Mutagenetix > Incidental Mutation

Incidental Mutation 'R2216:Scn5a'

241165

Institutional Source

Beutler Lab

Gene Symbol

Scn5a

Ensembl Gene

ENSMUSG00000032511

Gene Name

sodium channel, voltage-gated, type V, alpha

Synonyms

Nav1.5c, Nav1.5, mH1, SkM2

MMRRC Submission

040218-MU

Accession Numbers

Ncbi RefSeq: NM_021544.4, NM_001253860.1; MGI:98251

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119483408-119579016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119485612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 2010 (P2010Q)

Ref Sequence

ENSEMBL: ENSMUSP00000066228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065196] [ENSMUST00000117911] [ENSMUST00000120420]

AlphaFold

Q9JJV9

Predicted Effect

probably benign
Transcript: ENSMUST00000065196
AA Change: P2010Q

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066228
Gene: ENSMUSG00000032511
AA Change: P2010Q

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	130	423	2.4e-82	PFAM
Pfam:Na_trans_cytopl	478	667	5.2e-49	PFAM
Pfam:Ion_trans	716	950	1.1e-54	PFAM
Pfam:Na_trans_assoc	955	1203	2.9e-57	PFAM
Pfam:Ion_trans	1207	1484	2e-66	PFAM
Pfam:Ion_trans	1530	1786	7.2e-55	PFAM
Pfam:PKD_channel	1627	1780	3.5e-7	PFAM
IQ	1903	1925	5e-2	SMART
low complexity region	1961	1983	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117911
AA Change: P2010Q

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112838
Gene: ENSMUSG00000032511
AA Change: P2010Q

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	159	412	9.6e-76	PFAM
coiled coil region	413	451	N/A	INTRINSIC
Pfam:DUF3451	461	668	4.9e-44	PFAM
Pfam:Ion_trans	751	940	2.3e-46	PFAM
Pfam:Na_trans_assoc	955	1218	1.2e-73	PFAM
Pfam:Ion_trans	1244	1472	2e-56	PFAM
PDB:1BYY\|A	1474	1526	5e-29	PDB
Pfam:Ion_trans	1565	1774	1.5e-49	PFAM
Pfam:PKD_channel	1627	1781	2.6e-10	PFAM
IQ	1903	1925	5e-2	SMART
low complexity region	1961	1983	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120420
AA Change: P2009Q

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113272
Gene: ENSMUSG00000032511
AA Change: P2009Q

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	159	412	4.5e-75	PFAM
coiled coil region	413	451	N/A	INTRINSIC
Pfam:DUF3451	461	668	7.4e-43	PFAM
Pfam:Ion_trans	751	940	1.2e-45	PFAM
Pfam:Na_trans_assoc	955	1217	1.6e-72	PFAM
Pfam:Ion_trans	1243	1471	1.1e-55	PFAM
PDB:1BYY\|A	1473	1525	5e-29	PDB
Pfam:Ion_trans	1564	1773	8.2e-49	PFAM
Pfam:PKD_channel	1626	1780	2.6e-9	PFAM
IQ	1902	1924	5e-2	SMART
low complexity region	1960	1982	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

