Incidental Mutation 'IGL01155:Scn2a'
ID 50666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scn2a
Ensembl Gene ENSMUSG00000075318
Gene Name sodium channel, voltage-gated, type II, alpha
Synonyms A230052E19Rik, Scn2a1, Nav1.2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01155
Quality Score
Status
Chromosome 2
Chromosomal Location 65620771-65767447 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65717748 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 66 (S66A)
Ref Sequence ENSEMBL: ENSMUSP00000143958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028377] [ENSMUST00000100067] [ENSMUST00000200829] [ENSMUST00000202508]
AlphaFold B1AWN6
Predicted Effect probably damaging
Transcript: ENSMUST00000028377
AA Change: S1095A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028377
Gene: ENSMUSG00000075318
AA Change: S1095A

DomainStartEndE-ValueType
Pfam:Ion_trans 128 436 2.2e-81 PFAM
low complexity region 450 471 N/A INTRINSIC
Pfam:Na_trans_cytopl 505 710 9.6e-83 PFAM
Pfam:Ion_trans 759 994 3.6e-57 PFAM
Pfam:Na_trans_assoc 998 1204 1.7e-63 PFAM
Pfam:Ion_trans 1208 1484 3.3e-66 PFAM
Pfam:Ion_trans 1531 1788 2.8e-57 PFAM
Pfam:PKD_channel 1627 1782 8.6e-7 PFAM
IQ 1905 1927 3.59e-3 SMART
low complexity region 1967 1975 N/A INTRINSIC
low complexity region 1981 2000 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100067
AA Change: S1095A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097645
Gene: ENSMUSG00000075318
AA Change: S1095A

DomainStartEndE-ValueType
Pfam:Ion_trans 157 424 3.3e-75 PFAM
low complexity region 433 448 N/A INTRINSIC
low complexity region 450 471 N/A INTRINSIC
Pfam:DUF3451 488 711 2.6e-66 PFAM
Pfam:Ion_trans 794 983 1.1e-47 PFAM
Pfam:Na_trans_assoc 998 1219 3.5e-77 PFAM
Pfam:Ion_trans 1245 1473 4.4e-55 PFAM
PDB:1BYY|A 1475 1527 3e-31 PDB
Pfam:Ion_trans 1566 1776 2.4e-52 PFAM
Pfam:PKD_channel 1628 1783 3.6e-7 PFAM
IQ 1905 1927 3.59e-3 SMART
low complexity region 1967 1975 N/A INTRINSIC
low complexity region 1981 2000 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000200829
AA Change: S1095A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143882
Gene: ENSMUSG00000075318
AA Change: S1095A

DomainStartEndE-ValueType
Pfam:Ion_trans 128 436 1.2e-79 PFAM
low complexity region 450 471 N/A INTRINSIC
Pfam:Na_trans_cytopl 505 710 7.1e-80 PFAM
Pfam:Ion_trans 759 994 2.1e-55 PFAM
Pfam:Na_trans_assoc 998 1204 8e-61 PFAM
Pfam:Ion_trans 1208 1484 1.9e-64 PFAM
Pfam:Ion_trans 1531 1788 1.6e-55 PFAM
Pfam:PKD_channel 1627 1782 1.2e-4 PFAM
IQ 1905 1927 1.8e-5 SMART
low complexity region 1967 1975 N/A INTRINSIC
low complexity region 1981 2000 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000202162
AA Change: S58A
Predicted Effect probably damaging
Transcript: ENSMUST00000202508
AA Change: S66A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143958
Gene: ENSMUSG00000075318
AA Change: S66A

DomainStartEndE-ValueType
Pfam:Na_trans_assoc 1 106 1.9e-19 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels 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. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygotes for a targeted mutation exhibit excess neuronal apoptosis (especially in the brainstem), reduced neuronal sodium channel currents in vitro, and severe hypoxia resulting in neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 (GRCm38) V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 (GRCm38) I409N probably benign Het
