Incidental Mutation 'R2155:Scn10a'
ID 234731
Institutional Source Beutler Lab
Gene Symbol Scn10a
Ensembl Gene ENSMUSG00000034533
Gene Name sodium channel, voltage-gated, type X, alpha
Synonyms Nav1.8
MMRRC Submission 040158-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R2155 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119437522-119548388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119438514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 1784 (I1784K)
Ref Sequence ENSEMBL: ENSMUSP00000148987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084787] [ENSMUST00000213392] [ENSMUST00000214408]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084787
AA Change: I1785K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: I1785K

DomainStartEndE-ValueType
Pfam:Ion_trans 129 406 7.9e-77 PFAM
low complexity region 557 572 N/A INTRINSIC
Pfam:Ion_trans 663 898 6.8e-53 PFAM
Pfam:Na_trans_assoc 903 1148 2.7e-57 PFAM
Pfam:Ion_trans 1152 1429 8.1e-66 PFAM
Pfam:Ion_trans 1476 1734 1.9e-55 PFAM
Pfam:PKD_channel 1561 1729 3.4e-8 PFAM
IQ 1851 1873 7.57e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213392
AA Change: I1784K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000214408
AA Change: I1785K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired perception of pain. Mice homozygous or heterozygous for an ENU-induced allele exhibit a catalepsy phenotype following scruffing and increased sensitivity to cold pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 16,939,260 (GRCm39) L41P probably damaging Het
Aff4 C T 11: 53,290,446 (GRCm39) L469F probably damaging Het
AI182371 G A 2: 34,975,366 (GRCm39) H288Y probably benign Het
AK157302 A T 13: 21,679,827 (GRCm39) K118* probably null Het
Arhgef2 G A 3: 88,543,351 (GRCm39) R454Q probably damaging Het
Asb17 C T 3: 153,550,322 (GRCm39) T118M probably damaging Het
Atp7b A G 8: 22,503,600 (GRCm39) V718A possibly damaging Het
Cdca2 A G 14: 67,952,287 (GRCm39) L28S probably damaging Het
Cdh20 G T 1: 109,976,594 (GRCm39) L86F probably damaging Het
Cela2a A T 4: 141,545,350 (GRCm39) probably null Het
Cers3 T A 7: 66,433,162 (GRCm39) Y160N probably damaging Het
Chmp2b A G 16: 65,343,877 (GRCm39) V56A probably benign Het
Cryl1 A G 14: 57,635,880 (GRCm39) V9A unknown Het
Dmbt1 A T 7: 130,699,305 (GRCm39) H978L possibly damaging Het
Dnm1 C T 2: 32,204,949 (GRCm39) V673M probably damaging Het
Dtx4 T A 19: 12,462,646 (GRCm39) K378* probably null Het
Extl1 A T 4: 134,090,491 (GRCm39) M328K possibly damaging Het
Fcgbp T C 7: 27,806,628 (GRCm39) S2199P probably benign Het
Glis3 G T 19: 28,508,702 (GRCm39) N427K probably benign Het
Hdac7 T C 15: 97,691,944 (GRCm39) K810E probably benign Het
Hesx1 A G 14: 26,723,434 (GRCm39) E88G probably benign Het
Hmcn2 A T 2: 31,350,361 (GRCm39) Q5086L possibly damaging Het
Ier3 A G 17: 36,133,101 (GRCm39) T128A probably benign Het
Igsf10 G T 3: 59,239,101 (GRCm39) T360K probably damaging Het
Ilkap A C 1: 91,312,345 (GRCm39) C2G possibly damaging Het
Itih1 A G 14: 30,660,028 (GRCm39) F231S probably damaging Het
Jrkl A T 9: 13,244,913 (GRCm39) Y249* probably null Het
Kat6a AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 8: 23,425,663 (GRCm39) probably benign Het
