Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Hcn2'

284353

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

79716634-79736108 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 79724813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020581] [ENSMUST00000099513]

AlphaFold

O88703

Predicted Effect

probably null
Transcript: ENSMUST00000020581

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331

Domain	Start	End	E-Value	Type
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

probably null
Transcript: ENSMUST00000099513

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Hcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Hcn2	APN	10	79733803	nonsense	probably null
IGL01339:Hcn2	APN	10	79729068	missense	probably damaging	1.00
asombrarse	UTSW	10	79724611	missense	probably damaging	1.00
curveball	UTSW	10	79724786	missense	probably damaging	1.00
curveball2	UTSW	10	79733773	nonsense	probably null
mire	UTSW	10	79729113	critical splice donor site	probably null
R0269:Hcn2	UTSW	10	79734241	unclassified	probably benign
R0671:Hcn2	UTSW	10	79734232	splice site	probably null
R1879:Hcn2	UTSW	10	79726189	missense	probably benign	0.03
R1913:Hcn2	UTSW	10	79730943	missense	probably benign	0.14
R4051:Hcn2	UTSW	10	79733687	splice site	probably null
R4052:Hcn2	UTSW	10	79733687	splice site	probably null
R4328:Hcn2	UTSW	10	79724611	missense	probably damaging	1.00
R4507:Hcn2	UTSW	10	79724786	missense	probably damaging	1.00
R4518:Hcn2	UTSW	10	79724702	missense	probably benign	0.17
R4578:Hcn2	UTSW	10	79724448	splice site	probably null
R5334:Hcn2	UTSW	10	79726291	missense	probably damaging	0.99
R5788:Hcn2	UTSW	10	79717111	missense	possibly damaging	0.48
R6131:Hcn2	UTSW	10	79733908	missense	probably damaging	1.00
R6457:Hcn2	UTSW	10	79733773	nonsense	probably null
R6547:Hcn2	UTSW	10	79717152	missense	probably benign	0.29
R6851:Hcn2	UTSW	10	79729113	critical splice donor site	probably null
R7276:Hcn2	UTSW	10	79729100	missense	possibly damaging	0.95
R7706:Hcn2	UTSW	10	79734183	missense	possibly damaging	0.78
R7893:Hcn2	UTSW	10	79724411	missense	probably damaging	1.00
R8208:Hcn2	UTSW	10	79730944	missense	possibly damaging	0.94
R8677:Hcn2	UTSW	10	79724785	missense	probably benign	0.28
R9333:Hcn2	UTSW	10	79726157	missense	possibly damaging	0.56
R9527:Hcn2	UTSW	10	79734872	missense	probably benign	0.05
R9594:Hcn2	UTSW	10	79724725	missense	probably damaging	1.00
R9602:Hcn2	UTSW	10	79726294	missense	probably benign	0.05
R9604:Hcn2	UTSW	10	79728953	missense	probably damaging	1.00
X0024:Hcn2	UTSW	10	79734120	missense	probably damaging	1.00

Posted On

2015-04-16