Incidental Mutation 'R6376:Scn3a'
ID 514951
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 044526-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6376 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 65287462-65397935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65291843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 1634 (K1634N)
Ref Sequence ENSEMBL: ENSMUSP00000097647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066432] [ENSMUST00000100069]
AlphaFold A2ASI5
Predicted Effect possibly damaging
Transcript: ENSMUST00000066432
AA Change: K1634N

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065023
Gene: ENSMUSG00000057182
AA Change: K1634N

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 possibly damaging
Transcript: ENSMUST00000100069
AA Change: K1634N

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097647
Gene: ENSMUSG00000057182
AA Change: K1634N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (81/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,339,456 (GRCm39) E106D probably damaging Het
A830018L16Rik A T 1: 11,868,718 (GRCm39) N333Y probably damaging Het
Abca4 T A 3: 121,917,309 (GRCm39) M1007K possibly damaging Het
Accsl T A 2: 93,687,343 (GRCm39) I495F probably damaging Het
Acsl3 T C 1: 78,674,182 (GRCm39) S373P possibly damaging Het
Adam7 A G 14: 68,742,546 (GRCm39) I689T possibly damaging Het
Akap11 G A 14: 78,752,336 (GRCm39) T179I probably damaging Het
Ankmy1 T C 1: 92,816,187 (GRCm39) K309R possibly damaging Het
Apaf1 A T 10: 90,859,673 (GRCm39) I824N probably damaging Het
Apc2 T A 10: 80,148,488 (GRCm39) C1152S probably damaging Het
Arhgap17 C A 7: 122,899,727 (GRCm39) W409L probably damaging Het
Arhgef15 T C 11: 68,845,796 (GRCm39) I19V unknown Het
Arnt C A 3: 95,397,936 (GRCm39) P573H probably damaging Het
Arvcf G A 16: 18,223,882 (GRCm39) G932R probably damaging Het
Atg4a-ps C T 3: 103,553,044 (GRCm39) W99* probably null Het
Atp13a5 T A 16: 29,056,004 (GRCm39) D1052V probably benign Het
Atp2b4 T C 1: 133,642,797 (GRCm39) T1103A probably damaging Het
B4galnt4 C A 7: 140,647,335 (GRCm39) Q362K possibly damaging Het
Cd320 T A 17: 34,066,491 (GRCm39) N90K probably benign Het
Cep170b A T 12: 112,698,502 (GRCm39) I87F probably damaging Het
Coq3 T G 4: 21,900,486 (GRCm39) C238G probably benign Het
Cpa5 A T 6: 30,614,044 (GRCm39) Q62L probably benign Het
Ctsg A T 14: 56,339,110 (GRCm39) C49* probably null Het
Cul9 T C 17: 46,819,489 (GRCm39) T2000A probably damaging Het
Dedd C T 1: 171,167,790 (GRCm39) P155S probably benign Het
Dnah1 A G 14: 30,997,565 (GRCm39) S2598P probably damaging Het
Dnah14 C T 1: 181,433,459 (GRCm39) P379S possibly damaging Het
Dync2h1 A T 9: 7,165,703 (GRCm39) S519R probably benign Het
Eea1 A G 10: 95,874,660 (GRCm39) S1192G probably benign Het
Eif5b T C 1: 38,084,760 (GRCm39) I869T probably damaging Het
Elavl4 C A 4: 110,112,651 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Exoc3l2 G A 7: 19,203,635 (GRCm39) A76T possibly damaging Het
