|Institutional Source||Beutler Lab|
|Gene Name||sodium channel, voltage-gated, type XI, alpha|
|Synonyms||NaN, NSS2, NaT, SNS2|
|Is this an essential gene?||Probably non essential (E-score: 0.096)|
|Stock #||R8274 (G1)|
|Chromosomal Location||119753759-119825456 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 119803482 bp|
|Amino Acid Change||Threonine to Alanine at position 441 (T441A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065466 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070617]|
|Predicted Effect||probably benign
AA Change: T441A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T441A
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
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||
|Other mutations in Scn11a||
(F):5'- TAGGTCCCAGGAGAAGACTTAC -3'
(R):5'- GGACAATAGCAAGGCCTGTG -3'
(F):5'- CCCAGGAGAAGACTTACGTTTTTAG -3'
(R):5'- TAGCAAGGCCTGTGTTAAAACC -3'