Incidental Mutation 'R7014:Scn7a'
ID 545156
Institutional Source Beutler Lab
Gene Symbol Scn7a
Ensembl Gene ENSMUSG00000034810
Gene Name sodium channel, voltage-gated, type VII, alpha
Synonyms 1110034K09Rik, NaG, Nav2, Nax, Nav2.3, Scn6a
MMRRC Submission 045115-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # R7014 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 66503770-66615254 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 66572303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 223 (G223C)
Ref Sequence ENSEMBL: ENSMUSP00000042405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042792]
AlphaFold B1AYL1
Predicted Effect probably null
Transcript: ENSMUST00000042792
AA Change: G223C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042405
Gene: ENSMUSG00000034810
AA Change: G223C

DomainStartEndE-ValueType
Pfam:Ion_trans 118 405 4.7e-53 PFAM
coiled coil region 415 443 N/A INTRINSIC
Pfam:Ion_trans 505 739 5.8e-36 PFAM
Pfam:Na_trans_assoc 741 929 4.1e-17 PFAM
Pfam:Ion_trans 933 1204 3e-49 PFAM
Pfam:Ion_trans 1250 1505 5e-37 PFAM
IQ 1624 1646 6.4e-2 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a modified dietary preference for NaCl but are phenotypically normal otherwise. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,278,198 (GRCm39) Q156* probably null Het
2700097O09Rik A G 12: 55,092,727 (GRCm39) I264T probably benign Het
Arid3a G T 10: 79,786,718 (GRCm39) M488I possibly damaging Het
Auts2 A G 5: 131,494,961 (GRCm39) F331S probably damaging Het
Axdnd1 T C 1: 156,158,532 (GRCm39) probably null Het
Bpifb5 C A 2: 154,066,876 (GRCm39) S43* probably null Het
Carhsp1 A G 16: 8,478,869 (GRCm39) V128A probably benign Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Cdk6 C G 5: 3,523,152 (GRCm39) L191V probably damaging Het
Cgnl1 T G 9: 71,632,416 (GRCm39) K312Q possibly damaging Het
Col6a1 T C 10: 76,557,277 (GRCm39) E225G probably damaging Het
Copg1 T A 6: 87,879,322 (GRCm39) L456Q probably damaging Het
Ctif T A 18: 75,570,279 (GRCm39) D540V possibly damaging Het
Cyfip1 T C 7: 55,569,241 (GRCm39) I917T probably benign Het
Cyth1 T C 11: 118,103,477 (GRCm39) D9G probably benign Het
Dnajb1 T C 8: 84,336,884 (GRCm39) I118T probably damaging Het
Ebna1bp2 T A 4: 118,480,575 (GRCm39) Y139* probably null Het
Efcab3 A G 11: 104,584,248 (GRCm39) T100A probably benign Het
Fam162a A T 16: 35,870,302 (GRCm39) V59E probably damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fmo6 C G 1: 162,753,877 (GRCm39) R112T probably benign Het
Gm17087 T A 17: 8,785,304 (GRCm39) D133V probably benign Het
Gm42669 A G 5: 107,656,142 (GRCm39) I802V probably benign Het
Gp2 T C 7: 119,050,868 (GRCm39) N288D probably damaging Het
Gstm7 C T 3: 107,834,278 (GRCm39) D196N probably benign Het
Hsph1 A T 5: 149,553,865 (GRCm39) V201D probably damaging Het
Il20ra T C 10: 19,588,458 (GRCm39) L26P unknown Het
Itpr1 T A 6: 108,408,459 (GRCm39) probably null Het
Kcns3 A T 12: 11,141,688 (GRCm39) I337N probably damaging Het
Kdm4d A G 9: 14,375,475 (GRCm39) Y128H probably damaging Het
Kirrel2 A G 7: 30,153,999 (GRCm39) I200T probably benign Het
Klhdc10 T A 6: 30,450,502 (GRCm39) I294N probably damaging Het
