Incidental Mutation 'R4051:Hcn2'
ID 314170
Institutional Source Beutler Lab
Gene Symbol Hcn2
Ensembl Gene ENSMUSG00000020331
Gene Name hyperpolarization-activated, cyclic nucleotide-gated K+ 2
Synonyms HAC1, trls
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4051 ()
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79552468-79571942 bp(+) (GRCm39)
Type of Mutation splice site (2440 bp from exon)
DNA Base Change (assembly) A to C at 79569521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020580] [ENSMUST00000020581] [ENSMUST00000099513] [ENSMUST00000159016] [ENSMUST00000162694]
AlphaFold O88703
Predicted Effect probably null
Transcript: ENSMUST00000020580
SMART Domains Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329

DomainStartEndE-ValueType
low complexity region 37 45 N/A INTRINSIC
low complexity region 159 168 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
RPOL_N 373 675 1.59e-92 SMART
low complexity region 703 714 N/A INTRINSIC
Pfam:RNA_pol 802 1207 5.6e-169 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000020581
AA Change: N507T

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: N507T

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 possibly damaging
Transcript: ENSMUST00000099513
AA Change: N507T

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: N507T

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
Predicted Effect probably null
Transcript: ENSMUST00000159016
SMART Domains Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329

DomainStartEndE-ValueType
low complexity region 37 45 N/A INTRINSIC
low complexity region 159 168 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
RPOL_N 373 601 6.27e-50 SMART
low complexity region 629 640 N/A INTRINSIC
Pfam:RNA_pol 727 1133 7.5e-157 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159289
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161098
Predicted Effect probably null
Transcript: ENSMUST00000161662
SMART Domains Protein: ENSMUSP00000124230
Gene: ENSMUSG00000020329

DomainStartEndE-ValueType
Pfam:RNA_pol 29 120 6.7e-39 PFAM
Pfam:RNA_pol 119 393 2.7e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162694
SMART Domains Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329

DomainStartEndE-ValueType
low complexity region 37 45 N/A INTRINSIC
low complexity region 159 168 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
RPOL_N 373 675 1.59e-92 SMART
low complexity region 703 714 N/A INTRINSIC
Pfam:RNA_pol 801 895 6.4e-34 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ahnak A C 19: 8,991,691 (GRCm39) D4325A probably damaging Het
Chtf18 A G 17: 25,938,168 (GRCm39) V955A probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Disc1 A G 8: 125,875,164 (GRCm39) T547A possibly damaging Het
Eif4b A G 15: 101,995,039 (GRCm39) Y211C probably benign Het
Fli1 T G 9: 32,363,458 (GRCm39) D176A probably benign Het
Ice1 A G 13: 70,751,646 (GRCm39) V1480A probably damaging Het
Ier5l A C 2: 30,363,324 (GRCm39) S234A probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Itga11 C T 9: 62,662,933 (GRCm39) Q550* probably null Het
Kdr T A 5: 76,129,068 (GRCm39) M193L probably benign Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Or52m1 T C 7: 102,290,233 (GRCm39) V260A possibly damaging Het
Peg10 T C 6: 4,754,534 (GRCm39) L105P probably benign Het
Phtf1 A G 3: 103,912,824 (GRCm39) T717A possibly damaging Het
Ptafr T C 4: 132,307,305 (GRCm39) W232R probably benign Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Slamf7 T C 1: 171,464,951 (GRCm39) K261E possibly damaging Het
Slc9c1 T A 16: 45,363,593 (GRCm39) Y120N probably damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tbc1d9b T C 11: 50,062,070 (GRCm39) C1210R probably benign Het
Tnfsf10 T A 3: 27,389,503 (GRCm39) I188N probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Usp46 T C 5: 74,163,416 (GRCm39) N283S probably benign Het
Vmn2r84 T G 10: 130,226,767 (GRCm39) N357T probably damaging Het
Zfp217 T C 2: 169,954,536 (GRCm39) probably null Het
Other mutations in Hcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Hcn2 APN 10 79,569,637 (GRCm39) nonsense probably null
IGL01339:Hcn2 APN 10 79,564,902 (GRCm39) missense probably damaging 1.00
IGL02183:Hcn2 APN 10 79,560,647 (GRCm39) critical splice donor site probably null
asombrarse UTSW 10 79,560,445 (GRCm39) missense probably damaging 1.00
curveball UTSW 10 79,560,620 (GRCm39) missense probably damaging 1.00
curveball2 UTSW 10 79,569,607 (GRCm39) nonsense probably null
mire UTSW 10 79,564,947 (GRCm39) critical splice donor site probably null
R0269:Hcn2 UTSW 10 79,570,075 (GRCm39) unclassified probably benign
R0671:Hcn2 UTSW 10 79,570,066 (GRCm39) splice site probably null
R1879:Hcn2 UTSW 10 79,562,023 (GRCm39) missense probably benign 0.03
R1913:Hcn2 UTSW 10 79,566,777 (GRCm39) missense probably benign 0.14
R4052:Hcn2 UTSW 10 79,569,521 (GRCm39) splice site probably null
R4328:Hcn2 UTSW 10 79,560,445 (GRCm39) missense probably damaging 1.00
R4507:Hcn2 UTSW 10 79,560,620 (GRCm39) missense probably damaging 1.00
R4518:Hcn2 UTSW 10 79,560,536 (GRCm39) missense probably benign 0.17
R4578:Hcn2 UTSW 10 79,560,282 (GRCm39) splice site probably null
R5334:Hcn2 UTSW 10 79,562,125 (GRCm39) missense probably damaging 0.99
R5788:Hcn2 UTSW 10 79,552,945 (GRCm39) missense possibly damaging 0.48
R6131:Hcn2 UTSW 10 79,569,742 (GRCm39) missense probably damaging 1.00
R6457:Hcn2 UTSW 10 79,569,607 (GRCm39) nonsense probably null
R6547:Hcn2 UTSW 10 79,552,986 (GRCm39) missense probably benign 0.29
R6851:Hcn2 UTSW 10 79,564,947 (GRCm39) critical splice donor site probably null
R7276:Hcn2 UTSW 10 79,564,934 (GRCm39) missense possibly damaging 0.95
R7706:Hcn2 UTSW 10 79,570,017 (GRCm39) missense possibly damaging 0.78
R7893:Hcn2 UTSW 10 79,560,245 (GRCm39) missense probably damaging 1.00
R8208:Hcn2 UTSW 10 79,566,778 (GRCm39) missense possibly damaging 0.94
R8677:Hcn2 UTSW 10 79,560,619 (GRCm39) missense probably benign 0.28
R9333:Hcn2 UTSW 10 79,561,991 (GRCm39) missense possibly damaging 0.56
R9527:Hcn2 UTSW 10 79,570,706 (GRCm39) missense probably benign 0.05
R9594:Hcn2 UTSW 10 79,560,559 (GRCm39) missense probably damaging 1.00
R9602:Hcn2 UTSW 10 79,562,128 (GRCm39) missense probably benign 0.05
R9604:Hcn2 UTSW 10 79,564,787 (GRCm39) missense probably damaging 1.00
X0024:Hcn2 UTSW 10 79,569,954 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTATGGTGGTATGGGGACTACAG -3'
(R):5'- AGCCATCCGACAGCTTCATC -3'

Sequencing Primer
(F):5'- GGGGACTACAGACTTTCCTGTATAC -3'
(R):5'- TTGCCCTTGGTGAGCAC -3'
Posted On 2015-04-30