Incidental Mutation 'R0019:Scn3a'
ID 15731
Institutional Source Beutler Lab
Gene Symbol Scn3a
Ensembl Gene ENSMUSG00000057182
Gene Name sodium channel, voltage-gated, type III, alpha
Synonyms Nav1.3, LOC381367
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0019 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 65457118-65567627 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65461701 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1567 (V1567E)
Ref Sequence ENSEMBL: ENSMUSP00000097647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066432] [ENSMUST00000100069]
AlphaFold A2ASI5
Predicted Effect probably damaging
Transcript: ENSMUST00000066432
AA Change: V1567E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: V1567E

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
Pfam:Ion_trans 127 435 5.2e-83 PFAM
low complexity region 473 498 N/A INTRINSIC
Pfam:Na_trans_cytopl 504 626 2e-42 PFAM
Pfam:Ion_trans 710 945 1.4e-58 PFAM
Pfam:Na_trans_assoc 949 1153 2.7e-58 PFAM
Pfam:Ion_trans 1157 1430 3e-67 PFAM
Pfam:Ion_trans 1477 1734 6.3e-55 PFAM
Pfam:PKD_channel 1573 1728 8e-7 PFAM
IQ 1851 1873 5.75e-2 SMART
low complexity region 1913 1921 N/A INTRINSIC
low complexity region 1927 1943 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100069
AA Change: V1567E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: V1567E

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
Pfam:Ion_trans 127 435 5.2e-83 PFAM
low complexity region 473 498 N/A INTRINSIC
Pfam:Na_trans_cytopl 504 626 2e-42 PFAM
Pfam:Ion_trans 710 945 1.4e-58 PFAM
Pfam:Na_trans_assoc 949 1153 2.7e-58 PFAM
Pfam:Ion_trans 1157 1430 3e-67 PFAM
Pfam:Ion_trans 1477 1734 6.3e-55 PFAM
Pfam:PKD_channel 1573 1728 8e-7 PFAM
IQ 1851 1873 5.75e-2 SMART
low complexity region 1913 1921 N/A INTRINSIC
low complexity region 1927 1943 N/A INTRINSIC
Meta Mutation Damage Score 0.9505 question?
Coding Region Coverage
  • 1x: 83.5%
  • 3x: 78.2%
  • 10x: 64.4%
  • 20x: 48.4%
Validation Efficiency 91% (93/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in lethality of most mutants by weaning. Heterozygous mice exhibit improved glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13a T A 5: 114,786,081 probably benign Het
Arhgef12 A T 9: 42,978,233 W1029R probably damaging Het
Aunip T A 4: 134,523,512 L256* probably null Het
Bahcc1 T A 11: 120,289,771 M2607K probably damaging Het
Cacng6 G T 7: 3,431,868 M152I possibly damaging Het
Cep120 A G 18: 53,709,047 probably benign Het
D130043K22Rik T A 13: 24,880,812 V737D probably damaging Het
Dock10 A G 1: 80,605,925 S187P probably damaging Het
Eogt C T 6: 97,134,273 probably benign Het
Fasn A T 11: 120,807,998 probably benign Het
Frem2 C T 3: 53,523,678 V2745M probably damaging Het
Fshb T C 2: 107,057,345 S110G probably benign Het
Gpi1 A G 7: 34,220,899 Y144H probably damaging Het
Gsap T C 5: 21,270,622 probably benign Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Herc3 T C 6: 58,885,065 probably benign Het
Il1r2 C T 1: 40,125,050 T359M probably damaging Het
Il6st T C 13: 112,501,148 C563R possibly damaging Het
Irs1 T A 1: 82,287,256 K1080* probably null Het
Itpr1 T C 6: 108,354,626 V182A probably damaging Het
Kalrn C T 16: 34,198,514 probably benign Het
Kcnj11 G A 7: 46,098,939 A320V probably benign Het
Lrig1 T A 6: 94,607,349 R905* probably null Het
Lrrc43 T C 5: 123,501,315 L469P probably damaging Het