Map1a A C 2: 121,130,720 (GRCm39) N512T probably damaging Het
Marchf8 C G 6: 116,380,504 (GRCm39) C118W probably damaging Het
Marchf8 T G 6: 116,380,505 (GRCm39) C119G probably damaging Het
Mrpl38 G T 11: 116,025,741 (GRCm39) P195Q probably damaging Het
Ms4a4d A T 19: 11,525,947 (GRCm39) Q27L probably benign Het
Muc16 T A 9: 18,569,532 (GRCm39) T996S unknown Het
Mug1 C T 6: 121,838,084 (GRCm39) A438V probably benign Het
Mup7 T A 4: 60,069,866 (GRCm39) I33F probably damaging Het
Ndufa5 C T 6: 24,519,190 (GRCm39) probably null Het
Or2b7 A G 13: 21,740,108 (GRCm39) F28S probably benign Het
Or2l5 A T 16: 19,334,206 (GRCm39) F60Y probably benign Het
Or5w17 T C 2: 87,584,215 (GRCm39) I41V probably benign Het
Or5w1b A T 2: 87,476,320 (GRCm39) L49Q probably damaging Het
Or7e177 T A 9: 20,211,959 (GRCm39) C154* probably null Het
Parp9 T A 16: 35,780,433 (GRCm39) probably null Het
Pate8 C A 9: 36,493,854 (GRCm39) W26C unknown Het
Pbx1 T A 1: 168,258,949 (GRCm39) D42V probably damaging Het
Pde4dip G T 3: 97,622,738 (GRCm39) N1490K possibly damaging Het
Pdzd2 T C 15: 12,372,647 (GRCm39) N2496S probably benign Het
Pdzd2 A G 15: 12,373,061 (GRCm39) M2358T probably benign Het
Pglyrp2 C A 17: 32,634,904 (GRCm39) C486F probably damaging Het
Pi4ka A G 16: 17,114,931 (GRCm39) probably benign Het
Pknox2 T A 9: 36,820,963 (GRCm39) T300S probably damaging Het
Plekhm3 A G 1: 64,922,429 (GRCm39) I582T probably damaging Het
Prtg T C 9: 72,799,267 (GRCm39) Y766H possibly damaging Het
Prxl2a T C 14: 40,724,451 (GRCm39) E71G probably benign Het
Rabgap1 A G 2: 37,450,575 (GRCm39) E901G probably benign Het
Rabgap1l A T 1: 160,169,642 (GRCm39) N60K probably damaging Het
Rnf150 C T 8: 83,769,292 (GRCm39) T359I probably benign Het
Rps6ka2 C T 17: 7,523,331 (GRCm39) H236Y probably benign Het
Rrp1b T A 17: 32,268,401 (GRCm39) L120Q probably damaging Het
Sema6a T A 18: 47,431,284 (GRCm39) N138I probably damaging Het
Septin5 T A 16: 18,443,659 (GRCm39) I97F probably damaging Het
Shcbp1 T A 8: 4,804,234 (GRCm39) E225D probably damaging Het
Slc25a19 A G 11: 115,511,792 (GRCm39) C124R probably damaging Het
Slc37a2 C T 9: 37,145,183 (GRCm39) A428T probably damaging Het
Slc5a12 A G 2: 110,474,709 (GRCm39) I538V probably benign Het
Slco4c1 A T 1: 96,751,506 (GRCm39) probably null Het
Smarcad1 T C 6: 65,029,654 (GRCm39) S81P probably damaging Het
Smyd1 T C 6: 71,215,611 (GRCm39) D116G probably damaging Het
Themis T C 10: 28,665,703 (GRCm39) Y589H probably benign Het
Trim30d T C 7: 104,132,543 (GRCm39) K248R probably benign Het
Tspan12 C T 6: 21,772,918 (GRCm39) M210I probably benign Het
Vmn2r11 T C 5: 109,201,289 (GRCm39) Y405C probably damaging Het
Wdfy3 A G 5: 102,042,775 (GRCm39) probably null Het
Wiz C A 17: 32,580,840 (GRCm39) A83S probably damaging Het
Zfp1002 A T 2: 150,097,182 (GRCm39) C82* probably null Het
Zmym6 T A 4: 127,017,337 (GRCm39) Y947* probably null Het
Other mutations in Scn7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Scn7a APN 2 66,513,671 (GRCm39) splice site probably benign
IGL00432:Scn7a APN 2 66,572,326 (GRCm39) nonsense probably null
IGL00720:Scn7a APN 2 66,506,388 (GRCm39) missense possibly damaging 0.67
