Incidental Mutation 'IGL02183:Hcn2'
ID284353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcn2
Ensembl Gene ENSMUSG00000020331
Gene Namehyperpolarization-activated, cyclic nucleotide-gated K+ 2
SynonymsHAC1, trls
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02183
Quality Score
Status
Chromosome10
Chromosomal Location79716634-79736108 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 79724813 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020581] [ENSMUST00000099513]
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
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,625,378 P480S possibly damaging Het
Ace2 T A X: 164,177,469 probably benign Het
Acsm4 A T 7: 119,693,852 probably null Het
Apcdd1 T C 18: 62,951,854 M374T probably damaging Het
Arid4b A G 13: 14,169,990 E551G possibly damaging Het
Bag4 A T 8: 25,768,030 L423Q probably damaging Het
Celf1 C T 2: 91,001,486 P96S probably damaging Het
Cry2 G A 2: 92,413,039 R486W probably damaging Het
Csn1s1 G A 5: 87,677,618 S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,740 Y1124C probably damaging Het
Cyp2j7 T C 4: 96,230,147 probably benign Het
Dock7 A T 4: 98,958,991 C1695S possibly damaging Het
Elmo3 T C 8: 105,308,323 L415P probably benign Het
Entpd5 A G 12: 84,380,380 probably benign Het
Gm7534 A G 4: 134,201,980 L338S probably benign Het
Gpatch11 T C 17: 78,842,231 probably null Het
Gprin3 C A 6: 59,353,162 R720I possibly damaging Het
Gria4 T G 9: 4,502,460 T358P probably damaging Het
Hivep3 A G 4: 120,132,024 T1891A probably benign Het
Hmgcr A G 13: 96,663,127 V153A probably damaging Het
Ifnar1 T C 16: 91,505,146 V503A possibly damaging Het
Igf2r G A 17: 12,698,516 probably benign Het
Ighg2b A G 12: 113,307,829 S35P unknown Het
Jmy T C 13: 93,499,242 D22G possibly damaging Het
Kdm5b T C 1: 134,624,931 I1215T probably benign Het
Krt84 T C 15: 101,532,356 I134V unknown Het
Magi3 T A 3: 104,085,347 M270L probably benign Het
Maneal G A 4: 124,860,416 T198I probably benign Het
Map7d3 A G X: 56,822,231 probably benign Het
Myh7 T A 14: 54,974,731 T1519S probably benign Het
Myo5a T C 9: 75,167,236 probably benign Het
Naip5 T C 13: 100,221,642 S1029G probably benign Het
Olfr1162 T C 2: 88,049,989 T212A possibly damaging Het
Olfr1205 A T 2: 88,832,028 I304F probably benign Het
Olfr125 G T 17: 37,835,413 C138F probably damaging Het
Olfr1279 T A 2: 111,306,418 V71E probably damaging Het
Olfr178 T A 16: 58,889,821 Q133L probably benign Het
Pald1 A T 10: 61,347,141 probably benign Het
Pan2 T A 10: 128,309,075 H230Q possibly damaging Het
Pcdh9 T C 14: 93,886,284 I817V probably benign Het
Piezo2 A G 18: 63,020,634 S2547P probably benign Het
Ppargc1b T A 18: 61,309,096 probably null Het
Prdm6 T C 18: 53,464,677 probably benign Het
Prr5l A T 2: 101,772,120 probably benign Het
Rab3gap2 T A 1: 185,271,468 L1020* probably null Het
Rhbdf1 T C 11: 32,210,543 H669R probably damaging Het
Rnf150 A T 8: 83,003,605 I255F probably damaging Het
Rnf17 T A 14: 56,507,868 D1360E probably null Het
Sag T C 1: 87,828,475 probably null Het
Scn2a C T 2: 65,671,603 T90I probably benign Het
Scn9a T A 2: 66,484,611 probably benign Het
Serpinb13 T C 1: 106,998,910 M212T probably damaging Het
Slc39a14 C T 14: 70,306,685 G484E possibly damaging Het
Slco1a1 A T 6: 141,921,943 probably benign Het
Slitrk3 A T 3: 73,049,979 Y487N probably damaging Het
Stkld1 T C 2: 26,946,659 M279T probably benign Het
Tmem161b T C 13: 84,272,254 Y125H probably damaging Het
Tmem71 A G 15: 66,555,025 probably benign Het
Ubxn7 T C 16: 32,369,383 F142L probably damaging Het
Vmn2r22 A G 6: 123,638,004 L209P probably damaging Het
Wdr73 A T 7: 80,893,760 W136R probably damaging Het
Wif1 C T 10: 121,075,276 R107C probably damaging Het
Ythdf2 G T 4: 132,205,574 L92M probably benign Het
Zfp53 T A 17: 21,500,250 I34N possibly damaging Het
Other mutations in Hcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Hcn2 APN 10 79733803 nonsense probably null
IGL01339:Hcn2 APN 10 79729068 missense probably damaging 1.00
asombrarse UTSW 10 79724611 missense probably damaging 1.00
curveball UTSW 10 79724786 missense probably damaging 1.00
curveball2 UTSW 10 79733773 nonsense probably null
mire UTSW 10 79729113 critical splice donor site probably null
R0269:Hcn2 UTSW 10 79734241 unclassified probably benign
R0671:Hcn2 UTSW 10 79734232 splice site probably null
R1879:Hcn2 UTSW 10 79726189 missense probably benign 0.03
R1913:Hcn2 UTSW 10 79730943 missense probably benign 0.14
R4051:Hcn2 UTSW 10 79733687 splice site probably null
R4052:Hcn2 UTSW 10 79733687 splice site probably null
R4328:Hcn2 UTSW 10 79724611 missense probably damaging 1.00
R4507:Hcn2 UTSW 10 79724786 missense probably damaging 1.00
R4518:Hcn2 UTSW 10 79724702 missense probably benign 0.17
R4578:Hcn2 UTSW 10 79724448 splice site probably null
R5334:Hcn2 UTSW 10 79726291 missense probably damaging 0.99
R5788:Hcn2 UTSW 10 79717111 missense possibly damaging 0.48
R6131:Hcn2 UTSW 10 79733908 missense probably damaging 1.00
R6457:Hcn2 UTSW 10 79733773 nonsense probably null
R6547:Hcn2 UTSW 10 79717152 missense probably benign 0.29
R6851:Hcn2 UTSW 10 79729113 critical splice donor site probably null
R7276:Hcn2 UTSW 10 79729100 missense possibly damaging 0.95
R7706:Hcn2 UTSW 10 79734183 missense possibly damaging 0.78
R7893:Hcn2 UTSW 10 79724411 missense probably damaging 1.00
R8208:Hcn2 UTSW 10 79730944 missense possibly damaging 0.94
X0024:Hcn2 UTSW 10 79734120 missense probably damaging 1.00
Posted On2015-04-16