Med29 A T 7: 28,391,076 probably benign Het
Mroh7 T C 4: 106,721,426 I18M probably benign Het
Nalcn A C 14: 123,507,489 C376G probably benign Het
Ncor2 C T 5: 125,119,481 probably null Het
Nek1 T A 8: 61,089,734 M786K probably benign Het
Nrxn2 A G 19: 6,509,957 probably benign Het
Nxpe2 T C 9: 48,319,780 I430V probably benign Het
Pcolce2 A G 9: 95,694,964 probably null Het
Pdcl A T 2: 37,351,920 L273M probably damaging Het
Pml A T 9: 58,220,493 S610R probably damaging Het
Polk C A 13: 96,504,616 R144S probably damaging Het
Rlf A G 4: 121,146,572 V1737A possibly damaging Het
Rubcnl T A 14: 75,048,263 probably benign Het
Scyl2 A G 10: 89,659,321 I296T probably benign Het
Slc15a3 A G 19: 10,856,040 I474V probably damaging Het
Sstr1 T C 12: 58,213,149 L186S probably damaging Het
Tmem108 A T 9: 103,489,340 V484D possibly damaging Het
Trim69 A T 2: 122,174,477 probably null Het
Trim80 T G 11: 115,447,942 Y533D probably damaging Het
Uhrf1bp1l A G 10: 89,775,969 T5A probably damaging Het
Unc13b T C 4: 43,096,990 I121T possibly damaging Het
Usp40 T C 1: 87,978,411 T701A probably benign Het
Xpr1 A G 1: 155,332,399 probably benign Het
Ywhab T A 2: 164,016,170 I219N probably damaging Het
Zfp219 G T 14: 52,009,028 T169K probably damaging Het
Other mutations in Scn3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Scn3a APN 2 65,497,392 (GRCm38) missense probably benign 0.05
IGL01086:Scn3a APN 2 65,470,159 (GRCm38) missense probably benign 0.27
IGL01141:Scn3a APN 2 65,495,113 (GRCm38) missense possibly damaging 0.73
IGL01150:Scn3a APN 2 65,497,365 (GRCm38) splice site probably null
IGL01564:Scn3a APN 2 65,461,446 (GRCm38) missense probably damaging 1.00
IGL01594:Scn3a APN 2 65,461,431 (GRCm38) missense probably damaging 1.00
IGL01751:Scn3a APN 2 65,461,252 (GRCm38) missense possibly damaging 0.87
IGL01803:Scn3a APN 2 65,521,783 (GRCm38) unclassified probably benign
IGL01822:Scn3a APN 2 65,495,264 (GRCm38) missense probably damaging 1.00
IGL02063:Scn3a APN 2 65,461,510 (GRCm38) missense probably damaging 1.00
IGL02142:Scn3a APN 2 65,526,621 (GRCm38) missense possibly damaging 0.95
IGL02198:Scn3a APN 2 65,508,489 (GRCm38) missense probably benign 0.12
IGL02501:Scn3a APN 2 65,526,555 (GRCm38) missense possibly damaging 0.82
IGL02608:Scn3a APN 2 65,524,166 (GRCm38) nonsense probably null
IGL02645:Scn3a APN 2 65,514,527 (GRCm38) missense probably benign 0.12
IGL02653:Scn3a APN 2 65,461,187 (GRCm38) missense probably damaging 1.00
IGL03077:Scn3a APN 2 65,536,672 (GRCm38) missense probably damaging 0.99
IGL03099:Scn3a APN 2 65,536,672 (GRCm38) missense probably damaging 0.99
IGL03299:Scn3a APN 2 65,497,516 (GRCm38) missense probably benign 0.01
IGL03327:Scn3a APN 2 65,536,672 (GRCm38) missense probably damaging 0.99
IGL03346:Scn3a APN 2 65,536,672 (GRCm38) missense probably damaging 0.99
IGL03355:Scn3a APN 2 65,460,568 (GRCm38) missense possibly damaging 0.91
curtsey UTSW 2 65,464,836 (GRCm38) missense probably damaging 1.00
dip UTSW 2 65,524,179 (GRCm38) missense probably benign 0.01
Regime UTSW 2 65,524,850 (GRCm38) missense possibly damaging 0.93
Willpower UTSW 2 65,525,754 (GRCm38) missense possibly damaging 0.92
R0316:Scn3a UTSW 2 65,460,829 (GRCm38) missense probably damaging 1.00
R0374:Scn3a UTSW 2 65,508,574 (GRCm38) missense probably damaging 0.97
