Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Scn9a'

232884

Institutional Source

Beutler Lab

Gene Symbol

Scn9a

Ensembl Gene

ENSMUSG00000075316

Gene Name

sodium channel, voltage-gated, type IX, alpha

Synonyms

PN1

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66310424-66465306 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66314396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1774 (E1774G)

Ref Sequence

ENSEMBL: ENSMUSP00000126528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100063] [ENSMUST00000100064] [ENSMUST00000112354] [ENSMUST00000164384] [ENSMUST00000169900]

AlphaFold

Q62205

Predicted Effect

probably damaging
Transcript: ENSMUST00000100063
AA Change: E1765G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097641
Gene: ENSMUSG00000075316
AA Change: E1765G

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	403	9.5e-78	PFAM
coiled coil region	404	442	N/A	INTRINSIC
Pfam:DUF3451	465	685	1.3e-62	PFAM
Pfam:Ion_trans	768	957	9.9e-48	PFAM
Pfam:Na_trans_assoc	972	1191	2.9e-72	PFAM
low complexity region	1203	1214	N/A	INTRINSIC
Pfam:Ion_trans	1217	1445	2.8e-55	PFAM
PDB:1BYY\|A	1447	1499	9e-27	PDB
Pfam:Ion_trans	1538	1748	3.4e-52	PFAM
Pfam:PKD_channel	1599	1755	1.1e-7	PFAM
IQ	1877	1899	1.03e-3	SMART
low complexity region	1956	1972	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100064
AA Change: E1774G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097642
Gene: ENSMUSG00000075316
AA Change: E1774G

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	125	412	2.2e-84	PFAM
low complexity region	433	446	N/A	INTRINSIC
Pfam:Na_trans_cytopl	483	693	7.5e-76	PFAM
Pfam:Ion_trans	742	977	4.1e-57	PFAM
Pfam:Na_trans_assoc	981	1185	1.4e-58	PFAM
Pfam:Ion_trans	1189	1466	7e-67	PFAM
Pfam:Ion_trans	1512	1769	1e-55	PFAM
Pfam:PKD_channel	1605	1763	2.6e-7	PFAM
IQ	1886	1908	1.03e-3	SMART
low complexity region	1965	1981	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112354
AA Change: E1763G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107973
Gene: ENSMUSG00000075316
AA Change: E1763G

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	401	1.2e-77	PFAM
coiled coil region	402	449	N/A	INTRINSIC
Pfam:DUF3451	463	683	1.3e-62	PFAM
Pfam:Ion_trans	766	955	9.9e-48	PFAM
Pfam:Na_trans_assoc	970	1189	2.9e-72	PFAM
low complexity region	1201	1212	N/A	INTRINSIC
Pfam:Ion_trans	1215	1443	2.8e-55	PFAM
PDB:1BYY\|A	1445	1497	7e-29	PDB
Pfam:Ion_trans	1536	1746	3.4e-52	PFAM
Pfam:PKD_channel	1597	1753	1.1e-7	PFAM
IQ	1875	1897	1.03e-3	SMART
low complexity region	1954	1970	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152740

Predicted Effect

probably damaging
Transcript: ENSMUST00000164384
AA Change: E1774G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126528
Gene: ENSMUSG00000075316
AA Change: E1774G

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	401	1.1e-77	PFAM
coiled coil region	402	449	N/A	INTRINSIC
Pfam:DUF3451	463	694	4.2e-66	PFAM
Pfam:Ion_trans	777	966	8.8e-48	PFAM
Pfam:Na_trans_assoc	981	1200	6e-72	PFAM
low complexity region	1212	1223	N/A	INTRINSIC
Pfam:Ion_trans	1226	1454	2.5e-55	PFAM
PDB:1BYY\|A	1456	1508	6e-29	PDB
Pfam:Ion_trans	1547	1757	3e-52	PFAM
Pfam:PKD_channel	1608	1764	8.1e-8	PFAM
IQ	1886	1908	1.03e-3	SMART
low complexity region	1965	1981	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169900
AA Change: E1763G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131711
Gene: ENSMUSG00000075316
AA Change: E1763G

