Incidental Mutation 'R7261:Scn10a'
ID 564631
Institutional Source Beutler Lab
Gene Symbol Scn10a
Ensembl Gene ENSMUSG00000034533
Gene Name sodium channel, voltage-gated, type X, alpha
Synonyms Nav1.8
MMRRC Submission 045387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R7261 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119437522-119548388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119438790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 1692 (C1692F)
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 damaging
Transcript: ENSMUST00000084787
AA Change: C1693F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: C1693F

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 damaging
Transcript: ENSMUST00000213392
AA Change: C1692F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214408
AA Change: C1693F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (84/85)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,259,526 (GRCm39) F1954L probably damaging Het
Acmsd T G 1: 127,687,561 (GRCm39) I281R probably damaging Het
Adamts2 A T 11: 50,677,424 (GRCm39) M742L possibly damaging Het
Adgrf4 G A 17: 42,978,326 (GRCm39) T339I probably benign Het
Aff1 T C 5: 103,976,245 (GRCm39) S448P probably damaging Het
Agbl2 A T 2: 90,619,288 (GRCm39) S38C possibly damaging Het
Akap7 C T 10: 25,147,416 (GRCm39) D105N possibly damaging Het
Arhgap21 A G 2: 20,885,177 (GRCm39) F677L probably benign Het
Atf6b G T 17: 34,869,792 (GRCm39) V271F probably damaging Het
B3gnt5 A G 16: 19,588,123 (GRCm39) Y114C probably damaging Het
Casp7 T A 19: 56,424,765 (GRCm39) D161E probably benign Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Ccdc162 T C 10: 41,437,136 (GRCm39) T1758A probably benign Het
Cfap74 C A 4: 155,549,831 (GRCm39) P155T unknown Het
Champ1 A G 8: 13,928,517 (GRCm39) D225G possibly damaging Het
Chrng A T 1: 87,134,962 (GRCm39) probably null Het
Cnksr1 T C 4: 133,963,084 (GRCm39) probably null Het
Col15a1 G A 4: 47,269,088 (GRCm39) G582D probably benign Het
Cwc25 A G 11: 97,648,585 (GRCm39) V81A possibly damaging Het
Ddhd1 A G 14: 45,894,688 (GRCm39) Y261H probably damaging Het
Defa29 A G 8: 21,816,818 (GRCm39) probably null Het
Diaph3 A C 14: 87,202,893 (GRCm39) C666G probably benign Het
Dlx2 A G 2: 71,375,019 (GRCm39) Y282H probably damaging Het
Dsc3 A T 18: 20,113,814 (GRCm39) Y369* probably null Het
Dtwd1 A G 2: 126,000,424 (GRCm39) N120S probably benign Het
Dysf G A 6: 84,169,992 (GRCm39) S1761N probably damaging Het
Enthd1 A T 15: 80,444,416 (GRCm39) N46K probably damaging Het
Epha7 T A 4: 28,813,418 (GRCm39) I12N probably benign Het
Fam171a2 T A 11: 102,328,900 (GRCm39) N620Y probably damaging Het
Garin4 T C 1: 190,896,308 (GRCm39) S112G unknown Het
Gfpt2 A T 11: 49,714,078 (GRCm39) E278D possibly damaging Het
Gm3285 A G 10: 77,698,244 (GRCm39) Q131R unknown Het
Gpcpd1 A C 2: 132,410,619 (GRCm39) C23G probably damaging Het
Gtpbp4 A T 13: 9,037,954 (GRCm39) H228Q probably benign Het
Hdac7 A G 15: 97,704,415 (GRCm39) V500A probably benign Het
Hykk T G 9: 54,828,010 (GRCm39) M83R possibly damaging Het