IGL00783:Scn7a APN 2 66,522,908 (GRCm39) missense probably damaging 0.99
IGL00784:Scn7a APN 2 66,522,908 (GRCm39) missense probably damaging 0.99
IGL00926:Scn7a APN 2 66,514,475 (GRCm39) missense probably benign 0.06
IGL00963:Scn7a APN 2 66,534,289 (GRCm39) splice site probably benign
IGL01099:Scn7a APN 2 66,514,582 (GRCm39) missense probably damaging 1.00
IGL01326:Scn7a APN 2 66,582,604 (GRCm39) missense probably benign 0.13
IGL01538:Scn7a APN 2 66,534,196 (GRCm39) missense probably benign
IGL01624:Scn7a APN 2 66,582,269 (GRCm39) missense probably benign 0.07
IGL01794:Scn7a APN 2 66,505,853 (GRCm39) missense probably benign
IGL02100:Scn7a APN 2 66,505,843 (GRCm39) makesense probably null
IGL02326:Scn7a APN 2 66,530,392 (GRCm39) missense probably benign 0.00
IGL02472:Scn7a APN 2 66,582,658 (GRCm39) missense probably damaging 1.00
IGL02528:Scn7a APN 2 66,530,519 (GRCm39) missense probably damaging 1.00
IGL02798:Scn7a APN 2 66,544,219 (GRCm39) missense probably benign 0.00
IGL03026:Scn7a APN 2 66,506,442 (GRCm39) missense probably damaging 0.99
IGL03071:Scn7a APN 2 66,530,291 (GRCm39) missense possibly damaging 0.89
IGL03080:Scn7a APN 2 66,528,160 (GRCm39) missense probably benign 0.01
IGL03180:Scn7a APN 2 66,506,578 (GRCm39) missense possibly damaging 0.94
IGL03337:Scn7a APN 2 66,506,304 (GRCm39) missense probably benign 0.00
alert UTSW 2 66,510,590 (GRCm39) nonsense probably null
glimmer UTSW 2 66,574,047 (GRCm39) missense probably damaging 0.96
Uptick UTSW 2 66,530,393 (GRCm39) nonsense probably null
PIT4514001:Scn7a UTSW 2 66,514,523 (GRCm39) missense probably damaging 1.00
R0004:Scn7a UTSW 2 66,518,139 (GRCm39) missense possibly damaging 0.81
R0076:Scn7a UTSW 2 66,544,381 (GRCm39) missense probably benign 0.04
R0230:Scn7a UTSW 2 66,556,628 (GRCm39) missense probably damaging 1.00
R0463:Scn7a UTSW 2 66,506,084 (GRCm39) missense probably benign 0.05
R0846:Scn7a UTSW 2 66,527,944 (GRCm39) missense possibly damaging 0.71
R1237:Scn7a UTSW 2 66,510,639 (GRCm39) missense probably damaging 0.98
R1282:Scn7a UTSW 2 66,531,193 (GRCm39) missense probably damaging 0.98
R1467:Scn7a UTSW 2 66,519,902 (GRCm39) missense probably benign 0.01
R1467:Scn7a UTSW 2 66,519,902 (GRCm39) missense probably benign 0.01
R1501:Scn7a UTSW 2 66,530,507 (GRCm39) missense probably benign 0.37
R1672:Scn7a UTSW 2 66,527,944 (GRCm39) missense possibly damaging 0.71
R1690:Scn7a UTSW 2 66,506,287 (GRCm39) missense probably damaging 0.99
R1712:Scn7a UTSW 2 66,535,447 (GRCm39) missense probably benign 0.05
R1758:Scn7a UTSW 2 66,531,231 (GRCm39) missense probably damaging 0.97
R1758:Scn7a UTSW 2 66,510,527 (GRCm39) missense probably benign 0.00
R1775:Scn7a UTSW 2 66,511,299 (GRCm39) missense probably benign 0.02
R1848:Scn7a UTSW 2 66,514,357 (GRCm39) critical splice donor site probably null
R1851:Scn7a UTSW 2 66,510,635 (GRCm39) missense probably benign
R1919:Scn7a UTSW 2 66,530,317 (GRCm39) missense probably damaging 1.00
R1932:Scn7a UTSW 2 66,506,446 (GRCm39) missense probably damaging 1.00
R1945:Scn7a UTSW 2 66,506,324 (GRCm39) missense probably damaging 1.00
R1970:Scn7a UTSW 2 66,514,633 (GRCm39) missense possibly damaging 0.89
