Incidental Mutation 'R9146:Stc2'
ID 694654
Institutional Source Beutler Lab
Gene Symbol Stc2
Ensembl Gene ENSMUSG00000020303
Gene Name stanniocalcin 2
Synonyms mustc2, Stc2l
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R9146 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 31309441-31320061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31317847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 58 (V58A)
Ref Sequence ENSEMBL: ENSMUSP00000020546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020546]
AlphaFold O88452
Predicted Effect probably damaging
Transcript: ENSMUST00000020546
AA Change: V58A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303
AA Change: V58A

DomainStartEndE-ValueType
Pfam:Stanniocalcin 12 215 1.4e-94 PFAM
low complexity region 271 282 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (54/55)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache G A 5: 137,289,077 (GRCm39) G261D probably damaging Het
Adgrv1 T A 13: 81,561,291 (GRCm39) T5408S probably benign Het
Aff3 T C 1: 38,359,200 (GRCm39) N362D probably benign Het
Aff4 A G 11: 53,298,963 (GRCm39) N956S probably benign Het
Alg10b A G 15: 90,112,401 (GRCm39) E415G probably damaging Het
Ate1 T C 7: 130,069,022 (GRCm39) Y415C probably damaging Het
Cage1 T C 13: 38,207,005 (GRCm39) D280G probably benign Het
Catsperg1 G C 7: 28,909,912 (GRCm39) P72R probably benign Het
Cep290 A G 10: 100,377,665 (GRCm39) E1565G probably benign Het
Csmd1 T A 8: 16,048,832 (GRCm39) Y2290F probably benign Het
Cyp2c39 A T 19: 39,527,344 (GRCm39) H230L Het
Efhb A G 17: 53,769,644 (GRCm39) S222P probably benign Het
Emilin2 G A 17: 71,581,331 (GRCm39) T465M probably damaging Het
Ep400 A T 5: 110,849,635 (GRCm39) Y1431* probably null Het
Gm10912 T C 2: 103,897,053 (GRCm39) V64A possibly damaging Het
Gpat2 T C 2: 127,273,206 (GRCm39) S197P possibly damaging Het
Hc T C 2: 34,924,571 (GRCm39) Y452C probably damaging Het
Hectd4 T C 5: 121,487,097 (GRCm39) I3364T probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,474,141 (GRCm39) T4767M probably benign Het
Hspa4l A G 3: 40,736,101 (GRCm39) D595G probably benign Het
Kdm1a G T 4: 136,329,739 (GRCm39) T53K unknown Het
Kirrel1 T C 3: 87,003,015 (GRCm39) D126G probably damaging Het
Kit T A 5: 75,810,305 (GRCm39) D822E probably damaging Het
Kiz C T 2: 146,705,740 (GRCm39) T100M probably benign Het
Kmt2a T A 9: 44,725,938 (GRCm39) K3663* probably null Het
Krt8 T A 15: 101,907,370 (GRCm39) I238F probably damaging Het
Ky C T 9: 102,419,405 (GRCm39) P471S Het
Lca5l T C 16: 95,960,998 (GRCm39) E493G probably damaging Het
Lrrc2 C T 9: 110,808,582 (GRCm39) T273I probably damaging Het
Mcoln2 T C 3: 145,869,303 (GRCm39) S31P probably benign Het
Mmp1a A G 9: 7,464,997 (GRCm39) D77G probably damaging Het
Mrgprb8 T A 7: 48,039,200 (GRCm39) C290* probably null Het
Nfe2l3 G T 6: 51,410,172 (GRCm39) A96S probably damaging Het
Notch2 A G 3: 98,011,854 (GRCm39) D624G probably damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or52n2 T A 7: 104,542,452 (GRCm39) I128F probably damaging Het
