|Institutional Source||Beutler Lab|
|Gene Name||matrilin 3|
|Is this an essential gene?||Probably non essential (E-score: 0.100)|
|Stock #||R7065 (G1)|
|Chromosomal Location||8947929-8972028 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 8952472 bp|
|Amino Acid Change||Methionine to Lysine at position 228 (M228K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020899 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020899]|
|Predicted Effect||probably damaging
AA Change: M228K
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: M228K
|Meta Mutation Damage Score||0.8998|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Matn3||
(F):5'- TCAACAGGCACCATGTCAG -3'
(R):5'- AACATCCTCGCTAGCTAGAAGC -3'
(F):5'- ATGTCAGGGCTAGCTATCCAGAC -3'
(R):5'- TATCCTCGCTAGCTGGAA -3'