|Institutional Source||Beutler Lab|
|Gene Name||stanniocalcin 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.316)|
|Stock #||R0016 (G1)|
|Chromosomal Location||31357307-31370074 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 31360177 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 286 (D286E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020546 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020546]|
|Predicted Effect||probably benign
AA Change: D286E
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: D286E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are 10-15% larger and grow at a faster rate than wild-type controls from 4 weeks onward. The increased body weight results from an increase in the weight of most major organs, with the exception of testis. Mean alkaline phosphatase levels are 144% of wild-type levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stc2||
(F):5'- TGCACGAAGTCCACAATTTGCAC -3'
(R):5'- TTGTGAACCTGCTGCTGACCTG -3'
(F):5'- ATTTGCACACATCCAGCGTG -3'
(R):5'- TCCAGGCTCAGTGTGAACAG -3'