Incidental Mutation 'R7993:Scn3b'
ID 651874
Institutional Source Beutler Lab
Gene Symbol Scn3b
Ensembl Gene ENSMUSG00000049281
Gene Name sodium channel, voltage-gated, type III, beta
Synonyms 4833414B02Rik, 1110001K16Rik
MMRRC Submission 046034-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7993 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40180513-40202914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40193840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 189 (E189G)
Ref Sequence ENSEMBL: ENSMUSP00000051627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049941] [ENSMUST00000114956] [ENSMUST00000171835] [ENSMUST00000176185] [ENSMUST00000216398]
AlphaFold Q8BHK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000049941
AA Change: E189G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051627
Gene: ENSMUSG00000049281
AA Change: E189G

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114956
AA Change: E189G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110606
Gene: ENSMUSG00000049281
AA Change: E189G

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171835
AA Change: E189G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132933
Gene: ENSMUSG00000049281
AA Change: E189G

DomainStartEndE-ValueType
IG 30 140 5.08e-5 SMART
transmembrane domain 153 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176185
AA Change: E149G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135096
Gene: ENSMUSG00000049281
AA Change: E149G

DomainStartEndE-ValueType
Pfam:ig 1 82 1.1e-5 PFAM
Pfam:V-set 1 102 1.8e-14 PFAM
transmembrane domain 113 135 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176547
AA Change: E93G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216398
AA Change: E31G