R1998:Scn7a UTSW 2 66,513,613 (GRCm39) missense probably damaging 0.99
R2008:Scn7a UTSW 2 66,518,091 (GRCm39) missense possibly damaging 0.82
R2038:Scn7a UTSW 2 66,567,780 (GRCm39) missense probably damaging 1.00
R2113:Scn7a UTSW 2 66,506,312 (GRCm39) missense probably damaging 1.00
R2128:Scn7a UTSW 2 66,528,330 (GRCm39) missense probably damaging 0.99
R2163:Scn7a UTSW 2 66,506,300 (GRCm39) missense probably damaging 0.97
R2421:Scn7a UTSW 2 66,556,646 (GRCm39) splice site probably benign
R2446:Scn7a UTSW 2 66,523,002 (GRCm39) missense probably damaging 0.98
R2922:Scn7a UTSW 2 66,530,551 (GRCm39) splice site probably benign
R3015:Scn7a UTSW 2 66,530,240 (GRCm39) missense probably benign 0.08
R3034:Scn7a UTSW 2 66,513,152 (GRCm39) missense probably damaging 1.00
R3419:Scn7a UTSW 2 66,531,239 (GRCm39) frame shift probably null
R3429:Scn7a UTSW 2 66,531,239 (GRCm39) frame shift probably null
R3430:Scn7a UTSW 2 66,531,239 (GRCm39) frame shift probably null
R3434:Scn7a UTSW 2 66,505,847 (GRCm39) missense probably benign 0.01
R3803:Scn7a UTSW 2 66,510,590 (GRCm39) nonsense probably null
R3831:Scn7a UTSW 2 66,528,028 (GRCm39) missense probably damaging 0.96
R3833:Scn7a UTSW 2 66,528,028 (GRCm39) missense probably damaging 0.96
R4017:Scn7a UTSW 2 66,572,329 (GRCm39) missense probably damaging 1.00
R4244:Scn7a UTSW 2 66,572,345 (GRCm39) missense probably benign 0.00
R4245:Scn7a UTSW 2 66,572,345 (GRCm39) missense probably benign 0.00
R4276:Scn7a UTSW 2 66,514,407 (GRCm39) missense probably damaging 0.97
R4307:Scn7a UTSW 2 66,506,099 (GRCm39) missense possibly damaging 0.47
R4327:Scn7a UTSW 2 66,567,815 (GRCm39) missense probably damaging 1.00
R4353:Scn7a UTSW 2 66,506,780 (GRCm39) missense probably benign 0.00
R4721:Scn7a UTSW 2 66,514,529 (GRCm39) missense probably damaging 1.00
R4722:Scn7a UTSW 2 66,531,228 (GRCm39) missense possibly damaging 0.95
R4781:Scn7a UTSW 2 66,534,104 (GRCm39) missense possibly damaging 0.95
R4792:Scn7a UTSW 2 66,556,592 (GRCm39) missense probably damaging 1.00
R5362:Scn7a UTSW 2 66,530,342 (GRCm39) missense probably damaging 1.00
R5437:Scn7a UTSW 2 66,506,690 (GRCm39) missense probably damaging 1.00
R5729:Scn7a UTSW 2 66,572,301 (GRCm39) critical splice donor site probably null
R5777:Scn7a UTSW 2 66,522,913 (GRCm39) missense probably damaging 1.00
R5785:Scn7a UTSW 2 66,527,912 (GRCm39) missense possibly damaging 0.79
R5821:Scn7a UTSW 2 66,574,047 (GRCm39) missense probably damaging 0.96
R5830:Scn7a UTSW 2 66,544,395 (GRCm39) nonsense probably null
R5877:Scn7a UTSW 2 66,530,217 (GRCm39) nonsense probably null
R5881:Scn7a UTSW 2 66,505,870 (GRCm39) missense probably benign 0.01
R5967:Scn7a UTSW 2 66,506,057 (GRCm39) missense probably damaging 1.00
R5988:Scn7a UTSW 2 66,556,558 (GRCm39) nonsense probably null
R6077:Scn7a UTSW 2 66,527,940 (GRCm39) missense probably damaging 1.00
R6135:Scn7a UTSW 2 66,534,244 (GRCm39) missense probably benign
R6242:Scn7a UTSW 2 66,531,110 (GRCm39) missense probably benign 0.00
R6264:Scn7a UTSW 2 66,505,870 (GRCm39) missense possibly damaging 0.93
R6291:Scn7a UTSW 2 66,530,458 (GRCm39) missense probably damaging 0.98
