Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Hcn2'

661460

Institutional Source

Beutler Lab

Gene Symbol

Hcn2

Ensembl Gene

ENSMUSG00000020331

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 2

Synonyms

HAC1, trls

MMRRC Submission

068532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79552468-79571942 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79560619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 317 (I317V)

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: I317V

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: I317V

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: I317V

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: I317V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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
Acd	A	C	8: 106,427,576 (GRCm39)	S25R	probably damaging	Het
Acly	A	T	11: 100,410,569 (GRCm39)	H136Q	probably damaging	Het
Adrm1	C	T	2: 179,813,832 (GRCm39)	T2M	probably benign	Het
Ankrd12	A	T	17: 66,331,209 (GRCm39)	L246M	probably damaging	Het
Bltp2	C	T	11: 78,174,982 (GRCm39)	R1706C	probably damaging	Het
Cacnb3	T	C	15: 98,539,931 (GRCm39)	L258P	probably damaging	Het
Cd36	C	T	5: 18,025,493 (GRCm39)	V76M	probably damaging	Het
Cep120	A	G	18: 53,871,633 (GRCm39)	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,267,519 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,640,240 (GRCm39)	T1042A	probably benign	Het
Comp	A	T	8: 70,832,910 (GRCm39)	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272 (GRCm39)	L653P	probably benign	Het
Cx3cl1	G	T	8: 95,506,443 (GRCm39)	R149S	probably benign	Het
Dbndd2	T	A	2: 164,330,522 (GRCm39)	N58K	probably damaging	Het
Dclk1	A	G	3: 55,409,840 (GRCm39)	I595V	probably damaging	Het
Dhx15	T	C	5: 52,341,886 (GRCm39)	D144G	probably benign	Het
Dlat	T	C	9: 50,570,007 (GRCm39)	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,221,352 (GRCm39)	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,511,176 (GRCm39)	V778D	probably benign	Het
Grn	T	C	11: 102,324,393 (GRCm39)	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,267,757 (GRCm39)	F169L	possibly damaging	Het
Heca	T	C	10: 17,791,424 (GRCm39)	N211D	probably benign	Het
Htr1f	T	C	16: 64,746,414 (GRCm39)	T293A	possibly damaging	Het
Ifitm10	T	A	7: 141,909,749 (GRCm39)	I116F	probably benign	Het
Itprid1	A	G	6: 55,849,579 (GRCm39)	H37R	probably benign	Het
Ivl	A	T	3: 92,479,986 (GRCm39)	D26E	probably benign	Het
Kcnma1	T	A	14: 23,436,418 (GRCm39)	E761V	probably benign	Het
Ltbp1	G	T	17: 75,655,753 (GRCm39)	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,799,805 (GRCm39)	F32L	probably benign	Het
Micu2	T	C	14: 58,161,420 (GRCm39)	R301G	possibly damaging	Het
Miip	C	T	4: 147,947,503 (GRCm39)	C219Y	probably damaging	Het
Mn1	T	A	5: 111,566,885 (GRCm39)	L285*	probably null	Het
Mthfd1l	T	A	10: 3,998,250 (GRCm39)	N664K	possibly damaging	Het
Mttp	A	T	3: 137,810,437 (GRCm39)	H659Q	probably benign	Het
Myadml2	G	A	11: 120,538,815 (GRCm39)	P7S	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,075,644 (GRCm39)	T645I	probably damaging	Het
Notch1	C	T	2: 26,359,936 (GRCm39)	V1260I	probably damaging	Het
Numa1	T	C	7: 101,650,148 (GRCm39)	L1293P	probably damaging	Het
Or1a1	A	T	11: 74,086,415 (GRCm39)	I29F	probably benign	Het
Or56a4	A	G	7: 104,806,775 (GRCm39)	L38P	probably benign	Het
Pcdh12	G	T	18: 38,415,191 (GRCm39)	H645N	probably benign	Het
Pdcd1	A	T	1: 93,968,952 (GRCm39)	L122H	probably damaging	Het
Pknox2	G	A	9: 36,821,887 (GRCm39)	P246L	probably damaging	Het
Polr2a	A	T	11: 69,626,381 (GRCm39)	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Proser1	A	G	3: 53,385,122 (GRCm39)	T335A	probably benign	Het
Ptprc	A	G	1: 138,011,335 (GRCm39)	I598T	probably damaging	Het
Rasal3	T	C	17: 32,615,828 (GRCm39)	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,819,055 (GRCm39)	T415S	probably benign	Het
Rbm7	T	A	9: 48,401,273 (GRCm39)	R152*	probably null	Het
Sanbr	T	C	11: 23,545,471 (GRCm39)	D474G	probably benign	Het
Sf3b2	C	T	19: 5,336,257 (GRCm39)	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,364,035 (GRCm39)	S214P	probably benign	Het
Spam1	A	G	6: 24,796,984 (GRCm39)	T312A	probably benign	Het
Ssh2	A	G	11: 77,346,019 (GRCm39)	T1335A	possibly damaging	Het
Tef	T	A	15: 81,699,169 (GRCm39)	L59Q	probably damaging	Het
Tmem131l	A	C	3: 83,836,009 (GRCm39)	V700G	probably damaging	Het
Twsg1	A	G	17: 66,233,402 (GRCm39)	S183P	probably damaging	Het
Unc13c	T	C	9: 73,840,243 (GRCm39)	T203A	probably benign	Het
Uqcc6	G	T	10: 82,456,050 (GRCm39)	T37K	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,410 (GRCm39)	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,346,978 (GRCm39)	N3073I	probably damaging	Het
Zfp114	A	G	7: 23,880,070 (GRCm39)	N140D	probably benign	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
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
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'- AGGACAACACGGAGATCATC -3'
(R):5'- CTGCCCTGTCCACAATCAAG -3'

Sequencing Primer
(F):5'- GATCATCCTGGACCCCGAGAAG -3'
(R):5'- TGTCCACAATCAAGGCCCC -3'

Posted On

2021-03-08