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|Institutional Source||Beutler Lab|
|Gene Name||acid-sensing (proton-gated) ion channel 2|
|Synonyms||Mdeg, BNC1, BNaC1a, Accn1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5722 (G1)|
|Chromosomal Location||80880169-81968457 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 81967980 bp|
|Amino Acid Change||Serine to Threonine at position 69 (S69T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000067095 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066197]|
|Predicted Effect||probably benign
AA Change: S69T
PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: S69T
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mechanoreceptor and spiral ganglion electrophysiology and decreased pressure-induced blood vessel constriction. Mice homozygous for a different knock-out allele exhibit retinal degeneration and abnormal eye electrophysiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Asic2||
(F):5'- TCAGGAATCTGCAAGTTGACATC -3'
(R):5'- CCTGAAGCCAGTTGCAGAAC -3'
(F):5'- TTGACATCCAACAGGGCCAG -3'
(R):5'- TCCCGATGGACCTCAAGGAGAG -3'