Incidental Mutation 'R6797:Stc2'
ID 533058
Institutional Source Beutler Lab
Gene Symbol Stc2
Ensembl Gene ENSMUSG00000020303
Gene Name stanniocalcin 2
Synonyms mustc2, Stc2l
MMRRC Submission 044910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R6797 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 31309441-31320061 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 31315351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 163 (K163*)
Ref Sequence ENSEMBL: ENSMUSP00000020546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020546]
AlphaFold O88452
Predicted Effect probably null
Transcript: ENSMUST00000020546
AA Change: K163*
SMART Domains Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303
AA Change: K163*

DomainStartEndE-ValueType
Pfam:Stanniocalcin 12 215 1.4e-94 PFAM
low complexity region 271 282 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 100% (42/42)
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
Akr1c18 T A 13: 4,195,276 (GRCm39) I61L probably benign Het
Angptl2 T C 2: 33,118,277 (GRCm39) V17A probably benign Het
Casp14 T C 10: 78,550,975 (GRCm39) D70G possibly damaging Het
Cckbr A G 7: 105,083,773 (GRCm39) M234V possibly damaging Het
Cd93 T C 2: 148,284,044 (GRCm39) N434S probably benign Het
Cenpe A T 3: 134,943,899 (GRCm39) Q938L possibly damaging Het
Col6a3 A C 1: 90,731,810 (GRCm39) V1481G probably damaging Het
Dnah5 G T 15: 28,233,384 (GRCm39) E248* probably null Het
Dnah5 G A 15: 28,451,609 (GRCm39) R4349Q probably damaging Het
F11 A G 8: 45,706,092 (GRCm39) Y98H probably benign Het
Fen1 A G 19: 10,178,067 (GRCm39) F126L probably benign Het
Gpr146 G A 5: 139,378,795 (GRCm39) G199D possibly damaging Het
Gramd1b A G 9: 40,219,702 (GRCm39) I324T probably benign Het
H2bc12 A T 13: 22,220,259 (GRCm39) N68I probably benign Het
Hivep1 C A 13: 42,310,557 (GRCm39) S932R probably benign Het
Hk3 A T 13: 55,158,644 (GRCm39) probably null Het
Hspbp1 T A 7: 4,663,781 (GRCm39) M355L possibly damaging Het
Jaml T C 9: 45,000,058 (GRCm39) C77R probably damaging Het
Kmt2e A G 5: 23,687,505 (GRCm39) N452D possibly damaging Het
Krt5 T C 15: 101,621,076 (GRCm39) Y57C unknown Het
Lipn A T 19: 34,058,160 (GRCm39) M294L probably benign Het
Magel2 A G 7: 62,029,907 (GRCm39) E937G unknown Het
Med13l G A 5: 118,897,329 (GRCm39) probably null Het
Mrgprb8 G A 7: 48,038,892 (GRCm39) V188I probably benign Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Ofcc1 C T 13: 40,241,423 (GRCm39) R695Q possibly damaging Het
Or11h23 T A 14: 50,948,563 (GRCm39) Y259N probably damaging Het
Or52ab7 G A 7: 102,978,328 (GRCm39) V212I probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pak5 A T 2: 135,939,454 (GRCm39) H560Q probably damaging Het
Pigg T C 5: 108,480,694 (GRCm39) S493P probably damaging Het
Ppp6r3 A G 19: 3,564,719 (GRCm39) W185R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sacs T A 14: 61,450,522 (GRCm39) D4189E probably damaging Het
Serpinb9b A G 13: 33,213,467 (GRCm39) N8S possibly damaging Het
Slit3 A G 11: 35,524,779 (GRCm39) T730A possibly damaging Het
Srgap3 A T 6: 112,806,503 (GRCm39) F53I probably damaging Het
Tasor2 T C 13: 3,626,769 (GRCm39) I1060M probably benign Het
Tlk1 T A 2: 70,568,770 (GRCm39) K411* probably null Het
Ttc27 G T 17: 75,036,883 (GRCm39) L185F probably benign Het
Vmn2r102 C T 17: 19,880,694 (GRCm39) Q12* probably null Het
Vmn2r95 C T 17: 18,672,551 (GRCm39) probably benign Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Wdr64 T A 1: 175,638,176 (GRCm39) probably null 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
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
R9146:Stc2 UTSW 11 31,317,847 (GRCm39) missense probably damaging 0.98
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'- AACCAGTTGGGACTTGGCTAG -3'
(R):5'- TTCATCAAGGATGCCCTGAG -3'

Sequencing Primer
(F):5'- CAAATCTGATGATCTTCTGGGGG -3'
(R):5'- TGAGGTGCAAGGCCCATG -3'
Posted On 2018-08-29