Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02324:Hcn1'

288393

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hcn1

Ensembl Gene

ENSMUSG00000021730

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 1

Synonyms

HAC2, Bcng1, C630013B14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02324

Quality Score

Status

Chromosome

Chromosomal Location

117602320-117987418 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117902886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 446 (L446P)

Ref Sequence

ENSEMBL: ENSMUSP00000006991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006991]

AlphaFold

O88704

PDB Structure

Tetramerization dynamics of the C-terminus underlies isoform-specific cAMP-gating in HCN channels [X-RAY DIFFRACTION]

Predicted Effect

unknown
Transcript: ENSMUST00000006991
AA Change: L446P

SMART Domains

Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: L446P

Domain	Start	End	E-Value	Type
Pfam:Ion_trans_N	87	130	8.2e-24	PFAM
Pfam:Ion_trans	131	394	2.1e-23	PFAM
low complexity region	395	406	N/A	INTRINSIC
Blast:cNMP	407	439	4e-13	BLAST
cNMP	464	580	1.95e-22	SMART
low complexity region	639	655	N/A	INTRINSIC
low complexity region	660	680	N/A	INTRINSIC
low complexity region	720	779	N/A	INTRINSIC
low complexity region	878	886	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this allele display learning deficiencies but are otherwise normal. Mice homozygous for another targeted knock-out exhibit deficit in hyperpolarization-activated currents and cold allodynia following partial nerve ligation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	A	3: 151,497,874	C124S	probably damaging	Het
Aldh1a7	T	C	19: 20,727,004	N42S	probably damaging	Het
Arhgef1	T	C	7: 24,923,815	L667P	probably damaging	Het
C1qb	C	A	4: 136,880,500	R184L	possibly damaging	Het
Cacna1s	A	G	1: 136,075,176		probably benign	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Copg2	C	A	6: 30,863,534		probably null	Het
Cyp2d40	A	T	15: 82,760,948		probably benign	Het
Cyp2j6	A	G	4: 96,525,933	I365T	probably damaging	Het
Dhx29	A	G	13: 112,927,808	K6E	probably damaging	Het
Dpp10	T	A	1: 123,367,802	T539S	probably benign	Het
Ehbp1	A	T	11: 22,096,048	I542K	probably damaging	Het
Fat1	A	G	8: 45,040,556	Y3913C	probably damaging	Het
Flt4	C	T	11: 49,645,995	T1264I	probably benign	Het
Fmnl1	A	G	11: 103,179,538	D51G	probably damaging	Het
Gm17093	A	G	14: 44,518,350	T25A	unknown	Het
Gpatch2	A	G	1: 187,225,739	E97G	probably damaging	Het
Hpse2	A	T	19: 42,931,599	L354I	probably damaging	Het
Hspa4	A	G	11: 53,300,058		probably null	Het
Krtap16-1	C	T	11: 99,986,303	V92M	probably damaging	Het
Med23	A	T	10: 24,897,341	Q281L	probably damaging	Het
Megf8	T	C	7: 25,340,448	S963P	probably benign	Het
Mical1	G	A	10: 41,486,664	E932K	possibly damaging	Het
Mycbp2	A	G	14: 103,242,207	S1217P	probably damaging	Het
Myocd	C	A	11: 65,178,658	L785F	probably benign	Het
Nell2	T	C	15: 95,229,101	T798A	probably damaging	Het
Nfat5	T	C	8: 107,366,176		probably benign	Het
Olfm5	T	C	7: 104,154,095		probably null	Het
Olfr385	A	G	11: 73,589,255	V161A	probably benign	Het
P2ry1	A	T	3: 61,003,778	N113Y	possibly damaging	Het
Pan3	A	G	5: 147,530,123		probably null	Het
Pappa	A	G	4: 65,196,808	R714G	probably damaging	Het
Plcd1	A	G	9: 119,072,642	F579L	probably damaging	Het
Ptprb	T	C	10: 116,319,333	V664A	probably benign	Het
Slc27a5	T	A	7: 12,997,560	Q168L	probably benign	Het
Spag8	T	C	4: 43,651,781	E395G	probably damaging	Het
Stfa2l1	T	C	16: 36,161,768	Y70H	probably damaging	Het
Taf2	T	C	15: 55,028,376	N1017S	probably benign	Het
Tnfrsf25	C	A	4: 152,119,322	Q296K	probably damaging	Het
Trpm3	T	A	19: 22,698,779	I103N	probably benign	Het

