Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Scn11a'

227243

Institutional Source

Beutler Lab

Gene Symbol

Scn11a

Ensembl Gene

ENSMUSG00000034115

Gene Name

sodium channel, voltage-gated, type XI, alpha

Synonyms

NaN, NSS2, NaT, SNS2

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119582829-119654522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119640274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 207 (A207E)

Ref Sequence

ENSEMBL: ENSMUSP00000149420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070617] [ENSMUST00000215718]

AlphaFold

Q9R053

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070617
AA Change: A207E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065466
Gene: ENSMUSG00000034115
AA Change: A207E

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
Pfam:Ion_trans	128	409	1.1e-72	PFAM
low complexity region	475	487	N/A	INTRINSIC
Pfam:Ion_trans	574	810	4e-57	PFAM
Pfam:Na_trans_assoc	814	1030	4.1e-29	PFAM
Pfam:Ion_trans	1034	1300	5.7e-66	PFAM
Pfam:Ion_trans	1346	1595	3e-58	PFAM
low complexity region	1683	1694	N/A	INTRINSIC
low complexity region	1733	1744	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215718
AA Change: A207E

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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 with 24 transmembrane domains 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 alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous and heterozygous for one null allele display decreased duration of inflammation induced thermal hyperalgesia and decreased late phase pain responses to inflammatory stimuli. Mice homozygous for a second allele appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 64,056,080 (GRCm39)	R272P	possibly damaging	Het
Ablim3	A	T	18: 61,990,159 (GRCm39)	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Adamts13	C	A	2: 26,895,437 (GRCm39)	T1176N	probably benign	Het
Adgre5	T	C	8: 84,454,433 (GRCm39)	T357A	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,017,517 (GRCm39)	V310A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,151,522 (GRCm39)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,007,242 (GRCm39)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chrdl1	T	C	X: 142,086,414 (GRCm39)	I231V	probably benign	Het
Ciita	C	T	16: 10,336,217 (GRCm39)	T958I	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,828,370 (GRCm39)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,969,765 (GRCm39)	R524C	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,408,309 (GRCm39)	M453V	probably benign	Het
Ednrb	G	T	14: 104,054,535 (GRCm39)	N432K	probably benign	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,779,241 (GRCm39)	K306R	probably benign	Het
Fmo4	A	G	1: 162,637,456 (GRCm39)	V12A	probably benign	Het
Fpgt	T	C	3: 154,793,511 (GRCm39)	Y172C	probably damaging	Het
Fsip2	T	A	2: 82,839,159 (GRCm39)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm39)	R205*	probably null	Het
Grik5	A	T	7: 24,714,738 (GRCm39)	M752K	possibly damaging	Het
Herc2	A	G	7: 55,876,712 (GRCm39)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,469,744 (GRCm39)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,346,831 (GRCm39)	T609A	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Lgi2	A	G	5: 52,695,847 (GRCm39)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,944,925 (GRCm39)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,328,005 (GRCm39)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,330,848 (GRCm39)	L3V	unknown	Het
Or12j2	T	C	7: 139,916,566 (GRCm39)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,808,557 (GRCm39)	T145K	probably benign	Het
Or5b102	A	T	19: 13,041,044 (GRCm39)	M90L	probably benign	Het
Otogl	C	T	10: 107,616,904 (GRCm39)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,566,798 (GRCm39)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 126,488,481 (GRCm39)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,042,654 (GRCm39)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,386,520 (GRCm39)		probably null	Het
Prune1	C	T	3: 95,162,719 (GRCm39)	R318Q	probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Psg27	A	G	7: 18,298,934 (GRCm39)	L129P	probably benign	Het
Psmc6	A	G	14: 45,567,323 (GRCm39)	K7E	possibly damaging	Het
Reln	A	T	5: 22,124,175 (GRCm39)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm39)		probably null	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smg1	T	C	7: 117,762,389 (GRCm39)		probably benign	Het
Smurf2	T	A	11: 106,732,595 (GRCm39)	Q335L	probably benign	Het
Sspo	A	T	6: 48,450,451 (GRCm39)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,419,833 (GRCm39)	I276T	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar9	A	T	10: 23,984,877 (GRCm39)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,767,166 (GRCm39)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,286,432 (GRCm39)	T1091A	probably benign	Het
Ttn	G	T	2: 76,768,120 (GRCm39)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,686,878 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,840,638 (GRCm39)	E671G	probably benign	Het
Upf3a	A	G	8: 13,835,850 (GRCm39)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,182,493 (GRCm39)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,813,279 (GRCm39)	R549*	probably null	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp747	T	A	7: 126,973,142 (GRCm39)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,275,137 (GRCm39)	Q161L	unknown	Het