R0414:Scn3a UTSW 2 65,525,982 (GRCm38) splice site probably benign
R0609:Scn3a UTSW 2 65,536,510 (GRCm38) missense probably damaging 0.96
R0613:Scn3a UTSW 2 65,472,284 (GRCm38) missense possibly damaging 0.92
R0645:Scn3a UTSW 2 65,524,850 (GRCm38) missense possibly damaging 0.93
R0665:Scn3a UTSW 2 65,484,411 (GRCm38) missense probably null 0.00
R0667:Scn3a UTSW 2 65,484,411 (GRCm38) missense probably null 0.00
R0710:Scn3a UTSW 2 65,469,046 (GRCm38) missense probably damaging 0.99
R1202:Scn3a UTSW 2 65,506,147 (GRCm38) missense probably benign 0.07
R1440:Scn3a UTSW 2 65,529,441 (GRCm38) missense possibly damaging 0.95
R1447:Scn3a UTSW 2 65,469,980 (GRCm38) missense probably damaging 1.00
R1564:Scn3a UTSW 2 65,514,635 (GRCm38) missense probably damaging 0.98
R1595:Scn3a UTSW 2 65,498,979 (GRCm38) missense probably damaging 0.99
R1775:Scn3a UTSW 2 65,472,342 (GRCm38) missense probably damaging 1.00
R1781:Scn3a UTSW 2 65,472,385 (GRCm38) missense probably damaging 1.00
R1822:Scn3a UTSW 2 65,484,372 (GRCm38) missense probably damaging 1.00
R1924:Scn3a UTSW 2 65,461,534 (GRCm38) missense probably damaging 1.00
R2061:Scn3a UTSW 2 65,461,308 (GRCm38) missense probably damaging 1.00
R2070:Scn3a UTSW 2 65,520,866 (GRCm38) missense possibly damaging 0.72
R2174:Scn3a UTSW 2 65,507,206 (GRCm38) missense probably damaging 0.99
R2656:Scn3a UTSW 2 65,526,518 (GRCm38) missense probably damaging 0.99
R2680:Scn3a UTSW 2 65,536,536 (GRCm38) missense probably benign 0.04
R3882:Scn3a UTSW 2 65,482,279 (GRCm38) missense probably benign 0.03
R4019:Scn3a UTSW 2 65,525,951 (GRCm38) intron probably benign
R4106:Scn3a UTSW 2 65,495,035 (GRCm38) missense probably benign 0.07
R4108:Scn3a UTSW 2 65,495,035 (GRCm38) missense probably benign 0.07
R4109:Scn3a UTSW 2 65,495,035 (GRCm38) missense probably benign 0.07
R4225:Scn3a UTSW 2 65,536,427 (GRCm38) missense probably damaging 0.99
R4419:Scn3a UTSW 2 65,466,960 (GRCm38) missense probably damaging 1.00
R4552:Scn3a UTSW 2 65,524,179 (GRCm38) missense probably benign 0.01
R4687:Scn3a UTSW 2 65,464,730 (GRCm38) missense possibly damaging 0.65
R4780:Scn3a UTSW 2 65,506,193 (GRCm38) missense probably damaging 1.00
R4820:Scn3a UTSW 2 65,461,278 (GRCm38) missense probably damaging 1.00
R4856:Scn3a UTSW 2 65,461,032 (GRCm38) missense probably damaging 1.00
R4886:Scn3a UTSW 2 65,461,032 (GRCm38) missense probably damaging 1.00
R4914:Scn3a UTSW 2 65,461,455 (GRCm38) missense probably damaging 1.00
R4915:Scn3a UTSW 2 65,461,455 (GRCm38) missense probably damaging 1.00
R4918:Scn3a UTSW 2 65,461,455 (GRCm38) missense probably damaging 1.00
R5088:Scn3a UTSW 2 65,472,299 (GRCm38) missense probably damaging 1.00
R5101:Scn3a UTSW 2 65,461,506 (GRCm38) missense probably damaging 1.00
R5128:Scn3a UTSW 2 65,508,518 (GRCm38) missense probably benign 0.08
R5132:Scn3a UTSW 2 65,468,204 (GRCm38) missense probably benign 0.09
R5297:Scn3a UTSW 2 65,469,034 (GRCm38) missense possibly damaging 0.83
R5595:Scn3a UTSW 2 65,460,713 (GRCm38) missense probably benign
R5699:Scn3a UTSW 2 65,507,264 (GRCm38) missense possibly damaging 0.54
R5730:Scn3a UTSW 2 65,495,260 (GRCm38) missense probably benign 0.00
R5735:Scn3a UTSW 2 65,484,459 (GRCm38) missense probably benign 0.09
R5735:Scn3a UTSW 2 65,482,278 (GRCm38) missense probably damaging 0.98
R5855:Scn3a UTSW 2 65,464,730 (GRCm38) missense possibly damaging 0.65