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
Pfam:Ion_trans	154	401	3.7e-78	PFAM
coiled coil region	402	449	N/A	INTRINSIC
Pfam:DUF3451	463	683	1.3e-62	PFAM
Pfam:Ion_trans	766	955	9.9e-48	PFAM
Pfam:Na_trans_assoc	970	1189	2.9e-72	PFAM
low complexity region	1201	1212	N/A	INTRINSIC
Pfam:Ion_trans	1215	1443	2.8e-55	PFAM
PDB:1BYY\|A	1445	1497	7e-29	PDB
Pfam:Ion_trans	1536	1746	3.4e-52	PFAM
Pfam:PKD_channel	1597	1753	1.1e-7	PFAM
IQ	1875	1897	1.03e-3	SMART
low complexity region	1954	1970	N/A	INTRINSIC

Meta Mutation Damage Score

0.4417

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal/neonatal lethality. Mice homozygous for a knock-in allele exhibit increased susceptibility to electrically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcf3	C	A	10: 80,246,040 (GRCm39)	G628W	probably damaging	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	Het

Other mutations in Scn9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Scn9a	APN	2	66,393,945 (GRCm39)	missense	probably damaging	1.00
IGL00570:Scn9a	APN	2	66,314,486 (GRCm39)	missense	probably damaging	1.00
IGL00809:Scn9a	APN	2	66,314,279 (GRCm39)	missense	probably damaging	1.00
IGL00977:Scn9a	APN	2	66,314,645 (GRCm39)	missense	probably damaging	0.99
IGL01120:Scn9a	APN	2	66,357,316 (GRCm39)	missense	probably benign	0.00
IGL01134:Scn9a	APN	2	66,335,312 (GRCm39)	missense	probably damaging	1.00
IGL01300:Scn9a	APN	2	66,318,397 (GRCm39)	nonsense	probably null
IGL01452:Scn9a	APN	2	66,357,416 (GRCm39)	missense	probably damaging	1.00
IGL01531:Scn9a	APN	2	66,367,722 (GRCm39)	missense	probably benign	0.11
IGL01572:Scn9a	APN	2	66,324,230 (GRCm39)	missense	probably benign	0.00
IGL01645:Scn9a	APN	2	66,317,986 (GRCm39)	missense	possibly damaging	0.62
IGL01823:Scn9a	APN	2	66,314,386 (GRCm39)	missense	probably damaging	1.00
IGL01965:Scn9a	APN	2	66,314,777 (GRCm39)	missense	probably damaging	1.00
IGL02127:Scn9a	APN	2	66,325,170 (GRCm39)	missense	probably damaging	1.00
IGL02127:Scn9a	APN	2	66,377,479 (GRCm39)	missense	probably damaging	1.00
IGL02166:Scn9a	APN	2	66,323,447 (GRCm39)	missense	possibly damaging	0.95
IGL02183:Scn9a	APN	2	66,314,955 (GRCm39)	splice site	probably benign
IGL02640:Scn9a	APN	2	66,366,440 (GRCm39)	critical splice donor site	probably null
IGL02685:Scn9a	APN	2	66,367,637 (GRCm39)	missense	probably damaging	1.00
IGL02798:Scn9a	APN	2	66,370,903 (GRCm39)	missense	possibly damaging	0.52
IGL02832:Scn9a	APN	2	66,398,373 (GRCm39)	missense	probably damaging	1.00
IGL03008:Scn9a	APN	2	66,392,855 (GRCm39)	missense	probably damaging	1.00
IGL03270:Scn9a	APN	2	66,314,358 (GRCm39)	missense	probably damaging	1.00
IGL03408:Scn9a	APN	2	66,357,091 (GRCm39)	missense	probably benign	0.00
BB007:Scn9a	UTSW	2	66,335,193 (GRCm39)	missense	probably damaging	0.99
BB017:Scn9a	UTSW	2	66,335,193 (GRCm39)	missense	probably damaging	0.99
