|Institutional Source||Beutler Lab|
|Gene Name||R-spondin 3|
|Synonyms||2810459H04Rik, Thsd2, Cristin1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R5031 (G1)|
|Chromosomal Location||29452416-29535867 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 29506447 bp (GRCm38)|
|Amino Acid Change||Leucine to Histidine at position 77 (L77H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000090287 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092623]|
AA Change: L77H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L77H
|Meta Mutation Damage Score||0.9187|
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, embryonic growth arrest, and impaired fetal placental vascular development. Mice homozygous for a conditional allele activated in limbs exhibit slight limb shortening. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rspo3||
(F):5'- TCCTGAGGGCTAAGTCTATGTG -3'
(R):5'- TGAATCTTATGTCCACAGTCTAACC -3'
(F):5'- GCTAAGTCTATGTGTGTCTTTTCC -3'
(R):5'- GTCCACAGTCTAACCTCTCTTTTTG -3'