Other mutations in Hcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Hcn1	APN	13	117975993	missense	probably damaging	1.00
IGL00340:Hcn1	APN	13	117602977	missense	unknown
IGL01161:Hcn1	APN	13	117656922	missense	unknown
IGL01723:Hcn1	APN	13	117976055	missense	probably damaging	0.98
IGL02491:Hcn1	APN	13	117810040	missense	unknown
Thump	UTSW	13	117873905	nonsense	probably null
FR4976:Hcn1	UTSW	13	117975808	small insertion	probably benign
PIT4504001:Hcn1	UTSW	13	117975875	missense	possibly damaging	0.90
R0420:Hcn1	UTSW	13	117975375	missense	unknown
R1546:Hcn1	UTSW	13	117975766	small insertion	probably benign
R1558:Hcn1	UTSW	13	117975576	missense	unknown
R1659:Hcn1	UTSW	13	117976074	missense	probably damaging	0.99
R1667:Hcn1	UTSW	13	117603073	missense	unknown
R1766:Hcn1	UTSW	13	117656734	missense	probably benign	0.39
R1842:Hcn1	UTSW	13	117976008	missense	probably damaging	0.99
R2051:Hcn1	UTSW	13	117976083	missense	probably damaging	0.99
R3605:Hcn1	UTSW	13	117975252	missense	unknown
R4259:Hcn1	UTSW	13	117975348	missense	unknown
R4284:Hcn1	UTSW	13	117975733	small deletion	probably benign
R4637:Hcn1	UTSW	13	117975713	missense	unknown
R4679:Hcn1	UTSW	13	117657015	missense	probably benign	0.39
R4777:Hcn1	UTSW	13	117975733	small deletion	probably benign
R4839:Hcn1	UTSW	13	117925710	missense	unknown
R4883:Hcn1	UTSW	13	117902895	critical splice donor site	probably null
R5015:Hcn1	UTSW	13	117603020	missense	unknown
R5060:Hcn1	UTSW	13	117873905	nonsense	probably null
R5748:Hcn1	UTSW	13	117976055	missense	probably damaging	0.99
R5823:Hcn1	UTSW	13	117602852	missense	unknown
R6900:Hcn1	UTSW	13	117656827	missense	probably benign	0.39
R7045:Hcn1	UTSW	13	117975462	missense	unknown
R7049:Hcn1	UTSW	13	117975462	missense	unknown
R7163:Hcn1	UTSW	13	117925547	missense	unknown
R7534:Hcn1	UTSW	13	117975425	missense	unknown
R7722:Hcn1	UTSW	13	117902778	missense	unknown
R7984:Hcn1	UTSW	13	117976073	nonsense	probably null
R8083:Hcn1	UTSW	13	117975760	small insertion	probably benign
R8171:Hcn1	UTSW	13	117602734	missense	unknown
R8223:Hcn1	UTSW	13	117873870	missense	unknown
R8240:Hcn1	UTSW	13	117975733	small deletion	probably benign
R8853:Hcn1	UTSW	13	117975733	small deletion	probably benign
R9054:Hcn1	UTSW	13	117971635	missense	unknown
R9224:Hcn1	UTSW	13	117925718	missense	unknown
R9241:Hcn1	UTSW	13	117656713	missense	probably benign	0.39
R9324:Hcn1	UTSW	13	117975365	missense	unknown
R9632:Hcn1	UTSW	13	117873986	missense	probably benign	0.39
R9758:Hcn1	UTSW	13	117975769	small insertion	probably benign

Posted On

2015-04-16