Mutagenetix > Incidental Mutation

Incidental Mutation 'R6457:Hcn2'

516535

Institutional Source

Beutler Lab

Gene Symbol

Hcn2

Ensembl Gene

ENSMUSG00000020331

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 2

Synonyms

HAC1, trls

MMRRC Submission

044592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79552468-79571942 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 79569607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 536 (E536*)

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
AA Change: E536*

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: E536*

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
AA Change: E536*

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: E536*

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: ENSMUST00000161765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162679

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160838

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,383 (GRCm39)	V524E	probably damaging	Het
Acer2	T	A	4: 86,818,808 (GRCm39)	M152K	probably damaging	Het
Actn3	T	C	19: 4,921,876 (GRCm39)	D130G	probably damaging	Het
Ank1	T	A	8: 23,577,983 (GRCm39)	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,282,670 (GRCm39)	A326T	probably benign	Het
Ankrd11	G	A	8: 123,635,503 (GRCm39)	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,217 (GRCm39)		probably benign	Het
Aurkb	G	A	11: 68,939,172 (GRCm39)	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,359,069 (GRCm39)	T9I	possibly damaging	Het
Card14	C	T	11: 119,230,428 (GRCm39)	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,745 (GRCm39)	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,552,973 (GRCm39)	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,855,198 (GRCm39)	L361P	probably damaging	Het
Cox18	A	G	5: 90,371,548 (GRCm39)	I84T	probably benign	Het
Dhrs3	T	C	4: 144,646,522 (GRCm39)	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,317,765 (GRCm39)	H149R	probably benign	Het
Flg2	T	A	3: 93,127,789 (GRCm39)	S2234T	unknown	Het
Gtf2e1	A	C	16: 37,356,698 (GRCm39)		probably null	Het
H2-Q7	A	T	17: 35,658,655 (GRCm39)	S98C	probably damaging	Het
Kat6b	A	T	14: 21,720,748 (GRCm39)	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,248,192 (GRCm39)	V35I	probably benign	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Ly9	A	G	1: 171,416,663 (GRCm39)	S644P	probably damaging	Het
Magi1	A	T	6: 93,676,620 (GRCm39)	V685E	probably damaging	Het
Malrd1	A	G	2: 15,531,408 (GRCm39)		probably benign	Het
Malrd1	A	T	2: 15,672,740 (GRCm39)	H599L	probably benign	Het
Matn2	T	A	15: 34,426,380 (GRCm39)	C631S	probably damaging	Het
Megf8	A	T	7: 25,049,120 (GRCm39)	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,300,277 (GRCm39)	R98Q	probably benign	Het
Mprip	T	A	11: 59,649,815 (GRCm39)	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,275,016 (GRCm39)	D439G	probably damaging	Het
Mroh5	A	T	15: 73,662,691 (GRCm39)	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,256,646 (GRCm39)	I84L	probably benign	Het
Myt1	G	A	2: 181,405,218 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,907,990 (GRCm39)	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,292,633 (GRCm39)	I1095K	probably benign	Het
Nolc1	A	G	19: 46,071,509 (GRCm39)		probably benign	Het
Nr5a2	A	G	1: 136,887,976 (GRCm39)	L18P	probably benign	Het
Nup188	G	T	2: 30,212,199 (GRCm39)	C562F	probably damaging	Het
Obscn	A	G	11: 58,971,597 (GRCm39)	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,263,879 (GRCm39)		probably null	Het
Pias3	A	G	3: 96,606,839 (GRCm39)	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,729,361 (GRCm39)	V903A	probably damaging	Het
Pramel1	T	A	4: 143,123,275 (GRCm39)	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,339,782 (GRCm39)	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,743,896 (GRCm39)	Y120H	probably damaging	Het
Prss28	A	G	17: 25,530,331 (GRCm39)	M212V	probably benign	Het
Rbp3	G	T	14: 33,677,224 (GRCm39)	G391*	probably null	Het
Rc3h2	C	T	2: 37,301,151 (GRCm39)		probably null	Het
Ret	A	G	6: 118,150,582 (GRCm39)	F645L	probably benign	Het
Saxo5	T	C	8: 3,529,268 (GRCm39)	L251P	probably damaging	Het
Sgsm2	A	G	11: 74,755,995 (GRCm39)	S402P	possibly damaging	Het
Shc3	T	A	13: 51,636,915 (GRCm39)		probably null	Het
Slc25a16	A	G	10: 62,776,938 (GRCm39)	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694 (GRCm39)	H26Q	probably benign	Het
Thsd1	A	G	8: 22,733,363 (GRCm39)	T137A	probably damaging	Het
Tnik	A	T	3: 28,593,597 (GRCm39)	H151L	probably damaging	Het
Tns1	T	A	1: 73,957,209 (GRCm39)	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,048,161 (GRCm39)	T147S	probably damaging	Het
Tomm6	G	T	17: 47,998,932 (GRCm39)		probably benign	Het
Trp53	G	A	11: 69,480,440 (GRCm39)	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,649,214 (GRCm39)	V1492E	probably benign	Het
Tsen2	G	A	6: 115,536,592 (GRCm39)	R116H	probably benign	Het
Uvrag	A	G	7: 98,555,726 (GRCm39)	F456S	probably damaging	Het
Vmn1r86	A	T	7: 12,836,279 (GRCm39)	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,317,378 (GRCm39)	C120Y	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
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
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'- AAAGTTCATCTGGTCCTGCC -3'
(R):5'- ATCCAGATCTCAGCCTTGCC -3'

Sequencing Primer
(F):5'- TGAGGGTTCACCAAGTAGCC -3'
(R):5'- AGATCTCAGCCTTGCCACAGG -3'

Posted On

2018-05-21