|Institutional Source||Beutler Lab|
|Gene Name||pannexin 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1895 (G1)|
|Chromosomal Location||15002128-15045478 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 15007526 bp (GRCm38)|
|Amino Acid Change||Cysteine to Arginine at position 346 (C346R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126405 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056755] [ENSMUST00000164273] [ENSMUST00000169288]|
AA Change: C346R
PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: C346R
|Meta Mutation Damage Score||0.1266|
|Coding Region Coverage||
|Validation Efficiency||96% (100/104)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage recruitment, YO-PRO-1 dye uptake, ATP release by apoptotic thymocytes, hippocampal neurons, and astrocytes. Mice homozygous for a different knock-out allele exhibit protection from I/R-induced retinal ganglion cell loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Panx1||
(F):5'- AAAAGGTGTGCCTGCTCAGAG -3'
(R):5'- AACCTCATTGTGTATGCTCTGC -3'
(F):5'- GAGAGCCCACCCTACCTTTG -3'
(R):5'- ATGCTCTGCTGATTCCCGTGG -3'