Mutagenetix > Incidental Mutation

Incidental Mutation 'R0420:Hcn1'

37015

Institutional Source

Beutler Lab

Gene Symbol

Hcn1

Ensembl Gene

ENSMUSG00000021730

Gene Name

hyperpolarization activated cyclic nucleotide gated potassium channel 1

Synonyms

C630013B14Rik, HAC2, hyperpolarization-activated, cyclic nucleotide-gated K+ 1, Bcng1

MMRRC Submission

038622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117738856-118117564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118111911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 625 (I625T)

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: I625T

SMART Domains

Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: I625T

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

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

100% (76/76)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,991,050 (GRCm39)	V870A	probably benign	Het
Adam6b	A	T	12: 113,453,614 (GRCm39)	M144L	probably benign	Het
Adrb2	T	A	18: 62,312,610 (GRCm39)	I72L	possibly damaging	Het
Ankrd53	A	T	6: 83,740,674 (GRCm39)	H99L	probably damaging	Het
Ap4e1	C	T	2: 126,891,280 (GRCm39)	T17M	probably damaging	Het
Arnt	T	A	3: 95,377,705 (GRCm39)		probably benign	Het
Atp1a3	C	T	7: 24,680,052 (GRCm39)	G884E	probably benign	Het
Atp6v1b1	T	C	6: 83,729,826 (GRCm39)		probably benign	Het
Atp8a2	G	T	14: 60,011,193 (GRCm39)	T971K	probably damaging	Het
BC048562	A	T	9: 108,323,165 (GRCm39)	T167S	probably benign	Het
Brd9	A	G	13: 74,103,592 (GRCm39)	M491V	probably benign	Het
Btnl10	A	T	11: 58,814,277 (GRCm39)	D319V	probably damaging	Het
Cadps	T	A	14: 12,491,800 (GRCm38)	R783S	probably damaging	Het
Ccdc149	A	G	5: 52,557,581 (GRCm39)		probably benign	Het
Ccm2l	A	T	2: 152,912,782 (GRCm39)	D107V	probably null	Het
Cep192	A	G	18: 67,946,964 (GRCm39)	E213G	possibly damaging	Het
Cyp2c37	A	C	19: 39,984,238 (GRCm39)	N242T	probably benign	Het
Dnah17	A	G	11: 117,930,765 (GRCm39)	V3750A	probably damaging	Het
Ehbp1	T	A	11: 22,101,836 (GRCm39)	I231L	probably benign	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eya4	T	C	10: 23,031,861 (GRCm39)	N254S	possibly damaging	Het
Fam184b	A	G	5: 45,741,854 (GRCm39)	S126P	probably damaging	Het
Fancd2	T	C	6: 113,513,940 (GRCm39)	L108P	probably damaging	Het
Fgf12	A	T	16: 27,981,281 (GRCm39)	M145K	possibly damaging	Het
Gabbr1	A	G	17: 37,357,654 (GRCm39)	N23S	possibly damaging	Het
Ggt1	T	A	10: 75,412,047 (GRCm39)		probably benign	Het
Gm6434	T	A	7: 25,581,786 (GRCm39)		noncoding transcript	Het
Grik4	A	T	9: 42,533,392 (GRCm39)	L376*	probably null	Het
Gvin3	T	A	7: 106,203,090 (GRCm39)	L51F	probably damaging	Het
Gzf1	A	G	2: 148,525,753 (GRCm39)	T75A	probably benign	Het
Hhat	C	T	1: 192,235,242 (GRCm39)		probably null	Het
Ifit1bl1	T	C	19: 34,571,914 (GRCm39)	E181G	probably damaging	Het
