|Institutional Source||Beutler Lab|
|Gene Name||multimerin 2|
|Synonyms||Emilin3, EndoGlyx-1, ENDOGLYX1|
|Is this an essential gene?||Probably non essential (E-score: 0.052)|
|Stock #||R1422 (G1)|
|Chromosomal Location||34375465-34404287 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 34396239 bp|
|Amino Acid Change||Histidine to Arginine at position 80 (H80R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000107539 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000111908]|
|Predicted Effect||probably damaging
AA Change: H80R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H80R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0923|
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mmrn2||
(F):5'- CGTGGCTTTGGGAAGACAATGAATG -3'
(R):5'- AGAGATCAGCACCTTCTGCTGGAC -3'
(F):5'- GGTTTCAAGAATCTCAGAGCTG -3'
(R):5'- GACCTGGTACACTGGCTTCTG -3'