Mutagenetix > Incidental Mutation

Incidental Mutation 'R1667:Hcn1'

187313

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

039703-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117738856-118117564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117739609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 124 (I124F)

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: I124F

SMART Domains

Protein: ENSMUSP00000006991
Gene: ENSMUSG00000021730
AA Change: I124F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207599

Meta Mutation Damage Score

0.8385

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (76/77)

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
Adgra1	G	A	7: 139,425,564 (GRCm39)	A26T	possibly damaging	Het
Adgrg3	T	A	8: 95,760,001 (GRCm39)	Y73*	probably null	Het
Alk	A	T	17: 72,218,562 (GRCm39)	V761E	probably damaging	Het
Ankrd13a	T	C	5: 114,924,794 (GRCm39)	V93A	possibly damaging	Het
Anks1b	T	C	10: 90,347,046 (GRCm39)		probably null	Het
Arb2a	T	A	13: 77,907,635 (GRCm39)	M1K	probably null	Het
Ascl1	T	C	10: 87,328,655 (GRCm39)	N99S	probably benign	Het
Atm	A	T	9: 53,412,232 (GRCm39)	L972Q	probably damaging	Het
Atp2c1	A	T	9: 105,309,996 (GRCm39)	L566Q	probably null	Het
Bank1	T	A	3: 135,799,057 (GRCm39)	Y629F	probably damaging	Het
Bod1l	G	T	5: 41,974,118 (GRCm39)	L2399I	probably benign	Het
Bub1b	G	A	2: 118,471,670 (GRCm39)	G1010D	probably benign	Het
Ces1b	G	A	8: 93,783,532 (GRCm39)	H563Y	possibly damaging	Het
Cfap70	T	C	14: 20,454,225 (GRCm39)	E853G	probably benign	Het
Cfh	T	C	1: 140,033,261 (GRCm39)	E779G	probably benign	Het
Cox7c	A	G	13: 86,194,003 (GRCm39)	S7P	probably benign	Het
Cyp2c67	A	G	19: 39,632,034 (GRCm39)		probably null	Het
Dhx30	G	T	9: 109,914,513 (GRCm39)	L995I	possibly damaging	Het
Dhx30	G	C	9: 109,914,514 (GRCm39)	N957K	possibly damaging	Het
Dsc3	T	C	18: 20,124,617 (GRCm39)	T36A	possibly damaging	Het
Dstyk	A	G	1: 132,384,657 (GRCm39)	D717G	probably damaging	Het
Dusp10	A	G	1: 183,769,055 (GRCm39)	D7G	probably damaging	Het
E230001N04Rik	T	G	17: 28,742,935 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,456,588 (GRCm39)	S330P	possibly damaging	Het
Frmd5	ATAGTGGAATTGTTCAAACTC	ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC	2: 121,379,211 (GRCm39)		probably null	Het
Gata3	T	C	2: 9,882,360 (GRCm39)	H14R	possibly damaging	Het
Ggta1	T	A	2: 35,304,295 (GRCm39)	I75F	possibly damaging	Het
Herpud1	A	C	8: 95,115,994 (GRCm39)	D53A	probably damaging	Het
Inhba	T	A	13: 16,201,209 (GRCm39)	L257Q	possibly damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Jmy	T	A	13: 93,634,878 (GRCm39)	S313C	probably damaging	Het
Lpo	G	A	11: 87,698,067 (GRCm39)		probably benign	Het
Lsg1	T	C	16: 30,390,170 (GRCm39)	E315G	probably damaging	Het
Lsm14a	T	A	7: 34,065,079 (GRCm39)	T167S	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map3k2	T	C	18: 32,336,845 (GRCm39)		probably benign	Het
Mapk12	A	T	15: 89,024,344 (GRCm39)	M81K	probably damaging	Het
Matn2	T	A	15: 34,378,878 (GRCm39)	C305S	probably damaging	Het
Mgam	T	C	6: 40,653,978 (GRCm39)	Y844H	possibly damaging	Het
Mgat5b	A	G	11: 116,838,203 (GRCm39)	R281G	probably benign	Het
Mon1b	T	G	8: 114,368,589 (GRCm39)	C497G	probably damaging	Het
Mybbp1a	A	T	11: 72,336,043 (GRCm39)	H452L	probably benign	Het
Mybl2	A	G	2: 162,917,616 (GRCm39)	T41A	probably damaging	Het
Ncoa5	A	G	2: 164,843,623 (GRCm39)	V540A	probably damaging	Het
Nup93	T	A	8: 95,019,315 (GRCm39)	V47E	possibly damaging	Het
Or10a4	A	T	7: 106,696,977 (GRCm39)	M102L	probably benign	Het
Or5j3	A	G	2: 86,129,080 (GRCm39)	M307V	probably null	Het
Orc6	T	A	8: 86,031,914 (GRCm39)	C100S	possibly damaging	Het
Otogl	G	T	10: 107,649,826 (GRCm39)	Y1176*	probably null	Het
Patj	A	T	4: 98,301,264 (GRCm39)	D183V	probably damaging	Het
Pik3r3	A	G	4: 116,079,514 (GRCm39)	T4A	probably damaging	Het
Pla2g4d	G	A	2: 120,100,631 (GRCm39)		probably benign	Het
Pla2r1	A	G	2: 60,250,601 (GRCm39)	I1407T	probably benign	Het
Pramel13	A	T	4: 144,119,606 (GRCm39)	C320*	probably null	Het
Prex2	A	T	1: 11,256,981 (GRCm39)	H1231L	probably benign	Het
Prkca	A	G	11: 107,874,772 (GRCm39)	V390A	probably damaging	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rec8	T	A	14: 55,856,253 (GRCm39)	N37K	probably damaging	Het
Rnf207	C	T	4: 152,397,672 (GRCm39)	E361K	probably benign	Het
Serpina3f	T	A	12: 104,183,699 (GRCm39)	L187Q	probably damaging	Het
Skint11	A	T	4: 114,051,978 (GRCm39)	T109S	probably damaging	Het
Slc7a8	A	G	14: 54,962,306 (GRCm39)	S443P	probably damaging	Het
Slc8b1	T	A	5: 120,659,147 (GRCm39)	F197Y	probably benign	Het
Sox2	T	C	3: 34,704,568 (GRCm39)	Y2H	probably damaging	Het
Speg	T	A	1: 75,387,193 (GRCm39)		probably benign	Het
Tlr3	T	C	8: 45,853,874 (GRCm39)	N149D	probably benign	Het
Trim60	A	C	8: 65,454,116 (GRCm39)	D44E	probably benign	Het
Ugt1a7c	A	G	1: 88,023,657 (GRCm39)	Y272C	probably damaging	Het
Vmn1r4	T	A	6: 56,933,738 (GRCm39)	Y81N	probably damaging	Het
Vmn2r73	A	T	7: 85,506,889 (GRCm39)	C808S	probably benign	Het
Ythdf3	T	C	3: 16,259,056 (GRCm39)	I412T	possibly damaging	Het
Zfp672	T	C	11: 58,206,921 (GRCm39)	T467A	possibly damaging	Het
Zfp985	A	T	4: 147,668,407 (GRCm39)	Q425L	possibly damaging	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
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'- TGGCAACTCCGTGTGCTTCAAG -3'
(R):5'- TGCTGTCCCCAAAGTTCACCAG -3'

Sequencing Primer
(F):5'- TGCTTCAAGGTGGACGGC -3'
(R):5'- ACCCTAAACCTGTCGTCGG -3'

Posted On

2014-05-09