Fam89b T C 19: 5,778,757 (GRCm39) Y144C probably damaging Het
Greb1 T C 12: 16,749,580 (GRCm39) E1082G probably damaging Het
Gtf3a A T 5: 146,890,798 (GRCm39) probably null Het
Hoxc12 C A 15: 102,845,524 (GRCm39) F79L possibly damaging Het
Hspb8 G T 5: 116,547,491 (GRCm39) L164I probably damaging Het
Ina C T 19: 47,003,564 (GRCm39) A124V probably benign Het
Inhbb T A 1: 119,345,411 (GRCm39) I293F probably damaging Het
Itpr3 A G 17: 27,314,449 (GRCm39) Y633C possibly damaging Het
Jag2 C T 12: 112,872,949 (GRCm39) V1102I probably benign Het
Kalrn A T 16: 33,796,361 (GRCm39) F1138Y probably benign Het
Large2 T A 2: 92,200,853 (GRCm39) probably benign Het
Lats2 A G 14: 57,959,966 (GRCm39) S177P probably benign Het
Lims2 G A 18: 32,087,515 (GRCm39) R124H possibly damaging Het
Lrp2 T A 2: 69,313,787 (GRCm39) T2315S probably benign Het
Lrrc4c A C 2: 97,459,391 (GRCm39) T6P probably benign Het
Lrrk2 T C 15: 91,626,469 (GRCm39) L1171S possibly damaging Het
Man2b2 A T 5: 36,978,378 (GRCm39) M302K probably damaging Het
Mocos G A 18: 24,834,542 (GRCm39) G860R possibly damaging Het
Mylk3 T A 8: 86,085,571 (GRCm39) D258V possibly damaging Het
Nkx1-2 C T 7: 132,201,240 (GRCm39) D6N probably damaging Het
Nrp2 A G 1: 62,758,176 (GRCm39) N54S possibly damaging Het
Nt5el T C 13: 105,256,473 (GRCm39) I514T possibly damaging Het
Or2d2 A G 7: 106,727,848 (GRCm39) F251L probably benign Het
Pacsin1 A T 17: 27,926,879 (GRCm39) T195S probably benign Het
Pank4 T C 4: 155,056,693 (GRCm39) probably null Het
Pdgfra A T 5: 75,327,180 (GRCm39) M126L probably benign Het
Podxl T A 6: 31,505,432 (GRCm39) T204S probably benign Het
Pole G A 5: 110,484,240 (GRCm39) D2175N probably damaging Het
Pramel16 C T 4: 143,677,267 (GRCm39) G104E probably benign Het
Prkdc A G 16: 15,587,749 (GRCm39) K2545E probably benign Het
Prodh T C 16: 17,897,849 (GRCm39) I183V probably benign Het
Ptch1 T C 13: 63,691,422 (GRCm39) D277G possibly damaging Het
Rapgef5 G A 12: 117,684,988 (GRCm39) V246M probably damaging Het
Rubcnl A G 14: 75,269,834 (GRCm39) N164S probably benign Het
Samd4 A T 14: 47,290,419 (GRCm39) L175F probably damaging Het
Scart1 G A 7: 139,808,642 (GRCm39) G851D probably damaging Het
Scimp C A 11: 70,688,893 (GRCm39) W41L possibly damaging Het
Spta1 A G 1: 174,030,888 (GRCm39) R957G probably benign Het
Sptlc3 T A 2: 139,478,692 (GRCm39) N550K probably benign Het
Srebf1 T C 11: 60,094,361 (GRCm39) N609D probably null Het
Styxl1 A T 5: 135,776,664 (GRCm39) L164H probably benign Het
Synpo2l A T 14: 20,710,702 (GRCm39) D865E probably damaging Het
Tnfsf15 T C 4: 63,663,267 (GRCm39) M19V probably damaging Het
Trappc8 G C 18: 20,970,132 (GRCm39) R953G probably benign Het
Trav13-1 A G 14: 53,782,800 (GRCm39) N50S probably benign Het
Trim12a T C 7: 103,955,241 (GRCm39) K161E probably benign Het
Vipr1 C A 9: 121,493,640 (GRCm39) N230K probably damaging Het
Xirp1 A T 9: 119,847,557 (GRCm39) V3E probably damaging Het
Zfp768 A G 7: 126,943,892 (GRCm39) F82L probably benign Het
