|Institutional Source||Beutler Lab|
|Gene Name||proline arginine-rich end leucine-rich repeat|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7644 (G1)|
|Chromosomal Location||133910304-133921414 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 133914618 bp|
|Amino Acid Change||Asparagine to Serine at position 263 (N263S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048803 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048432]|
|Predicted Effect||probably benign
AA Change: N263S
PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: N263S
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prelp||
(F):5'- TTCCTGAGAAAGTGTGGCTG -3'
(R):5'- CCTGGATCTGCAGCACAATC -3'
(F):5'- AGAAAGTGTGGCTGCCCCG -3'
(R):5'- ATCTGCAGCACAATCGGCTG -3'