Mutagenetix > Incidental Mutation

Incidental Mutation 'R1879:Hcn2'

211409

Institutional Source

Beutler Lab

Gene Symbol

Hcn2

Ensembl Gene

ENSMUSG00000020331

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 2

Synonyms

HAC1, trls

MMRRC Submission

039900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79552468-79571942 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79562023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 340 (I340F)

Ref Sequence

ENSEMBL: ENSMUSP00000097113 (fasta)

Gene Model

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

AlphaFold

O88703

Predicted Effect

probably benign
Transcript: ENSMUST00000020581
AA Change: I340F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: I340F

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 benign
Transcript: ENSMUST00000099513
AA Change: I340F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: I340F

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

1x: 97.3%
3x: 96.6%
10x: 94.9%
20x: 91.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,686,488 (GRCm39)	D268G	possibly damaging	Het
Abce1	T	C	8: 80,414,085 (GRCm39)	N542S	probably benign	Het
Abcf1	T	A	17: 36,272,704 (GRCm39)	E260D	probably benign	Het
Ahcy	A	G	2: 154,906,072 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,260,475 (GRCm39)	A1033V	probably benign	Het
Alkbh6	A	G	7: 30,011,320 (GRCm39)	N46S	probably damaging	Het
Ankrd34c	A	C	9: 89,612,126 (GRCm39)	L72V	probably damaging	Het
Arf4	T	A	14: 26,368,076 (GRCm39)	N25K	probably damaging	Het
Arhgef4	A	G	1: 34,761,521 (GRCm39)	D259G	unknown	Het
Cavin1	C	A	11: 100,861,036 (GRCm39)	G86V	probably damaging	Het
Ces1d	G	A	8: 93,916,126 (GRCm39)	T167I	probably benign	Het
Cfb	T	C	17: 35,079,536 (GRCm39)	I754V	probably benign	Het
Clcnkb	C	T	4: 141,135,130 (GRCm39)	R536H	possibly damaging	Het
Clpb	T	G	7: 101,355,690 (GRCm39)	S181R	probably benign	Het
Col1a1	T	C	11: 94,842,051 (GRCm39)	M1366T	unknown	Het
Cped1	T	A	6: 22,085,014 (GRCm39)		probably null	Het
Crip1	G	A	12: 113,116,952 (GRCm39)	C82Y	probably damaging	Het
Csmd3	T	C	15: 47,520,915 (GRCm39)	T2810A	possibly damaging	Het
Cyp2b9	A	T	7: 25,897,994 (GRCm39)	D266V	probably damaging	Het
Cyp46a1	A	G	12: 108,319,385 (GRCm39)	D294G	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dst	A	G	1: 34,227,924 (GRCm39)	E1514G	probably benign	Het
Dync1h1	A	G	12: 110,591,070 (GRCm39)	E1046G	probably benign	Het
Eya2	T	C	2: 165,506,726 (GRCm39)	V4A	probably benign	Het
Frem3	A	T	8: 81,338,567 (GRCm39)	R287*	probably null	Het
Fuca2	T	A	10: 13,383,000 (GRCm39)	C323S	possibly damaging	Het
Ggt7	T	C	2: 155,356,707 (GRCm39)	E4G	possibly damaging	Het
Gli1	C	T	10: 127,169,606 (GRCm39)	R383H	probably damaging	Het
Gm4559	C	A	7: 141,827,998 (GRCm39)	V35F	unknown	Het
Gpm6a	T	A	8: 55,490,365 (GRCm39)	C14S	probably damaging	Het
Hdac9	T	A	12: 34,440,332 (GRCm39)	D349V	probably damaging	Het
Krt34	T	C	11: 99,929,118 (GRCm39)	D364G	possibly damaging	Het
Mon2	C	T	10: 122,838,790 (GRCm39)	R1565H	probably damaging	Het
Myb	T	A	10: 21,017,876 (GRCm39)	M482L	probably benign	Het
Nckap1l	A	T	15: 103,373,028 (GRCm39)	I294F	probably benign	Het
Nr2e1	A	G	10: 42,444,367 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or1r1	T	A	11: 73,875,368 (GRCm39)	D22V	probably benign	Het
Or4k38	A	T	2: 111,165,808 (GRCm39)	I205N	possibly damaging	Het
Or52h7	T	C	7: 104,214,118 (GRCm39)	V230A	possibly damaging	Het
Pde8b	A	T	13: 95,221,723 (GRCm39)	I308N	possibly damaging	Het
Pdzd2	T	C	15: 12,373,986 (GRCm39)	R2050G	possibly damaging	Het
Phc3	C	A	3: 30,968,607 (GRCm39)	S840I	probably damaging	Het
Piezo2	T	A	18: 63,247,031 (GRCm39)	Y327F	probably damaging	Het
Pnliprp1	A	T	19: 58,732,516 (GRCm39)	I460F	probably benign	Het
Pphln1	T	G	15: 93,321,927 (GRCm39)	D35E	probably damaging	Het
Prdm6	G	A	18: 53,701,289 (GRCm39)	V360I	probably damaging	Het
Rab35	T	A	5: 115,778,219 (GRCm39)	W62R	probably damaging	Het
Sct	G	T	7: 140,858,612 (GRCm39)	P70Q	probably damaging	Het
Sdf4	A	G	4: 156,094,304 (GRCm39)	N328S	probably damaging	Het
Senp5	A	T	16: 31,802,642 (GRCm39)	S488R	probably damaging	Het
Serpina3n	A	G	12: 104,375,213 (GRCm39)	E95G	probably benign	Het
Sfswap	C	T	5: 129,618,392 (GRCm39)	A442V	probably benign	Het
Sgcd	T	C	11: 47,246,068 (GRCm39)	I45V	probably benign	Het
Sgcg	T	C	14: 61,474,346 (GRCm39)		probably null	Het
Slc39a12	G	T	2: 14,448,868 (GRCm39)	V489L	probably benign	Het
Slc5a11	T	A	7: 122,838,671 (GRCm39)	I96N	possibly damaging	Het
Slc6a12	A	G	6: 121,324,382 (GRCm39)	D2G	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Smarcd3	C	A	5: 24,798,019 (GRCm39)	C465F	probably damaging	Het
Smc1b	T	A	15: 84,976,268 (GRCm39)	Q813L	probably benign	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sptan1	A	T	2: 29,885,540 (GRCm39)	N715I	probably damaging	Het
Tas1r2	T	A	4: 139,397,006 (GRCm39)	Y782N	probably damaging	Het
Thap3	A	T	4: 152,067,593 (GRCm39)	C162S	probably benign	Het
Topaz1	T	A	9: 122,578,684 (GRCm39)	D531E	possibly damaging	Het
Vmn1r25	C	T	6: 57,955,912 (GRCm39)	A126T	possibly damaging	Het
Zfhx2	A	G	14: 55,303,074 (GRCm39)	F1637L	probably benign	Het
Zfhx2	T	C	14: 55,310,206 (GRCm39)	Y780C	possibly damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp956	A	T	6: 47,940,678 (GRCm39)	T346S	probably benign	Het
Zkscan1	C	T	5: 138,095,410 (GRCm39)	A219V	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
IGL01339:Hcn2	APN	10	79,564,902 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTTATCCGAACGGGTCATGG -3'
(R):5'- TTTGCTGCCTGTAGAGCAC -3'

Sequencing Primer
(F):5'- CCGAACGGGTCATGGGTGAG -3'
(R):5'- TGTAGAGCACCTTGGGCAGTC -3'

Posted On

2014-06-30