Other mutations in Scn3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Scn3a APN 2 65,327,736 (GRCm39) missense probably benign 0.05
IGL01086:Scn3a APN 2 65,300,503 (GRCm39) missense probably benign 0.27
IGL01141:Scn3a APN 2 65,325,457 (GRCm39) missense possibly damaging 0.73
IGL01150:Scn3a APN 2 65,327,709 (GRCm39) splice site probably null
IGL01564:Scn3a APN 2 65,291,790 (GRCm39) missense probably damaging 1.00
IGL01594:Scn3a APN 2 65,291,775 (GRCm39) missense probably damaging 1.00
IGL01751:Scn3a APN 2 65,291,596 (GRCm39) missense possibly damaging 0.87
IGL01803:Scn3a APN 2 65,352,127 (GRCm39) unclassified probably benign
IGL01822:Scn3a APN 2 65,325,608 (GRCm39) missense probably damaging 1.00
IGL02063:Scn3a APN 2 65,291,854 (GRCm39) missense probably damaging 1.00
IGL02142:Scn3a APN 2 65,356,965 (GRCm39) missense possibly damaging 0.95
IGL02198:Scn3a APN 2 65,338,833 (GRCm39) missense probably benign 0.12
IGL02501:Scn3a APN 2 65,356,899 (GRCm39) missense possibly damaging 0.82
IGL02608:Scn3a APN 2 65,354,510 (GRCm39) nonsense probably null
IGL02645:Scn3a APN 2 65,344,871 (GRCm39) missense probably benign 0.12
IGL02653:Scn3a APN 2 65,291,531 (GRCm39) missense probably damaging 1.00
IGL03077:Scn3a APN 2 65,367,016 (GRCm39) missense probably damaging 0.99
IGL03099:Scn3a APN 2 65,367,016 (GRCm39) missense probably damaging 0.99
IGL03299:Scn3a APN 2 65,327,860 (GRCm39) missense probably benign 0.01
IGL03327:Scn3a APN 2 65,367,016 (GRCm39) missense probably damaging 0.99
IGL03346:Scn3a APN 2 65,367,016 (GRCm39) missense probably damaging 0.99
IGL03355:Scn3a APN 2 65,290,912 (GRCm39) missense possibly damaging 0.91
curtsey UTSW 2 65,295,180 (GRCm39) missense probably damaging 1.00
dip UTSW 2 65,354,523 (GRCm39) missense probably benign 0.01
Regime UTSW 2 65,355,194 (GRCm39) missense possibly damaging 0.93
Willpower UTSW 2 65,356,098 (GRCm39) missense possibly damaging 0.92
R0019:Scn3a UTSW 2 65,292,045 (GRCm39) missense probably damaging 1.00
R0316:Scn3a UTSW 2 65,291,173 (GRCm39) missense probably damaging 1.00
R0374:Scn3a UTSW 2 65,338,918 (GRCm39) missense probably damaging 0.97
R0414:Scn3a UTSW 2 65,356,326 (GRCm39) splice site probably benign
R0609:Scn3a UTSW 2 65,366,854 (GRCm39) missense probably damaging 0.96
R0613:Scn3a UTSW 2 65,302,628 (GRCm39) missense possibly damaging 0.92
R0645:Scn3a UTSW 2 65,355,194 (GRCm39) missense possibly damaging 0.93
R0665:Scn3a UTSW 2 65,314,755 (GRCm39) missense probably null 0.00
R0667:Scn3a UTSW 2 65,314,755 (GRCm39) missense probably null 0.00
R0710:Scn3a UTSW 2 65,299,390 (GRCm39) missense probably damaging 0.99
R1202:Scn3a UTSW 2 65,336,491 (GRCm39) missense probably benign 0.07
R1440:Scn3a UTSW 2 65,359,785 (GRCm39) missense possibly damaging 0.95
R1447:Scn3a UTSW 2 65,300,324 (GRCm39) missense probably damaging 1.00
R1564:Scn3a UTSW 2 65,344,979 (GRCm39) missense probably damaging 0.98
R1595:Scn3a UTSW 2 65,329,323 (GRCm39) missense probably damaging 0.99
