Incidental Mutation 'R6675:Stc2'
ID 527254
Institutional Source Beutler Lab
Gene Symbol Stc2
Ensembl Gene ENSMUSG00000020303
Gene Name stanniocalcin 2
Synonyms mustc2, Stc2l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # R6675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 31309441-31320061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31310307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 243 (D243V)
Ref Sequence ENSEMBL: ENSMUSP00000020546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020546]
AlphaFold O88452
Predicted Effect probably benign
Transcript: ENSMUST00000020546
AA Change: D243V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303
AA Change: D243V

DomainStartEndE-ValueType
Pfam:Stanniocalcin 12 215 1.4e-94 PFAM
low complexity region 271 282 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139991
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,006,302 (GRCm39) T1268A probably benign Het
Adamts20 A G 15: 94,229,197 (GRCm39) probably null Het
Arhgap45 G T 10: 79,853,938 (GRCm39) D151Y probably null Het
Arhgef40 C A 14: 52,229,098 (GRCm39) L592I probably damaging Het
Ascc3 G T 10: 50,626,659 (GRCm39) E1720* probably null Het
Atp2c1 C T 9: 105,330,732 (GRCm39) probably null Het
Avpi1 G A 19: 42,112,183 (GRCm39) P125L probably benign Het
Cers3 A T 7: 66,435,844 (GRCm39) T232S possibly damaging Het
Cfap53 T C 18: 74,440,447 (GRCm39) probably null Het
Col4a3 T C 1: 82,646,646 (GRCm39) S386P unknown Het
Dhtkd1 A T 2: 5,908,889 (GRCm39) M735K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gad2 T C 2: 22,563,997 (GRCm39) V400A possibly damaging Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Hmgxb3 T G 18: 61,270,648 (GRCm39) D892A possibly damaging Het
Hsd3b2 G A 3: 98,620,788 (GRCm39) T89I probably benign Het
Iars1 C A 13: 49,873,054 (GRCm39) A713D probably damaging Het
Itih1 G A 14: 30,651,798 (GRCm39) T848I possibly damaging Het
Kcne2 A G 16: 92,093,512 (GRCm39) D13G probably benign Het
Klra17 T A 6: 129,849,286 (GRCm39) N96I probably damaging Het
Lrig2 T C 3: 104,365,251 (GRCm39) N634D probably benign Het
Mrc2 T A 11: 105,233,906 (GRCm39) probably null Het
Mroh3 A T 1: 136,118,550 (GRCm39) S558T possibly damaging Het
Ncapg2 G T 12: 116,398,281 (GRCm39) K627N possibly damaging Het
Ncstn A T 1: 171,899,095 (GRCm39) D345E probably damaging Het
Nkx1-1 G T 5: 33,591,223 (GRCm39) A33E unknown Het
Or2n1 T A 17: 38,486,905 (GRCm39) M310K probably benign Het
Or51f2 A G 7: 102,526,480 (GRCm39) E51G possibly damaging Het
Osbpl9 G T 4: 108,991,025 (GRCm39) probably null Het
P2rx6 T C 16: 17,380,032 (GRCm39) V52A probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Pdk2 T C 11: 94,919,568 (GRCm39) I273V probably benign Het
Pdpr C T 8: 111,828,532 (GRCm39) Q12* probably null Het
Plxdc2 A G 2: 16,716,932 (GRCm39) T339A probably benign Het
Pramel27 G A 4: 143,579,828 (GRCm39) C471Y probably damaging Het
Retsat T C 6: 72,578,672 (GRCm39) V128A probably benign Het
Rnf17 A G 14: 56,697,432 (GRCm39) E442G probably damaging Het
Sec31b T C 19: 44,512,214 (GRCm39) N560S probably benign Het
Slc22a16 C T 10: 40,449,836 (GRCm39) Q91* probably null Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Slc26a4 A T 12: 31,590,512 (GRCm39) D380E possibly damaging Het
Tshz2 G T 2: 169,727,965 (GRCm39) A385S probably damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vmn1r77 A G 7: 11,775,382 (GRCm39) T53A probably damaging Het
Zeb2 A T 2: 44,887,457 (GRCm39) Y518* probably null Het
Zfp760 T A 17: 21,941,991 (GRCm39) S389T 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
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
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'- GGAGGAAAGCTTTCATGGCC -3'
(R):5'- TTGTGAACCTGCTGCTGAC -3'

Sequencing Primer
(F):5'- AAAGCTTTCATGGCCCGGTTTTC -3'
(R):5'- CTGACCTGCGGGGAAGATG -3'
Posted On 2018-07-23