Other mutations in Scn11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Scn11a	APN	9	119,599,572 (GRCm39)	missense	probably benign	0.00
IGL00272:Scn11a	APN	9	119,645,669 (GRCm39)	missense	probably damaging	0.98
IGL00332:Scn11a	APN	9	119,598,982 (GRCm39)	missense	probably damaging	1.00
IGL00533:Scn11a	APN	9	119,603,447 (GRCm39)	missense	probably damaging	1.00
IGL00972:Scn11a	APN	9	119,623,004 (GRCm39)	missense	probably benign	0.44
IGL01338:Scn11a	APN	9	119,613,227 (GRCm39)	splice site	probably benign
IGL01534:Scn11a	APN	9	119,609,888 (GRCm39)	missense	probably benign	0.27
IGL01838:Scn11a	APN	9	119,587,649 (GRCm39)	missense	probably damaging	1.00
IGL01991:Scn11a	APN	9	119,648,970 (GRCm39)	missense	probably damaging	0.97
IGL02057:Scn11a	APN	9	119,594,536 (GRCm39)	missense	probably damaging	1.00
IGL02290:Scn11a	APN	9	119,603,508 (GRCm39)	missense	probably damaging	0.97
IGL02454:Scn11a	APN	9	119,587,610 (GRCm39)	missense	probably benign	0.00
IGL02517:Scn11a	APN	9	119,621,464 (GRCm39)	missense	probably damaging	1.00
IGL02567:Scn11a	APN	9	119,633,555 (GRCm39)	missense	probably damaging	0.99
IGL02587:Scn11a	APN	9	119,634,750 (GRCm39)	missense	probably damaging	1.00
IGL03069:Scn11a	APN	9	119,619,029 (GRCm39)	missense	probably benign	0.16
IGL03171:Scn11a	APN	9	119,648,913 (GRCm39)	missense	probably benign	0.00
Kleinie	UTSW	9	119,632,569 (GRCm39)	missense	probably benign	0.16
H8441:Scn11a	UTSW	9	119,636,976 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Scn11a	UTSW	9	119,599,014 (GRCm39)	missense	probably damaging	1.00
R0304:Scn11a	UTSW	9	119,648,928 (GRCm39)	missense	probably benign	0.00
R0519:Scn11a	UTSW	9	119,619,185 (GRCm39)	missense	probably damaging	1.00
R0658:Scn11a	UTSW	9	119,640,226 (GRCm39)	missense	probably benign	0.41
R0828:Scn11a	UTSW	9	119,584,073 (GRCm39)	missense	probably benign	0.00
R0893:Scn11a	UTSW	9	119,632,396 (GRCm39)	splice site	probably null
R0932:Scn11a	UTSW	9	119,636,876 (GRCm39)	missense	probably damaging	1.00
R1061:Scn11a	UTSW	9	119,624,729 (GRCm39)	missense	probably damaging	0.98
R1161:Scn11a	UTSW	9	119,584,123 (GRCm39)	nonsense	probably null
R1162:Scn11a	UTSW	9	119,634,710 (GRCm39)	splice site	probably benign
R1310:Scn11a	UTSW	9	119,584,123 (GRCm39)	nonsense	probably null
R1589:Scn11a	UTSW	9	119,598,873 (GRCm39)	missense	probably damaging	1.00
R1681:Scn11a	UTSW	9	119,633,478 (GRCm39)	missense	possibly damaging	0.46
R1781:Scn11a	UTSW	9	119,584,148 (GRCm39)	missense	probably damaging	1.00
R1812:Scn11a	UTSW	9	119,609,931 (GRCm39)	nonsense	probably null
R1901:Scn11a	UTSW	9	119,608,102 (GRCm39)	nonsense	probably null
R1978:Scn11a	UTSW	9	119,609,861 (GRCm39)	nonsense	probably null
