Incidental Mutation 'R4578:Hcn2'
ID 343430
Institutional Source Beutler Lab
Gene Symbol Hcn2
Ensembl Gene ENSMUSG00000020331
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 2
Synonyms HAC1, trls
MMRRC Submission 041800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4578 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79552468-79571942 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 79560282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020581] [ENSMUST00000099513]
AlphaFold O88703
Predicted Effect probably null
Transcript: ENSMUST00000020581
SMART Domains Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331

DomainStartEndE-ValueType
low complexity region 4 47 N/A INTRINSIC
low complexity region 106 128 N/A INTRINSIC
Pfam:Ion_trans_N 140 183 5e-23 PFAM
Pfam:Ion_trans 184 447 3.3e-24 PFAM
low complexity region 448 459 N/A INTRINSIC
Blast:cNMP 460 492 9e-13 BLAST
cNMP 517 630 4.79e-22 SMART
low complexity region 727 765 N/A INTRINSIC
low complexity region 778 800 N/A INTRINSIC
low complexity region 804 838 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000099513
SMART Domains Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331

DomainStartEndE-ValueType
low complexity region 4 47 N/A INTRINSIC
low complexity region 106 128 N/A INTRINSIC
Pfam:Ion_trans_N 139 215 2.6e-47 PFAM
Pfam:Ion_trans 219 435 1.5e-20 PFAM
low complexity region 448 459 N/A INTRINSIC
Blast:cNMP 460 492 9e-13 BLAST
cNMP 517 630 4.79e-22 SMART
low complexity region 727 765 N/A INTRINSIC
low complexity region 778 800 N/A INTRINSIC
low complexity region 804 838 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for mutant alleles exhibit decreased body weight, behavioral/neurological abnormalities, and tremors or absence seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,537 (GRCm39) Y440* probably null Het
Aldh3b3 A T 19: 4,014,832 (GRCm39) T110S probably benign Het
Atp2b2 T C 6: 113,737,672 (GRCm39) T901A probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bfar A T 16: 13,505,307 (GRCm39) I106F probably benign Het
Btbd10 T G 7: 112,921,959 (GRCm39) I301L possibly damaging Het
Card14 G A 11: 119,217,567 (GRCm39) R400H probably benign Het
Ccdc80 A G 16: 44,915,849 (GRCm39) R202G probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cmtm7 A C 9: 114,592,351 (GRCm39) I82S probably benign Het
Cngb3 T A 4: 19,425,613 (GRCm39) W474R probably damaging Het
Coq9 T C 8: 95,580,234 (GRCm39) V285A probably benign Het
Cp A G 3: 20,028,052 (GRCm39) E486G probably damaging Het
Crybg3 C T 16: 59,350,564 (GRCm39) C892Y probably damaging Het
Cttn A T 7: 144,008,453 (GRCm39) F176L probably damaging Het
Cytip T A 2: 58,050,024 (GRCm39) N15I possibly damaging Het
Dgkb A G 12: 38,477,492 (GRCm39) E634G possibly damaging Het
Duox1 A G 2: 122,164,258 (GRCm39) E906G probably benign Het
Efcab6 A T 15: 83,817,369 (GRCm39) S735T probably benign Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Ercc5 T A 1: 44,187,308 (GRCm39) V29E probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Ftcd A C 10: 76,425,092 (GRCm39) E524D probably benign Het
Gfod2 T C 8: 106,454,878 (GRCm39) M1V probably null Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Gsta4 A T 9: 78,113,302 (GRCm39) R127S probably benign Het
Hectd1 A G 12: 51,798,715 (GRCm39) V2135A probably damaging Het
Hoxc6 A G 15: 102,918,093 (GRCm39) D19G probably benign Het
Hydin A T 8: 110,993,971 (GRCm39) T2S unknown Het
Ifna14 A T 4: 88,489,747 (GRCm39) S97T possibly damaging Het
Igkv17-127 T C 6: 67,838,183 (GRCm39) L14P unknown Het
Il17rb A G 14: 29,724,356 (GRCm39) V166A probably damaging Het
Iqca1 T A 1: 90,001,472 (GRCm39) I520F probably damaging Het
Kcnv2 G T 19: 27,300,994 (GRCm39) V282L probably benign Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Lrfn5 A G 12: 61,890,763 (GRCm39) D684G probably benign Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mis18bp1 T C 12: 65,200,655 (GRCm39) Y124C probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh2 T A 11: 67,064,084 (GRCm39) V48D possibly damaging Het
