Incidental Mutation 'R5015:Hcn1'
ID 385530
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 042606-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 117738856-118117564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117739556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 106 (Q106L)
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: Q106L
SMART Domains Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: Q106L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207599
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zfat T C 15: 68,050,762 (GRCm39) D753G probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T probably damaging 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
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
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'- GAAGGAACATGGCAACTCCG -3'
(R):5'- CAGTCTAAGTAGAAGCCTCCAGC -3'

Sequencing Primer
(F):5'- AACTCCGTGTGCTTCAAGG -3'
(R):5'- GTAGAAGCCTCCAGCATCGC -3'
Posted On 2016-05-10