R1985:Scn11a	UTSW	9	119,583,744 (GRCm39)	missense	probably benign	0.19
R2022:Scn11a	UTSW	9	119,640,274 (GRCm39)	missense	possibly damaging	0.88
R2098:Scn11a	UTSW	9	119,621,560 (GRCm39)	missense	possibly damaging	0.67
R2163:Scn11a	UTSW	9	119,584,091 (GRCm39)	missense	probably damaging	1.00
R2250:Scn11a	UTSW	9	119,587,668 (GRCm39)	missense	probably benign	0.01
R2373:Scn11a	UTSW	9	119,642,252 (GRCm39)	missense	probably benign	0.43
R2508:Scn11a	UTSW	9	119,594,595 (GRCm39)	missense	probably damaging	1.00
R3757:Scn11a	UTSW	9	119,632,569 (GRCm39)	missense	probably benign	0.16
R3767:Scn11a	UTSW	9	119,613,115 (GRCm39)	missense	probably damaging	1.00
R3770:Scn11a	UTSW	9	119,613,115 (GRCm39)	missense	probably damaging	1.00
R4089:Scn11a	UTSW	9	119,624,719 (GRCm39)	splice site	probably null
R4092:Scn11a	UTSW	9	119,619,036 (GRCm39)	missense	probably benign	0.03
R4247:Scn11a	UTSW	9	119,636,952 (GRCm39)	missense	probably damaging	1.00
R4279:Scn11a	UTSW	9	119,583,428 (GRCm39)	missense	probably benign	0.25
R4299:Scn11a	UTSW	9	119,594,572 (GRCm39)	missense	probably damaging	0.97
R4403:Scn11a	UTSW	9	119,624,733 (GRCm39)	missense	probably damaging	1.00
R4468:Scn11a	UTSW	9	119,584,053 (GRCm39)	missense	probably damaging	1.00
R4542:Scn11a	UTSW	9	119,584,200 (GRCm39)	missense	probably damaging	1.00
R4644:Scn11a	UTSW	9	119,644,269 (GRCm39)	splice site	probably null
R4739:Scn11a	UTSW	9	119,583,627 (GRCm39)	missense	probably benign	0.39
R4809:Scn11a	UTSW	9	119,648,936 (GRCm39)	missense	probably benign	0.00
R4954:Scn11a	UTSW	9	119,587,725 (GRCm39)	missense	possibly damaging	0.84
R5012:Scn11a	UTSW	9	119,609,944 (GRCm39)	missense	probably benign	0.31
R5044:Scn11a	UTSW	9	119,648,897 (GRCm39)	missense	probably damaging	0.98
R5222:Scn11a	UTSW	9	119,644,268 (GRCm39)	splice site	probably null
R5224:Scn11a	UTSW	9	119,583,858 (GRCm39)	missense	probably damaging	1.00
R5400:Scn11a	UTSW	9	119,598,974 (GRCm39)	missense	probably damaging	0.97
R5555:Scn11a	UTSW	9	119,584,304 (GRCm39)	missense	probably damaging	1.00
R5711:Scn11a	UTSW	9	119,618,990 (GRCm39)	missense	probably damaging	1.00
R5950:Scn11a	UTSW	9	119,640,190 (GRCm39)	missense	probably damaging	1.00
R5984:Scn11a	UTSW	9	119,613,082 (GRCm39)	missense	probably benign
R6057:Scn11a	UTSW	9	119,594,514 (GRCm39)	missense	probably damaging	1.00
R6104:Scn11a	UTSW	9	119,624,744 (GRCm39)	missense	probably damaging	1.00
R6180:Scn11a	UTSW	9	119,583,933 (GRCm39)	missense	probably benign	0.00
R6892:Scn11a	UTSW	9	119,636,035 (GRCm39)	missense	possibly damaging	0.53
R6908:Scn11a	UTSW	9	119,621,492 (GRCm39)	missense	probably damaging	1.00
R6949:Scn11a	UTSW	9	119,594,580 (GRCm39)	missense	probably benign	0.04
R7112:Scn11a	UTSW	9	119,583,875 (GRCm39)	missense	probably damaging	1.00
