Incidental Mutation 'R4822:Scn10a'
ID 371221
Institutional Source Beutler Lab
Gene Symbol Scn10a
Ensembl Gene ENSMUSG00000034533
Gene Name sodium channel, voltage-gated, type X, alpha
Synonyms Nav1.8
MMRRC Submission 042438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R4822 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119437522-119548388 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119467738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 801 (A801T)
Ref Sequence ENSEMBL: ENSMUSP00000150830 (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: A801T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081845
Gene: ENSMUSG00000034533
AA Change: A801T

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: A801T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000214408
AA Change: A801T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6922 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (101/103)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik C T 14: 70,393,907 (GRCm39) V243I probably benign Het
Acadvl C T 11: 69,902,010 (GRCm39) G485S probably benign Het
Acap3 T A 4: 155,986,908 (GRCm39) probably benign Het
Adamts19 A G 18: 59,023,356 (GRCm39) I250M probably damaging Het
Amacr T A 15: 10,983,496 (GRCm39) I102N probably damaging Het
Apob A G 12: 8,065,741 (GRCm39) T4237A probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bicd1 A T 6: 149,420,752 (GRCm39) probably benign Het
Caskin2 T A 11: 115,698,125 (GRCm39) E49V probably damaging Het
Cemip T A 7: 83,622,449 (GRCm39) I577F probably benign Het
Chrnb1 T C 11: 69,686,501 (GRCm39) S40G possibly damaging Het
Ctif C T 18: 75,654,632 (GRCm39) C298Y probably benign Het
Cul9 A C 17: 46,840,977 (GRCm39) H764Q probably benign Het
Cwf19l2 T A 9: 3,458,839 (GRCm39) C763S probably damaging Het
Dhx57 A T 17: 80,549,596 (GRCm39) probably null Het
Dnaaf10 T A 11: 17,177,165 (GRCm39) N174K probably damaging Het
Dnhd1 G A 7: 105,353,171 (GRCm39) D2775N probably benign Het
Enpp1 A T 10: 24,537,833 (GRCm39) M384K possibly damaging Het
Fat2 T C 11: 55,202,144 (GRCm39) N310S probably benign Het
Fbxw7 A T 3: 84,874,814 (GRCm39) Y232F possibly damaging Het
Fcamr T A 1: 130,740,423 (GRCm39) S281T possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Gm5592 A G 7: 40,805,314 (GRCm39) probably benign Het
Gm5745 T C 9: 73,082,980 (GRCm39) noncoding transcript Het
Gm6185 G C 1: 161,040,824 (GRCm39) noncoding transcript Het
Hid1 T A 11: 115,246,125 (GRCm39) N382Y probably damaging Het
Hoxa10 A T 6: 52,209,569 (GRCm39) F68I probably damaging Het
Ift88 T A 14: 57,679,326 (GRCm39) probably null Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Ighv7-2 A C 12: 113,875,892 (GRCm39) L37R probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn3 G C 3: 89,574,596 (GRCm39) V703L possibly damaging Het
Kiz C A 2: 146,732,989 (GRCm39) S388R probably damaging Het
Klhl20 G A 1: 160,921,333 (GRCm39) Q41* probably null Het
Krt31 T C 11: 99,938,610 (GRCm39) I328V possibly damaging Het
Lama4 A T 10: 38,909,049 (GRCm39) I330L probably benign Het
Lipo2 A T 19: 33,723,151 (GRCm39) S213T probably benign Het
Lrsam1 A T 2: 32,816,804 (GRCm39) I723N probably damaging Het
Man2b2 G A 5: 36,972,865 (GRCm39) R550W probably damaging Het
Map4k5 A T 12: 69,888,758 (GRCm39) L224* probably null Het
