Mutagenetix > Incidental Mutation

Incidental Mutation 'R7276:Hcn2'

565593

Institutional Source

Beutler Lab

Gene Symbol

Hcn2

Ensembl Gene

ENSMUSG00000020331

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 2

Synonyms

HAC1, trls

MMRRC Submission

045359-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79552468-79571942 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79564934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 449 (Y449N)

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: Y449N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331
AA Change: Y449N

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: Y449N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331
AA Change: Y449N

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,762,227 (GRCm39)	V26A	unknown	Het
4930546C10Rik	C	T	18: 69,083,093 (GRCm39)	W40*	probably null	Het
Abcc5	T	C	16: 20,195,258 (GRCm39)		probably null	Het
Adamts18	T	A	8: 114,501,896 (GRCm39)	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,774,239 (GRCm39)	N406I	probably benign	Het
Arhgap35	T	G	7: 16,298,493 (GRCm39)	T191P	probably damaging	Het
Atg3	G	A	16: 44,982,805 (GRCm39)	E37K	possibly damaging	Het
Bbs1	A	T	19: 4,947,738 (GRCm39)		probably null	Het
BC048562	A	G	9: 108,322,435 (GRCm39)	N60D	probably damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
C7	A	T	15: 5,041,449 (GRCm39)	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,840,031 (GRCm39)	Q634K	possibly damaging	Het
Cd93	A	T	2: 148,283,660 (GRCm39)	V562E	probably damaging	Het
Cemip2	A	G	19: 21,812,824 (GRCm39)	I1010V	probably benign	Het
Cript	T	A	17: 87,341,696 (GRCm39)	Y50*	probably null	Het
Dnah14	T	A	1: 181,513,372 (GRCm39)	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,984 (GRCm39)	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,728,717 (GRCm39)		probably null	Het
Ffar3	C	G	7: 30,555,273 (GRCm39)	V16L	possibly damaging	Het
Gcn1	C	T	5: 115,749,119 (GRCm39)	R1884W	probably damaging	Het
Gpatch1	T	A	7: 34,996,921 (GRCm39)	M426L	probably benign	Het
Hdac10	T	C	15: 89,012,488 (GRCm39)	T32A	probably benign	Het
Hykk	T	C	9: 54,853,502 (GRCm39)	Y275H	probably damaging	Het
Igfn1	G	C	1: 135,926,376 (GRCm39)	P25A	possibly damaging	Het
Jph1	T	C	1: 17,162,266 (GRCm39)	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,931,450 (GRCm39)	D149E	probably damaging	Het
Knl1	A	T	2: 118,902,167 (GRCm39)	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,347,572 (GRCm39)	S3041L	unknown	Het
Mtrex	A	T	13: 113,050,973 (GRCm39)	Y201N	probably benign	Het
Mtus2	C	T	5: 148,013,368 (GRCm39)	R54C	probably benign	Het
Myo1d	A	T	11: 80,583,898 (GRCm39)	I38N	probably damaging	Het
Nasp	A	G	4: 116,471,546 (GRCm39)	S94P	probably damaging	Het
Nfat5	C	A	8: 108,093,731 (GRCm39)	N657K	probably benign	Het
Ngfr	A	G	11: 95,465,170 (GRCm39)	L226P	probably benign	Het
Nos1	T	C	5: 118,048,303 (GRCm39)	S703P	probably damaging	Het
Nsun7	A	G	5: 66,434,484 (GRCm39)	D275G	probably benign	Het
Oas1d	A	G	5: 121,054,944 (GRCm39)	N172S	possibly damaging	Het
Or11h4	A	G	14: 50,974,187 (GRCm39)	V144A	possibly damaging	Het
Or2y17	T	A	11: 49,231,821 (GRCm39)	M154K	probably benign	Het
Or4c11b	T	A	2: 88,625,025 (GRCm39)	F100I	probably damaging	Het
Or52e8	T	A	7: 104,624,857 (GRCm39)	M116L	possibly damaging	Het
Papss1	A	G	3: 131,324,995 (GRCm39)	E484G	probably benign	Het
Pcdh15	A	G	10: 74,160,224 (GRCm39)	D447G	probably benign	Het
Phkg2	A	G	7: 127,181,558 (GRCm39)	E247G	possibly damaging	Het
Pramel30	A	G	4: 144,059,216 (GRCm39)	E309G	possibly damaging	Het
Prelid2	T	C	18: 42,045,487 (GRCm39)	N141S	possibly damaging	Het
Psg18	T	C	7: 18,079,909 (GRCm39)	M431V	probably damaging	Het
Psmd12	A	T	11: 107,394,471 (GRCm39)	R397*	probably null	Het
Ralgds	G	A	2: 28,435,884 (GRCm39)	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,319,416 (GRCm39)	C945Y	probably benign	Het
Rgs12	A	G	5: 35,183,715 (GRCm39)	D1026G	probably benign	Het
Scn7a	G	A	2: 66,587,506 (GRCm39)	P66S	probably damaging	Het
Supt16	T	C	14: 52,414,458 (GRCm39)	E448G	probably benign	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tas2r114	T	C	6: 131,666,310 (GRCm39)	I239M	probably damaging	Het
Tecpr1	C	T	5: 144,153,838 (GRCm39)	W138*	probably null	Het
Tex101	T	C	7: 24,369,829 (GRCm39)	N45S	probably damaging	Het
Tmx1	C	A	12: 70,512,917 (GRCm39)	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,951,148 (GRCm39)	I1434L	probably damaging	Het
Trappc9	G	T	15: 72,924,119 (GRCm39)	H208N	probably damaging	Het
Trcg1	T	A	9: 57,149,862 (GRCm39)	L478Q	probably damaging	Het
Trim42	G	T	9: 97,251,625 (GRCm39)	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,509,934 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,831,881 (GRCm39)	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,321,645 (GRCm39)	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,340,359 (GRCm39)	D38G	probably damaging	Het
Vsig8	C	A	1: 172,390,850 (GRCm39)	C411*	probably null	Het
Vwce	A	T	19: 10,641,538 (GRCm39)	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782 (GRCm39)	S897G	probably damaging	Het
Zfp111	C	A	7: 23,898,978 (GRCm39)	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,280,624 (GRCm39)	H193N	probably damaging	Het
Zfp811	T	C	17: 33,017,755 (GRCm39)	E95G	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
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'- ACTCGTTCGCGCTCTTCAAG -3'
(R):5'- GAGAACACTCAGAACTGGTCC -3'

Sequencing Primer
(F):5'- GCTCTTCAAGGCCATGAGC -3'
(R):5'- GGTTCTGAACCCGGTGG -3'

Posted On

2019-06-26