|Institutional Source||Beutler Lab|
|Gene Name||matrix metallopeptidase 24|
|Synonyms||Membrane type 5-MMP, MT5-MMP|
|Is this an essential gene?||Probably non essential (E-score: 0.138)|
|Stock #||R5020 (G1)|
|Chromosomal Location||155775342-155818366 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 155810284 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 304 (E304G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029141 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029141]|
|Predicted Effect||probably benign
AA Change: E304G
PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: E304G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0830|
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein do not develop neuropathic pain with mechanical allodynia after sciatic nerve injury, display enhanced sensitivity to noxious thermal stimuli under basal conditions, and develop hyperalgesia during inflammation. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene fail to develop neuropathic pain after peripheral nerve injury. They also experience reduced stress and enhanced mechanical coordination. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmp24||
(F):5'- CCAGAGCTGTTTCCATTTGTG -3'
(R):5'- GATCGCTCTCCGTACCTTGAAC -3'
(F):5'- CCATTTGTGTTCTCAGAGACGG -3'
(R):5'- TCGGAAGAGGGCCACTGTG -3'