Incidental Mutation 'IGL03330:Stc2'
ID416851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stc2
Ensembl Gene ENSMUSG00000020303
Gene Namestanniocalcin 2
SynonymsStc2l, mustc2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.512) question?
Stock #IGL03330
Quality Score
Status
Chromosome11
Chromosomal Location31357307-31370074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31369804 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 20 (D20G)
Ref Sequence ENSEMBL: ENSMUSP00000020546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020546]
Predicted Effect probably benign
Transcript: ENSMUST00000020546
AA Change: D20G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303
AA Change: D20G

DomainStartEndE-ValueType
Pfam:Stanniocalcin 12 215 1.4e-94 PFAM
low complexity region 271 282 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152094
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,159,428 I837V probably damaging Het
Actr2 A G 11: 20,091,330 V138A probably benign Het
Adam30 G A 3: 98,162,456 C535Y probably damaging Het
Bcor G A X: 12,058,871 T162I possibly damaging Het
Catsperd C A 17: 56,632,316 N48K possibly damaging Het
Ccr2 T C 9: 124,105,959 I92T probably damaging Het
Cp A G 3: 19,966,435 I197M probably damaging Het
Cpne3 T A 4: 19,553,774 T86S possibly damaging Het
Dnm3 A T 1: 162,320,991 D270E probably benign Het
Enpp1 C T 10: 24,664,906 probably benign Het
Ephx1 A G 1: 180,999,806 V94A possibly damaging Het
Fbxw25 T C 9: 109,645,239 M448V probably benign Het
Fhl2 A G 1: 43,153,191 L14P probably damaging Het
Gabra4 T C 5: 71,641,064 R191G probably null Het
Gtpbp6 T C 5: 110,107,063 T151A possibly damaging Het
Lars T A 18: 42,219,944 M803L probably benign Het
Myc A G 15: 61,988,149 T224A probably benign Het
Noxa1 T A 2: 25,090,514 D161V possibly damaging Het
Olfr317 A C 11: 58,732,919 L82R probably damaging Het
Olfr723 C T 14: 49,929,221 G108R probably damaging Het
Olfr965 C T 9: 39,719,488 T87I probably benign Het
Peg3 G T 7: 6,710,413 N603K probably damaging Het
Rhox4c G T X: 37,480,528 G15V probably benign Het
Sgcb T A 5: 73,639,869 S183C probably damaging Het
Slc6a19 T A 13: 73,689,560 I239F possibly damaging Het
Socs7 T C 11: 97,378,552 Y399H probably damaging Het
Tmem184b A T 15: 79,369,979 probably null Het
Tpo A G 12: 30,103,501 S285P probably damaging Het
Vmn2r27 G T 6: 124,230,180 Y167* probably null Het
Other mutations in Stc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02145:Stc2 APN 11 31367875 splice site probably benign
R0016:Stc2 UTSW 11 31360177 missense probably benign 0.00
R0016:Stc2 UTSW 11 31360177 missense probably benign 0.00
R0025:Stc2 UTSW 11 31365559 intron probably null
R1510:Stc2 UTSW 11 31365418 nonsense probably null
R4581:Stc2 UTSW 11 31365326 splice site probably null
R6106:Stc2 UTSW 11 31360392 missense probably benign
R6252:Stc2 UTSW 11 31360346 missense probably damaging 0.98
R6675:Stc2 UTSW 11 31360307 missense probably benign
R6797:Stc2 UTSW 11 31365351 nonsense probably null
R7192:Stc2 UTSW 11 31369872 start gained probably benign
R7545:Stc2 UTSW 11 31367799 missense probably damaging 1.00
R7570:Stc2 UTSW 11 31367798 missense probably damaging 1.00
R7846:Stc2 UTSW 11 31365413 missense probably benign 0.13
R7929:Stc2 UTSW 11 31365413 missense probably benign 0.13
R8057:Stc2 UTSW 11 31367806 nonsense probably null
Z1176:Stc2 UTSW 11 31360415 missense possibly damaging 0.93
Posted On2016-08-02