|Institutional Source||Beutler Lab|
|Gene Name||meprin 1 beta|
|Synonyms||Mep-1b, meprin beta|
|Is this an essential gene?||Probably non essential (E-score: 0.171)|
|Stock #||R7217 (G1)|
|Chromosomal Location||21072344-21100199 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 21093543 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 487 (D487E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000082235]|
|Predicted Effect||probably benign
AA Change: D487E
PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: D487E
|Meta Mutation Damage Score||0.0871|
|Coding Region Coverage||
|Validation Efficiency||91% (40/44)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit 50% prenatal lethality; survivors have reduced birth weight and show altered renal gene expression, but otherwise are apparently normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mep1b||
(F):5'- GTCATCAGGTGGTCTGTCTATC -3'
(R):5'- CTCCTTGAACAATCATCATGGCC -3'
(F):5'- GGTCTGTCTATCGATGACATCAATC -3'
(R):5'- TTGAACAATCATCATGGCCCTAGC -3'