Incidental Mutation 'R5068:Hcn4'
ID 388459
Institutional Source Beutler Lab
Gene Symbol Hcn4
Ensembl Gene ENSMUSG00000032338
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 4
Synonyms
MMRRC Submission 042658-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5068 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 58730695-58770458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58767304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 955 (L955P)
Ref Sequence ENSEMBL: ENSMUSP00000034889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034889]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000034889
AA Change: L955P
SMART Domains Protein: ENSMUSP00000034889
Gene: ENSMUSG00000032338
AA Change: L955P

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
low complexity region 43 59 N/A INTRINSIC
low complexity region 97 120 N/A INTRINSIC
low complexity region 150 184 N/A INTRINSIC
Pfam:Ion_trans_N 218 261 1.2e-23 PFAM
Pfam:Ion_trans 262 525 2.2e-25 PFAM
low complexity region 526 537 N/A INTRINSIC
Blast:cNMP 538 570 9e-13 BLAST
cNMP 595 708 2.27e-23 SMART
low complexity region 761 771 N/A INTRINSIC
low complexity region 775 796 N/A INTRINSIC
low complexity region 808 818 N/A INTRINSIC
low complexity region 831 856 N/A INTRINSIC
low complexity region 866 906 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 931 956 N/A INTRINSIC
low complexity region 960 987 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
low complexity region 1021 1036 N/A INTRINSIC
low complexity region 1045 1073 N/A INTRINSIC
low complexity region 1123 1140 N/A INTRINSIC
low complexity region 1154 1164 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene experience embryonic lethality between E9.5 and E11.5. Conditional deletion in cardiac tissue results in severe bradycardia and death. Mice over-expressing the gene exhibit impaired firing rate in ORN, small olfactory bulb and reduced glomeruli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,749 (GRCm39) S739P possibly damaging Het
6030468B19Rik A G 11: 117,693,701 (GRCm39) Y56C possibly damaging Het
Actn2 A G 13: 12,303,408 (GRCm39) I464T possibly damaging Het
Add2 T A 6: 86,084,440 (GRCm39) L496Q probably damaging Het
Akt1s1 T C 7: 44,499,432 (GRCm39) probably null Het
Als2 G T 1: 59,250,433 (GRCm39) P437Q probably benign Het
Ankar T C 1: 72,719,369 (GRCm39) probably null Het
Ankrd17 T C 5: 90,402,667 (GRCm39) R1464G probably damaging Het
Ankrd24 T C 10: 81,475,699 (GRCm39) S121P possibly damaging Het
Arvcf A G 16: 18,217,736 (GRCm39) Y412C probably damaging Het
Birc6 C T 17: 74,872,967 (GRCm39) R409C probably damaging Het
Bnip3l T C 14: 67,237,081 (GRCm39) E57G possibly damaging Het
Calcoco1 A G 15: 102,619,527 (GRCm39) L354P probably damaging Het
Cc2d1b T C 4: 108,480,661 (GRCm39) V27A possibly damaging Het
Cdc37 T C 9: 21,061,099 (GRCm39) T19A probably damaging Het
Cep152 T C 2: 125,413,736 (GRCm39) I1199V probably benign Het
Chd6 G T 2: 160,808,289 (GRCm39) L1642I possibly damaging Het
Chst13 T C 6: 90,286,551 (GRCm39) E137G possibly damaging Het
