Incidental Mutation 'R6851:Hcn2'
ID 534972
Institutional Source Beutler Lab
Gene Symbol Hcn2
Ensembl Gene ENSMUSG00000020331
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 2
Synonyms HAC1, trls
MMRRC Submission 044955-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6851 (G1)
Quality Score 182.009
Status Validated
Chromosome 10
Chromosomal Location 79552468-79571942 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 79564947 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
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,623,345 (GRCm39) C856S probably benign Het
Arrdc2 T C 8: 71,291,369 (GRCm39) E153G probably damaging Het
Cacna1d T C 14: 29,764,739 (GRCm39) D2033G probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cracr2a A T 6: 127,585,679 (GRCm39) D159V probably damaging Het
Defa35 T C 8: 21,555,146 (GRCm39) I22T possibly damaging Het
Dgke T C 11: 88,943,309 (GRCm39) T227A probably benign Het
Efcab3 G A 11: 104,896,521 (GRCm39) R4290K probably benign Het
Firrm G A 1: 163,792,336 (GRCm39) R554C probably damaging Het
Galnt10 G A 11: 57,656,458 (GRCm39) R214Q probably damaging Het
Gpr180 T C 14: 118,391,037 (GRCm39) Y189H probably damaging Het
Hadh A G 3: 131,065,620 (GRCm39) S13P possibly damaging Het
Irgm2 T C 11: 58,110,641 (GRCm39) S123P possibly damaging Het
Kcnv1 T A 15: 44,972,594 (GRCm39) I430F probably damaging Het
Kif13b G A 14: 65,010,514 (GRCm39) C1271Y probably damaging Het
Klhdc3 A T 17: 46,989,218 (GRCm39) I48N possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Mprip T A 11: 59,649,841 (GRCm39) W1182R probably damaging Het
Mycbp2 A T 14: 103,497,630 (GRCm39) probably null Het
Or12e1 T A 2: 87,022,813 (GRCm39) S261T probably benign Het
Or1j11 T A 2: 36,311,832 (GRCm39) C141S probably damaging Het
Or8b51 A G 9: 38,569,481 (GRCm39) V69A probably benign Het
Or8h9 T C 2: 86,789,611 (GRCm39) T64A possibly damaging Het
Or9m1b T A 2: 87,836,300 (GRCm39) H265L probably damaging Het
Osbpl8 T A 10: 111,106,479 (GRCm39) Y295* probably null Het
Pex5 A G 6: 124,380,113 (GRCm39) S275P possibly damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Sele G T 1: 163,881,521 (GRCm39) G543C probably damaging Het
Serpina3k A C 12: 104,311,625 (GRCm39) Y401S probably benign Het
Slc13a4 A G 6: 35,278,668 (GRCm39) S74P probably damaging Het
Spata31d1a A G 13: 59,851,725 (GRCm39) L114P unknown Het
Syne1 G T 10: 5,212,703 (GRCm39) C3295* probably null Het
Tepsin G T 11: 119,987,787 (GRCm39) H44N probably damaging Het
Tpp1 A T 7: 105,398,919 (GRCm39) V170E probably damaging Het
Trav3-1 T C 14: 52,818,428 (GRCm39) V34A probably damaging Het
Tsbp1 A T 17: 34,679,146 (GRCm39) Y303F possibly damaging Het
Ush2a T C 1: 188,265,402 (GRCm39) V1642A probably benign Het
Vmn1r122 A G 7: 20,867,845 (GRCm39) I70T probably benign Het
Vmn2r96 A G 17: 18,802,800 (GRCm39) M237V possibly damaging Het
Wdr75 A G 1: 45,862,587 (GRCm39) E802G probably benign Het
Zan G A 5: 137,394,453 (GRCm39) T4462I unknown 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
R4578:Hcn2 UTSW 10 79,560,282 (GRCm39) splice site probably null
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
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'- CAATTGCAGAACCACTCGTG -3'
(R):5'- GAACACTCAGAACTGGTCCC -3'

Sequencing Primer
(F):5'- GCTCTTCAAGGCCATGAGC -3'
(R):5'- ACTGGTCTTGTTGGTTCTGAAC -3'
Posted On 2018-09-12