Mutagenetix > Incidental Mutation

Incidental Mutation 'R9758:Hcn1'

732871

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9758 (G1)

Quality Score

131.467

Status

Not validated

Chromosome

Chromosomal Location

117738856-118117564 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GCA to GCAACA at 118112305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000006991

SMART Domains

Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730

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

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	T	C	2: 113,879,799 (GRCm39)	Y220C	probably damaging	Het
Actmap	T	C	7: 26,896,655 (GRCm39)	S73P	possibly damaging	Het
Bmper	G	A	9: 23,286,902 (GRCm39)	G276D	possibly damaging	Het
C2cd5	A	T	6: 142,984,613 (GRCm39)	M549K	probably benign	Het
Caprin1	A	G	2: 103,606,283 (GRCm39)	V319A	possibly damaging	Het
Cchcr1	G	A	17: 35,839,285 (GRCm39)		probably null	Het
Cdc42bpb	A	T	12: 111,265,783 (GRCm39)	V1383E	possibly damaging	Het
Cep350	T	C	1: 155,770,433 (GRCm39)	E1819G	probably damaging	Het
Ces4a	A	G	8: 105,869,054 (GRCm39)	E163G	possibly damaging	Het
Chrnd	C	T	1: 87,118,792 (GRCm39)	R50*	probably null	Het
Cntn3	A	G	6: 102,183,511 (GRCm39)	S715P	probably damaging	Het
Creb1	A	T	1: 64,598,909 (GRCm39)	R95S	probably benign	Het
Ctdp1	T	C	18: 80,492,710 (GRCm39)	Y595C	probably damaging	Het
Cts7	C	T	13: 61,504,223 (GRCm39)	E86K	probably damaging	Het
Dazap1	A	G	10: 80,113,440 (GRCm39)	N113S	unknown	Het
Dhdds	T	C	4: 133,727,706 (GRCm39)		probably null	Het
Dnaaf9	A	G	2: 130,554,938 (GRCm39)	S998P	probably damaging	Het
Dnah1	T	C	14: 30,985,395 (GRCm39)	D3832G	probably damaging	Het
Drd1	A	G	13: 54,207,182 (GRCm39)	L344P	probably damaging	Het
Fam135b	G	A	15: 71,324,199 (GRCm39)	T1256I	probably benign	Het
Fam234a	A	T	17: 26,432,627 (GRCm39)	D507E	probably benign	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Foxd4	A	T	19: 24,877,670 (GRCm39)	W177R	probably damaging	Het
Fyb2	A	G	4: 104,802,961 (GRCm39)	S288G	probably benign	Het
Gadl1	A	G	9: 115,789,519 (GRCm39)	H275R	probably benign	Het
Gbp5	A	G	3: 142,206,366 (GRCm39)	T17A	probably benign	Het
Gm1110	A	T	9: 26,800,894 (GRCm39)	Y433*	probably null	Het
Gm6408	C	A	5: 146,420,628 (GRCm39)	D169E	probably benign	Het
Gramd2b	T	A	18: 56,611,972 (GRCm39)	V145E	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hif1an	G	A	19: 44,558,378 (GRCm39)	V293M	probably damaging	Het
Hyal3	A	G	9: 107,462,347 (GRCm39)	D127G	probably damaging	Het
Ighg1	T	A	12: 113,293,252 (GRCm39)	D146V	possibly damaging	Het
Iws1	T	A	18: 32,216,347 (GRCm39)	D362E	probably damaging	Het
Kif21b	G	A	1: 136,080,961 (GRCm39)	E601K	probably damaging	Het
Kndc1	C	A	7: 139,500,620 (GRCm39)	P662T	possibly damaging	Het
Krtap13-1	C	T	16: 88,526,229 (GRCm39)	T151I	probably benign	Het
Ndufa10	A	T	1: 92,379,752 (GRCm39)	I327N	probably benign	Het
Or10ag53	A	G	2: 87,082,439 (GRCm39)	I53V	possibly damaging	Het
Or10z1	A	G	1: 174,077,902 (GRCm39)	L197P	probably damaging	Het
Pcdhb14	T	C	18: 37,582,040 (GRCm39)	V382A	probably benign	Het
Pex1	A	T	5: 3,685,876 (GRCm39)	I1206F	probably damaging	Het
Pi4k2b	T	A	5: 52,918,331 (GRCm39)	D386E	probably benign	Het
Pik3c2a	A	G	7: 115,945,427 (GRCm39)	F1460L	probably damaging	Het
Plcb2	A	C	2: 118,545,921 (GRCm39)	M588R	probably damaging	Het
Prl7d1	C	A	13: 27,893,260 (GRCm39)	R216L	possibly damaging	Het
Psg28	G	T	7: 18,156,887 (GRCm39)	Y449*	probably null	Het
Psg28	T	A	7: 18,164,602 (GRCm39)	T37S	probably benign	Het
Psmd9	G	T	5: 123,372,745 (GRCm39)	R76M	probably damaging	Het
Rfc1	T	C	5: 65,459,391 (GRCm39)	D189G	probably benign	Het
Rnf207	A	G	4: 152,397,666 (GRCm39)	S363P	probably benign	Het
Sco1	T	A	11: 66,949,250 (GRCm39)	D239E	probably damaging	Het
Sec24d	C	T	3: 123,136,803 (GRCm39)	T512M	probably damaging	Het
Shkbp1	T	C	7: 27,046,442 (GRCm39)	K441E	probably benign	Het
Slc44a5	A	T	3: 153,959,322 (GRCm39)	I338F	probably damaging	Het
Slc4a3	A	T	1: 75,534,319 (GRCm39)	I1161F	probably damaging	Het
Spmip11	T	A	15: 98,483,264 (GRCm39)	L65I	probably damaging	Het
Tnfsf9	T	A	17: 57,414,355 (GRCm39)	L261M	probably damaging	Het
Trim55	C	T	3: 19,699,498 (GRCm39)	R77C	probably damaging	Het
Vmn2r27	A	G	6: 124,168,637 (GRCm39)	I831T	possibly damaging	Het
Vwa3b	A	G	1: 37,081,438 (GRCm39)	I60V	probably benign	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Zfp54	T	A	17: 21,654,149 (GRCm39)	N214K	probably benign	Het
Zfp707	T	C	15: 75,845,418 (GRCm39)	I94T		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
R0420:Hcn1	UTSW	13	118,111,911 (GRCm39)	missense	unknown
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

Predicted Primers

PCR Primer
(F):5'- GCAGTCTGCAGTCCTCCTATAC -3'
(R):5'- CTGGAGATCAAAGTGGAGACCTC -3'

Sequencing Primer
(F):5'- TGCAGTCCTCCTATACAGAGC -3'
(R):5'- TCAAAGTGGAGACCTCATGGG -3'

Posted On

2022-11-14