R1775:Scn3a UTSW 2 65,302,686 (GRCm39) missense probably damaging 1.00
R1781:Scn3a UTSW 2 65,302,729 (GRCm39) missense probably damaging 1.00
R1822:Scn3a UTSW 2 65,314,716 (GRCm39) missense probably damaging 1.00
R1924:Scn3a UTSW 2 65,291,878 (GRCm39) missense probably damaging 1.00
R2061:Scn3a UTSW 2 65,291,652 (GRCm39) missense probably damaging 1.00
R2070:Scn3a UTSW 2 65,351,210 (GRCm39) missense possibly damaging 0.72
R2174:Scn3a UTSW 2 65,337,550 (GRCm39) missense probably damaging 0.99
R2656:Scn3a UTSW 2 65,356,862 (GRCm39) missense probably damaging 0.99
R2680:Scn3a UTSW 2 65,366,880 (GRCm39) missense probably benign 0.04
R3882:Scn3a UTSW 2 65,312,623 (GRCm39) missense probably benign 0.03
R4019:Scn3a UTSW 2 65,356,295 (GRCm39) intron probably benign
R4106:Scn3a UTSW 2 65,325,379 (GRCm39) missense probably benign 0.07
R4108:Scn3a UTSW 2 65,325,379 (GRCm39) missense probably benign 0.07
R4109:Scn3a UTSW 2 65,325,379 (GRCm39) missense probably benign 0.07
R4225:Scn3a UTSW 2 65,366,771 (GRCm39) missense probably damaging 0.99
R4419:Scn3a UTSW 2 65,297,304 (GRCm39) missense probably damaging 1.00
R4552:Scn3a UTSW 2 65,354,523 (GRCm39) missense probably benign 0.01
R4687:Scn3a UTSW 2 65,295,074 (GRCm39) missense possibly damaging 0.65
R4780:Scn3a UTSW 2 65,336,537 (GRCm39) missense probably damaging 1.00
R4820:Scn3a UTSW 2 65,291,622 (GRCm39) missense probably damaging 1.00
R4856:Scn3a UTSW 2 65,291,376 (GRCm39) missense probably damaging 1.00
R4886:Scn3a UTSW 2 65,291,376 (GRCm39) missense probably damaging 1.00
R4914:Scn3a UTSW 2 65,291,799 (GRCm39) missense probably damaging 1.00
R4915:Scn3a UTSW 2 65,291,799 (GRCm39) missense probably damaging 1.00
R4918:Scn3a UTSW 2 65,291,799 (GRCm39) missense probably damaging 1.00
R5088:Scn3a UTSW 2 65,302,643 (GRCm39) missense probably damaging 1.00
R5101:Scn3a UTSW 2 65,291,850 (GRCm39) missense probably damaging 1.00
R5128:Scn3a UTSW 2 65,338,862 (GRCm39) missense probably benign 0.08
R5132:Scn3a UTSW 2 65,298,548 (GRCm39) missense probably benign 0.09
R5297:Scn3a UTSW 2 65,299,378 (GRCm39) missense possibly damaging 0.83
R5595:Scn3a UTSW 2 65,291,057 (GRCm39) missense probably benign
R5699:Scn3a UTSW 2 65,337,608 (GRCm39) missense possibly damaging 0.54
R5730:Scn3a UTSW 2 65,325,604 (GRCm39) missense probably benign 0.00
R5735:Scn3a UTSW 2 65,314,803 (GRCm39) missense probably benign 0.09
R5735:Scn3a UTSW 2 65,312,622 (GRCm39) missense probably damaging 0.98
R5855:Scn3a UTSW 2 65,295,074 (GRCm39) missense possibly damaging 0.65
R5888:Scn3a UTSW 2 65,327,742 (GRCm39) missense probably benign 0.06
R5898:Scn3a UTSW 2 65,345,039 (GRCm39) missense probably damaging 0.96
R5935:Scn3a UTSW 2 65,295,180 (GRCm39) missense probably damaging 1.00
R5970:Scn3a UTSW 2 65,325,125 (GRCm39) intron probably benign
R6214:Scn3a UTSW 2 65,325,380 (GRCm39) missense probably benign 0.29
R6215:Scn3a UTSW 2 65,325,380 (GRCm39) missense probably benign 0.29
R6235:Scn3a UTSW 2 65,291,679 (GRCm39) missense probably damaging 0.97
