Mutagenetix > Incidental Mutation

Incidental Mutation 'R5788:Hcn2'

448160

Institutional Source

Beutler Lab

Gene Symbol

Hcn2

Ensembl Gene

ENSMUSG00000020331

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 2

Synonyms

HAC1, trls

MMRRC Submission

043382-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5788 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

79552468-79571942 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79552945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 148 (V148A)

Ref Sequence

ENSEMBL: ENSMUSP00000097113 (fasta)

Gene Model

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

AlphaFold

O88703

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020581
AA Change: V148A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: V148A

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

possibly damaging
Transcript: ENSMUST00000099513
AA Change: V148A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: V148A

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

Meta Mutation Damage Score

0.2249

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

98% (62/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	G	7: 131,045,328 (GRCm39)	Y420C	probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Amfr	T	A	8: 94,726,942 (GRCm39)	R90S	probably damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Atp8a2	T	A	14: 60,258,242 (GRCm39)	D440V	probably damaging	Het
Bahcc1	A	G	11: 120,177,178 (GRCm39)	D2022G	probably damaging	Het
Bicd1	T	C	6: 149,385,498 (GRCm39)	F77S	probably benign	Het
Ccdc66	C	T	14: 27,220,448 (GRCm39)	R255H	probably benign	Het
Ckm	A	G	7: 19,153,372 (GRCm39)	D152G	probably benign	Het
Cpsf7	T	G	19: 10,518,082 (GRCm39)	S431A	possibly damaging	Het
Csmd1	T	C	8: 16,251,980 (GRCm39)	T959A	probably damaging	Het
Dkk4	T	C	8: 23,115,347 (GRCm39)	C66R	probably damaging	Het
Espl1	T	A	15: 102,232,465 (GRCm39)	W2058R	probably damaging	Het
Evi5l	A	T	8: 4,256,800 (GRCm39)		probably benign	Het
Fancg	A	T	4: 43,007,130 (GRCm39)		probably benign	Het
Flg2	A	T	3: 93,108,296 (GRCm39)	H108L	probably benign	Het
Fzd2	A	T	11: 102,496,293 (GRCm39)	T246S	probably benign	Het
Gm10428	T	G	11: 62,644,107 (GRCm39)		probably benign	Het
Gm1988	T	A	7: 38,821,627 (GRCm39)		noncoding transcript	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm7133	A	T	1: 97,171,201 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,717,962 (GRCm39)	N710S	probably benign	Het
Hephl1	A	G	9: 14,995,579 (GRCm39)	L483S	possibly damaging	Het
Hinfp	C	T	9: 44,209,105 (GRCm39)	E338K	possibly damaging	Het
Hsd17b4	G	A	18: 50,306,776 (GRCm39)	D494N	probably damaging	Het
Ipo4	C	T	14: 55,866,277 (GRCm39)	V801M	probably benign	Het
Kcns2	A	C	15: 34,839,000 (GRCm39)	Y121S	probably benign	Het
Kif1c	T	A	11: 70,599,654 (GRCm39)	L462H	probably damaging	Het
Lrrk2	T	G	15: 91,648,851 (GRCm39)	V1615G	possibly damaging	Het
Naca	G	A	10: 127,876,011 (GRCm39)		probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Ndufs2	A	G	1: 171,066,954 (GRCm39)	Y135H	probably damaging	Het
Nwd2	T	C	5: 63,965,114 (GRCm39)	V1566A	probably benign	Het
Or52d13	C	T	7: 103,110,086 (GRCm39)	V110I	possibly damaging	Het
Or52n4b	T	C	7: 108,144,551 (GRCm39)	I271T	probably damaging	Het
Or5t17	A	G	2: 86,832,645 (GRCm39)	T111A	probably benign	Het
Or6c75	A	T	10: 129,336,763 (GRCm39)	L3F	probably benign	Het
Or6c75	A	G	10: 129,336,779 (GRCm39)	M1V	probably null	Het
Pcid2	C	T	8: 13,150,320 (GRCm39)		probably null	Het
Pld4	A	C	12: 112,730,551 (GRCm39)	I145L	probably benign	Het
Pogk	A	T	1: 166,236,580 (GRCm39)		probably benign	Het
Rhbg	C	T	3: 88,152,874 (GRCm39)	V280I	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rxfp3	A	G	15: 11,036,250 (GRCm39)	F374S	possibly damaging	Het
Son	A	G	16: 91,456,940 (GRCm39)		probably benign	Het
Specc1l	G	T	10: 75,112,755 (GRCm39)	R994L	probably damaging	Het
Tas2r135	T	A	6: 42,382,531 (GRCm39)	D23E	probably damaging	Het
Teddm2	A	T	1: 153,726,810 (GRCm39)	H21Q	probably benign	Het
Tet1	T	C	10: 62,675,737 (GRCm39)	T780A	possibly damaging	Het
Thbs1	T	A	2: 117,952,989 (GRCm39)	D866E	probably damaging	Het
Tmed4	A	G	11: 6,221,743 (GRCm39)	W198R	probably damaging	Het
Ttn	A	T	2: 76,749,575 (GRCm39)	C3825S	probably benign	Het
Uchl1	T	A	5: 66,833,754 (GRCm39)		probably benign	Het
Wsb2	A	G	5: 117,515,483 (GRCm39)	T363A	possibly damaging	Het
Zfp266	A	G	9: 20,417,332 (GRCm39)	Y19H	probably damaging	Het
Zkscan17	A	G	11: 59,378,086 (GRCm39)	C366R	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
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
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'- CCATCCATCCCTGTGTGG -3'
(R):5'- GAGGTCACCATCCGGGAC -3'

Sequencing Primer
(F):5'- ATAGTCCGGGCACGACC -3'
(R):5'- CTGAAGTCGCTGTAGGG -3'

Posted On

2016-12-15