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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 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 beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a ventricular arrhythmogenic phenotype with abnormal heart electrocardiography waveform features and sodium channel function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,803,231 (GRCm39) V689D possibly damaging Het
Adamts17 T C 7: 66,499,612 (GRCm39) V53A possibly damaging Het
Adcy9 T C 16: 4,235,866 (GRCm39) N515S probably damaging Het
Aoc1l3 T A 6: 48,964,542 (GRCm39) N183K possibly damaging Het
Atp1a2 A G 1: 172,118,878 (GRCm39) V88A possibly damaging Het
Atp1a3 T C 7: 24,700,406 (GRCm39) probably null Het
Baz2a T C 10: 127,961,491 (GRCm39) F1706L probably benign Het
Cacnb2 A C 2: 14,968,731 (GRCm39) N199T probably benign Het
Caskin1 T A 17: 24,718,279 (GRCm39) Y296* probably null Het
Cemip C A 7: 83,613,383 (GRCm39) G605V probably damaging Het
Ciart T A 3: 95,786,206 (GRCm39) K290* probably null Het
Cideb G T 14: 55,995,899 (GRCm39) probably benign Het
Copg2 A T 6: 30,793,097 (GRCm39) Y413N probably damaging Het
Csrp1 T A 1: 135,674,453 (GRCm39) probably null Het
Cyp2j8 C T 4: 96,335,456 (GRCm39) probably null Het
Dcbld1 T A 10: 52,137,884 (GRCm39) Y49* probably null Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Exoc2 A G 13: 31,090,713 (GRCm39) probably null Het
Fcho2 A T 13: 98,888,524 (GRCm39) probably null Het
Foxd3 C T 4: 99,544,841 (GRCm39) probably benign Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gipc3 T C 10: 81,173,805 (GRCm39) D269G probably damaging Het
Gm4861 G A 3: 137,256,417 (GRCm39) T63M probably damaging Het
Hmga1b C A 11: 120,653,833 (GRCm39) A40E probably damaging Het
Hydin T A 8: 111,306,264 (GRCm39) M3889K probably benign Het
Inhca T A 9: 103,140,332 (GRCm39) K462N probably benign Het
Klk14 T A 7: 43,344,367 (GRCm39) M226K probably benign Het
Liph T G 16: 21,777,562 (GRCm39) M413L probably benign Het
Lrrc37a T C 11: 103,348,787 (GRCm39) D2636G unknown Het
Lrrk1 G A 7: 65,912,202 (GRCm39) T1786M probably benign Het
Map1a A G 2: 121,135,057 (GRCm39) S1958G possibly damaging Het
Msto1 A G 3: 88,817,481 (GRCm39) F484S probably benign Het
Muc2 C T 7: 141,308,173 (GRCm39) H890Y Het
Nectin3 T C 16: 46,279,184 (GRCm39) I265V probably benign Het
Nectin4 C T 1: 171,211,322 (GRCm39) T282I probably damaging Het
Nfat5 T A 8: 108,082,134 (GRCm39) probably null Het
Nsmaf T C 4: 6,398,647 (GRCm39) D819G probably benign Het
Or8b8 A T 9: 37,808,633 (GRCm39) probably benign Het
Pcdhb1 A T 18: 37,400,044 (GRCm39) D665V probably damaging Het
Pkd1l1 T C 11: 8,895,262 (GRCm39) D616G Het
Plppr2 A T 9: 21,858,258 (GRCm39) H286L probably damaging Het
Polrmt T C 10: 79,572,085 (GRCm39) T1203A probably damaging Het
Ppm1d T A 11: 85,217,777 (GRCm39) V180E probably damaging Het
Ppp1r18 T A 17: 36,184,718 (GRCm39) I551N probably benign Het
Psg28 C T 7: 18,160,401 (GRCm39) C265Y possibly damaging Het
Psmc1 A G 12: 100,081,824 (GRCm39) D142G probably benign Het
Rabgap1l G T 1: 160,528,424 (GRCm39) A394E probably damaging Het
Rbm48 G A 5: 3,640,470 (GRCm39) P303L probably benign Het
Rnf167 T C 11: 70,540,821 (GRCm39) V185A probably benign Het
Ros1 T A 10: 51,999,443 (GRCm39) Q1169L probably benign Het
Rrp1b A G 17: 32,277,541 (GRCm39) D607G probably damaging Het
Scamp1 A G 13: 94,366,294 (GRCm39) Y134H probably damaging Het
Scfd1 G A 12: 51,492,490 (GRCm39) E600K probably damaging Het
Scn4b G T 9: 45,059,007 (GRCm39) V93L probably benign Het
Serpina3i A T 12: 104,231,407 (GRCm39) T15S possibly damaging Het
Slc2a13 A T 15: 91,296,356 (GRCm39) C319* probably null Het
Tdrd1 A G 19: 56,854,437 (GRCm39) probably null Het
Tep1 T A 14: 51,067,710 (GRCm39) I2169F probably benign Het
Tm4sf19 A G 16: 32,226,458 (GRCm39) D124G possibly damaging Het
Trim2 T C 3: 84,098,026 (GRCm39) Y434C probably damaging Het
Usp34 T A 11: 23,327,622 (GRCm39) S1056T Het
Vmn1r230 T A 17: 21,067,312 (GRCm39) M167K probably benign Het
Vmn2r14 T A 5: 109,363,862 (GRCm39) M685L probably benign Het
Zfhx4 T A 3: 5,478,047 (GRCm39) V3554D probably damaging Het
Zfp1010 C T 2: 176,957,015 (GRCm39) G161D probably damaging Het
Zfp458 A G 13: 67,405,234 (GRCm39) S402P probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zmat5 G A 11: 4,672,379 (GRCm39) probably benign Het
Znfx1 C A 2: 166,897,857 (GRCm39) E356* probably null Het
Zswim5 A G 4: 116,808,291 (GRCm39) T292A probably benign Het
Other mutations in Scn3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02825:Scn3b APN 9 40,188,441 (GRCm39) missense probably damaging 1.00
IGL02998:Scn3b APN 9 40,199,713 (GRCm39) missense possibly damaging 0.48
IGL03177:Scn3b APN 9 40,181,338 (GRCm39) missense probably benign 0.00
R1482:Scn3b UTSW 9 40,190,792 (GRCm39) missense probably damaging 1.00
R1883:Scn3b UTSW 9 40,190,669 (GRCm39) critical splice acceptor site probably null
R2111:Scn3b UTSW 9 40,193,741 (GRCm39) missense probably benign 0.42
R4601:Scn3b UTSW 9 40,199,719 (GRCm39) missense probably damaging 1.00
R7085:Scn3b UTSW 9 40,188,394 (GRCm39) missense probably damaging 1.00
R7723:Scn3b UTSW 9 40,199,693 (GRCm39) nonsense probably null
R7966:Scn3b UTSW 9 40,193,846 (GRCm39) missense probably benign 0.20
R9402:Scn3b UTSW 9 40,193,852 (GRCm39) missense probably damaging 0.96
R9563:Scn3b UTSW 9 40,193,729 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTTCAGTGCTTATCTGAGCTATAC -3'
(R):5'- TCTGCCACTTACAGAAACTCATTTAGG -3'

Sequencing Primer
(F):5'- TCTGTCATGCAGGCACATATG -3'
(R):5'- GATTGCTTAACACCTCACCT -3'
Posted On 2020-09-15