Idi1 A G 13: 8,936,931 (GRCm39) I101V probably benign Het
Irs2 A T 8: 11,057,018 (GRCm39) H471Q possibly damaging Het
Itsn1 T C 16: 91,702,194 (GRCm39) V12A probably benign Het
Jak2 A G 19: 29,288,385 (GRCm39) I1079V possibly damaging Het
Kcnt2 G A 1: 140,282,255 (GRCm39) R80H possibly damaging Het
Lamb2 T C 9: 108,358,496 (GRCm39) Y178H probably damaging Het
Lgr5 A T 10: 115,423,370 (GRCm39) L10Q possibly damaging Het
Lnx1 G T 5: 74,838,175 (GRCm39) S29* probably null Het
Lpcat3 T A 6: 124,675,050 (GRCm39) F57I probably benign Het
Manf T C 9: 106,769,088 (GRCm39) T4A probably benign Het
Map2k3 G A 11: 60,836,393 (GRCm39) probably null Het
Myh14 G A 7: 44,273,761 (GRCm39) Q1329* probably null Het
Myocd T C 11: 65,078,422 (GRCm39) S458G probably damaging Het
Ncor2 T C 5: 125,187,143 (GRCm39) probably null Het
Ndufs8 A T 19: 3,961,606 (GRCm39) N23K probably benign Het
Nkx6-1 T C 5: 101,812,006 (GRCm39) K32R unknown Het
Nlrp3 T G 11: 59,439,272 (GRCm39) V283G possibly damaging Het
Nme3 A G 17: 25,116,037 (GRCm39) probably null Het
Or1o3 A G 17: 37,574,076 (GRCm39) F160L probably benign Het
Or8g23 C T 9: 38,971,504 (GRCm39) V153M possibly damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Peg10 T A 6: 4,756,591 (GRCm39) M389K unknown Het
Phf23 G T 11: 69,890,091 (GRCm39) C340F possibly damaging Het
Piwil2 A G 14: 70,611,860 (GRCm39) Y929H probably damaging Het
Prss39 A G 1: 34,539,369 (GRCm39) D203G probably damaging Het
Prss54 G T 8: 96,286,367 (GRCm39) D235E probably benign Het
Prtg T A 9: 72,815,117 (GRCm39) M1015K possibly damaging Het
Rbbp8 T C 18: 11,838,799 (GRCm39) I160T probably damaging Het
Rxylt1 A T 10: 121,924,822 (GRCm39) D293E probably benign Het
Scn11a C T 9: 119,648,899 (GRCm39) D55N probably damaging Het
Secisbp2 G T 13: 51,836,498 (GRCm39) V768F probably damaging Het
Skic3 A G 13: 76,261,698 (GRCm39) T138A probably benign Het
Spag16 T C 1: 70,338,780 (GRCm39) I426T possibly damaging Het
Sspo G A 6: 48,427,011 (GRCm39) V250M possibly damaging Het
Strbp A T 2: 37,531,149 (GRCm39) probably null Het
Sv2c C T 13: 96,224,809 (GRCm39) V167M probably damaging Het
Tdpoz1 G A 3: 93,577,794 (GRCm39) S330L not run Het
Tigd2 T A 6: 59,188,052 (GRCm39) D306E probably benign Het
Trrap C T 5: 144,782,287 (GRCm39) P3278S possibly damaging Het
Vdac1 A T 11: 52,265,761 (GRCm39) K28N probably damaging Het
Vmn1r84 A T 7: 12,096,069 (GRCm39) M208K probably damaging Het
Vmn2r77 A T 7: 86,460,518 (GRCm39) K615* probably null Het
Vps11 A G 9: 44,265,800 (GRCm39) L493P probably damaging Het
Zbtb21 T C 16: 97,754,179 (GRCm39) I35V possibly damaging Het
Zbtb26 A T 2: 37,326,667 (GRCm39) M123K possibly damaging Het
Zfp236 A T 18: 82,627,470 (GRCm39) D1576E possibly damaging 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
R2155:Scn10a UTSW 9 119,438,514 (GRCm39) missense probably benign 0.02
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
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'- TGTCTGCAAAGTCTGAGAGGG -3'
(R):5'- CTGGCATCGACGACATGTTC -3'

Sequencing Primer
(F):5'- GGGTCAAACTTCTCCCAGGTC -3'
(R):5'- GGCATCGACGACATGTTCAACTTC -3'
Posted On 2019-06-26