Strain: 2179753; 3765977
Lethality: E10-E12
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene die prenatally usually during organogenesis and may display decreased embryo size and abnormal cardiovascular system physiology. Heterozygous mice typically display abnormal heartbeats and defects in the function of the impulse conduction system. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted(9) Gene trapped(2)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446 (GRCm38)	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351 (GRCm38)	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590 (GRCm38)	N277S	probably null	Het
Cd22	G	T	7: 30,867,046 (GRCm38)	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678 (GRCm38)	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430 (GRCm38)	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495 (GRCm38)	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981 (GRCm38)	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339 (GRCm38)		probably null	Het
Cyp1a1	T	A	9: 57,702,069 (GRCm38)		probably null	Het
Dennd1c	C	T	17: 57,074,492 (GRCm38)		probably null	Het
Dmxl1	G	A	18: 49,893,923 (GRCm38)	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565 (GRCm38)	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245 (GRCm38)		probably null	Het
Gcn1l1	T	A	5: 115,593,661 (GRCm38)	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060 (GRCm38)	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894 (GRCm38)	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517 (GRCm38)	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029 (GRCm38)	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866 (GRCm38)	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586 (GRCm38)	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065 (GRCm38)	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055 (GRCm38)	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500 (GRCm38)		probably null	Het
Myh15	C	G	16: 49,165,838 (GRCm38)	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771 (GRCm38)	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215 (GRCm38)	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918 (GRCm38)	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612 (GRCm38)	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998 (GRCm38)	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205 (GRCm38)	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077 (GRCm38)	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895 (GRCm38)	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284 (GRCm38)	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946 (GRCm38)	M1K	probably null	Het
Prss52	T	C	14: 64,113,593 (GRCm38)	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125 (GRCm38)	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005 (GRCm38)	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279 (GRCm38)	L190P	probably damaging	Het
Slc4a9	A	G	18: 36,530,745 (GRCm38)	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335 (GRCm38)	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842 (GRCm38)	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708 (GRCm38)	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268 (GRCm38)	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564 (GRCm38)	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983 (GRCm38)	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306 (GRCm38)	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168 (GRCm38)	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840 (GRCm38)	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679 (GRCm38)	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220 (GRCm38)	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403 (GRCm38)	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716 (GRCm38)	Q150H	possibly damaging	Het