Nat10 A G 2: 103,584,417 (GRCm39) M120T probably damaging Het
Nf1 T C 11: 79,336,585 (GRCm39) S1065P probably damaging Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Pced1a A C 2: 130,264,596 (GRCm39) L78R probably damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Pomgnt2 G A 9: 121,812,131 (GRCm39) R217C probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rngtt A G 4: 33,339,050 (GRCm39) E285G probably benign Het
Sclt1 G A 3: 41,625,900 (GRCm39) Q356* probably null Het
Scn2b T C 9: 45,037,460 (GRCm39) F169S possibly damaging Het
Sfta2 C T 17: 35,960,775 (GRCm39) probably benign Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Sspo A C 6: 48,440,307 (GRCm39) D1541A possibly damaging Het
Strc G A 2: 121,208,484 (GRCm39) L296F possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Taf6l C A 19: 8,761,335 (GRCm39) R10L possibly damaging Het
Tbx3 G T 5: 119,820,841 (GRCm39) R617L probably damaging Het
Tnrc6a A G 7: 122,783,444 (GRCm39) R1471G possibly damaging Het
Togaram1 T C 12: 65,067,100 (GRCm39) L1714P probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Vcp A T 4: 42,984,565 (GRCm39) M442K probably benign Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Vmn2r52 A T 7: 9,904,617 (GRCm39) H407Q probably damaging Het
Vps13a A T 19: 16,659,474 (GRCm39) D1684E probably damaging Het
Wdr49 T C 3: 75,242,550 (GRCm39) M380V probably benign Het
Other mutations in Hcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Hcn2 APN 10 79,569,637 (GRCm39) nonsense probably null
IGL01339:Hcn2 APN 10 79,564,902 (GRCm39) missense probably damaging 1.00
IGL02183:Hcn2 APN 10 79,560,647 (GRCm39) critical splice donor site probably null
asombrarse UTSW 10 79,560,445 (GRCm39) missense probably damaging 1.00
curveball UTSW 10 79,560,620 (GRCm39) missense probably damaging 1.00
curveball2 UTSW 10 79,569,607 (GRCm39) nonsense probably null
mire UTSW 10 79,564,947 (GRCm39) critical splice donor site probably null
R0269:Hcn2 UTSW 10 79,570,075 (GRCm39) unclassified probably benign
R0671:Hcn2 UTSW 10 79,570,066 (GRCm39) splice site probably null
R1879:Hcn2 UTSW 10 79,562,023 (GRCm39) missense probably benign 0.03
R1913:Hcn2 UTSW 10 79,566,777 (GRCm39) missense probably benign 0.14
R4051:Hcn2 UTSW 10 79,569,521 (GRCm39) splice site probably null
R4052:Hcn2 UTSW 10 79,569,521 (GRCm39) splice site probably null
R4328:Hcn2 UTSW 10 79,560,445 (GRCm39) missense probably damaging 1.00
R4507:Hcn2 UTSW 10 79,560,620 (GRCm39) missense probably damaging 1.00
R4518:Hcn2 UTSW 10 79,560,536 (GRCm39) missense probably benign 0.17
R5334:Hcn2 UTSW 10 79,562,125 (GRCm39) missense probably damaging 0.99
R5788:Hcn2 UTSW 10 79,552,945 (GRCm39) missense possibly damaging 0.48
R6131:Hcn2 UTSW 10 79,569,742 (GRCm39) missense probably damaging 1.00
R6457:Hcn2 UTSW 10 79,569,607 (GRCm39) nonsense probably null
R6547:Hcn2 UTSW 10 79,552,986 (GRCm39) missense probably benign 0.29
R6851:Hcn2 UTSW 10 79,564,947 (GRCm39) critical splice donor site probably null
R7276:Hcn2 UTSW 10 79,564,934 (GRCm39) missense possibly damaging 0.95
R7706:Hcn2 UTSW 10 79,570,017 (GRCm39) missense possibly damaging 0.78
R7893:Hcn2 UTSW 10 79,560,245 (GRCm39) missense probably damaging 1.00
R8208:Hcn2 UTSW 10 79,566,778 (GRCm39) missense possibly damaging 0.94
R8677:Hcn2 UTSW 10 79,560,619 (GRCm39) missense probably benign 0.28
R9333:Hcn2 UTSW 10 79,561,991 (GRCm39) missense possibly damaging 0.56
R9527:Hcn2 UTSW 10 79,570,706 (GRCm39) missense probably benign 0.05
R9594:Hcn2 UTSW 10 79,560,559 (GRCm39) missense probably damaging 1.00
R9602:Hcn2 UTSW 10 79,562,128 (GRCm39) missense probably benign 0.05
R9604:Hcn2 UTSW 10 79,564,787 (GRCm39) missense probably damaging 1.00
X0024:Hcn2 UTSW 10 79,569,954 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGACCACCTTGCATTGGG -3'
(R):5'- TGAGGAAGATGTAGTCCACCG -3'

Sequencing Primer
(F):5'- CACCTTGCATTGGGGTCCTG -3'
(R):5'- TCCACCGGGATGGATGACAC -3'
Posted On 2015-09-24