Mutagenetix > Incidental Mutation

Incidental Mutation 'R0671:Hcn2'

61459

Institutional Source

Beutler Lab

Gene Symbol

Hcn2

Ensembl Gene

ENSMUSG00000020331

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 2

Synonyms

HAC1, trls

MMRRC Submission

038856-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0671 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

79716634-79736108 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to C at 79734232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020580] [ENSMUST00000020581] [ENSMUST00000099513] [ENSMUST00000159016] [ENSMUST00000162694]

AlphaFold

O88703

Predicted Effect

probably benign
Transcript: ENSMUST00000020580

SMART Domains

Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	159	168	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
RPOL_N	373	675	1.59e-92	SMART
low complexity region	703	714	N/A	INTRINSIC
Pfam:RNA_pol	802	1207	5.6e-169	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159016

SMART Domains

Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	159	168	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
RPOL_N	373	601	6.27e-50	SMART
low complexity region	629	640	N/A	INTRINSIC
Pfam:RNA_pol	727	1133	7.5e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161098

Predicted Effect

probably benign
Transcript: ENSMUST00000161662

SMART Domains

Protein: ENSMUSP00000124230
Gene: ENSMUSG00000020329

Domain	Start	End	E-Value	Type
Pfam:RNA_pol	29	120	6.7e-39	PFAM
Pfam:RNA_pol	119	393	2.7e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162687

Predicted Effect

probably benign
Transcript: ENSMUST00000162694

SMART Domains

Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	159	168	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
RPOL_N	373	675	1.59e-92	SMART
low complexity region	703	714	N/A	INTRINSIC
Pfam:RNA_pol	801	895	6.4e-34	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

