Mutagenetix > Incidental Mutation

Incidental Mutation 'R2279:Hcn3'

242955

Institutional Source

Beutler Lab

Gene Symbol

Hcn3

Ensembl Gene

ENSMUSG00000028051

Gene Name

hyperpolarization-activated, cyclic nucleotide-gated K+ 3

Synonyms

Hac3

MMRRC Submission

040278-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R2279 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89054082-89067538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89055168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 693 (R693L)

Ref Sequence

ENSEMBL: ENSMUSP00000029686 (fasta)

Gene Model

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

AlphaFold

O88705

Predicted Effect

probably benign
Transcript: ENSMUST00000029686
AA Change: R693L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: R693L

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	T	5: 90,412,576 (GRCm39)	N1249K	probably damaging	Het
Anks1b	T	C	10: 89,885,958 (GRCm39)	M218T	probably damaging	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cabin1	T	C	10: 75,589,295 (GRCm39)	I87M	probably benign	Het
Cdc42bpa	A	G	1: 179,864,484 (GRCm39)	N149D	probably damaging	Het
Cdh20	C	A	1: 104,875,139 (GRCm39)	A307E	probably damaging	Het
Cdk18	A	T	1: 132,043,690 (GRCm39)	Y385N	probably damaging	Het
Cfap410	T	C	10: 77,817,476 (GRCm39)	Y68H	probably damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cptp	A	G	4: 155,950,878 (GRCm39)	I196T	probably damaging	Het
Cyp4b1	T	A	4: 115,497,557 (GRCm39)	Y147F	probably benign	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dbr1	G	T	9: 99,462,200 (GRCm39)	Q166H	probably benign	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dpep1	A	T	8: 123,920,883 (GRCm39)	D21V	probably benign	Het
Dspp	G	A	5: 104,326,250 (GRCm39)	S871N	unknown	Het
En1	T	A	1: 120,534,916 (GRCm39)	*402K	probably null	Het
Eogt	G	T	6: 97,111,262 (GRCm39)	R200S	probably benign	Het
Epb41l3	A	G	17: 69,577,645 (GRCm39)	T542A	possibly damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gask1a	T	C	9: 121,794,668 (GRCm39)	I274T	probably benign	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Htra1	A	T	7: 130,563,752 (GRCm39)	I208F	probably damaging	Het
Ifna13	T	A	4: 88,562,156 (GRCm39)	E156V	probably benign	Het
Ints6	A	G	14: 62,942,131 (GRCm39)		probably null	Het
Kifc5b	A	G	17: 27,144,515 (GRCm39)	I545V	probably damaging	Het
Lrrc4c	C	T	2: 97,460,850 (GRCm39)	S492F	possibly damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Map2k6	T	C	11: 110,390,290 (GRCm39)	S275P	probably damaging	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrpl48	G	A	7: 100,214,471 (GRCm39)	T48I	probably damaging	Het
Neu1	A	G	17: 35,153,350 (GRCm39)	D291G	probably damaging	Het
Nktr	A	G	9: 121,560,603 (GRCm39)	K116E	possibly damaging	Het
Npc1	T	C	18: 12,330,236 (GRCm39)		probably null	Het
Or6b9	A	T	7: 106,555,834 (GRCm39)	M103K	probably benign	Het
Or6c1b	A	T	10: 129,273,526 (GRCm39)	M282L	probably benign	Het
Or8k1	T	C	2: 86,047,148 (GRCm39)	E302G	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rnf32	G	T	5: 29,430,278 (GRCm39)	V366F	probably benign	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Sirt7	T	C	11: 120,515,321 (GRCm39)	S112G	probably damaging	Het
Slc1a6	A	T	10: 78,624,882 (GRCm39)	M96L	probably benign	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc30a2	G	T	4: 134,075,857 (GRCm39)	Q210H	probably benign	Het
Sorcs2	A	T	5: 36,199,430 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Sytl3	A	G	17: 6,976,273 (GRCm39)		probably benign	Het
Tasor	A	C	14: 27,164,452 (GRCm39)	K253Q	probably damaging	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Txlna	T	C	4: 129,525,935 (GRCm39)	E304G	probably damaging	Het
Zfp709	T	C	8: 72,642,934 (GRCm39)	V121A	probably benign	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
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
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'- TCACATGTTGGCAGAAATTTGG -3'
(R):5'- ATAGCCTTGACTCACCAGCG -3'

Sequencing Primer
(F):5'- TCCCTGGAGGTTTGGCCAAG -3'
(R):5'- TTGACTCACCAGCGAGGCC -3'

Posted On

2014-10-16