R6307:Scn3a UTSW 2 65,302,685 (GRCm39) missense probably damaging 1.00
R6355:Scn3a UTSW 2 65,291,643 (GRCm39) missense probably damaging 0.99
R6517:Scn3a UTSW 2 65,327,907 (GRCm39) missense possibly damaging 0.73
R6775:Scn3a UTSW 2 65,352,159 (GRCm39) missense possibly damaging 0.82
R6893:Scn3a UTSW 2 65,356,098 (GRCm39) missense possibly damaging 0.92
R6986:Scn3a UTSW 2 65,338,962 (GRCm39) missense probably damaging 0.97
R7065:Scn3a UTSW 2 65,295,199 (GRCm39) missense probably benign
R7078:Scn3a UTSW 2 65,327,944 (GRCm39) missense probably damaging 1.00
R7146:Scn3a UTSW 2 65,313,486 (GRCm39) missense probably damaging 1.00
R7240:Scn3a UTSW 2 65,299,386 (GRCm39) missense possibly damaging 0.77
R7294:Scn3a UTSW 2 65,302,685 (GRCm39) missense probably damaging 1.00
R7352:Scn3a UTSW 2 65,356,045 (GRCm39) missense possibly damaging 0.51
R7636:Scn3a UTSW 2 65,328,033 (GRCm39) missense probably damaging 1.00
R7708:Scn3a UTSW 2 65,313,512 (GRCm39) missense possibly damaging 0.47
R7733:Scn3a UTSW 2 65,338,994 (GRCm39) missense probably benign 0.08
R7761:Scn3a UTSW 2 65,359,798 (GRCm39) missense possibly damaging 0.95
R7792:Scn3a UTSW 2 65,297,334 (GRCm39) nonsense probably null
R7828:Scn3a UTSW 2 65,338,918 (GRCm39) missense probably damaging 0.97
R7875:Scn3a UTSW 2 65,327,826 (GRCm39) missense probably damaging 1.00
R7884:Scn3a UTSW 2 65,366,859 (GRCm39) missense probably damaging 0.96
R7958:Scn3a UTSW 2 65,336,537 (GRCm39) missense probably damaging 1.00
R7965:Scn3a UTSW 2 65,336,555 (GRCm39) missense probably damaging 1.00
R8171:Scn3a UTSW 2 65,361,154 (GRCm39) missense possibly damaging 0.85
R8345:Scn3a UTSW 2 65,329,335 (GRCm39) missense possibly damaging 0.86
R8356:Scn3a UTSW 2 65,291,017 (GRCm39) missense probably benign 0.08
R8456:Scn3a UTSW 2 65,291,017 (GRCm39) missense probably benign 0.08
R8527:Scn3a UTSW 2 65,327,863 (GRCm39) missense probably damaging 0.99
R8688:Scn3a UTSW 2 65,356,047 (GRCm39) missense possibly damaging 0.92
R8731:Scn3a UTSW 2 65,298,507 (GRCm39) nonsense probably null
R8901:Scn3a UTSW 2 65,352,252 (GRCm39) missense probably benign 0.00
R8910:Scn3a UTSW 2 65,338,883 (GRCm39) missense probably damaging 1.00
R9011:Scn3a UTSW 2 65,352,170 (GRCm39) missense possibly damaging 0.71
R9364:Scn3a UTSW 2 65,291,596 (GRCm39) missense possibly damaging 0.87
R9460:Scn3a UTSW 2 65,300,535 (GRCm39) missense probably damaging 1.00
R9496:Scn3a UTSW 2 65,312,493 (GRCm39) critical splice donor site probably null
R9542:Scn3a UTSW 2 65,366,860 (GRCm39) missense probably damaging 0.99
R9563:Scn3a UTSW 2 65,291,595 (GRCm39) missense probably damaging 1.00
X0062:Scn3a UTSW 2 65,355,191 (GRCm39) nonsense probably null
X0062:Scn3a UTSW 2 65,297,345 (GRCm39) missense probably damaging 0.98
Z1177:Scn3a UTSW 2 65,329,236 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCACTGAGCTTCCAGGGTG -3'
(R):5'- TTCCTTGCTGAGCTGATAGAGAAG -3'

Sequencing Primer
(F):5'- TGAATTGCATCAGGGTCACAGTC -3'
(R):5'- AGAGAAGTATTTTGTGTCTCCTACCC -3'
Posted On 2018-05-04