Or6c7 T C 10: 129,323,392 (GRCm39) V171A possibly damaging Het
Pcdh10 G A 3: 45,334,351 (GRCm39) A222T probably benign Het
Piezo1 G A 8: 123,227,002 (GRCm39) H420Y Het
Pik3r1 C A 13: 101,825,136 (GRCm39) probably benign Het
Plcb1 T A 2: 135,182,615 (GRCm39) Y642N probably damaging Het
Ralgapa2 T A 2: 146,184,252 (GRCm39) H1538L probably benign Het
Raph1 A G 1: 60,558,137 (GRCm39) probably null Het
Rnf213 T C 11: 119,334,499 (GRCm39) F3237S Het
Sctr A G 1: 119,982,010 (GRCm39) D286G probably damaging Het
Smyd3 A G 1: 178,920,529 (GRCm39) S202P probably damaging Het
Ssh2 G A 11: 77,328,502 (GRCm39) G356E probably damaging Het
Stat3 A T 11: 100,784,492 (GRCm39) S629R probably benign Het
Tcerg1l T A 7: 137,831,588 (GRCm39) D463V probably damaging Het
Tctn1 A G 5: 122,389,745 (GRCm39) V259A possibly damaging Het
Tmem248 A G 5: 130,260,851 (GRCm39) T139A probably benign Het
Trip12 G T 1: 84,771,881 (GRCm39) A89E possibly damaging Het
Vmn2r54 C T 7: 12,366,647 (GRCm39) V96I probably benign Het
Vmn2r79 C T 7: 86,650,681 (GRCm39) Q156* probably null Het
Zfp831 C A 2: 174,487,461 (GRCm39) T712N possibly damaging Het
Zfy1 A T Y: 726,033 (GRCm39) H577Q possibly damaging Het
Zscan4-ps2 T G 7: 11,251,679 (GRCm39) S238R possibly damaging Het
Other mutations in Stc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02145:Stc2 APN 11 31,317,875 (GRCm39) splice site probably benign
IGL03330:Stc2 APN 11 31,319,804 (GRCm39) missense probably benign 0.01
R0016:Stc2 UTSW 11 31,310,177 (GRCm39) missense probably benign 0.00
R0016:Stc2 UTSW 11 31,310,177 (GRCm39) missense probably benign 0.00
R0025:Stc2 UTSW 11 31,315,559 (GRCm39) splice site probably null
R1510:Stc2 UTSW 11 31,315,418 (GRCm39) nonsense probably null
R4581:Stc2 UTSW 11 31,315,326 (GRCm39) splice site probably null
R6106:Stc2 UTSW 11 31,310,392 (GRCm39) missense probably benign
R6252:Stc2 UTSW 11 31,310,346 (GRCm39) missense probably damaging 0.98
R6675:Stc2 UTSW 11 31,310,307 (GRCm39) missense probably benign
R6797:Stc2 UTSW 11 31,315,351 (GRCm39) nonsense probably null
R7192:Stc2 UTSW 11 31,319,872 (GRCm39) start gained probably benign
R7545:Stc2 UTSW 11 31,317,799 (GRCm39) missense probably damaging 1.00
R7570:Stc2 UTSW 11 31,317,798 (GRCm39) missense probably damaging 1.00
R7846:Stc2 UTSW 11 31,315,413 (GRCm39) missense probably benign 0.13
R8057:Stc2 UTSW 11 31,317,806 (GRCm39) nonsense probably null
R8273:Stc2 UTSW 11 31,319,777 (GRCm39) missense possibly damaging 0.80
R9374:Stc2 UTSW 11 31,310,332 (GRCm39) missense probably benign 0.00
R9499:Stc2 UTSW 11 31,310,332 (GRCm39) missense probably benign 0.00
R9552:Stc2 UTSW 11 31,310,332 (GRCm39) missense probably benign 0.00
Z1176:Stc2 UTSW 11 31,310,415 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TGCTCACAAGTCTATCCAAGCC -3'
(R):5'- GGCTCTTGAACAGTAGTCCC -3'

Sequencing Primer
(F):5'- GTCTATCCAAGCCAATATTTCAACC -3'
(R):5'- GATTCTGAAATTGGCTCCAC -3'
Posted On 2022-01-20