|Institutional Source||Beutler Lab|
|Gene Name||mesoderm posterior 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1614 (G1)|
|Chromosomal Location||79810727-79813439 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 79811619 bp|
|Amino Acid Change||Serine to Proline at position 231 (S231P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103017 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000107394]|
|Predicted Effect||probably benign
AA Change: S231P
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: S231P
|Meta Mutation Damage Score||0.1169|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit absence of segmented somites, fused vertebral columns and dorsal root ganglia, and impaired sclerotomal polarity. Mutants die shortly after birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mesp2||
(F):5'- TAGCCTGGGATCAGCCATGAGTAG -3'
(R):5'- TCCCTTCATTGGATAACCTGGGACC -3'
(F):5'- TCAGCCATGAGTAGTGGGG -3'
(R):5'- GAGAGACCGTCCACTTTAGTTC -3'