Katnal2 A T 18: 77,098,637 (GRCm39) S184R probably benign Het
Kcnh5 T A 12: 74,945,230 (GRCm39) probably null Het
Kcnj11 G T 7: 45,748,781 (GRCm39) L181I probably damaging Het
Klhl2 T C 8: 65,202,804 (GRCm39) T465A probably benign Het
Krt90 T A 15: 101,471,046 (GRCm39) Y72F probably benign Het
Lig4 G A 8: 10,022,766 (GRCm39) T338I probably benign Het
Lrrc37 T C 11: 103,511,285 (GRCm39) T228A unknown Het
Magel2 T C 7: 62,030,540 (GRCm39) V1148A unknown Het
Mak C A 13: 41,186,020 (GRCm39) E549D probably benign Het
Marf1 G T 16: 13,950,293 (GRCm39) S1001Y probably damaging Het
Mcoln1 G A 8: 3,561,787 (GRCm39) V446I probably damaging Het
Meig1 T C 2: 3,410,290 (GRCm39) N70S probably benign Het
Mfsd14a G A 3: 116,441,479 (GRCm39) T108I probably damaging Het
Mocs1 G A 17: 49,761,386 (GRCm39) M493I probably damaging Het
Mrpl11 C A 19: 5,012,497 (GRCm39) A26E probably damaging Het
Myh6 A T 14: 55,191,251 (GRCm39) D863E probably benign Het
Myom2 T A 8: 15,134,555 (GRCm39) Y453N probably damaging Het
Nhlh1 A G 1: 171,881,524 (GRCm39) I114T probably damaging Het
Odr4 A G 1: 150,258,086 (GRCm39) V183A possibly damaging Het
Or12j4 A C 7: 140,046,504 (GRCm39) H130P probably benign Het
Or2y3 G T 17: 38,393,071 (GRCm39) P266Q probably damaging Het
Or4k5 A T 14: 50,386,154 (GRCm39) M59K probably damaging Het
Or5k17 G T 16: 58,746,486 (GRCm39) F149L probably benign Het
Or5p80 C G 7: 108,229,984 (GRCm39) P262A probably damaging Het
Pclo T C 5: 14,764,309 (GRCm39) S976P probably benign Het
Pde3a G A 6: 141,429,640 (GRCm39) E734K possibly damaging Het
Pdzd2 A T 15: 12,375,879 (GRCm39) S1419T probably benign Het
Pdzd8 T A 19: 59,288,853 (GRCm39) Y849F probably damaging Het
Phldb3 A G 7: 24,312,070 (GRCm39) E128G probably damaging Het
Polg A G 7: 79,111,468 (GRCm39) I261T possibly damaging Het
Ppp1r35 T C 5: 137,778,267 (GRCm39) M254T probably benign Het
Ppp3ca G T 3: 136,596,211 (GRCm39) R292M possibly damaging Het
Ptk7 T A 17: 46,890,543 (GRCm39) T430S probably benign Het
Ptrh1 T A 2: 32,667,040 (GRCm39) N144K possibly damaging Het
Rbfox1 A G 16: 7,111,946 (GRCm39) T211A possibly damaging Het
Rbpjl A G 2: 164,256,343 (GRCm39) D443G possibly damaging Het
Rcc1 A G 4: 132,065,360 (GRCm39) probably null Het
Rimbp2 G T 5: 128,865,229 (GRCm39) S706R probably damaging Het
Rsph10b G C 5: 143,898,074 (GRCm39) E96D probably benign Het
Sfxn2 A G 19: 46,579,985 (GRCm39) probably null Het
Slamf6 T A 1: 171,765,575 (GRCm39) L233Q probably damaging Het
Slc17a5 A T 9: 78,484,455 (GRCm39) Y102N probably damaging Het
Slc25a53 T C X: 135,884,216 (GRCm39) T42A probably damaging Het
Slco1a8 T C 6: 141,926,670 (GRCm39) D552G probably damaging Het
Smg7 G A 1: 152,716,064 (GRCm39) T1057I possibly damaging Het
Speer2 T A 16: 69,657,485 (GRCm39) T53S possibly damaging Het
Srm A C 4: 148,676,948 (GRCm39) I100L probably benign Het
Stoml3 A C 3: 53,415,008 (GRCm39) N267H probably damaging Het
Thsd7a A C 6: 12,379,632 (GRCm39) C931G probably damaging Het
Tlr11 A G 14: 50,598,139 (GRCm39) I42V probably benign Het
Tmigd1 T C 11: 76,800,999 (GRCm39) V162A probably benign Het
Tmx3 A G 18: 90,528,505 (GRCm39) probably null Het
Topors T A 4: 40,262,790 (GRCm39) R165W possibly damaging Het
Ttc17 A T 2: 94,196,987 (GRCm39) S453R possibly damaging Het
