|Institutional Source||Beutler Lab|
|Gene Name||dentin sialophosphoprotein|
|Synonyms||Dmp3, Dsp, Dpp|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5008 (G1)|
|Chromosomal Location||104170712-104180127 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 104175573 bp|
|Amino Acid Change||Histidine to Leucine at position 194 (H194L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108391 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000112771]|
|Predicted Effect||possibly damaging
AA Change: H194L
PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: H194L
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||97% (73/75)|
FUNCTION: This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mice lacking the encoded protein exhibit hypomineralization defects in dentin, similar to human dentinogenesis imperfecta. [provided by RefSeq, Feb 2016]
PHENOTYPE: Aging mice homozygous for a reporter/null allele display tooth abnormalities, including enlarged pulp cavities, a widened predentin zone, dentin hypomineralization, pulp exposure, and occasional brittle incisors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dspp||
(F):5'- CATGATGGGGTACATGCGAG -3'
(R):5'- ACCAGAGCCTGTATCTTCATCC -3'
(F):5'- GCAAATGGCATCAGGAGCC -3'
(R):5'- AGAGCCTGTATCTTCATCCTCCTC -3'