Mast3 A G 8: 71,233,010 (GRCm39) S1101P probably damaging Het
Mertk A G 2: 128,643,225 (GRCm39) S875G probably benign Het
Mmel1 A G 4: 154,972,354 (GRCm39) M302V probably benign Het
Mrgpra3 T A 7: 47,239,716 (GRCm39) H70L possibly damaging Het
Myh3 T A 11: 66,979,836 (GRCm39) S592T probably benign Het
Nbeal2 T C 9: 110,465,383 (GRCm39) I451V possibly damaging Het
Nup155 T A 15: 8,158,010 (GRCm39) V489D possibly damaging Het
Obscn T A 11: 58,913,159 (GRCm39) T6300S probably benign Het
Oprm1 A G 10: 6,779,036 (GRCm39) I146V probably damaging Het
Or1ad1 T A 11: 50,875,910 (GRCm39) C127* probably null Het
Or1j4 A G 2: 36,740,888 (GRCm39) M277V probably benign Het
Or4k44 G T 2: 111,367,797 (GRCm39) T279K probably damaging Het
Or5ae1 A C 7: 84,565,634 (GRCm39) I216L possibly damaging Het
Otub1 A T 19: 7,181,794 (GRCm39) D27E probably damaging Het
Pik3ca T C 3: 32,492,131 (GRCm39) V243A probably benign Het
Pla2g12b G A 10: 59,252,336 (GRCm39) probably null Het
Plekha8 A G 6: 54,601,546 (GRCm39) D321G probably damaging Het
Pprc1 T C 19: 46,059,795 (GRCm39) probably benign Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rbms3 C T 9: 116,773,441 (GRCm39) probably benign Het
Rictor T A 15: 6,821,161 (GRCm39) V1495D probably benign Het
Rpl31-ps21 T C 5: 21,324,507 (GRCm39) noncoding transcript Het
Ryr3 A T 2: 112,483,090 (GRCm39) I4219N probably damaging Het
Sbf2 G A 7: 109,977,146 (GRCm39) probably benign Het
Scn9a T A 2: 66,314,093 (GRCm39) Y1866F possibly damaging Het
Sec1 A C 7: 45,328,727 (GRCm39) Y107D probably damaging Het
Sema6d C T 2: 124,504,214 (GRCm39) T619M possibly damaging Het
Sh2b3 C A 5: 121,966,618 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,837,413 (GRCm39) V44A probably damaging Het
Slc5a12 T C 2: 110,452,085 (GRCm39) I326T possibly damaging Het
Smarca5 T C 8: 81,435,309 (GRCm39) probably null Het
Smarcd2 A G 11: 106,157,357 (GRCm39) probably null Het
Snrpa1 A T 7: 65,719,321 (GRCm39) probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Stard9 T G 2: 120,526,422 (GRCm39) V893G possibly damaging Het
Stx8 T G 11: 67,864,099 (GRCm39) V53G possibly damaging Het
Sv2c A T 13: 96,122,457 (GRCm39) W440R probably damaging Het
Tcstv2a A T 13: 120,725,686 (GRCm39) T117S probably damaging Het
Tmem181a A T 17: 6,330,940 (GRCm39) I67F probably benign Het
Tmprss7 C T 16: 45,483,679 (GRCm39) C565Y probably damaging Het
Trafd1 A T 5: 121,516,561 (GRCm39) L109H probably damaging Het
Trpv4 A G 5: 114,768,083 (GRCm39) I422T possibly damaging Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Vmn1r236 A T 17: 21,507,202 (GRCm39) N107Y probably damaging Het
Vmn2r13 A T 5: 109,321,938 (GRCm39) I253K probably damaging Het
Vmn2r2 T A 3: 64,041,960 (GRCm39) I252F probably damaging Het
Vsig8 A G 1: 172,387,205 (GRCm39) D27G probably damaging Het
Wiz A T 17: 32,575,411 (GRCm39) Y908* probably null Het
Wnk1 A T 6: 119,939,399 (GRCm39) S1113T probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp691 G T 4: 119,027,764 (GRCm39) T156K probably damaging Het
Zfp791 A T 8: 85,837,035 (GRCm39) D276E probably benign 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
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'- ATGCAGACCCACATGTTCTCG -3'
(R):5'- CCCAAACTCATGAGATGTCTTGG -3'

Sequencing Primer
(F):5'- GACCCACATGTTCTCGATCCAC -3'
(R):5'- CACAAGCTTGGCTTCCAGTGAAG -3'
Posted On 2016-03-01