Other mutations in Scn5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Scn5a	APN	9	119,486,224 (GRCm38)	missense	probably damaging	1.00
IGL00480:Scn5a	APN	9	119,517,538 (GRCm38)	missense	possibly damaging	0.73
IGL00542:Scn5a	APN	9	119,492,126 (GRCm38)	missense	probably damaging	1.00
IGL00852:Scn5a	APN	9	119,537,682 (GRCm38)	missense	probably benign	0.26
IGL00895:Scn5a	APN	9	119,513,104 (GRCm38)	splice site	probably null
IGL00905:Scn5a	APN	9	119,536,501 (GRCm38)	missense	probably damaging	1.00
IGL01347:Scn5a	APN	9	119,562,441 (GRCm38)	nonsense	probably null
IGL01396:Scn5a	APN	9	119,534,704 (GRCm38)	missense	probably damaging	0.98
IGL01402:Scn5a	APN	9	119,486,470 (GRCm38)	missense	probably damaging	1.00
IGL01404:Scn5a	APN	9	119,486,470 (GRCm38)	missense	probably damaging	1.00
IGL01487:Scn5a	APN	9	119,562,623 (GRCm38)	start codon destroyed	probably null	0.90
IGL01612:Scn5a	APN	9	119,486,025 (GRCm38)	missense	possibly damaging	0.86
IGL02134:Scn5a	APN	9	119,485,892 (GRCm38)	missense	probably damaging	0.98
IGL02434:Scn5a	APN	9	119,533,793 (GRCm38)	missense	possibly damaging	0.83
IGL02698:Scn5a	APN	9	119,521,097 (GRCm38)	missense	probably damaging	1.00
IGL02717:Scn5a	APN	9	119,529,010 (GRCm38)	missense	probably benign	0.12
IGL02746:Scn5a	APN	9	119,550,637 (GRCm38)	missense	probably damaging	1.00
IGL02951:Scn5a	APN	9	119,495,685 (GRCm38)	missense	probably damaging	1.00
IGL03155:Scn5a	APN	9	119,512,182 (GRCm38)	missense	possibly damaging	0.74
IGL03188:Scn5a	APN	9	119,522,566 (GRCm38)	missense	probably damaging	1.00
IGL03268:Scn5a	APN	9	119,521,231 (GRCm38)	missense	probably damaging	1.00
IGL03287:Scn5a	APN	9	119,489,778 (GRCm38)	missense	probably damaging	1.00
IGL03328:Scn5a	APN	9	119,537,636 (GRCm38)	missense	probably benign	0.12
PIT4142001:Scn5a	UTSW	9	119,486,258 (GRCm38)	missense	probably damaging	1.00
PIT4520001:Scn5a	UTSW	9	119,534,570 (GRCm38)	missense	possibly damaging	0.56
R0026:Scn5a	UTSW	9	119,522,566 (GRCm38)	missense	probably damaging	1.00
R0044:Scn5a	UTSW	9	119,492,047 (GRCm38)	critical splice donor site	probably null
R0044:Scn5a	UTSW	9	119,492,047 (GRCm38)	critical splice donor site	probably null
R0267:Scn5a	UTSW	9	119,543,135 (GRCm38)	missense	probably damaging	0.98
R0313:Scn5a	UTSW	9	119,534,571 (GRCm38)	missense	probably damaging	1.00
R0360:Scn5a	UTSW	9	119,522,599 (GRCm38)	missense	probably damaging	0.99
R0364:Scn5a	UTSW	9	119,522,599 (GRCm38)	missense	probably damaging	0.99
R0369:Scn5a	UTSW	9	119,533,772 (GRCm38)	missense	probably damaging	0.99
R0512:Scn5a	UTSW	9	119,550,658 (GRCm38)	missense	probably damaging	1.00
R0681:Scn5a	UTSW	9	119,539,640 (GRCm38)	missense	probably damaging	0.96
R1163:Scn5a	UTSW	9	119,533,927 (GRCm38)	missense	probably damaging	1.00
R1469:Scn5a	UTSW	9	119,533,661 (GRCm38)	critical splice donor site	probably null
R1469:Scn5a	UTSW	9	119,533,661 (GRCm38)	critical splice donor site	probably null
R1470:Scn5a	UTSW	9	119,536,475 (GRCm38)	missense	possibly damaging	0.82
R1470:Scn5a	UTSW	9	119,536,475 (GRCm38)	missense	possibly damaging	0.82
R1530:Scn5a	UTSW	9	119,495,562 (GRCm38)	missense	probably damaging	1.00