R5888:Scn3a UTSW 2 65,497,398 (GRCm38) missense probably benign 0.06
R5898:Scn3a UTSW 2 65,514,695 (GRCm38) missense probably damaging 0.96
R5935:Scn3a UTSW 2 65,464,836 (GRCm38) missense probably damaging 1.00
R5970:Scn3a UTSW 2 65,494,781 (GRCm38) intron probably benign
R6214:Scn3a UTSW 2 65,495,036 (GRCm38) missense probably benign 0.29
R6215:Scn3a UTSW 2 65,495,036 (GRCm38) missense probably benign 0.29
R6235:Scn3a UTSW 2 65,461,335 (GRCm38) missense probably damaging 0.97
R6307:Scn3a UTSW 2 65,472,341 (GRCm38) missense probably damaging 1.00
R6355:Scn3a UTSW 2 65,461,299 (GRCm38) missense probably damaging 0.99
R6376:Scn3a UTSW 2 65,461,499 (GRCm38) missense possibly damaging 0.88
R6517:Scn3a UTSW 2 65,497,563 (GRCm38) missense possibly damaging 0.73
R6775:Scn3a UTSW 2 65,521,815 (GRCm38) missense possibly damaging 0.82
R6893:Scn3a UTSW 2 65,525,754 (GRCm38) missense possibly damaging 0.92
R6986:Scn3a UTSW 2 65,508,618 (GRCm38) missense probably damaging 0.97
R7065:Scn3a UTSW 2 65,464,855 (GRCm38) missense probably benign
R7078:Scn3a UTSW 2 65,497,600 (GRCm38) missense probably damaging 1.00
R7146:Scn3a UTSW 2 65,483,142 (GRCm38) missense probably damaging 1.00
R7240:Scn3a UTSW 2 65,469,042 (GRCm38) missense possibly damaging 0.77
R7294:Scn3a UTSW 2 65,472,341 (GRCm38) missense probably damaging 1.00
R7352:Scn3a UTSW 2 65,525,701 (GRCm38) missense possibly damaging 0.51
R7636:Scn3a UTSW 2 65,497,689 (GRCm38) missense probably damaging 1.00
R7708:Scn3a UTSW 2 65,483,168 (GRCm38) missense possibly damaging 0.47
R7733:Scn3a UTSW 2 65,508,650 (GRCm38) missense probably benign 0.08
R7761:Scn3a UTSW 2 65,529,454 (GRCm38) missense possibly damaging 0.95
R7792:Scn3a UTSW 2 65,466,990 (GRCm38) nonsense probably null
R7828:Scn3a UTSW 2 65,508,574 (GRCm38) missense probably damaging 0.97
R7875:Scn3a UTSW 2 65,497,482 (GRCm38) missense probably damaging 1.00
R7884:Scn3a UTSW 2 65,536,515 (GRCm38) missense probably damaging 0.96
R7958:Scn3a UTSW 2 65,506,193 (GRCm38) missense probably damaging 1.00
R7965:Scn3a UTSW 2 65,506,211 (GRCm38) missense probably damaging 1.00
R8171:Scn3a UTSW 2 65,530,810 (GRCm38) missense possibly damaging 0.85
R8345:Scn3a UTSW 2 65,498,991 (GRCm38) missense possibly damaging 0.86
R8356:Scn3a UTSW 2 65,460,673 (GRCm38) missense probably benign 0.08
R8456:Scn3a UTSW 2 65,460,673 (GRCm38) missense probably benign 0.08
R8527:Scn3a UTSW 2 65,497,519 (GRCm38) missense probably damaging 0.99
R8688:Scn3a UTSW 2 65,525,703 (GRCm38) missense possibly damaging 0.92
R8731:Scn3a UTSW 2 65,468,163 (GRCm38) nonsense probably null
R8901:Scn3a UTSW 2 65,521,908 (GRCm38) missense probably benign 0.00
R8910:Scn3a UTSW 2 65,508,539 (GRCm38) missense probably damaging 1.00
R9011:Scn3a UTSW 2 65,521,826 (GRCm38) missense possibly damaging 0.71
R9364:Scn3a UTSW 2 65,461,252 (GRCm38) missense possibly damaging 0.87
R9460:Scn3a UTSW 2 65,470,191 (GRCm38) missense probably damaging 1.00
R9496:Scn3a UTSW 2 65,482,149 (GRCm38) critical splice donor site probably null
R9542:Scn3a UTSW 2 65,536,516 (GRCm38) missense probably damaging 0.99
R9563:Scn3a UTSW 2 65,461,251 (GRCm38) missense probably damaging 1.00
X0062:Scn3a UTSW 2 65,524,847 (GRCm38) nonsense probably null
X0062:Scn3a UTSW 2 65,467,001 (GRCm38) missense probably damaging 0.98
Z1177:Scn3a UTSW 2 65,498,892 (GRCm38) missense probably damaging 1.00
Posted On 2012-12-21