Mutagenetix > Incidental Mutation

Incidental Mutation 'R6909:Hcn3'

538909

Institutional Source

Beutler Lab

Gene Symbol

Hcn3

Ensembl Gene

ENSMUSG00000028051

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 3

Synonyms

Hac3

MMRRC Submission

045001-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R6909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89054082-89067538 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 89059936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029686]

AlphaFold

O88705

Predicted Effect

probably null
Transcript: ENSMUST00000029686

SMART Domains

Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
Pfam:Ion_trans_N	48	91	1.3e-22	PFAM
Pfam:Ion_trans	92	357	3.7e-25	PFAM
low complexity region	358	369	N/A	INTRINSIC
Blast:cNMP	370	402	7e-14	BLAST
cNMP	427	540	2.32e-20	SMART
Blast:cNMP	548	588	2e-17	BLAST
low complexity region	636	656	N/A	INTRINSIC
low complexity region	698	717	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,006,323 (GRCm39)	Q1261K	probably benign	Het
Acp3	T	C	9: 104,178,164 (GRCm39)	Y329C	probably damaging	Het
Agrn	G	T	4: 156,261,464 (GRCm39)	H585N	possibly damaging	Het
Ano1	G	A	7: 144,209,468 (GRCm39)	T211M	probably damaging	Het
Atic	T	G	1: 71,616,005 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,957,781 (GRCm39)	S229R	probably damaging	Het
Ccdc168	C	T	1: 44,098,935 (GRCm39)	R721Q	possibly damaging	Het
Cfap210	A	T	2: 69,612,192 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,425,815 (GRCm39)	Y418C	probably damaging	Het
Cibar1	T	C	4: 12,168,309 (GRCm39)	T97A	probably benign	Het
Cmya5	T	C	13: 93,227,760 (GRCm39)	T2443A	probably benign	Het
Dysf	A	T	6: 84,169,920 (GRCm39)	E1772V	probably damaging	Het
Eps8l1	T	A	7: 4,472,899 (GRCm39)	L107*	probably null	Het
Fpr3	T	A	17: 18,191,429 (GRCm39)	F233L	probably benign	Het
Gjc2	A	T	11: 59,067,918 (GRCm39)	V188E	unknown	Het
Gm45861	T	A	8: 28,017,109 (GRCm39)	Y690N	unknown	Het
Gsdma2	T	A	11: 98,543,383 (GRCm39)	C224*	probably null	Het
Gucy2d	T	A	7: 98,116,832 (GRCm39)	Y881N	probably damaging	Het
Hectd1	G	T	12: 51,810,945 (GRCm39)		probably null	Het
Ifitm5	A	G	7: 140,529,172 (GRCm39)	F146L	probably benign	Het
Impg2	T	C	16: 56,024,947 (GRCm39)	F18S	probably damaging	Het
Ino80c	T	A	18: 24,241,812 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,569,915 (GRCm39)	H1109R	probably benign	Het
Kdm3b	T	A	18: 34,960,381 (GRCm39)		probably null	Het
Klra8	T	G	6: 130,102,123 (GRCm39)	N104T	probably benign	Het
Llgl2	G	A	11: 115,741,625 (GRCm39)	C585Y	probably damaging	Het
Lmod2	T	A	6: 24,604,157 (GRCm39)	D377E	probably benign	Het
Lrat	G	A	3: 82,810,961 (GRCm39)	S20F	probably damaging	Het
Lrrc43	T	A	5: 123,638,482 (GRCm39)	H363Q	probably benign	Het
Lyst	T	G	13: 13,917,960 (GRCm39)	I3340S	probably damaging	Het
Magi1	C	A	6: 93,674,301 (GRCm39)	G948W	probably damaging	Het
Map3k4	A	C	17: 12,489,872 (GRCm39)	F520V	probably damaging	Het
Mcm4	A	T	16: 15,446,561 (GRCm39)	N607K	probably damaging	Het
Mta3	T	C	17: 84,073,980 (GRCm39)	V216A	possibly damaging	Het
Ncor1	C	A	11: 62,220,312 (GRCm39)	G2131V	probably damaging	Het
Or10ag2	A	G	2: 87,248,959 (GRCm39)	H189R	probably damaging	Het
Or2z9	T	A	8: 72,854,372 (GRCm39)	V256E	possibly damaging	Het
Or5d16	A	G	2: 87,773,034 (GRCm39)	S313P	probably benign	Het
Or9k7	T	A	10: 130,046,622 (GRCm39)	I126L	probably benign	Het
Pramel12	T	C	4: 143,144,479 (GRCm39)	L275P	probably damaging	Het
Ptpn2	A	T	18: 67,809,041 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,856 (GRCm39)	I1671T	probably damaging	Het
Scyl2	A	T	10: 89,481,604 (GRCm39)	S622T	probably benign	Het
Sim1	C	T	10: 50,785,506 (GRCm39)	R192C	possibly damaging	Het
Skor2	A	G	18: 76,948,252 (GRCm39)	H658R	possibly damaging	Het
Slc10a5	A	G	3: 10,400,655 (GRCm39)	S2P	possibly damaging	Het
Slc37a4	A	T	9: 44,311,331 (GRCm39)	K207N	possibly damaging	Het
Syne2	G	T	12: 76,110,969 (GRCm39)	V5768L	probably benign	Het
Tdpoz3	T	A	3: 93,733,772 (GRCm39)	V149E	probably damaging	Het
Tekt5	T	C	16: 10,176,165 (GRCm39)	N460S	probably damaging	Het
Tk2	G	T	8: 104,963,442 (GRCm39)	Y142*	probably null	Het
Tkfc	T	A	19: 10,573,630 (GRCm39)	Q236L	probably benign	Het
Tln2	G	A	9: 67,299,814 (GRCm39)	T148I	probably damaging	Het
Trim62	A	G	4: 128,778,021 (GRCm39)	D20G	probably damaging	Het
Tspan14	A	C	14: 40,635,398 (GRCm39)	V166G	probably benign	Het
Ttn	A	T	2: 76,712,065 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn2r117	C	G	17: 23,698,479 (GRCm39)	Q31H	possibly damaging	Het
Zfp87	T	C	13: 74,519,861 (GRCm39)	T406A	possibly damaging	Het

