Incidental Mutation 'R5776:Hcn3'
ID 446684
Institutional Source Beutler Lab
Gene Symbol Hcn3
Ensembl Gene ENSMUSG00000028051
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 3
Synonyms Hac3
MMRRC Submission 043375-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R5776 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89054082-89067538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89055412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 612 (A612T)
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: A612T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: A612T

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
Meta Mutation Damage Score 0.0636 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (64/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,107,649 (GRCm39) M378K possibly damaging Het
Abca17 A G 17: 24,514,132 (GRCm39) V857A probably benign Het
Abca9 C T 11: 109,998,286 (GRCm39) probably null Het
Adam22 T C 5: 8,177,361 (GRCm39) K583E probably benign Het
Akr1c13 T C 13: 4,244,186 (GRCm39) F80L probably damaging Het
Apob A T 12: 8,056,149 (GRCm39) I1511F possibly damaging Het
Ccdc168 T C 1: 44,095,665 (GRCm39) E1811G possibly damaging Het
Cfh C A 1: 140,071,761 (GRCm39) R291I possibly damaging Het
Col1a1 C T 11: 94,840,550 (GRCm39) S1114F unknown Het
Ctsj T C 13: 61,150,956 (GRCm39) D168G probably damaging Het
Erf T C 7: 24,945,534 (GRCm39) D79G probably damaging Het
Extl1 T C 4: 134,085,083 (GRCm39) N629S possibly damaging Het
Fbxo9 T C 9: 78,002,469 (GRCm39) E204G probably damaging Het
Fdx2 C A 9: 20,984,778 (GRCm39) V9L possibly damaging Het
Gfer G T 17: 24,915,027 (GRCm39) S5R probably benign Het
Gm15931 A T 7: 4,284,564 (GRCm39) noncoding transcript Het
Gm6309 T A 5: 146,105,691 (GRCm39) I158F possibly damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hacl1 A T 14: 31,344,828 (GRCm39) N234K possibly damaging Het
Hectd1 T A 12: 51,810,897 (GRCm39) E1679D possibly damaging Het
Hipk4 T C 7: 27,228,405 (GRCm39) L285P probably damaging Het
Igsf3 G A 3: 101,332,796 (GRCm39) V25I probably benign Het
Jade1 A G 3: 41,568,227 (GRCm39) H765R probably benign Het
Kcnv1 T C 15: 44,977,963 (GRCm39) D25G unknown Het
Klhl3 A G 13: 58,152,998 (GRCm39) S586P probably benign Het
L3mbtl2 A G 15: 81,569,072 (GRCm39) D582G probably damaging Het
Matn2 G A 15: 34,431,765 (GRCm39) C835Y probably damaging Het
Naa15 A C 3: 51,367,447 (GRCm39) D490A probably damaging Het
Nab2 T A 10: 127,500,198 (GRCm39) Y298F probably damaging Het
Nipsnap1 T A 11: 4,838,919 (GRCm39) M115K probably benign Het
Nlrp5-ps T C 7: 14,326,649 (GRCm39) noncoding transcript Het
Nol4l T G 2: 153,259,741 (GRCm39) Q211P probably damaging Het
Oga T C 19: 45,760,363 (GRCm39) E265G probably damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Or6k14 A T 1: 173,927,339 (GRCm39) H105L probably damaging Het
Pkhd1 T C 1: 20,279,409 (GRCm39) K2970E possibly damaging Het
Plin4 T C 17: 56,411,983 (GRCm39) T683A probably damaging Het
Ppm1g T C 5: 31,362,454 (GRCm39) D282G probably benign Het
Ppp6r3 A G 19: 3,576,901 (GRCm39) S10P possibly damaging Het
Raph1 G A 1: 60,529,315 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,268,325 (GRCm39) V935A possibly damaging Het
Reg4 T A 3: 98,140,344 (GRCm39) D108E possibly damaging Het
Saraf T A 8: 34,632,604 (GRCm39) Y228N probably damaging Het
Sctr T C 1: 119,984,137 (GRCm39) S357P probably damaging Het
Sec22b A T 3: 97,821,884 (GRCm39) N139Y probably damaging Het
Sgsm1 T A 5: 113,398,823 (GRCm39) I1037F probably damaging Het
Skint5 A C 4: 113,620,700 (GRCm39) S671R unknown Het
Slc38a3 C A 9: 107,535,948 (GRCm39) E62* probably null Het
Slfn14 C T 11: 83,174,425 (GRCm39) E189K probably damaging Het
Sox21 A G 14: 118,472,656 (GRCm39) L131P probably damaging Het
Stip1 A G 19: 6,999,393 (GRCm39) probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Susd1 T C 4: 59,315,363 (GRCm39) probably benign Het
Tdrd7 T A 4: 46,005,689 (GRCm39) D498E probably benign Het
Tln2 C T 9: 67,165,532 (GRCm39) E1053K probably damaging Het
Trav6-4 A G 14: 53,692,211 (GRCm39) D103G probably damaging Het
Txndc15 A G 13: 55,865,920 (GRCm39) E128G probably benign Het
Vmn2r22 A T 6: 123,614,673 (GRCm39) W306R probably damaging Het
Yjefn3 A T 8: 70,342,121 (GRCm39) L33Q probably damaging Het
Zfp641 T C 15: 98,186,891 (GRCm39) D244G probably 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
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
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'- CCAACAGAGATACCTGGGAACG -3'
(R):5'- TCGATACTGCAGCGGAAAC -3'

Sequencing Primer
(F):5'- TCCGGGATAGGCTGGCATG -3'
(R):5'- AAACGCTCTGAGCCGAGTC -3'
Posted On 2016-12-15