|Institutional Source||Beutler Lab|
|Gene Name||proteoglycan 2, bone marrow|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6972 (G1)|
|Chromosomal Location||84980461-84983632 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 84982273 bp|
|Amino Acid Change||Arginine to Histidine at position 109 (R109H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028467 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028467]|
|Predicted Effect||probably benign
AA Change: R109H
PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: R109H
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype although fine structure changes occur in eosinophils. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prg2||
(F):5'- GAGAACTTGCCTAGGGATGCAG -3'
(R):5'- GCTACAGCCATTAGAAGACAGC -3'
(F):5'- CTTGCCTAGGGATGCAGAGATATC -3'
(R):5'- TACAGCCATTAGAAGACAGCAGAGC -3'