Akap13 A G 7: 75,569,936 (GRCm38) D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 (GRCm38) T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 (GRCm38) probably benign Het
Asic5 A G 3: 82,008,588 (GRCm38) T282A probably benign Het
Bptf T C 11: 107,080,727 (GRCm38) T985A probably damaging Het
Btnl9 A G 11: 49,175,691 (GRCm38) F349L probably damaging Het
Bves T A 10: 45,353,859 (GRCm38) I253K probably damaging Het
Cars1 T A 7: 143,569,849 (GRCm38) Y455F probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm38) S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 (GRCm38) V15F probably damaging Het
Defa22 T A 8: 21,163,037 (GRCm38) probably null Het
Fat1 G A 8: 45,023,949 (GRCm38) A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 (GRCm38) T533I probably benign Het
Gm1043 T C 5: 37,187,089 (GRCm38) L182P probably damaging Het
Ice1 A T 13: 70,604,082 (GRCm38) V1295E possibly damaging Het
Il12b T A 11: 44,404,088 (GRCm38) S18T probably benign Het
Iqcg A G 16: 33,040,875 (GRCm38) V157A probably damaging Het
Itgax T A 7: 128,145,035 (GRCm38) M937K probably benign Het
Large1 T C 8: 73,131,989 (GRCm38) S84G probably benign Het
Lrp1b T C 2: 41,770,935 (GRCm38) T54A probably benign Het
Mfn1 A G 3: 32,542,836 (GRCm38) M148V probably damaging Het
Mobp C A 9: 120,168,234 (GRCm38) T73K probably benign Het
Ms4a3 T C 19: 11,629,655 (GRCm38) probably benign Het
Muc5ac C T 7: 141,806,943 (GRCm38) probably benign Het
Mzt2 A C 16: 15,862,410 (GRCm38) S104A possibly damaging Het
Naa16 T A 14: 79,384,715 (GRCm38) K27N probably damaging Het
Nos1 T A 5: 117,945,926 (GRCm38) I1267N probably damaging Het
Or10j5 T A 1: 172,956,924 (GRCm38) I43N probably benign Het
Rara A G 11: 98,968,184 (GRCm38) E153G possibly damaging Het
Slc6a1 A T 6: 114,314,465 (GRCm38) probably null Het
Sorbs3 A G 14: 70,199,341 (GRCm38) V136A probably damaging Het
Spink5 T A 18: 43,981,147 (GRCm38) H143Q probably benign Het
Susd2 G A 10: 75,640,892 (GRCm38) T99I possibly damaging Het
T C T 17: 8,441,745 (GRCm38) probably null Het
Tac2 G A 10: 127,726,134 (GRCm38) probably null Het
Tfap4 G T 16: 4,547,359 (GRCm38) P180T probably damaging Het
Trap1 G A 16: 4,043,978 (GRCm38) Q641* probably null Het
Unc119 A G 11: 78,348,609 (GRCm38) N252S probably damaging Het
Other mutations in Scn2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Scn2a APN 2 65,764,440 (GRCm38) missense probably benign
IGL00159:Scn2a APN 2 65,743,090 (GRCm38) missense probably damaging 1.00
IGL00418:Scn2a APN 2 65,764,522 (GRCm38) missense probably benign 0.43
IGL00753:Scn2a APN 2 65,683,863 (GRCm38) missense possibly damaging 0.66
IGL00770:Scn2a APN 2 65,735,853 (GRCm38) missense probably damaging 1.00
IGL00774:Scn2a APN 2 65,735,853 (GRCm38) missense probably damaging 1.00
IGL00847:Scn2a APN 2 65,670,734 (GRCm38) missense probably damaging 1.00
IGL01329:Scn2a APN 2 65,717,508 (GRCm38) missense probably benign 0.05
IGL01537:Scn2a APN 2 65,715,875 (GRCm38) missense probably benign 0.00
IGL01672:Scn2a APN 2 65,751,934 (GRCm38) missense probably damaging 1.00
IGL01958:Scn2a APN 2 65,701,829 (GRCm38) missense probably damaging 1.00
IGL02028:Scn2a APN 2 65,763,658 (GRCm38) missense probably damaging 0.96
IGL02142:Scn2a APN 2 65,715,838 (GRCm38) missense probably damaging 1.00
IGL02160:Scn2a APN 2 65,730,116 (GRCm38) missense probably damaging 1.00
IGL02183:Scn2a APN 2 65,671,603 (GRCm38) missense probably benign 0.20
IGL02341:Scn2a APN 2 65,688,377 (GRCm38) missense probably damaging 1.00