Kif21a	T	C	15: 90,852,257 (GRCm39)		probably benign	Het
Lrrc45	A	C	11: 120,606,045 (GRCm39)	S118R	probably damaging	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Ms4a5	A	G	19: 11,261,018 (GRCm39)	L47S	probably damaging	Het
Mynn	A	T	3: 30,661,608 (GRCm39)	N230I	probably benign	Het
Nck2	T	C	1: 43,593,278 (GRCm39)	S162P	probably damaging	Het
Nfat5	T	C	8: 108,094,093 (GRCm39)	F259S	probably damaging	Het
Obox1	T	G	7: 15,290,178 (GRCm39)	S174A	possibly damaging	Het
Ociad1	T	A	5: 73,470,772 (GRCm39)		probably null	Het
Pgbd1	A	T	13: 21,607,336 (GRCm39)	V286E	possibly damaging	Het
Phlpp2	T	C	8: 110,666,567 (GRCm39)	V1032A	probably damaging	Het
Ppm1e	C	T	11: 87,131,440 (GRCm39)	A318T	probably damaging	Het
Prex1	T	A	2: 166,431,491 (GRCm39)	D757V	probably benign	Het
Ptpdc1	C	A	13: 48,742,595 (GRCm39)		probably null	Het
Rbbp5	T	G	1: 132,421,582 (GRCm39)	I94R	possibly damaging	Het
Rnpc3	A	G	3: 113,415,518 (GRCm39)	V173A	probably benign	Het
Sgsm1	A	T	5: 113,411,625 (GRCm39)	N700K	probably benign	Het
Slco1a8	T	G	6: 141,931,203 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,175 (GRCm39)	H188L	probably damaging	Het
Spmip11	A	G	15: 98,468,975 (GRCm39)	S17G	probably benign	Het
Supt5	T	A	7: 28,016,754 (GRCm39)		probably benign	Het
Synpo	A	G	18: 60,735,490 (GRCm39)	S819P	probably damaging	Het
Tenm2	A	G	11: 36,097,951 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,522,973 (GRCm39)	V1468A	possibly damaging	Het
Tiam2	A	G	17: 3,553,193 (GRCm39)	N83S	probably benign	Het
Tle6	T	C	10: 81,431,145 (GRCm39)		probably benign	Het
Tm2d2	T	G	8: 25,508,130 (GRCm39)	N91K	probably damaging	Het
Tmem132d	T	G	5: 127,941,710 (GRCm39)	Q463H	probably benign	Het
Tmf1	A	G	6: 97,153,102 (GRCm39)	S324P	probably damaging	Het
Tnc	T	C	4: 63,918,396 (GRCm39)	T1172A	probably benign	Het
Usp17lb	A	T	7: 104,489,746 (GRCm39)	C393S	probably benign	Het
Usp42	G	A	5: 143,700,616 (GRCm39)	L1136F	probably damaging	Het
Vmn2r92	T	G	17: 18,389,183 (GRCm39)	M499R	probably benign	Het
Vps54	T	A	11: 21,261,071 (GRCm39)		probably benign	Het
Wdr6	C	T	9: 108,450,300 (GRCm39)	R1076H	probably benign	Het
Wdr72	T	A	9: 74,118,039 (GRCm39)	M917K	possibly damaging	Het
Wee2	T	C	6: 40,433,929 (GRCm39)	V281A	probably benign	Het
Zc3h6	A	G	2: 128,856,747 (GRCm39)	D609G	probably benign	Het
Zfp345	G	A	2: 150,315,163 (GRCm39)	H125Y	possibly damaging	Het
Zhx2	A	G	15: 57,685,236 (GRCm39)	K202E	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Hcn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Hcn1	APN	13	118,112,529 (GRCm39)	missense	probably damaging	1.00
IGL00340:Hcn1	APN	13	117,739,513 (GRCm39)	missense	unknown
IGL01161:Hcn1	APN	13	117,793,458 (GRCm39)	missense	unknown
IGL01723:Hcn1	APN	13	118,112,591 (GRCm39)	missense	probably damaging	0.98
IGL02324:Hcn1	APN	13	118,039,422 (GRCm39)	missense	unknown