Vmn1r49 G T 6: 90,049,441 (GRCm39) T187N probably damaging Het
Zbtb49 A T 5: 38,371,464 (GRCm39) V139E possibly damaging Het
Zfp11 T C 5: 129,734,216 (GRCm39) H415R probably damaging Het
Zfp677 A T 17: 21,617,970 (GRCm39) K342N probably benign Het
Zfp979 A C 4: 147,697,915 (GRCm39) C265G possibly damaging Het
Zfpl1 T C 19: 6,134,459 (GRCm39) R9G probably damaging Het
Zkscan8 A T 13: 21,704,759 (GRCm39) C321* probably null Het
Other mutations in Scn10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Scn10a APN 9 119,501,292 (GRCm39) missense probably damaging 1.00
IGL01339:Scn10a APN 9 119,451,832 (GRCm39) missense probably damaging 1.00
IGL01467:Scn10a APN 9 119,487,478 (GRCm39) missense probably benign 0.33
IGL01472:Scn10a APN 9 119,446,829 (GRCm39) missense probably damaging 1.00
IGL01481:Scn10a APN 9 119,438,260 (GRCm39) missense probably damaging 1.00
IGL01539:Scn10a APN 9 119,467,764 (GRCm39) missense probably damaging 0.99
IGL01580:Scn10a APN 9 119,456,225 (GRCm39) missense probably damaging 1.00
IGL01676:Scn10a APN 9 119,501,231 (GRCm39) nonsense probably null
IGL01681:Scn10a APN 9 119,523,143 (GRCm39) missense probably damaging 1.00
IGL01748:Scn10a APN 9 119,456,150 (GRCm39) missense probably damaging 1.00
IGL01866:Scn10a APN 9 119,464,568 (GRCm39) nonsense probably null
IGL01998:Scn10a APN 9 119,438,742 (GRCm39) missense probably damaging 1.00
IGL02015:Scn10a APN 9 119,494,017 (GRCm39) missense probably benign 0.09
IGL02098:Scn10a APN 9 119,520,544 (GRCm39) missense possibly damaging 0.90
IGL02113:Scn10a APN 9 119,438,956 (GRCm39) missense probably damaging 1.00
IGL02245:Scn10a APN 9 119,501,218 (GRCm39) missense probably damaging 1.00
IGL02262:Scn10a APN 9 119,487,499 (GRCm39) missense possibly damaging 0.92
IGL02317:Scn10a APN 9 119,467,621 (GRCm39) missense probably benign 0.00
IGL02428:Scn10a APN 9 119,520,628 (GRCm39) missense probably damaging 1.00
IGL02439:Scn10a APN 9 119,447,914 (GRCm39) missense probably benign 0.40
IGL02583:Scn10a APN 9 119,520,506 (GRCm39) splice site probably benign
IGL02597:Scn10a APN 9 119,439,189 (GRCm39) missense probably damaging 0.99
IGL02680:Scn10a APN 9 119,495,125 (GRCm39) missense probably damaging 1.00
IGL02733:Scn10a APN 9 119,445,771 (GRCm39) missense probably damaging 1.00
IGL02851:Scn10a APN 9 119,500,674 (GRCm39) missense probably damaging 1.00
IGL02992:Scn10a APN 9 119,438,626 (GRCm39) missense possibly damaging 0.90
IGL03040:Scn10a APN 9 119,452,051 (GRCm39) missense probably damaging 1.00
IGL03049:Scn10a APN 9 119,495,056 (GRCm39) missense probably damaging 1.00
IGL03407:Scn10a APN 9 119,477,237 (GRCm39) missense probably damaging 0.99
possum UTSW 9 119,467,771 (GRCm39) missense probably damaging 1.00
R0025:Scn10a UTSW 9 119,499,550 (GRCm39) missense probably damaging 1.00
R0030:Scn10a UTSW 9 119,499,056 (GRCm39) missense probably benign 0.01
R0328:Scn10a UTSW 9 119,523,168 (GRCm39) missense possibly damaging 0.92
R0494:Scn10a UTSW 9 119,453,166 (GRCm39) missense probably damaging 1.00
R0511:Scn10a UTSW 9 119,442,766 (GRCm39) missense probably damaging 0.99
R0548:Scn10a UTSW 9 119,494,994 (GRCm39) missense probably benign 0.00
R0584:Scn10a UTSW 9 119,499,597 (GRCm39) missense probably damaging 1.00
R0595:Scn10a UTSW 9 119,495,129 (GRCm39) missense probably benign 0.01