IGL02504:Scn2a APN 2 65,683,884 (GRCm38) missense probably benign 0.02
IGL02530:Scn2a APN 2 65,730,178 (GRCm38) missense probably damaging 0.99
IGL02621:Scn2a APN 2 65,748,879 (GRCm38) splice site probably benign
IGL02652:Scn2a APN 2 65,702,038 (GRCm38) missense possibly damaging 0.82
IGL02966:Scn2a APN 2 65,701,844 (GRCm38) missense possibly damaging 0.93
IGL03188:Scn2a APN 2 65,671,653 (GRCm38) missense probably damaging 0.99
IGL03329:Scn2a APN 2 65,764,629 (GRCm38) missense probably benign
IGL03336:Scn2a APN 2 65,688,744 (GRCm38) missense probably damaging 1.00
IGL03391:Scn2a APN 2 65,764,213 (GRCm38) missense probably damaging 1.00
PIT4280001:Scn2a UTSW 2 65,715,730 (GRCm38) missense probably damaging 1.00
PIT4362001:Scn2a UTSW 2 65,683,838 (GRCm38) missense probably benign 0.09
PIT4403001:Scn2a UTSW 2 65,711,908 (GRCm38) missense probably damaging 1.00
PIT4520001:Scn2a UTSW 2 65,688,419 (GRCm38) missense probably damaging 1.00
R0021:Scn2a UTSW 2 65,670,515 (GRCm38) missense possibly damaging 0.51
R0141:Scn2a UTSW 2 65,711,816 (GRCm38) missense probably benign 0.01
R0240:Scn2a UTSW 2 65,735,774 (GRCm38) missense probably benign 0.32
R0240:Scn2a UTSW 2 65,735,774 (GRCm38) missense probably benign 0.32
R0335:Scn2a UTSW 2 65,682,091 (GRCm38) missense probably damaging 1.00
R0508:Scn2a UTSW 2 65,717,842 (GRCm38) missense probably damaging 0.99
R0558:Scn2a UTSW 2 65,711,925 (GRCm38) missense probably benign 0.26
R0600:Scn2a UTSW 2 65,701,833 (GRCm38) missense possibly damaging 0.90
R0667:Scn2a UTSW 2 65,751,996 (GRCm38) missense possibly damaging 0.91
R1178:Scn2a UTSW 2 65,686,779 (GRCm38) splice site probably benign
R1244:Scn2a UTSW 2 65,763,655 (GRCm38) missense probably damaging 0.98
R1386:Scn2a UTSW 2 65,688,741 (GRCm38) missense probably damaging 1.00
R1434:Scn2a UTSW 2 65,701,991 (GRCm38) missense possibly damaging 0.79
R1440:Scn2a UTSW 2 65,764,594 (GRCm38) missense probably benign
R1448:Scn2a UTSW 2 65,683,845 (GRCm38) missense probably benign 0.17
R1460:Scn2a UTSW 2 65,701,843 (GRCm38) missense probably damaging 0.96
R1553:Scn2a UTSW 2 65,713,836 (GRCm38) nonsense probably null
R1642:Scn2a UTSW 2 65,683,697 (GRCm38) missense probably damaging 1.00
R1803:Scn2a UTSW 2 65,670,767 (GRCm38) splice site probably null
R1981:Scn2a UTSW 2 65,690,170 (GRCm38) missense probably damaging 1.00
R2002:Scn2a UTSW 2 65,682,083 (GRCm38) missense probably null 1.00
R2068:Scn2a UTSW 2 65,752,073 (GRCm38) missense probably benign 0.14
R2125:Scn2a UTSW 2 65,752,079 (GRCm38) nonsense probably null
R2126:Scn2a UTSW 2 65,752,079 (GRCm38) nonsense probably null
R2876:Scn2a UTSW 2 65,715,897 (GRCm38) missense possibly damaging 0.64
R2878:Scn2a UTSW 2 65,688,371 (GRCm38) missense probably damaging 1.00
R3113:Scn2a UTSW 2 65,748,785 (GRCm38) missense possibly damaging 0.86
R3749:Scn2a UTSW 2 65,713,771 (GRCm38) missense probably damaging 1.00
R3750:Scn2a UTSW 2 65,713,771 (GRCm38) missense probably damaging 1.00
R3765:Scn2a UTSW 2 65,682,710 (GRCm38) missense possibly damaging 0.51
R3850:Scn2a UTSW 2 65,682,031 (GRCm38) missense probably benign 0.14
R4585:Scn2a UTSW 2 65,743,051 (GRCm38) splice site probably null
R4586:Scn2a UTSW 2 65,743,051 (GRCm38) splice site probably null
R4588:Scn2a UTSW 2 65,713,767 (GRCm38) missense possibly damaging 0.76
R4622:Scn2a UTSW 2 65,752,027 (GRCm38) missense probably benign 0.04
R5108:Scn2a UTSW 2 65,688,630 (GRCm38) missense probably damaging 1.00
