Incidental Mutation 'R5095:Hcn3'
ID 395806
Institutional Source Beutler Lab
Gene Symbol Hcn3
Ensembl Gene ENSMUSG00000028051
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 3
Synonyms Hac3
MMRRC Submission 042684-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R5095 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89054082-89067538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89057230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 456 (R456L)
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: R456L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: R456L

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 0.9360 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik G C 10: 21,301,492 (GRCm39) noncoding transcript Het
Adgrv1 C T 13: 81,243,606 (GRCm39) V6265I probably benign Het
Agbl1 G A 7: 76,369,881 (GRCm39) G660D probably damaging Het
Arap2 A G 5: 62,811,392 (GRCm39) Y1140H probably damaging Het
Atp6v1c1 T C 15: 38,679,657 (GRCm39) probably null Het
C1rb A T 6: 124,557,272 (GRCm39) R470W possibly damaging Het
Caskin2 T C 11: 115,691,564 (GRCm39) T1074A probably benign Het
Cdh19 T A 1: 110,882,391 (GRCm39) T34S probably benign Het
Csnk1a1 T A 18: 61,708,547 (GRCm39) Y175N probably damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Flt4 T A 11: 49,517,986 (GRCm39) V342D possibly damaging Het
Frmd5 A T 2: 121,379,402 (GRCm39) C394S possibly damaging Het
Gm5414 T G 15: 101,532,473 (GRCm39) N550T probably benign Het
Htt T C 5: 34,981,739 (GRCm39) V893A possibly damaging Het
Ift46 A G 9: 44,698,146 (GRCm39) D203G probably damaging Het
Itga10 G T 3: 96,555,480 (GRCm39) V145L probably benign Het
Kcnh6 A G 11: 105,908,080 (GRCm39) D232G possibly damaging Het
Mbtd1 T C 11: 93,820,497 (GRCm39) S431P probably damaging Het
Mmp27 T A 9: 7,572,159 (GRCm39) W120R probably damaging Het
Mmp27 A T 9: 7,579,001 (GRCm39) D418V probably damaging Het
Myo5a A G 9: 75,059,302 (GRCm39) D510G probably damaging Het
Myo5a A T 9: 75,091,671 (GRCm39) K1179* probably null Het
Neto1 T C 18: 86,416,406 (GRCm39) S38P probably benign Het
Nos3 A G 5: 24,573,916 (GRCm39) probably benign Het
Nuggc C T 14: 65,872,539 (GRCm39) R512* probably null Het
Oas1e T A 5: 120,932,329 (GRCm39) K105* probably null Het
Omd T A 13: 49,743,174 (GRCm39) S75T possibly damaging Het
Or10a3m T C 7: 108,313,019 (GRCm39) F141S probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Pbrm1 A G 14: 30,754,487 (GRCm39) N190S probably benign Het
Picalm T C 7: 89,819,841 (GRCm39) F85L probably damaging Het
Polg A G 7: 79,110,048 (GRCm39) V360A possibly damaging Het
Prex1 T C 2: 166,423,841 (GRCm39) D1017G probably damaging Het
Prss56 G C 1: 87,115,833 (GRCm39) R569P probably damaging Het
Rab6b G A 9: 103,017,583 (GRCm39) G25R probably damaging Het
Rdh10 A G 1: 16,201,609 (GRCm39) T332A probably benign Het
Rheb A T 5: 25,012,639 (GRCm39) M115K probably benign Het
Rnf149 A T 1: 39,594,737 (GRCm39) D321E probably benign Het
Rps28 C T 17: 34,042,177 (GRCm39) probably null Het
Slc6a20b A G 9: 123,424,119 (GRCm39) V616A probably benign Het
Smarcc2 A G 10: 128,305,169 (GRCm39) K300R probably damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spata31h1 G T 10: 82,119,501 (GRCm39) A4503E probably damaging Het
Srp68 C T 11: 116,139,573 (GRCm39) V459M probably damaging Het
Stxbp4 C T 11: 90,439,801 (GRCm39) V346I probably benign Het
Syne2 A G 12: 75,999,600 (GRCm39) D2331G probably damaging Het
Ttn A T 2: 76,564,536 (GRCm39) Y28534N probably damaging Het
Usp44 A T 10: 93,682,707 (GRCm39) I386F possibly damaging Het
Vmn2r15 T C 5: 109,436,317 (GRCm39) probably null Het
Vmn2r72 T A 7: 85,387,061 (GRCm39) L834F probably damaging Het
Vps13b T A 15: 35,923,348 (GRCm39) I3741K probably damaging Het
Zdbf2 A G 1: 63,348,232 (GRCm39) T2204A possibly damaging Het
Zfp607b T A 7: 27,393,061 (GRCm39) probably benign 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
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'- AGAAAACAACTGCCGTCTGTAC -3'
(R):5'- ACCGATCTTGACAGGTGGAC -3'

Sequencing Primer
(F):5'- ACAACTGCCGTCTGTACAATGTC -3'
(R):5'- CTTGGGGACAGGGCATCTTC -3'
Posted On 2016-06-21