R7232:Scn11a	UTSW	9	119,588,982 (GRCm39)	missense	probably damaging	1.00
R7261:Scn11a	UTSW	9	119,648,899 (GRCm39)	missense	probably damaging	0.99
R7265:Scn11a	UTSW	9	119,644,331 (GRCm39)	missense	probably damaging	1.00
R7302:Scn11a	UTSW	9	119,636,017 (GRCm39)	missense	probably benign	0.03
R7391:Scn11a	UTSW	9	119,624,783 (GRCm39)	missense	probably damaging	1.00
R7441:Scn11a	UTSW	9	119,587,692 (GRCm39)	missense	probably benign	0.01
R7479:Scn11a	UTSW	9	119,588,941 (GRCm39)	missense	probably benign	0.38
R7608:Scn11a	UTSW	9	119,644,379 (GRCm39)	splice site	probably null
R7768:Scn11a	UTSW	9	119,644,338 (GRCm39)	missense	probably benign	0.13
R7785:Scn11a	UTSW	9	119,645,622 (GRCm39)	missense	probably benign	0.00
R7794:Scn11a	UTSW	9	119,594,580 (GRCm39)	missense	probably damaging	0.99
R7818:Scn11a	UTSW	9	119,613,177 (GRCm39)	missense	probably damaging	0.97
R7884:Scn11a	UTSW	9	119,633,617 (GRCm39)	missense	probably benign	0.01
R7988:Scn11a	UTSW	9	119,594,503 (GRCm39)	missense	probably damaging	0.97
R8049:Scn11a	UTSW	9	119,584,149 (GRCm39)	missense	probably damaging	1.00
R8127:Scn11a	UTSW	9	119,633,578 (GRCm39)	missense	probably damaging	1.00
R8274:Scn11a	UTSW	9	119,632,548 (GRCm39)	missense	probably benign
R8344:Scn11a	UTSW	9	119,611,036 (GRCm39)	missense	probably benign	0.00
R8346:Scn11a	UTSW	9	119,608,047 (GRCm39)	missense	probably damaging	1.00
R8511:Scn11a	UTSW	9	119,618,981 (GRCm39)	missense	probably damaging	0.99
R8819:Scn11a	UTSW	9	119,645,586 (GRCm39)	missense	probably benign	0.19
R8820:Scn11a	UTSW	9	119,645,586 (GRCm39)	missense	probably benign	0.19
R8837:Scn11a	UTSW	9	119,621,410 (GRCm39)	missense	probably damaging	1.00
R8913:Scn11a	UTSW	9	119,623,094 (GRCm39)	missense	probably damaging	1.00
R8915:Scn11a	UTSW	9	119,603,363 (GRCm39)	nonsense	probably null
R8975:Scn11a	UTSW	9	119,587,565 (GRCm39)	missense	probably damaging	1.00
R9156:Scn11a	UTSW	9	119,588,989 (GRCm39)	missense	possibly damaging	0.75
R9222:Scn11a	UTSW	9	119,611,013 (GRCm39)	missense	probably damaging	0.98
R9355:Scn11a	UTSW	9	119,584,160 (GRCm39)	missense	probably damaging	1.00
R9486:Scn11a	UTSW	9	119,624,774 (GRCm39)	missense	possibly damaging	0.86
R9712:Scn11a	UTSW	9	119,619,076 (GRCm39)	nonsense	probably null
R9766:Scn11a	UTSW	9	119,584,181 (GRCm39)	missense	probably damaging	1.00
Z1088:Scn11a	UTSW	9	119,584,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,648,886 (GRCm39)	missense	probably damaging	1.00
Z1177:Scn11a	UTSW	9	119,584,064 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACCACAGCCACCACCTCC -3'
(R):5'- AGGCAGAGACAGAAAGATCCCC -3'

Sequencing Primer
(F):5'- GCCACCACCTCCACCTC -3'
(R):5'- GAGACAGAAAGATCCCCTGCTTG -3'

Posted On

2014-09-17