R0894:Scn10a UTSW 9 119,459,213 (GRCm39) missense probably damaging 1.00
R1022:Scn10a UTSW 9 119,438,340 (GRCm39) missense probably damaging 1.00
R1024:Scn10a UTSW 9 119,438,340 (GRCm39) missense probably damaging 1.00
R1263:Scn10a UTSW 9 119,446,799 (GRCm39) missense probably damaging 1.00
R1456:Scn10a UTSW 9 119,520,544 (GRCm39) missense probably benign 0.01
R1466:Scn10a UTSW 9 119,495,556 (GRCm39) missense probably damaging 1.00
R1466:Scn10a UTSW 9 119,495,556 (GRCm39) missense probably damaging 1.00
R1573:Scn10a UTSW 9 119,442,692 (GRCm39) missense probably benign 0.04
R1704:Scn10a UTSW 9 119,438,460 (GRCm39) missense probably damaging 1.00
R1933:Scn10a UTSW 9 119,439,064 (GRCm39) missense probably damaging 1.00
R1945:Scn10a UTSW 9 119,520,520 (GRCm39) missense possibly damaging 0.91
R2013:Scn10a UTSW 9 119,442,802 (GRCm39) missense probably damaging 0.99
R2196:Scn10a UTSW 9 119,438,070 (GRCm39) missense probably benign
R2231:Scn10a UTSW 9 119,462,916 (GRCm39) missense possibly damaging 0.73
R2353:Scn10a UTSW 9 119,467,753 (GRCm39) missense probably damaging 1.00
R2392:Scn10a UTSW 9 119,456,268 (GRCm39) missense possibly damaging 0.86
R2895:Scn10a UTSW 9 119,490,467 (GRCm39) missense probably benign 0.00
R2926:Scn10a UTSW 9 119,467,767 (GRCm39) missense possibly damaging 0.93
R3783:Scn10a UTSW 9 119,520,628 (GRCm39) missense probably damaging 1.00
R3821:Scn10a UTSW 9 119,467,699 (GRCm39) missense probably benign
R4003:Scn10a UTSW 9 119,438,034 (GRCm39) missense probably null 0.00
R4208:Scn10a UTSW 9 119,445,842 (GRCm39) missense probably damaging 0.99
R4231:Scn10a UTSW 9 119,460,610 (GRCm39) missense probably damaging 0.98
R4626:Scn10a UTSW 9 119,460,571 (GRCm39) missense possibly damaging 0.87
R4702:Scn10a UTSW 9 119,462,857 (GRCm39) missense possibly damaging 0.59
R4713:Scn10a UTSW 9 119,438,717 (GRCm39) missense probably damaging 1.00
R4729:Scn10a UTSW 9 119,500,592 (GRCm39) missense probably damaging 1.00
R4782:Scn10a UTSW 9 119,451,976 (GRCm39) missense possibly damaging 0.70
R4822:Scn10a UTSW 9 119,467,738 (GRCm39) missense probably damaging 1.00
R4856:Scn10a UTSW 9 119,523,376 (GRCm39) missense possibly damaging 0.63
R4856:Scn10a UTSW 9 119,523,375 (GRCm39) missense possibly damaging 0.46
R4932:Scn10a UTSW 9 119,516,940 (GRCm39) splice site probably null
R5015:Scn10a UTSW 9 119,451,987 (GRCm39) missense possibly damaging 0.93
R5193:Scn10a UTSW 9 119,438,721 (GRCm39) missense probably damaging 1.00
R5211:Scn10a UTSW 9 119,490,298 (GRCm39) missense possibly damaging 0.87
R5320:Scn10a UTSW 9 119,477,175 (GRCm39) missense probably damaging 1.00
R5400:Scn10a UTSW 9 119,438,100 (GRCm39) missense probably damaging 0.99
R5448:Scn10a UTSW 9 119,517,013 (GRCm39) missense probably benign 0.25
R5457:Scn10a UTSW 9 119,523,193 (GRCm39) missense probably damaging 1.00
R5554:Scn10a UTSW 9 119,523,196 (GRCm39) missense probably benign 0.01
R5680:Scn10a UTSW 9 119,453,202 (GRCm39) missense probably damaging 1.00
R5762:Scn10a UTSW 9 119,464,507 (GRCm39) critical splice donor site probably null
R5935:Scn10a UTSW 9 119,456,237 (GRCm39) missense probably damaging 0.99
R5956:Scn10a UTSW 9 119,460,626 (GRCm39) missense probably damaging 1.00
R6041:Scn10a UTSW 9 119,438,535 (GRCm39) missense probably damaging 1.00
