Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Hcn3'

515677

Institutional Source

Beutler Lab

Gene Symbol

Hcn3

Ensembl Gene

ENSMUSG00000028051

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 3

Synonyms

Hac3

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

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

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89054082-89067538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89058240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 339 (A339T)

Ref Sequence

ENSEMBL: ENSMUSP00000029686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482]

AlphaFold

O88705

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029686
AA Change: A339T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: A339T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047111

SMART Domains

Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:PK	85	438	6.9e-165	PFAM
Pfam:PK_C	453	571	3.6e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107482

SMART Domains

Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237

Domain	Start	End	E-Value	Type
Pfam:PK	54	407	3.1e-163	PFAM
Pfam:PK_C	421	541	4.9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133368

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	probably 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
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
R6909:Hcn3	UTSW	3	89,059,936 (GRCm39)	critical splice donor site	probably null
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'- GTTTCACACAGGTAGCTGGGAC -3'
(R):5'- GCAGGTCGAGAATGAGACTC -3'

Sequencing Primer
(F):5'- TCACACAGGTAGCTGGGACAAATG -3'
(R):5'- CAAGCCCTGTTCTGCAACATC -3'

Posted On

2018-05-04