Incidental Mutation 'IGL02145:Stc2'
ID281736
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 #IGL02145
Quality Score
Status
Chromosome11
Chromosomal Location31357307-31370074 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 31367875 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020546]
Predicted Effect probably benign
Transcript: ENSMUST00000020546
SMART Domains Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agt A G 8: 124,564,448 L40P probably damaging Het
Ahnak T C 19: 9,002,855 I501T probably benign Het
Aldh2 A G 5: 121,567,993 *196Q probably null Het
Ankrd65 A G 4: 155,791,391 D23G possibly damaging Het
Anln A T 9: 22,338,996 probably null Het
Armc3 G A 2: 19,286,137 probably null Het
Armc3 C T 2: 19,296,860 S663L possibly damaging Het
Cul5 A T 9: 53,635,075 probably benign Het
Cyba T C 8: 122,425,057 I134V probably damaging Het
Cybb T A X: 9,457,018 Q93H probably damaging Het
Cyp4f37 G T 17: 32,630,035 K292N probably benign Het
Dmxl2 T C 9: 54,374,697 I2850V probably benign Het
Ep300 T C 15: 81,601,166 I118T unknown Het
Ercc6l G T X: 102,145,542 P454T probably benign Het
Grxcr1 A G 5: 68,110,478 E190G probably damaging Het
Heatr3 C T 8: 88,144,599 R194C probably benign Het
Hspa12b C T 2: 131,143,735 probably benign Het
Inpp5d T C 1: 87,715,055 V644A probably damaging Het
Kif26a G A 12: 112,176,975 R1221H probably benign Het
Klra8 T C 6: 130,125,236 N79D probably benign Het
Kntc1 T C 5: 123,762,598 I253T possibly damaging Het
Lamp5 T C 2: 136,059,589 V111A possibly damaging Het
Lmo7 T C 14: 101,902,223 S859P probably benign Het
Mgarp T C 3: 51,389,032 Q205R possibly damaging Het
Morf4l1 A G 9: 90,093,795 Y315H probably benign Het
Naip6 A T 13: 100,296,978 V1117E possibly damaging Het
Nipal1 A G 5: 72,666,931 D206G probably damaging Het
Notch3 A G 17: 32,154,741 S498P probably benign Het
Npepps A G 11: 97,218,502 probably null Het
Olfr310 C A 7: 86,269,258 C177F probably damaging Het
Olfr319 T C 11: 58,702,060 Y120H probably damaging Het
Phlpp1 A G 1: 106,389,883 H1278R probably damaging Het
Pprc1 C A 19: 46,064,890 probably benign Het
Rab8b A T 9: 66,847,718 probably benign Het
Ripor2 T A 13: 24,717,571 I875N probably damaging Het
Samd9l T C 6: 3,374,105 E1052G probably benign Het
Slit3 A T 11: 35,629,742 I569F probably damaging Het
Spata2l C T 8: 123,234,031 G173D possibly damaging Het
Tm6sf1 C A 7: 81,863,252 Y65* probably null Het
Tspan15 A G 10: 62,193,972 probably benign Het
Vmn2r14 A T 5: 109,220,588 Y179* probably null Het
Washc5 C A 15: 59,369,211 V92L probably benign Het
Wiz A G 17: 32,356,919 S838P probably benign Het
Zp2 T A 7: 120,139,851 probably null Het
Other mutations in Stc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03330:Stc2 APN 11 31369804 missense probably benign 0.01
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 On2015-04-16