Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01339:Hcn2'

74783

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 #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

79552468-79571942 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79564902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 438 (L438P)

Ref Sequence

ENSEMBL: ENSMUSP00000097113 (fasta)

Gene Model

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

AlphaFold

O88703

Predicted Effect

probably damaging
Transcript: ENSMUST00000020581
AA Change: L438P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: L438P

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 damaging
Transcript: ENSMUST00000099513
AA Change: L438P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: L438P

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,180,338 (GRCm39)	T2565A	probably damaging	Het
C8a	A	C	4: 104,685,182 (GRCm39)	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543 (GRCm38)	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,956,855 (GRCm39)	I351N	probably damaging	Het
Clec7a	A	T	6: 129,442,449 (GRCm39)	W193R	probably damaging	Het
Clint1	T	C	11: 45,799,846 (GRCm39)	V535A	probably benign	Het
Clu	A	G	14: 66,213,037 (GRCm39)	E141G	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cntn2	A	T	1: 132,446,643 (GRCm39)		probably null	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cyp2d10	C	T	15: 82,288,042 (GRCm39)	A195T	probably benign	Het
Dnah10	G	T	5: 124,854,276 (GRCm39)	K1901N	probably damaging	Het
Dnai3	T	C	3: 145,748,591 (GRCm39)	Y841C	probably benign	Het
Dop1a	G	A	9: 86,433,730 (GRCm39)	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,914,770 (GRCm39)	E308G	probably damaging	Het
Exoc4	T	C	6: 33,282,335 (GRCm39)		probably benign	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbn2	T	C	18: 58,246,442 (GRCm39)	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,816 (GRCm39)	E98G	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gls	C	T	1: 52,227,867 (GRCm39)	D217N	probably damaging	Het
Gm6994	A	G	14: 77,718,618 (GRCm39)		probably benign	Het
Gpr149	A	T	3: 62,511,718 (GRCm39)	W94R	probably damaging	Het
Gpr158	A	G	2: 21,373,842 (GRCm39)	D259G	possibly damaging	Het
Hgd	A	C	16: 37,452,092 (GRCm39)	T374P	possibly damaging	Het
Ints3	A	G	3: 90,322,463 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,276,749 (GRCm39)	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,388,763 (GRCm39)	S2221P	unknown	Het
Ltk	T	A	2: 119,583,455 (GRCm39)	D310V	probably damaging	Het
Luzp1	T	A	4: 136,270,087 (GRCm39)	M770K	probably damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,781,399 (GRCm39)	H71L	probably benign	Het
Necap2	G	A	4: 140,802,276 (GRCm39)	T63I	probably benign	Het
Nefl	A	G	14: 68,323,931 (GRCm39)		probably benign	Het
Odam	G	A	5: 88,033,755 (GRCm39)		probably null	Het
Pcdh18	A	G	3: 49,710,247 (GRCm39)	I356T	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Pde2a	T	C	7: 101,156,366 (GRCm39)	S593P	probably benign	Het
Rapgef3	A	T	15: 97,655,940 (GRCm39)	L359M	probably damaging	Het
Rb1	T	C	14: 73,501,811 (GRCm39)		probably null	Het
Rbm44	A	G	1: 91,096,686 (GRCm39)	I976V	probably benign	Het
Rdh13	A	T	7: 4,430,623 (GRCm39)	S278R	probably damaging	Het
Rgma	A	G	7: 73,067,231 (GRCm39)	E256G	probably damaging	Het
Rnf112	A	T	11: 61,341,303 (GRCm39)	D402E	probably benign	Het
Rnps1	T	A	17: 24,641,273 (GRCm39)	D224E	probably damaging	Het
Scn10a	C	T	9: 119,451,832 (GRCm39)	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,156,304 (GRCm39)	R535H	probably benign	Het
Scn8a	A	T	15: 100,930,082 (GRCm39)	D1431V	probably benign	Het
Setdb1	A	T	3: 95,245,891 (GRCm39)	L677*	probably null	Het
Slc17a8	T	A	10: 89,427,106 (GRCm39)	I148F	probably damaging	Het
Slx4ip	T	A	2: 136,885,975 (GRCm39)	C98*	probably null	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Tcof1	T	C	18: 60,951,167 (GRCm39)		probably benign	Het
Tdrd3	G	A	14: 87,718,230 (GRCm39)	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tmod4	G	A	3: 95,035,608 (GRCm39)	R252H	probably benign	Het
Tti1	G	T	2: 157,851,050 (GRCm39)	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,535,594 (GRCm39)	D109E	probably damaging	Het
Zcchc2	T	C	1: 105,957,505 (GRCm39)	S659P	probably damaging	Het