R6047:Scn10a UTSW 9 119,451,897 (GRCm39) missense probably benign 0.20
R6132:Scn10a UTSW 9 119,442,761 (GRCm39) missense possibly damaging 0.94
R6156:Scn10a UTSW 9 119,464,649 (GRCm39) missense probably benign 0.00
R6309:Scn10a UTSW 9 119,453,181 (GRCm39) missense possibly damaging 0.95
R6318:Scn10a UTSW 9 119,456,181 (GRCm39) missense probably damaging 1.00
R6394:Scn10a UTSW 9 119,490,386 (GRCm39) missense probably benign 0.36
R6711:Scn10a UTSW 9 119,438,979 (GRCm39) missense probably damaging 1.00
R6751:Scn10a UTSW 9 119,500,617 (GRCm39) missense probably damaging 1.00
R6877:Scn10a UTSW 9 119,438,848 (GRCm39) missense probably damaging 0.96
R6909:Scn10a UTSW 9 119,438,856 (GRCm39) missense probably damaging 1.00
R7023:Scn10a UTSW 9 119,442,610 (GRCm39) missense probably damaging 0.99
R7205:Scn10a UTSW 9 119,442,616 (GRCm39) missense probably damaging 0.99
R7254:Scn10a UTSW 9 119,447,921 (GRCm39) missense probably damaging 0.99
R7261:Scn10a UTSW 9 119,438,790 (GRCm39) missense probably damaging 0.97
R7283:Scn10a UTSW 9 119,493,845 (GRCm39) critical splice donor site probably null
R7453:Scn10a UTSW 9 119,467,618 (GRCm39) missense probably benign
R7561:Scn10a UTSW 9 119,523,390 (GRCm39) start codon destroyed probably null 0.66
R7590:Scn10a UTSW 9 119,495,466 (GRCm39) missense probably damaging 1.00
R7759:Scn10a UTSW 9 119,477,198 (GRCm39) nonsense probably null
R7765:Scn10a UTSW 9 119,438,970 (GRCm39) missense possibly damaging 0.90
R7851:Scn10a UTSW 9 119,446,828 (GRCm39) missense probably damaging 0.99
R7875:Scn10a UTSW 9 119,464,508 (GRCm39) critical splice donor site probably null
R7975:Scn10a UTSW 9 119,501,286 (GRCm39) missense probably benign 0.31
R8010:Scn10a UTSW 9 119,490,233 (GRCm39) missense possibly damaging 0.56
R8027:Scn10a UTSW 9 119,462,856 (GRCm39) missense probably damaging 0.99
R8221:Scn10a UTSW 9 119,446,829 (GRCm39) missense probably damaging 1.00
R8249:Scn10a UTSW 9 119,446,840 (GRCm39) missense probably damaging 1.00
R8319:Scn10a UTSW 9 119,499,455 (GRCm39) missense probably benign 0.04
R8323:Scn10a UTSW 9 119,438,462 (GRCm39) missense possibly damaging 0.95
R8539:Scn10a UTSW 9 119,467,840 (GRCm39) nonsense probably null
R8679:Scn10a UTSW 9 119,501,194 (GRCm39) missense probably damaging 0.97
R8680:Scn10a UTSW 9 119,520,509 (GRCm39) critical splice donor site probably null
R8844:Scn10a UTSW 9 119,446,791 (GRCm39) missense probably damaging 0.98
R9011:Scn10a UTSW 9 119,459,160 (GRCm39) missense probably damaging 0.99
R9055:Scn10a UTSW 9 119,451,958 (GRCm39) missense probably damaging 0.98
R9206:Scn10a UTSW 9 119,445,827 (GRCm39) missense probably damaging 1.00
R9615:Scn10a UTSW 9 119,487,504 (GRCm39) missense possibly damaging 0.55
R9622:Scn10a UTSW 9 119,438,046 (GRCm39) missense probably benign 0.11
R9641:Scn10a UTSW 9 119,445,869 (GRCm39) missense possibly damaging 0.60
R9651:Scn10a UTSW 9 119,439,063 (GRCm39) missense probably benign 0.17
X0058:Scn10a UTSW 9 119,438,430 (GRCm39) nonsense probably null
Z1177:Scn10a UTSW 9 119,453,211 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGAGATGTCTTCCTGCTTGCAC -3'
(R):5'- TCTGGAGAACTTCAATGTGGC -3'

Sequencing Primer
(F):5'- TTCCTGCTTGCACCGGAG -3'
(R):5'- GAACTTCAATGTGGCCACAG -3'
Posted On 2014-10-01