R6544:Scn7a UTSW 2 66,514,444 (GRCm39) missense probably damaging 1.00
R6770:Scn7a UTSW 2 66,559,528 (GRCm39) splice site probably null
R6997:Scn7a UTSW 2 66,534,147 (GRCm39) missense probably damaging 1.00
R7126:Scn7a UTSW 2 66,587,630 (GRCm39) missense possibly damaging 0.80
R7129:Scn7a UTSW 2 66,530,537 (GRCm39) missense probably benign 0.14
R7176:Scn7a UTSW 2 66,506,632 (GRCm39) missense probably damaging 1.00
R7185:Scn7a UTSW 2 66,518,139 (GRCm39) missense possibly damaging 0.81
R7276:Scn7a UTSW 2 66,587,506 (GRCm39) missense probably damaging 1.00
R7332:Scn7a UTSW 2 66,522,898 (GRCm39) nonsense probably null
R7421:Scn7a UTSW 2 66,505,876 (GRCm39) missense probably benign 0.07
R7488:Scn7a UTSW 2 66,587,574 (GRCm39) missense probably benign 0.16
R7636:Scn7a UTSW 2 66,574,172 (GRCm39) missense possibly damaging 0.67
R7685:Scn7a UTSW 2 66,506,536 (GRCm39) missense probably damaging 1.00
R7711:Scn7a UTSW 2 66,531,221 (GRCm39) missense probably damaging 1.00
R7813:Scn7a UTSW 2 66,506,689 (GRCm39) missense probably damaging 1.00
R7833:Scn7a UTSW 2 66,506,494 (GRCm39) missense probably damaging 1.00
R7914:Scn7a UTSW 2 66,530,294 (GRCm39) missense probably damaging 0.97
R7953:Scn7a UTSW 2 66,587,670 (GRCm39) missense possibly damaging 0.90
R7970:Scn7a UTSW 2 66,506,173 (GRCm39) missense probably damaging 1.00
R8061:Scn7a UTSW 2 66,522,938 (GRCm39) missense probably damaging 1.00
R8121:Scn7a UTSW 2 66,531,203 (GRCm39) missense probably damaging 1.00
R8172:Scn7a UTSW 2 66,506,191 (GRCm39) missense possibly damaging 0.90
R8209:Scn7a UTSW 2 66,531,204 (GRCm39) missense possibly damaging 0.88
R8226:Scn7a UTSW 2 66,531,204 (GRCm39) missense possibly damaging 0.88
R8288:Scn7a UTSW 2 66,506,318 (GRCm39) missense probably damaging 1.00
R8431:Scn7a UTSW 2 66,534,164 (GRCm39) missense possibly damaging 0.62
R8678:Scn7a UTSW 2 66,574,041 (GRCm39) splice site probably benign
R8745:Scn7a UTSW 2 66,510,526 (GRCm39) missense probably benign
R8781:Scn7a UTSW 2 66,567,775 (GRCm39) missense probably benign 0.03
R8848:Scn7a UTSW 2 66,530,393 (GRCm39) nonsense probably null
R8878:Scn7a UTSW 2 66,506,199 (GRCm39) missense probably damaging 1.00
R8943:Scn7a UTSW 2 66,525,206 (GRCm39) synonymous silent
R8991:Scn7a UTSW 2 66,514,588 (GRCm39) missense possibly damaging 0.65
R9147:Scn7a UTSW 2 66,514,507 (GRCm39) missense possibly damaging 0.89
R9148:Scn7a UTSW 2 66,514,507 (GRCm39) missense possibly damaging 0.89
R9402:Scn7a UTSW 2 66,510,456 (GRCm39) missense probably damaging 1.00
R9501:Scn7a UTSW 2 66,582,579 (GRCm39) missense probably benign 0.00
R9546:Scn7a UTSW 2 66,582,603 (GRCm39) missense possibly damaging 0.93
R9715:Scn7a UTSW 2 66,519,902 (GRCm39) missense possibly damaging 0.93
X0060:Scn7a UTSW 2 66,520,026 (GRCm39) missense probably benign 0.01
X0066:Scn7a UTSW 2 66,510,536 (GRCm39) missense probably benign
Z1088:Scn7a UTSW 2 66,544,295 (GRCm39) missense probably damaging 0.98
Z1177:Scn7a UTSW 2 66,582,613 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACTGGTTTCTTGGTGAAAGGAG -3'
(R):5'- TCTAGAGTGGAATCATGGGAGC -3'

Sequencing Primer
(F):5'- AGAATCTATCTCTGCTATCCATTGAG -3'
(R):5'- TCATGGGAGCAAGGAATATCC -3'
Posted On 2019-05-13