|Institutional Source||Beutler Lab|
|Gene Name||R-spondin 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0718 (G1)|
|Chromosomal Location||124986430-125009099 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 125007149 bp|
|Amino Acid Change||Cysteine to Serine at position 97 (C97S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030687 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030687]|
|Predicted Effect||possibly damaging
AA Change: C97S
PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: C97S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9585|
|Coding Region Coverage||
|Validation Efficiency||100% (96/96)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous inactivation of this gene leads to abnormal ovarian development and masculinized features including pseudohermaphroditism in genital ducts, depletion of fetal oocytes, male-like vascularization, and ectopic testosterone production in the ovaries. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rspo1||
(F):5'- TGTCTGTCTGTCCCAAGCTCAGAAG -3'
(R):5'- AATCCCAACAGGTTGTTCCAGAAGG -3'
(F):5'- TGGACCTCATATTGAGTCCCAAG -3'
(R):5'- ccttgtccccacccctg -3'