R1532:Scn5a	UTSW	9	119,533,847 (GRCm38)	missense	probably damaging	1.00
R1544:Scn5a	UTSW	9	119,486,633 (GRCm38)	missense	probably damaging	1.00
R1588:Scn5a	UTSW	9	119,521,301 (GRCm38)	missense	probably damaging	1.00
R1597:Scn5a	UTSW	9	119,562,497 (GRCm38)	missense	probably damaging	0.99
R1607:Scn5a	UTSW	9	119,486,092 (GRCm38)	missense	probably damaging	1.00
R1657:Scn5a	UTSW	9	119,562,380 (GRCm38)	missense	probably damaging	1.00
R1664:Scn5a	UTSW	9	119,521,177 (GRCm38)	missense	possibly damaging	0.84
R1785:Scn5a	UTSW	9	119,521,129 (GRCm38)	missense	probably damaging	1.00
R1925:Scn5a	UTSW	9	119,529,019 (GRCm38)	missense	probably benign
R1956:Scn5a	UTSW	9	119,517,413 (GRCm38)	missense	possibly damaging	0.82
R2006:Scn5a	UTSW	9	119,536,480 (GRCm38)	missense	probably damaging	1.00
R2061:Scn5a	UTSW	9	119,485,651 (GRCm38)	missense	probably damaging	0.98
R2083:Scn5a	UTSW	9	119,492,123 (GRCm38)	missense	probably benign	0.45
R2180:Scn5a	UTSW	9	119,516,051 (GRCm38)	missense	probably benign
R2216:Scn5a	UTSW	9	119,513,085 (GRCm38)	missense	probably benign
R2320:Scn5a	UTSW	9	119,529,956 (GRCm38)	critical splice donor site	probably null
R2377:Scn5a	UTSW	9	119,539,727 (GRCm38)	missense	probably damaging	1.00
R2510:Scn5a	UTSW	9	119,533,685 (GRCm38)	missense	probably benign	0.05
R3113:Scn5a	UTSW	9	119,485,672 (GRCm38)	missense	probably damaging	1.00
R3769:Scn5a	UTSW	9	119,552,076 (GRCm38)	critical splice acceptor site	probably benign
R4133:Scn5a	UTSW	9	119,486,372 (GRCm38)	missense	probably damaging	1.00
R4164:Scn5a	UTSW	9	119,495,778 (GRCm38)	missense	probably damaging	1.00
R4447:Scn5a	UTSW	9	119,550,627 (GRCm38)	missense	probably damaging	1.00
R4635:Scn5a	UTSW	9	119,528,985 (GRCm38)	missense	possibly damaging	0.47
R4734:Scn5a	UTSW	9	119,539,538 (GRCm38)	missense	probably damaging	0.98
R4829:Scn5a	UTSW	9	119,534,707 (GRCm38)	missense	probably benign	0.00
R4867:Scn5a	UTSW	9	119,550,671 (GRCm38)	nonsense	probably null
R5055:Scn5a	UTSW	9	119,522,566 (GRCm38)	missense	probably damaging	1.00
R5229:Scn5a	UTSW	9	119,535,976 (GRCm38)	missense	probably damaging	1.00
R5344:Scn5a	UTSW	9	119,534,007 (GRCm38)	missense	probably benign	0.25
R5424:Scn5a	UTSW	9	119,501,734 (GRCm38)	missense	probably damaging	1.00
R5517:Scn5a	UTSW	9	119,495,713 (GRCm38)	missense	probably damaging	1.00
R5526:Scn5a	UTSW	9	119,521,171 (GRCm38)	missense	probably damaging	1.00
R5560:Scn5a	UTSW	9	119,560,286 (GRCm38)	missense	probably damaging	1.00
R5719:Scn5a	UTSW	9	119,530,052 (GRCm38)	missense	possibly damaging	0.91
R5726:Scn5a	UTSW	9	119,533,847 (GRCm38)	missense	probably damaging	1.00
R5800:Scn5a	UTSW	9	119,501,666 (GRCm38)	missense	probably damaging	1.00
R5826:Scn5a	UTSW	9	119,521,333 (GRCm38)	missense	probably damaging	1.00
R6046:Scn5a	UTSW	9	119,562,374 (GRCm38)	missense	probably damaging	1.00
R6101:Scn5a	UTSW	9	119,522,650 (GRCm38)	missense	probably damaging	0.98
R6162:Scn5a	UTSW	9	119,522,555 (GRCm38)	missense	probably damaging	0.98
R6375:Scn5a	UTSW	9	119,543,356 (GRCm38)	missense	probably damaging	1.00
R6378:Scn5a	UTSW	9	119,486,036 (GRCm38)	missense	probably damaging	1.00
R6464:Scn5a	UTSW	9	119,534,580 (GRCm38)	missense	probably damaging	1.00