99% (125/126)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,003,008		probably benign	Het
4930430A15Rik	A	C	2: 111,204,137	V350G	possibly damaging	Het
A530064D06Rik	G	A	17: 48,166,656	T31I	probably benign	Het
Abca17	A	G	17: 24,281,249	F1323L	probably benign	Het
Abcf3	T	A	16: 20,550,487	N206K	probably damaging	Het
Adam10	A	G	9: 70,765,941		probably benign	Het
Adamtsl3	A	T	7: 82,523,182	Q451L	probably damaging	Het
Adgrl3	T	A	5: 81,560,905	I413N	probably benign	Het
Asb18	G	T	1: 89,993,171	A128E	probably damaging	Het
Atf7ip2	T	C	16: 10,241,879	S428P	possibly damaging	Het
Atp8b5	G	T	4: 43,291,672	C15F	possibly damaging	Het
Bahcc1	A	G	11: 120,287,320	E2235G	probably damaging	Het
Blnk	G	T	19: 40,937,667	S330*	probably null	Het
Bpnt1	T	G	1: 185,356,611	N319K	probably benign	Het
Brip1	G	A	11: 86,152,667	T357I	possibly damaging	Het
Cadm1	T	A	9: 47,813,806	D288E	probably benign	Het
Calcoco2	A	G	11: 96,107,528	V23A	probably damaging	Het
Cand2	G	A	6: 115,803,805	E1217K	probably damaging	Het
Ccdc154	G	T	17: 25,167,285		probably benign	Het
Cdk12	T	C	11: 98,230,109		probably benign	Het
Clec4a3	A	G	6: 122,954,034		probably null	Het
Cpne2	T	A	8: 94,548,342		probably benign	Het
Cyfip1	T	C	7: 55,923,962		probably null	Het
Cyp26c1	A	G	19: 37,686,561	H110R	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695	Y75H	probably damaging	Het
Defb43	T	A	14: 63,011,838	V10D	probably damaging	Het
Dhx36	G	A	3: 62,493,741	S368L	possibly damaging	Het
Dock6	G	A	9: 21,804,627		probably benign	Het
Elp2	T	C	18: 24,612,442		probably benign	Het
Emilin3	A	G	2: 160,908,329	L453P	probably damaging	Het
Eml6	A	T	11: 29,805,065	D903E	probably benign	Het
Ep300	T	C	15: 81,616,134		probably benign	Het
Ep400	G	A	5: 110,688,196	T1899M	unknown	Het
Fancg	A	G	4: 43,002,998	S620P	probably benign	Het
Fbxo42	G	A	4: 141,195,239	V239M	probably damaging	Het
Fermt2	T	C	14: 45,469,319	D340G	probably benign	Het
Filip1	A	T	9: 79,819,390	V649E	probably damaging	Het
Fut8	G	A	12: 77,475,017	E477K	probably damaging	Het
Gbp3	G	A	3: 142,565,390	G185D	probably benign	Het
Gclc	G	T	9: 77,786,798	D345Y	probably damaging	Het
Gkn2	A	G	6: 87,375,818	D43G	possibly damaging	Het
Gm960	A	G	19: 4,626,188	S639P	probably damaging	Het
Gnptab	A	G	10: 88,443,304		probably benign	Het
Greb1l	C	T	18: 10,474,303	T206I	probably damaging	Het
Grk4	A	G	5: 34,748,267	N452S	probably benign	Het
Hpn	T	C	7: 31,109,160	K76E	possibly damaging	Het
Hspg2	A	G	4: 137,553,280	D3268G	probably damaging	Het
Immt	A	T	6: 71,871,557	Q467L	possibly damaging	Het
Kalrn	T	C	16: 34,116,408	S1636G	probably benign	Het
Kcnh8	T	A	17: 52,978,113	L1037*	probably null	Het
Klhl33	T	C	14: 50,892,394	T548A	probably damaging	Het
Klri2	T	C	6: 129,740,208	I71V	probably benign	Het
Kmt2c	A	T	5: 25,404,365	C254S	probably damaging	Het
Lama3	T	C	18: 12,477,590	I1170T	possibly damaging	Het
Med12l	A	G	3: 59,264,929	Q1702R	probably damaging	Het
Mga	A	T	2: 119,919,910		probably null	Het
Mis18a	A	T	16: 90,720,673	I172K	possibly damaging	Het
Mrgpre	T	C	7: 143,781,517	D83G	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mrpl39	T	C	16: 84,734,394		probably benign	Het
Mrrf	C	T	2: 36,153,698	A149V	probably benign	Het
Mycbp2	A	T	14: 103,194,588	M2338K	possibly damaging	Het
Myo18b	T	C	5: 112,692,766	Q2387R	probably benign	Het
N4bp2	T	C	5: 65,807,437	I943T	probably damaging	Het
Ncapd3	T	A	9: 27,087,477	N1254K	probably benign	Het
Ncoa1	A	T	12: 4,249,758		probably null	Het
Ncor2	C	T	5: 125,049,387	A136T	probably benign	Het
Olfr311	T	A	11: 58,841,855	I247N	possibly damaging	Het
Olfr483	C	A	7: 108,104,156	Y282*	probably null	Het
Olfr539	A	G	7: 140,667,677	D123G	probably damaging	Het
Olfr887	T	A	9: 38,085,127	M97K	possibly damaging	Het
Opa1	T	C	16: 29,602,207		probably benign	Het
Pcdhb4	T	C	18: 37,307,742	M35T	probably benign	Het
Per3	T	C	4: 151,028,831	I347V	probably benign	Het
Pex13	G	A	11: 23,665,831	P5L	possibly damaging	Het
Phkb	T	A	8: 85,875,693	W38R	probably damaging	Het
Plekhf1	A	T	7: 38,221,402	D247E	probably benign	Het
Plxnb2	A	G	15: 89,157,981	S1607P	probably benign	Het
Plxnc1	T	A	10: 94,799,332	H1344L	possibly damaging	Het
Ptk7	T	G	17: 46,590,312	N196H	possibly damaging	Het
Rab27a	G	T	9: 73,075,433	D7Y	probably damaging	Het
Rars2	T	A	4: 34,630,505	C82*	probably null	Het
Rccd1	A	T	7: 80,320,217		probably benign	Het
Riiad1	T	C	3: 94,472,239	I56V	possibly damaging	Het
Rnase4	A	G	14: 51,105,050	E77G	probably damaging	Het
Rnf126	A	T	10: 79,761,607	I157N	possibly damaging	Het
Rnf207	T	C	4: 152,307,468	R623G	probably benign	Het
Rpusd1	T	G	17: 25,728,524	F62V	possibly damaging	Het
Rxfp1	T	C	3: 79,663,293		probably null	Het
Scfd1	A	T	12: 51,412,628	Q324L	probably benign	Het
Skint3	G	T	4: 112,255,777	E195*	probably null	Het
Slc7a10	A	T	7: 35,197,333	T165S	probably benign	Het
Smagp	A	G	15: 100,621,852	I97T	probably damaging	Het
Sostdc1	A	G	12: 36,317,341	H172R	probably damaging	Het
Spast	A	G	17: 74,339,451		probably benign	Het
Sspo	G	T	6: 48,490,391		probably benign	Het
Ston2	C	T	12: 91,740,466		probably null	Het
Tas2r103	T	G	6: 133,036,350	E251A	probably benign	Het
Tbc1d2b	A	T	9: 90,222,505		probably benign	Het
Telo2	G	A	17: 25,113,165	P143L	probably benign	Het
Tgfbi	A	T	13: 56,638,726	Y674F	probably null	Het
Tha1	T	A	11: 117,873,157		probably benign	Het
Timp4	T	A	6: 115,249,853	S110C	probably damaging	Het
Tlr6	T	C	5: 64,954,592	K324R	probably benign	Het
Tnip3	A	G	6: 65,597,363	E137G	probably damaging	Het
Trak1	T	C	9: 121,448,955		probably null	Het
Trim47	A	G	11: 116,108,352	S233P	probably benign	Het
Tspoap1	A	T	11: 87,762,809	E155V	probably damaging	Het
Tsta3	A	G	15: 75,928,958	V27A	possibly damaging	Het
Uggt1	A	T	1: 36,155,128	L1343Q	probably damaging	Het
Utp14b	T	C	1: 78,664,735	S117P	probably benign	Het
Vmn1r124	A	T	7: 21,260,511	V36D	probably damaging	Het
Wdr27	T	C	17: 14,928,396	T112A	probably benign	Het
Wdr90	T	C	17: 25,846,393	T1630A	probably benign	Het
Zfp352	A	G	4: 90,223,919	T99A	probably benign	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
IGL02183:Hcn2	APN	10	79724813	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATAGTTTGGCTGCTGAGGCACCAC -3'
(R):5'- TATTGAGCCTGAGCCGTTCTCACC -3'

Sequencing Primer
(F):5'- ACCACCCTTGTTTTCACAGAG -3'
(R):5'- CACCAGGCCCTGTGATTC -3'

Posted On

2013-07-30