Incidental Mutation 'R2277:Hcn3'
ID 242846
Institutional Source Beutler Lab
Gene Symbol Hcn3
Ensembl Gene ENSMUSG00000028051
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 3
Synonyms Hac3
MMRRC Submission 040276-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R2277 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89054082-89067538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89055168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 693 (R693L)
Ref Sequence ENSEMBL: ENSMUSP00000029686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482]
AlphaFold O88705
Predicted Effect probably benign
Transcript: ENSMUST00000029686
AA Change: R693L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: R693L

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d T C 19: 4,331,012 (GRCm39) H165R probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Atxn1 T C 13: 45,710,544 (GRCm39) N796S probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Cdh4 C A 2: 179,439,317 (GRCm39) H155N possibly damaging Het
Cela3a T C 4: 137,133,187 (GRCm39) I62V possibly damaging Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Ddx42 T A 11: 106,133,765 (GRCm39) D580E probably damaging Het
Dnah17 T C 11: 117,987,387 (GRCm39) K1308E possibly damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gh T C 11: 106,191,613 (GRCm39) E143G probably damaging Het
Hdlbp G A 1: 93,335,900 (GRCm39) R1199* probably null Het
Hook2 C T 8: 85,729,560 (GRCm39) Q667* probably null Het
Ibtk T C 9: 85,585,204 (GRCm39) I1147V probably benign Het
Itpk1 T C 12: 102,536,519 (GRCm39) T376A probably benign Het
Lars1 C T 18: 42,368,567 (GRCm39) V425I probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Mamld1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA X: 70,162,421 (GRCm39) probably benign Het
Mpp2 T C 11: 101,955,127 (GRCm39) E166G probably damaging Het
Mrgprb5 A G 7: 47,818,579 (GRCm39) L52P probably damaging Het
Nlrp2 T C 7: 5,331,128 (GRCm39) T423A probably benign Het
Nphs1 T A 7: 30,166,989 (GRCm39) L732* probably null Het
Pcdhb10 T C 18: 37,545,677 (GRCm39) I251T possibly damaging Het
Plcg1 T A 2: 160,597,725 (GRCm39) M789K possibly damaging Het
Pom121l2 T C 13: 22,168,417 (GRCm39) I896T probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rbm28 T C 6: 29,135,513 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Runx1t1 T C 4: 13,771,501 (GRCm39) V15A probably benign Het
Serpina10 T A 12: 103,593,002 (GRCm39) I291F probably benign Het
Slc23a2 A G 2: 131,933,179 (GRCm39) I93T possibly damaging Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Sulf1 A C 1: 12,867,018 (GRCm39) R67S probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tmem45a A T 16: 56,643,882 (GRCm39) L89Q probably damaging Het
Top3a A C 11: 60,636,700 (GRCm39) V655G possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Other mutations in Hcn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Hcn3 APN 3 89,055,030 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- ACATGTTGGCAGAAATTTGGG -3'
(R):5'- ATAGCCTTGACTCACCAGCG -3'

Sequencing Primer
(F):5'- TCCCTGGAGGTTTGGCCAAG -3'
(R):5'- TTGACTCACCAGCGAGGCC -3'
Posted On 2014-10-16