Other mutations in Hcn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Hcn3	APN	3	89,055,030 (GRCm39)	missense	probably damaging	0.98
IGL02285:Hcn3	APN	3	89,060,119 (GRCm39)	missense	probably damaging	1.00
IGL02557:Hcn3	APN	3	89,057,178 (GRCm39)	missense	probably damaging	1.00
R0027:Hcn3	UTSW	3	89,067,132 (GRCm39)	missense	probably damaging	0.99
R0189:Hcn3	UTSW	3	89,056,107 (GRCm39)	missense	probably damaging	0.98
R0442:Hcn3	UTSW	3	89,058,847 (GRCm39)	missense	probably damaging	0.97
R0454:Hcn3	UTSW	3	89,060,201 (GRCm39)	missense	probably damaging	0.98
R0732:Hcn3	UTSW	3	89,056,093 (GRCm39)	missense	probably damaging	1.00
R1732:Hcn3	UTSW	3	89,055,426 (GRCm39)	missense	probably damaging	0.97
R1900:Hcn3	UTSW	3	89,055,570 (GRCm39)	missense	probably benign	0.00
R2277:Hcn3	UTSW	3	89,055,168 (GRCm39)	missense	probably benign	0.02
R2279:Hcn3	UTSW	3	89,055,168 (GRCm39)	missense	probably benign	0.02
R2331:Hcn3	UTSW	3	89,055,397 (GRCm39)	missense	probably benign	0.01
R2916:Hcn3	UTSW	3	89,054,920 (GRCm39)	missense	probably benign
R2918:Hcn3	UTSW	3	89,054,920 (GRCm39)	missense	probably benign
R4604:Hcn3	UTSW	3	89,057,747 (GRCm39)	missense	probably damaging	1.00
R4749:Hcn3	UTSW	3	89,057,370 (GRCm39)	splice site	probably null
R5095:Hcn3	UTSW	3	89,057,230 (GRCm39)	missense	probably damaging	0.99
R5776:Hcn3	UTSW	3	89,055,412 (GRCm39)	missense	probably benign	0.03
R5984:Hcn3	UTSW	3	89,055,570 (GRCm39)	missense	probably benign	0.00
R6389:Hcn3	UTSW	3	89,058,240 (GRCm39)	missense	possibly damaging	0.70
R6736:Hcn3	UTSW	3	89,059,981 (GRCm39)	missense	probably damaging	1.00
R6860:Hcn3	UTSW	3	89,067,152 (GRCm39)	missense	possibly damaging	0.73
R7549:Hcn3	UTSW	3	89,057,307 (GRCm39)	missense	probably null	0.51
R9090:Hcn3	UTSW	3	89,057,267 (GRCm39)	missense	probably damaging	0.99
R9271:Hcn3	UTSW	3	89,057,267 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGTGTTTGCCATAGCTCTGTAC -3'
(R):5'- CACCTGGTTCCTGGTTGATCTG -3'

Sequencing Primer
(F):5'- GCCATAGCTCTGTACCCCAC -3'
(R):5'- GGTTCCTGGTTGATCTGATCTCC -3'

Posted On

2018-11-06