRCm39) D137G probably benign 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
R1558:Hcn1 UTSW 13 118,112,112 (GRCm39) missense unknown
R1659:Hcn1 UTSW 13 118,112,610 (GRCm39) missense probably damaging 0.99
R1667:Hcn1 UTSW 13 117,739,609 (GRCm39) missense unknown
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

Sequencing Primer
Posted On 2014-05-23