R6794:Scn5a	UTSW	9	119,535,889 (GRCm38)	missense	probably damaging	0.98
R6799:Scn5a	UTSW	9	119,495,622 (GRCm38)	missense	possibly damaging	0.62
R6850:Scn5a	UTSW	9	119,501,749 (GRCm38)	missense	possibly damaging	0.92
R6858:Scn5a	UTSW	9	119,492,090 (GRCm38)	missense	probably benign	0.11
R6861:Scn5a	UTSW	9	119,530,023 (GRCm38)	missense	probably damaging	1.00
R6875:Scn5a	UTSW	9	119,486,644 (GRCm38)	missense	probably damaging	1.00
R6989:Scn5a	UTSW	9	119,486,329 (GRCm38)	missense	probably damaging	1.00
R7009:Scn5a	UTSW	9	119,485,930 (GRCm38)	missense	probably damaging	1.00
R7064:Scn5a	UTSW	9	119,489,911 (GRCm38)	missense	probably damaging	0.99
R7145:Scn5a	UTSW	9	119,486,371 (GRCm38)	missense	probably damaging	1.00
R7212:Scn5a	UTSW	9	119,543,385 (GRCm38)	missense	possibly damaging	0.94
R7238:Scn5a	UTSW	9	119,491,544 (GRCm38)	missense	possibly damaging	0.73
R7266:Scn5a	UTSW	9	119,562,560 (GRCm38)	missense	probably benign	0.37
R7348:Scn5a	UTSW	9	119,535,833 (GRCm38)	missense	probably benign	0.00
R7399:Scn5a	UTSW	9	119,486,530 (GRCm38)	missense	probably damaging	1.00
R7453:Scn5a	UTSW	9	119,522,590 (GRCm38)	missense	possibly damaging	0.82
R7495:Scn5a	UTSW	9	119,543,134 (GRCm38)	missense	probably damaging	0.99
R7681:Scn5a	UTSW	9	119,529,977 (GRCm38)	missense	probably benign	0.01
R7729:Scn5a	UTSW	9	119,495,540 (GRCm38)	missense	probably damaging	1.00
R7791:Scn5a	UTSW	9	119,543,336 (GRCm38)	missense	possibly damaging	0.47
R7794:Scn5a	UTSW	9	119,529,087 (GRCm38)	missense	probably damaging	0.99
R7873:Scn5a	UTSW	9	119,498,127 (GRCm38)	missense	probably damaging	1.00
R7951:Scn5a	UTSW	9	119,529,079 (GRCm38)	missense	probably damaging	1.00
R8154:Scn5a	UTSW	9	119,562,545 (GRCm38)	missense	possibly damaging	0.48
R8306:Scn5a	UTSW	9	119,521,291 (GRCm38)	missense	probably damaging	1.00
R8329:Scn5a	UTSW	9	119,535,964 (GRCm38)	missense	probably damaging	0.96
R8390:Scn5a	UTSW	9	119,539,538 (GRCm38)	missense	possibly damaging	0.59
R8536:Scn5a	UTSW	9	119,539,745 (GRCm38)	missense	probably damaging	1.00
R8922:Scn5a	UTSW	9	119,534,700 (GRCm38)	missense	probably benign
R9000:Scn5a	UTSW	9	119,492,105 (GRCm38)	missense	possibly damaging	0.95
R9015:Scn5a	UTSW	9	119,552,076 (GRCm38)	critical splice acceptor site	probably benign
R9272:Scn5a	UTSW	9	119,486,651 (GRCm38)	missense	probably damaging	1.00
R9394:Scn5a	UTSW	9	119,495,616 (GRCm38)	missense	probably damaging	1.00
R9448:Scn5a	UTSW	9	119,552,061 (GRCm38)	missense	probably damaging	0.99
R9511:Scn5a	UTSW	9	119,522,545 (GRCm38)	missense	probably benign	0.00
R9563:Scn5a	UTSW	9	119,486,737 (GRCm38)	missense	probably damaging	1.00
R9593:Scn5a	UTSW	9	119,486,773 (GRCm38)	missense	probably damaging	1.00
X0023:Scn5a	UTSW	9	119,517,769 (GRCm38)	missense	probably damaging	1.00
X0065:Scn5a	UTSW	9	119,485,669 (GRCm38)	missense	probably damaging	1.00
Z1177:Scn5a	UTSW	9	119,533,931 (GRCm38)	missense	probably benign	0.04
Z1177:Scn5a	UTSW	9	119,522,518 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTGTTCAGAGCCATGCG -3'
(R):5'- GCCTACATGATGAATGAGAACTTCTC -3'

Sequencing Primer
(F):5'- TACCAGCCAGGGTTGCTCTAG -3'
(R):5'- TGATGAATGAGAACTTCTCCCGGC -3'

Posted On

2014-10-15