R0039:Scn9a	UTSW	2	66,392,788 (GRCm39)	missense	probably damaging	0.98
R0173:Scn9a	UTSW	2	66,363,437 (GRCm39)	missense	probably damaging	1.00
R0323:Scn9a	UTSW	2	66,398,475 (GRCm39)	missense	probably damaging	1.00
R0344:Scn9a	UTSW	2	66,335,354 (GRCm39)	missense	probably damaging	0.99
R0421:Scn9a	UTSW	2	66,373,621 (GRCm39)	missense	probably benign
R0465:Scn9a	UTSW	2	66,357,340 (GRCm39)	missense	probably damaging	1.00
R0514:Scn9a	UTSW	2	66,314,022 (GRCm39)	missense	probably damaging	1.00
R0599:Scn9a	UTSW	2	66,357,143 (GRCm39)	missense	probably damaging	0.96
R0627:Scn9a	UTSW	2	66,367,721 (GRCm39)	missense	probably benign	0.00
R0644:Scn9a	UTSW	2	66,363,405 (GRCm39)	critical splice donor site	probably null
R0653:Scn9a	UTSW	2	66,363,721 (GRCm39)	missense	probably damaging	1.00
R0685:Scn9a	UTSW	2	66,313,843 (GRCm39)	missense	probably benign	0.02
R0718:Scn9a	UTSW	2	66,377,456 (GRCm39)	missense	probably damaging	1.00
R0827:Scn9a	UTSW	2	66,366,468 (GRCm39)	nonsense	probably null
R0890:Scn9a	UTSW	2	66,314,079 (GRCm39)	missense	probably damaging	1.00
R1139:Scn9a	UTSW	2	66,335,341 (GRCm39)	missense	probably benign	0.02
R1385:Scn9a	UTSW	2	66,393,886 (GRCm39)	missense	probably damaging	1.00
R1398:Scn9a	UTSW	2	66,314,930 (GRCm39)	missense	probably benign	0.11
R1496:Scn9a	UTSW	2	66,357,232 (GRCm39)	missense	probably benign
R1511:Scn9a	UTSW	2	66,357,157 (GRCm39)	missense	probably benign	0.01
R1517:Scn9a	UTSW	2	66,335,371 (GRCm39)	splice site	probably benign
R1564:Scn9a	UTSW	2	66,314,648 (GRCm39)	missense	probably damaging	1.00
R1634:Scn9a	UTSW	2	66,318,361 (GRCm39)	missense	probably damaging	1.00
R1662:Scn9a	UTSW	2	66,313,803 (GRCm39)	missense	probably benign	0.00
R1695:Scn9a	UTSW	2	66,335,220 (GRCm39)	nonsense	probably null
R1709:Scn9a	UTSW	2	66,313,850 (GRCm39)	missense	probably damaging	1.00
R1741:Scn9a	UTSW	2	66,317,938 (GRCm39)	missense	probably damaging	0.99
R1755:Scn9a	UTSW	2	66,332,060 (GRCm39)	missense	probably benign	0.38
R1914:Scn9a	UTSW	2	66,396,594 (GRCm39)	missense	probably damaging	1.00
R1962:Scn9a	UTSW	2	66,314,655 (GRCm39)	missense	probably damaging	1.00
R1970:Scn9a	UTSW	2	66,345,724 (GRCm39)	missense	probably damaging	0.97
R2017:Scn9a	UTSW	2	66,345,665 (GRCm39)	missense	probably damaging	0.99
R2092:Scn9a	UTSW	2	66,363,720 (GRCm39)	missense	probably damaging	0.99
R2105:Scn9a	UTSW	2	66,398,527 (GRCm39)	missense	probably benign	0.25
R2115:Scn9a	UTSW	2	66,314,396 (GRCm39)	missense	probably damaging	1.00
R2128:Scn9a	UTSW	2	66,356,998 (GRCm39)	missense	probably damaging	1.00
R2157:Scn9a	UTSW	2	66,366,669 (GRCm39)	missense	probably damaging	1.00
R2162:Scn9a	UTSW	2	66,364,573 (GRCm39)	missense	probably damaging	0.98
R2350:Scn9a	UTSW	2	66,335,312 (GRCm39)	missense	probably damaging	1.00
R3694:Scn9a	UTSW	2	66,392,749 (GRCm39)	missense	probably benign