Cnrip1 A G 11: 17,004,687 (GRCm39) D79G probably damaging Het
Dars2 A T 1: 160,869,483 (GRCm39) C589S probably benign Het
Dhx15 T G 5: 52,327,409 (GRCm39) I102L possibly damaging Het
Dip2a A G 10: 76,153,877 (GRCm39) L151P possibly damaging Het
Dlc1 T C 8: 37,405,184 (GRCm39) T202A probably benign Het
Dlg1 G T 16: 31,503,113 (GRCm39) probably null Het
Dlgap4 T C 2: 156,549,031 (GRCm39) F464L probably benign Het
Dnah3 T C 7: 119,632,013 (GRCm39) H1314R probably benign Het
Dsp A C 13: 38,381,099 (GRCm39) T2615P possibly damaging Het
Dthd1 C A 5: 62,976,059 (GRCm39) D244E probably benign Het
Dtl A T 1: 191,300,485 (GRCm39) D126E probably damaging Het
Ell2 A G 13: 75,911,737 (GRCm39) N341S probably benign Het
Enpp2 T C 15: 54,727,450 (GRCm39) Y513C probably damaging Het
Erbb4 A T 1: 68,083,061 (GRCm39) probably null Het
Erc2 A T 14: 28,024,900 (GRCm39) H593L possibly damaging Het
Ercc6 T C 14: 32,292,020 (GRCm39) V1128A probably benign Het
Fyn A G 10: 39,402,839 (GRCm39) K204E probably damaging Het
Gm4847 A T 1: 166,465,953 (GRCm39) F212Y possibly damaging Het
Gpc5 T C 14: 115,654,676 (GRCm39) *499R probably null Het
Hook2 C A 8: 85,720,028 (GRCm39) L111I possibly damaging Het
Hook3 C T 8: 26,585,785 (GRCm39) probably null Het
Hvcn1 T C 5: 122,371,544 (GRCm39) F28S probably damaging Het
Igkv6-32 A G 6: 70,051,267 (GRCm39) F30L possibly damaging Het
Inpp5b G A 4: 124,636,442 (GRCm39) probably null Het
Itgb2 G A 10: 77,384,595 (GRCm39) A239T probably damaging Het
Kcnrg T C 14: 61,845,266 (GRCm39) L102P probably damaging Het
Kif16b A T 2: 142,553,627 (GRCm39) M1068K probably benign Het
Kifc3 T C 8: 95,836,844 (GRCm39) R109G possibly damaging Het
Klhl28 A T 12: 65,004,486 (GRCm39) M9K probably benign Het
Kptn T C 7: 15,857,027 (GRCm39) Y172H probably damaging Het
Mib1 A G 18: 10,793,002 (GRCm39) E646G probably damaging Het
Mmp14 T A 14: 54,676,570 (GRCm39) Y372N probably damaging Het
Mrc1 T A 2: 14,311,327 (GRCm39) M868K probably benign Het
Mterf1a T C 5: 3,941,854 (GRCm39) N5D probably benign Het
Muc5b T C 7: 141,412,345 (GRCm39) S1764P unknown Het
Myo9b T C 8: 71,801,699 (GRCm39) Y1275H probably damaging Het
Nek1 T C 8: 61,469,330 (GRCm39) I129T probably damaging Het
Net1 G A 13: 3,936,740 (GRCm39) A221V probably benign Het
Nuak2 A T 1: 132,259,509 (GRCm39) D429V probably benign Het
Nup98 T C 7: 101,794,862 (GRCm39) T882A probably benign Het
Or11g2 T A 14: 50,856,197 (GRCm39) C173S probably damaging Het
Or11h4 C A 14: 50,974,531 (GRCm39) L29F probably benign Het
Or52ab4 A T 7: 102,987,229 (GRCm39) probably null Het
Or52h1 T A 7: 103,829,448 (GRCm39) S56C probably damaging Het
Or8b42 T C 9: 38,341,760 (GRCm39) Y61H probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh7 T C 5: 57,879,508 (GRCm39) V1021A probably damaging Het
Pclo G C 5: 14,729,087 (GRCm39) probably benign Het
Pds5a A C 5: 65,772,615 (GRCm39) D1329E probably damaging Het
Pex5 A G 6: 124,390,555 (GRCm39) S97P probably benign Het
Pias3 A G 3: 96,611,171 (GRCm39) K431E probably damaging Het
Piwil1 T C 5: 128,818,678 (GRCm39) S158P probably damaging Het
