Incidental Mutation 'IGL01621:Hcn3'
ID 92597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcn3
Ensembl Gene ENSMUSG00000028051
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 3
Synonyms Hac3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # IGL01621
Quality Score
Status
Chromosome 3
Chromosomal Location 89054082-89067538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89055030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 739 (S739Y)
Ref Sequence ENSEMBL: ENSMUSP00000029686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482]
AlphaFold O88705
Predicted Effect probably damaging
Transcript: ENSMUST00000029686
AA Change: S739Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: S739Y

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
Pfam:Ion_trans_N 48 91 1.3e-22 PFAM
Pfam:Ion_trans 92 357 3.7e-25 PFAM
low complexity region 358 369 N/A INTRINSIC
Blast:cNMP 370 402 7e-14 BLAST
cNMP 427 540 2.32e-20 SMART
Blast:cNMP 548 588 2e-17 BLAST
low complexity region 636 656 N/A INTRINSIC
low complexity region 698 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047111
SMART Domains Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:PK 85 438 6.9e-165 PFAM
Pfam:PK_C 453 571 3.6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107482
SMART Domains Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237

DomainStartEndE-ValueType
Pfam:PK 54 407 3.1e-163 PFAM
Pfam:PK_C 421 541 4.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133368
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Hcn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Hcn3 APN 3 89,060,119 (GRCm39) missense probably damaging 1.00
IGL02557:Hcn3 APN 3 89,057,178 (GRCm39) missense probably damaging 1.00
R0027:Hcn3 UTSW 3 89,067,132 (GRCm39) missense probably damaging 0.99
R0189:Hcn3 UTSW 3 89,056,107 (GRCm39) missense probably damaging 0.98
R0442:Hcn3 UTSW 3 89,058,847 (GRCm39) missense probably damaging 0.97
R0454:Hcn3 UTSW 3 89,060,201 (GRCm39) missense probably damaging 0.98
R0732:Hcn3 UTSW 3 89,056,093 (GRCm39) missense probably damaging 1.00
R1732:Hcn3 UTSW 3 89,055,426 (GRCm39) missense probably damaging 0.97
R1900:Hcn3 UTSW 3 89,055,570 (GRCm39) missense probably benign 0.00
R2277:Hcn3 UTSW 3 89,055,168 (GRCm39) missense probably benign 0.02
R2279:Hcn3 UTSW 3 89,055,168 (GRCm39) missense probably benign 0.02
R2331:Hcn3 UTSW 3 89,055,397 (GRCm39) missense probably benign 0.01
R2916:Hcn3 UTSW 3 89,054,920 (GRCm39) missense probably benign
R2918:Hcn3 UTSW 3 89,054,920 (GRCm39) missense probably benign
R4604:Hcn3 UTSW 3 89,057,747 (GRCm39) missense probably damaging 1.00
R4749:Hcn3 UTSW 3 89,057,370 (GRCm39) splice site probably null
R5095:Hcn3 UTSW 3 89,057,230 (GRCm39) missense probably damaging 0.99
R5776:Hcn3 UTSW 3 89,055,412 (GRCm39) missense probably benign 0.03
R5984:Hcn3 UTSW 3 89,055,570 (GRCm39) missense probably benign 0.00
R6389:Hcn3 UTSW 3 89,058,240 (GRCm39) missense possibly damaging 0.70
R6736:Hcn3 UTSW 3 89,059,981 (GRCm39) missense probably damaging 1.00
R6860:Hcn3 UTSW 3 89,067,152 (GRCm39) missense possibly damaging 0.73
R6909:Hcn3 UTSW 3 89,059,936 (GRCm39) critical splice donor site probably null
R7549:Hcn3 UTSW 3 89,057,307 (GRCm39) missense probably null 0.51
R9090:Hcn3 UTSW 3 89,057,267 (GRCm39) missense probably damaging 0.99
R9271:Hcn3 UTSW 3 89,057,267 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09