R3771:Scn9a	UTSW	2	66,313,992 (GRCm39)	missense	probably benign	0.26
R3772:Scn9a	UTSW	2	66,313,992 (GRCm39)	missense	probably benign	0.26
R3773:Scn9a	UTSW	2	66,313,992 (GRCm39)	missense	probably benign	0.26
R3922:Scn9a	UTSW	2	66,357,217 (GRCm39)	missense	possibly damaging	0.88
R3926:Scn9a	UTSW	2	66,357,217 (GRCm39)	missense	possibly damaging	0.88
R4258:Scn9a	UTSW	2	66,395,398 (GRCm39)	intron	probably benign
R4385:Scn9a	UTSW	2	66,314,900 (GRCm39)	missense	probably damaging	1.00
R4415:Scn9a	UTSW	2	66,357,037 (GRCm39)	missense	probably damaging	1.00
R4570:Scn9a	UTSW	2	66,313,902 (GRCm39)	missense	possibly damaging	0.85
R4682:Scn9a	UTSW	2	66,377,362 (GRCm39)	missense	probably benign
R4783:Scn9a	UTSW	2	66,370,967 (GRCm39)	missense	probably benign	0.01
R4822:Scn9a	UTSW	2	66,314,093 (GRCm39)	missense	possibly damaging	0.55
R4829:Scn9a	UTSW	2	66,382,057 (GRCm39)	missense	probably benign
R4908:Scn9a	UTSW	2	66,357,087 (GRCm39)	missense	probably benign	0.03
R4983:Scn9a	UTSW	2	66,396,614 (GRCm39)	missense	probably benign	0.02
R5047:Scn9a	UTSW	2	66,392,824 (GRCm39)	missense	probably damaging	1.00
R5100:Scn9a	UTSW	2	66,364,463 (GRCm39)	missense	probably damaging	1.00
R5140:Scn9a	UTSW	2	66,395,511 (GRCm39)	missense	possibly damaging	0.81
R5398:Scn9a	UTSW	2	66,318,387 (GRCm39)	missense	probably damaging	1.00
R5557:Scn9a	UTSW	2	66,377,447 (GRCm39)	missense	probably damaging	0.99
R5582:Scn9a	UTSW	2	66,395,373 (GRCm39)	intron	probably benign
R6108:Scn9a	UTSW	2	66,314,393 (GRCm39)	missense	probably damaging	1.00
R6115:Scn9a	UTSW	2	66,393,973 (GRCm39)	missense	possibly damaging	0.70
R6143:Scn9a	UTSW	2	66,317,868 (GRCm39)	missense	probably benign	0.00
R6261:Scn9a	UTSW	2	66,314,240 (GRCm39)	missense	probably damaging	1.00
R6335:Scn9a	UTSW	2	66,398,608 (GRCm39)	start codon destroyed	possibly damaging	0.91
R6429:Scn9a	UTSW	2	66,357,307 (GRCm39)	missense	possibly damaging	0.95
R6632:Scn9a	UTSW	2	66,313,846 (GRCm39)	missense	probably benign	0.23
R6681:Scn9a	UTSW	2	66,393,686 (GRCm39)	missense	possibly damaging	0.90
R6830:Scn9a	UTSW	2	66,398,373 (GRCm39)	missense	probably damaging	1.00
R7102:Scn9a	UTSW	2	66,379,359 (GRCm39)	missense	probably damaging	1.00
R7186:Scn9a	UTSW	2	66,364,567 (GRCm39)	missense	probably damaging	1.00
R7243:Scn9a	UTSW	2	66,370,874 (GRCm39)	missense	probably damaging	1.00
R7311:Scn9a	UTSW	2	66,314,748 (GRCm39)	missense	possibly damaging	0.54
R7328:Scn9a	UTSW	2	66,314,931 (GRCm39)	missense	probably benign
R7386:Scn9a	UTSW	2	66,370,894 (GRCm39)	missense	probably damaging	1.00
R7438:Scn9a	UTSW	2	66,377,531 (GRCm39)	missense	possibly damaging	0.81
R7483:Scn9a	UTSW	2	66,363,692 (GRCm39)	missense	probably damaging	0.99
R7485:Scn9a	UTSW	2	66,364,561 (GRCm39)	missense	probably damaging	1.00
R7526:Scn9a	UTSW	2	66,313,990 (GRCm39)	missense	probably benign