Plxnc1 A T 10: 94,635,239 (GRCm39) I1329N possibly damaging Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Pnpla1 T A 17: 29,098,397 (GRCm39) probably null Het
Prdm10 T C 9: 31,270,343 (GRCm39) Y827H probably damaging Het
Prss3b A C 6: 41,009,370 (GRCm39) Y155D probably benign Het
Psma2 G A 13: 14,790,613 (GRCm39) V20I probably benign Het
Pwwp4a T C X: 72,171,577 (GRCm39) I323T probably damaging Het
Rgl3 A G 9: 21,899,340 (GRCm39) probably null Het
Rnf17 T C 14: 56,743,385 (GRCm39) V1317A probably damaging Het
Rpp40 T C 13: 36,082,681 (GRCm39) N254D probably benign Het
Scin T A 12: 40,174,699 (GRCm39) H128L probably damaging Het
Sh3bp2 A T 5: 34,714,311 (GRCm39) M225L probably benign Het
Shisa9 C A 16: 12,085,412 (GRCm39) H324Q possibly damaging Het
Sipa1l1 A G 12: 82,484,601 (GRCm39) D1585G probably damaging Het
Slc11a1 G A 1: 74,424,343 (GRCm39) A434T probably damaging Het
Slc5a8 A T 10: 88,722,460 (GRCm39) I98F possibly damaging Het
Slc6a13 T C 6: 121,310,301 (GRCm39) L320P probably damaging Het
Spats2l A G 1: 57,982,380 (GRCm39) T421A probably benign Het
Spryd3 A T 15: 102,037,046 (GRCm39) D207E probably benign Het
Srrt T C 5: 137,294,803 (GRCm39) N392S possibly damaging Het
Stk36 G T 1: 74,661,504 (GRCm39) R510S probably benign Het
Sucnr1 A G 3: 59,994,288 (GRCm39) Y272C probably damaging Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tmem131 A G 1: 36,893,986 (GRCm39) I139T probably damaging Het
Tph2 T A 10: 114,987,079 (GRCm39) Y237F probably benign Het
Trim35 C T 14: 66,546,421 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,655,750 (GRCm39) I661T probably benign Het
Ttc27 T A 17: 75,106,337 (GRCm39) H541Q probably damaging Het
Uap1 G T 1: 169,989,032 (GRCm39) P130Q probably damaging Het
Ube3c T C 5: 29,806,352 (GRCm39) probably null Het
Umad1 A T 6: 8,401,157 (GRCm39) probably null Het
Usp34 T C 11: 23,410,665 (GRCm39) V2705A possibly damaging Het
Vps13a T C 19: 16,723,422 (GRCm39) S259G probably benign Het
Vwa7 G A 17: 35,243,166 (GRCm39) V615I probably benign Het
Wdfy3 T C 5: 102,042,803 (GRCm39) T1983A probably benign Het
Wdr24 T G 17: 26,044,753 (GRCm39) F203V possibly damaging Het
Xlr4c T A X: 72,282,290 (GRCm39) K121M probably damaging Het
Zfc3h1 T A 10: 115,254,688 (GRCm39) C1427* probably null Het
Zfp282 A C 6: 47,854,637 (GRCm39) Q11P probably benign Het
Zfp750 T A 11: 121,403,021 (GRCm39) T576S probably benign Het
Other mutations in Hcn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Hcn4 APN 9 58,767,336 (GRCm39) missense unknown
IGL00939:Hcn4 APN 9 58,751,210 (GRCm39) missense probably benign 0.39
IGL01154:Hcn4 APN 9 58,766,362 (GRCm39) missense unknown
IGL01408:Hcn4 APN 9 58,767,169 (GRCm39) missense unknown
IGL02658:Hcn4 APN 9 58,766,748 (GRCm39) missense unknown
IGL02877:Hcn4 APN 9 58,766,450 (GRCm39) missense unknown
IGL03211:Hcn4 APN 9 58,765,434 (GRCm39) missense unknown
PIT1430001:Hcn4 UTSW 9 58,766,833 (GRCm39) missense unknown
R0049:Hcn4 UTSW 9 58,767,582 (GRCm39) missense probably damaging 0.98
R0268:Hcn4 UTSW 9 58,767,445 (GRCm39) missense unknown