Other mutations in Hcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Hcn2	APN	10	79,569,637 (GRCm39)	nonsense	probably null
IGL02183:Hcn2	APN	10	79,560,647 (GRCm39)	critical splice donor site	probably null
asombrarse	UTSW	10	79,560,445 (GRCm39)	missense	probably damaging	1.00
curveball	UTSW	10	79,560,620 (GRCm39)	missense	probably damaging	1.00
curveball2	UTSW	10	79,569,607 (GRCm39)	nonsense	probably null
mire	UTSW	10	79,564,947 (GRCm39)	critical splice donor site	probably null
R0269:Hcn2	UTSW	10	79,570,075 (GRCm39)	unclassified	probably benign
R0671:Hcn2	UTSW	10	79,570,066 (GRCm39)	splice site	probably null
R1879:Hcn2	UTSW	10	79,562,023 (GRCm39)	missense	probably benign	0.03
R1913:Hcn2	UTSW	10	79,566,777 (GRCm39)	missense	probably benign	0.14
R4051:Hcn2	UTSW	10	79,569,521 (GRCm39)	splice site	probably null
R4052:Hcn2	UTSW	10	79,569,521 (GRCm39)	splice site	probably null
R4328:Hcn2	UTSW	10	79,560,445 (GRCm39)	missense	probably damaging	1.00
R4507:Hcn2	UTSW	10	79,560,620 (GRCm39)	missense	probably damaging	1.00
R4518:Hcn2	UTSW	10	79,560,536 (GRCm39)	missense	probably benign	0.17
R4578:Hcn2	UTSW	10	79,560,282 (GRCm39)	splice site	probably null
R5334:Hcn2	UTSW	10	79,562,125 (GRCm39)	missense	probably damaging	0.99
R5788:Hcn2	UTSW	10	79,552,945 (GRCm39)	missense	possibly damaging	0.48
R6131:Hcn2	UTSW	10	79,569,742 (GRCm39)	missense	probably damaging	1.00
R6457:Hcn2	UTSW	10	79,569,607 (GRCm39)	nonsense	probably null
R6547:Hcn2	UTSW	10	79,552,986 (GRCm39)	missense	probably benign	0.29
R6851:Hcn2	UTSW	10	79,564,947 (GRCm39)	critical splice donor site	probably null
R7276:Hcn2	UTSW	10	79,564,934 (GRCm39)	missense	possibly damaging	0.95
R7706:Hcn2	UTSW	10	79,570,017 (GRCm39)	missense	possibly damaging	0.78
R7893:Hcn2	UTSW	10	79,560,245 (GRCm39)	missense	probably damaging	1.00
R8208:Hcn2	UTSW	10	79,566,778 (GRCm39)	missense	possibly damaging	0.94
R8677:Hcn2	UTSW	10	79,560,619 (GRCm39)	missense	probably benign	0.28
R9333:Hcn2	UTSW	10	79,561,991 (GRCm39)	missense	possibly damaging	0.56
R9527:Hcn2	UTSW	10	79,570,706 (GRCm39)	missense	probably benign	0.05
R9594:Hcn2	UTSW	10	79,560,559 (GRCm39)	missense	probably damaging	1.00
R9602:Hcn2	UTSW	10	79,562,128 (GRCm39)	missense	probably benign	0.05
R9604:Hcn2	UTSW	10	79,564,787 (GRCm39)	missense	probably damaging	1.00
X0024:Hcn2	UTSW	10	79,569,954 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07