R7617:Scn9a	UTSW	2	66,370,893 (GRCm39)	missense	possibly damaging	0.55
R7642:Scn9a	UTSW	2	66,366,580 (GRCm39)	missense	probably benign	0.02
R7653:Scn9a	UTSW	2	66,357,424 (GRCm39)	missense	probably damaging	1.00
R7747:Scn9a	UTSW	2	66,314,642 (GRCm39)	missense	probably damaging	1.00
R7823:Scn9a	UTSW	2	66,314,135 (GRCm39)	missense	probably damaging	1.00
R7864:Scn9a	UTSW	2	66,314,904 (GRCm39)	missense	possibly damaging	0.73
R7890:Scn9a	UTSW	2	66,373,456 (GRCm39)	missense	probably benign	0.00
R7930:Scn9a	UTSW	2	66,335,193 (GRCm39)	missense	probably damaging	0.99
R7975:Scn9a	UTSW	2	66,314,597 (GRCm39)	missense	probably damaging	1.00
R8057:Scn9a	UTSW	2	66,345,774 (GRCm39)	missense	probably benign	0.06
R8145:Scn9a	UTSW	2	66,317,754 (GRCm39)	missense	probably damaging	1.00
R8163:Scn9a	UTSW	2	66,314,745 (GRCm39)	missense	probably damaging	1.00
R8165:Scn9a	UTSW	2	66,370,874 (GRCm39)	missense	probably damaging	1.00
R8342:Scn9a	UTSW	2	66,366,626 (GRCm39)	missense	probably benign
R8345:Scn9a	UTSW	2	66,324,966 (GRCm39)	missense	probably damaging	0.96
R8464:Scn9a	UTSW	2	66,396,625 (GRCm39)	missense	probably damaging	0.99
R8467:Scn9a	UTSW	2	66,332,015 (GRCm39)	missense	probably damaging	1.00
R8698:Scn9a	UTSW	2	66,366,628 (GRCm39)	missense	probably benign	0.00
R8810:Scn9a	UTSW	2	66,332,010 (GRCm39)	missense	probably damaging	1.00
R8822:Scn9a	UTSW	2	66,370,979 (GRCm39)	missense	probably damaging	0.99
R8829:Scn9a	UTSW	2	66,313,961 (GRCm39)	missense	probably benign
R9009:Scn9a	UTSW	2	66,338,927 (GRCm39)	missense	probably damaging	1.00
R9038:Scn9a	UTSW	2	66,325,147 (GRCm39)	missense	probably damaging	1.00
R9126:Scn9a	UTSW	2	66,314,744 (GRCm39)	missense	probably damaging	1.00
R9205:Scn9a	UTSW	2	66,363,657 (GRCm39)	missense	probably damaging	1.00
R9300:Scn9a	UTSW	2	66,335,236 (GRCm39)	missense	probably benign	0.39
R9373:Scn9a	UTSW	2	66,314,261 (GRCm39)	missense	probably benign	0.00
R9404:Scn9a	UTSW	2	66,357,040 (GRCm39)	missense	probably benign	0.02
R9443:Scn9a	UTSW	2	66,395,553 (GRCm39)	missense	probably damaging	1.00
R9590:Scn9a	UTSW	2	66,314,328 (GRCm39)	missense	probably benign	0.05
R9612:Scn9a	UTSW	2	66,363,708 (GRCm39)	missense	probably damaging	1.00
R9617:Scn9a	UTSW	2	66,392,809 (GRCm39)	missense	probably damaging	1.00
R9717:Scn9a	UTSW	2	66,357,002 (GRCm39)	missense	probably benign
X0003:Scn9a	UTSW	2	66,338,991 (GRCm39)	missense	probably benign	0.02
X0062:Scn9a	UTSW	2	66,398,421 (GRCm39)	missense	probably damaging	1.00
Z1176:Scn9a	UTSW	2	66,370,936 (GRCm39)	missense	probably benign	0.00
Z1177:Scn9a	UTSW	2	66,325,029 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AAGGGAATCCATCTCTCCGCTC -3'
(R):5'- TTCACCCAGGAAGTTCAGTGG -3'

Sequencing Primer
(F):5'- CAGGACCCGCTTTGTAAAAG -3'
(R):5'- GAAGGGGACTGTGGAAATCCATC -3'

Posted On

2014-09-18