R0812:Hcn4 UTSW 9 58,730,795 (GRCm39) start codon destroyed probably null
R2121:Hcn4 UTSW 9 58,731,341 (GRCm39) missense unknown
R3035:Hcn4 UTSW 9 58,730,963 (GRCm39) missense unknown
R3715:Hcn4 UTSW 9 58,751,319 (GRCm39) missense unknown
R3737:Hcn4 UTSW 9 58,751,172 (GRCm39) missense probably benign 0.39
R3958:Hcn4 UTSW 9 58,751,331 (GRCm39) missense unknown
R4035:Hcn4 UTSW 9 58,751,172 (GRCm39) missense probably benign 0.39
R4393:Hcn4 UTSW 9 58,751,583 (GRCm39) missense unknown
R4418:Hcn4 UTSW 9 58,751,178 (GRCm39) missense probably benign 0.39
R4532:Hcn4 UTSW 9 58,765,081 (GRCm39) missense unknown
R4765:Hcn4 UTSW 9 58,765,260 (GRCm39) missense unknown
R4857:Hcn4 UTSW 9 58,766,853 (GRCm39) missense unknown
R4967:Hcn4 UTSW 9 58,767,111 (GRCm39) missense unknown
R5253:Hcn4 UTSW 9 58,731,558 (GRCm39) missense unknown
R5304:Hcn4 UTSW 9 58,751,215 (GRCm39) missense probably benign 0.39
R5600:Hcn4 UTSW 9 58,766,576 (GRCm39) splice site probably null
R6346:Hcn4 UTSW 9 58,766,327 (GRCm39) missense unknown
R6575:Hcn4 UTSW 9 58,731,435 (GRCm39) missense unknown
R6622:Hcn4 UTSW 9 58,765,010 (GRCm39) missense unknown
R6967:Hcn4 UTSW 9 58,731,228 (GRCm39) missense unknown
R7038:Hcn4 UTSW 9 58,730,867 (GRCm39) missense unknown
R7054:Hcn4 UTSW 9 58,763,000 (GRCm39) missense unknown
R7229:Hcn4 UTSW 9 58,760,682 (GRCm39) missense unknown
R7407:Hcn4 UTSW 9 58,766,653 (GRCm39) missense unknown
R7448:Hcn4 UTSW 9 58,751,582 (GRCm39) missense unknown
R7531:Hcn4 UTSW 9 58,767,420 (GRCm39) missense unknown
R7572:Hcn4 UTSW 9 58,731,063 (GRCm39) missense unknown
R7680:Hcn4 UTSW 9 58,767,954 (GRCm39) missense probably benign 0.08
R7915:Hcn4 UTSW 9 58,731,218 (GRCm39) missense unknown
R7956:Hcn4 UTSW 9 58,751,456 (GRCm39) missense unknown
R8146:Hcn4 UTSW 9 58,731,027 (GRCm39) missense unknown
R8234:Hcn4 UTSW 9 58,751,433 (GRCm39) missense unknown
R8421:Hcn4 UTSW 9 58,765,379 (GRCm39) missense unknown
R8690:Hcn4 UTSW 9 58,751,193 (GRCm39) missense probably benign 0.39
R8855:Hcn4 UTSW 9 58,765,387 (GRCm39) missense unknown
R8884:Hcn4 UTSW 9 58,760,705 (GRCm39) missense unknown
R9017:Hcn4 UTSW 9 58,731,482 (GRCm39) missense unknown
R9151:Hcn4 UTSW 9 58,767,880 (GRCm39) missense possibly damaging 0.94
R9331:Hcn4 UTSW 9 58,767,705 (GRCm39) missense probably damaging 0.97
R9433:Hcn4 UTSW 9 58,731,222 (GRCm39) missense unknown
R9523:Hcn4 UTSW 9 58,766,809 (GRCm39) missense unknown
R9541:Hcn4 UTSW 9 58,767,685 (GRCm39) missense probably damaging 1.00
R9730:Hcn4 UTSW 9 58,731,493 (GRCm39) missense unknown
R9748:Hcn4 UTSW 9 58,730,996 (GRCm39) missense unknown
R9753:Hcn4 UTSW 9 58,751,319 (GRCm39) missense unknown
R9795:Hcn4 UTSW 9 58,760,762 (GRCm39) nonsense probably null
RF011:Hcn4 UTSW 9 58,767,198 (GRCm39) missense unknown
X0009:Hcn4 UTSW 9 58,768,042 (GRCm39) nonsense probably null
X0057:Hcn4 UTSW 9 58,766,651 (GRCm39) missense unknown
Z1176:Hcn4 UTSW 9 58,765,431 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTCTGCACCTCCTGGATTGAG -3'
(R):5'- GCACTCGGGAAAGTTCTTGG -3'

Sequencing Primer
(F):5'- GGATTGAGCCCTCTCCTGC -3'
(R):5'- AAAGTTCTTGGGGGCCCC -3'
Posted On 2016-06-06