R5161:Scn2a UTSW 2 65,764,591 (GRCm38) missense probably benign 0.00
R5235:Scn2a UTSW 2 65,752,011 (GRCm38) missense probably damaging 1.00
R5464:Scn2a UTSW 2 65,701,756 (GRCm38) missense probably damaging 1.00
R5586:Scn2a UTSW 2 65,707,295 (GRCm38) nonsense probably null
R5630:Scn2a UTSW 2 65,726,365 (GRCm38) missense probably damaging 1.00
R5715:Scn2a UTSW 2 65,717,584 (GRCm38) missense probably benign 0.27
R5730:Scn2a UTSW 2 65,682,538 (GRCm38) nonsense probably null
R5734:Scn2a UTSW 2 65,717,722 (GRCm38) missense possibly damaging 0.49
R5779:Scn2a UTSW 2 65,764,483 (GRCm38) missense probably benign 0.00
R6133:Scn2a UTSW 2 65,743,104 (GRCm38) missense probably benign 0.35
R6547:Scn2a UTSW 2 65,715,897 (GRCm38) missense probably benign 0.29
R6549:Scn2a UTSW 2 65,764,674 (GRCm38) missense probably benign 0.05
R6818:Scn2a UTSW 2 65,688,669 (GRCm38) nonsense probably null
R6999:Scn2a UTSW 2 65,682,109 (GRCm38) missense probably benign
R7069:Scn2a UTSW 2 65,764,606 (GRCm38) missense probably benign 0.00
R7073:Scn2a UTSW 2 65,728,443 (GRCm38) missense probably benign 0.00
R7125:Scn2a UTSW 2 65,763,933 (GRCm38) missense probably damaging 1.00
R7178:Scn2a UTSW 2 65,748,853 (GRCm38) nonsense probably null
R7179:Scn2a UTSW 2 65,701,979 (GRCm38) missense probably damaging 1.00
R7203:Scn2a UTSW 2 65,748,319 (GRCm38) missense probably benign 0.01
R7227:Scn2a UTSW 2 65,752,023 (GRCm38) missense probably damaging 0.98
R7269:Scn2a UTSW 2 65,763,769 (GRCm38) missense probably damaging 1.00
R7358:Scn2a UTSW 2 65,682,506 (GRCm38) nonsense probably null
R7388:Scn2a UTSW 2 65,688,654 (GRCm38) missense probably damaging 1.00
R7491:Scn2a UTSW 2 65,702,008 (GRCm38) missense probably damaging 0.99
R7619:Scn2a UTSW 2 65,715,903 (GRCm38) missense probably damaging 1.00
R7695:Scn2a UTSW 2 65,711,907 (GRCm38) missense probably damaging 0.99
R7735:Scn2a UTSW 2 65,763,669 (GRCm38) missense probably benign 0.40
R7911:Scn2a UTSW 2 65,682,083 (GRCm38) missense probably null 1.00
R8096:Scn2a UTSW 2 65,764,022 (GRCm38) missense probably damaging 0.98
R8172:Scn2a UTSW 2 65,690,328 (GRCm38) missense probably benign 0.01
R8220:Scn2a UTSW 2 65,690,276 (GRCm38) missense probably benign 0.01
R8333:Scn2a UTSW 2 65,683,847 (GRCm38) missense probably benign 0.01
R8416:Scn2a UTSW 2 65,681,001 (GRCm38) missense probably benign 0.00
R8850:Scn2a UTSW 2 65,688,386 (GRCm38) missense probably damaging 1.00
R8897:Scn2a UTSW 2 65,715,658 (GRCm38) critical splice acceptor site probably null
R8977:Scn2a UTSW 2 65,763,670 (GRCm38) missense probably damaging 0.99
R8992:Scn2a UTSW 2 65,763,898 (GRCm38) missense probably damaging 1.00
R9190:Scn2a UTSW 2 65,681,002 (GRCm38) missense probably benign 0.00
R9206:Scn2a UTSW 2 65,717,787 (GRCm38) missense probably damaging 1.00
R9355:Scn2a UTSW 2 65,764,089 (GRCm38) missense probably damaging 1.00
R9452:Scn2a UTSW 2 65,764,819 (GRCm38) missense probably benign
R9529:Scn2a UTSW 2 65,764,588 (GRCm38) missense probably damaging 0.99
R9567:Scn2a UTSW 2 65,688,630 (GRCm38) missense probably damaging 1.00
R9569:Scn2a UTSW 2 65,730,278 (GRCm38) missense probably damaging 1.00
R9657:Scn2a UTSW 2 65,735,688 (GRCm38) missense probably damaging 1.00
R9715:Scn2a UTSW 2 65,748,805 (GRCm38) missense possibly damaging 0.93
R9761:Scn2a UTSW 2 65,735,686 (GRCm38) missense probably damaging 1.00
Z1176:Scn2a UTSW 2 65,751,868 (GRCm38) missense possibly damaging 0.84
Z1177:Scn2a UTSW 2 65,717,735 (GRCm38) missense probably benign 0.07
Posted On 2013-06-21