IGL02491:Hcn1	APN	13	117,946,576 (GRCm39)	missense	unknown
Thump	UTSW	13	118,010,441 (GRCm39)	nonsense	probably null
FR4976:Hcn1	UTSW	13	118,112,344 (GRCm39)	small insertion	probably benign
PIT4504001:Hcn1	UTSW	13	118,112,411 (GRCm39)	missense	possibly damaging	0.90
R1546:Hcn1	UTSW	13	118,112,302 (GRCm39)	small insertion	probably benign
R1558:Hcn1	UTSW	13	118,112,112 (GRCm39)	missense	unknown
R1659:Hcn1	UTSW	13	118,112,610 (GRCm39)	missense	probably damaging	0.99
R1667:Hcn1	UTSW	13	117,739,609 (GRCm39)	missense	unknown
R1766:Hcn1	UTSW	13	117,793,270 (GRCm39)	missense	probably benign	0.39
R1842:Hcn1	UTSW	13	118,112,544 (GRCm39)	missense	probably damaging	0.99
R2051:Hcn1	UTSW	13	118,112,619 (GRCm39)	missense	probably damaging	0.99
R3605:Hcn1	UTSW	13	118,111,788 (GRCm39)	missense	unknown
R4259:Hcn1	UTSW	13	118,111,884 (GRCm39)	missense	unknown
R4284:Hcn1	UTSW	13	118,112,269 (GRCm39)	small deletion	probably benign
R4637:Hcn1	UTSW	13	118,112,249 (GRCm39)	missense	unknown
R4679:Hcn1	UTSW	13	117,793,551 (GRCm39)	missense	probably benign	0.39
R4777:Hcn1	UTSW	13	118,112,269 (GRCm39)	small deletion	probably benign
R4839:Hcn1	UTSW	13	118,062,246 (GRCm39)	missense	unknown
R4883:Hcn1	UTSW	13	118,039,431 (GRCm39)	critical splice donor site	probably null
R5015:Hcn1	UTSW	13	117,739,556 (GRCm39)	missense	unknown
R5060:Hcn1	UTSW	13	118,010,441 (GRCm39)	nonsense	probably null
R5748:Hcn1	UTSW	13	118,112,591 (GRCm39)	missense	probably damaging	0.99
R5823:Hcn1	UTSW	13	117,739,388 (GRCm39)	missense	unknown
R6900:Hcn1	UTSW	13	117,793,363 (GRCm39)	missense	probably benign	0.39
R7045:Hcn1	UTSW	13	118,111,998 (GRCm39)	missense	unknown
R7049:Hcn1	UTSW	13	118,111,998 (GRCm39)	missense	unknown
R7163:Hcn1	UTSW	13	118,062,083 (GRCm39)	missense	unknown
R7534:Hcn1	UTSW	13	118,111,961 (GRCm39)	missense	unknown
R7722:Hcn1	UTSW	13	118,039,314 (GRCm39)	missense	unknown
R7984:Hcn1	UTSW	13	118,112,609 (GRCm39)	nonsense	probably null
R8083:Hcn1	UTSW	13	118,112,296 (GRCm39)	small insertion	probably benign
R8171:Hcn1	UTSW	13	117,739,270 (GRCm39)	missense	unknown
R8223:Hcn1	UTSW	13	118,010,406 (GRCm39)	missense	unknown
R8240:Hcn1	UTSW	13	118,112,269 (GRCm39)	small deletion	probably benign
R8853:Hcn1	UTSW	13	118,112,269 (GRCm39)	small deletion	probably benign
R9054:Hcn1	UTSW	13	118,108,171 (GRCm39)	missense	unknown
R9224:Hcn1	UTSW	13	118,062,254 (GRCm39)	missense	unknown
R9241:Hcn1	UTSW	13	117,793,249 (GRCm39)	missense	probably benign	0.39
R9324:Hcn1	UTSW	13	118,111,901 (GRCm39)	missense	unknown
R9632:Hcn1	UTSW	13	118,010,522 (GRCm39)	missense	probably benign	0.39
R9758:Hcn1	UTSW	13	118,112,305 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGATTCTAGGCCCAGCCTGACC -3'
(R):5'- AGTCTGAGTCTGAGTCTGCTGTACC -3'

Sequencing Primer
(F):5'- CTGACATAAGTCACCTTGGAGTAGC -3'
(R):5'- AGGCTGCTGCATGAGTGAC -3'

Posted On

2013-05-09