|Institutional Source||Beutler Lab|
|Gene Name||collagen, type IV, alpha 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2044 (G1)|
|Chromosomal Location||82586921-82722059 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 82696319 bp|
|Amino Acid Change||Glycine to Glutamic Acid at position 1132 (G1132E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109084 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113457]|
AA Change: G1132E
AA Change: G1132E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9411|
|Coding Region Coverage||
|Validation Efficiency||98% (92/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col4a3||
(F):5'- GGTTTCCAGGAGAATGCTTTTCAG -3'
(R):5'- TCCTGAGATGACCATGATACTGAC -3'
(F):5'- AGGTGACCTGTCAGGAATTTCC -3'
(R):5'- CTGACAGATACTTCAATTAGGGAGTG -3'