Incidental Mutation 'R7996:Smoc2'
ID 616112
Institutional Source Beutler Lab
Gene Symbol Smoc2
Ensembl Gene ENSMUSG00000023886
Gene Name SPARC related modular calcium binding 2
Synonyms 5430426J21Rik, 1700056C05Rik, Smoc2l
MMRRC Submission 046036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7996 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 14499768-14625052 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 14595730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 286 (R286*)
Ref Sequence ENSEMBL: ENSMUSP00000024660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024660]
AlphaFold Q8CD91
Predicted Effect probably null
Transcript: ENSMUST00000024660
AA Change: R286*
SMART Domains Protein: ENSMUSP00000024660
Gene: ENSMUSG00000023886
AA Change: R286*

signal peptide 1 21 N/A INTRINSIC
KAZAL 39 84 1.49e-12 SMART
TY 110 157 3.07e-14 SMART
low complexity region 166 177 N/A INTRINSIC
TY 237 285 3.34e-15 SMART
Pfam:SPARC_Ca_bdg 302 412 8.6e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for one KO allele exhibit protection from induced kidney fibrosis and reduced interstitial myofibroblast accumulation. Another KO allele leads to shortening and widening of the skull. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,977,490 (GRCm39) N394K probably damaging Het
Amotl1 T C 9: 14,505,001 (GRCm39) D69G possibly damaging Het
Arid5a G T 1: 36,356,526 (GRCm39) C121F unknown Het
Ccne2 C A 4: 11,201,347 (GRCm39) Q292K probably benign Het
Cfap70 A G 14: 20,459,194 (GRCm39) I723T probably benign Het
Chrnd A G 1: 87,118,828 (GRCm39) T62A probably damaging Het
Cobll1 T A 2: 64,981,329 (GRCm39) H87L possibly damaging Het
Derl1 T G 15: 57,741,970 (GRCm39) M122L probably benign Het
Dnah5 T A 15: 28,409,323 (GRCm39) N3580K probably damaging Het
Efcab12 T C 6: 115,800,378 (GRCm39) Q215R probably benign Het
Eif3m T C 2: 104,831,694 (GRCm39) N289D probably benign Het
Elapor2 A C 5: 9,512,881 (GRCm39) K958N probably damaging Het
Emsy T A 7: 98,242,888 (GRCm39) I1084L probably benign Het
Garin3 T C 11: 46,295,889 (GRCm39) V87A Het
Garre1 G T 7: 33,963,024 (GRCm39) T216K possibly damaging Het
Gm3336 A T 8: 71,173,146 (GRCm39) T53S unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Hr G A 14: 70,801,043 (GRCm39) W676* probably null Het
Katnb1 A T 8: 95,824,643 (GRCm39) I546F possibly damaging Het
Memo1 A T 17: 74,565,491 (GRCm39) L24Q probably damaging Het
Mmel1 C G 4: 154,976,912 (GRCm39) Q529E probably benign Het
Naip5 A G 13: 100,358,164 (GRCm39) F1024S probably damaging Het
Or4c58 T C 2: 89,674,759 (GRCm39) D186G probably benign Het
Or7c70 A T 10: 78,683,155 (GRCm39) V198E probably damaging Het
Paics A G 5: 77,107,276 (GRCm39) K110R probably benign Het
Pate13 G A 9: 35,820,650 (GRCm39) R34H probably damaging Het
Pcdhgc4 C T 18: 37,950,459 (GRCm39) S625F probably damaging Het
Pnpla8 T A 12: 44,329,766 (GRCm39) L106* probably null Het
Rabggtb T C 3: 153,617,605 (GRCm39) H31R probably damaging Het
Rhot1 G A 11: 80,148,363 (GRCm39) C601Y probably damaging Het
Rps27 A G 3: 90,120,309 (GRCm39) V53A probably benign Het
Sdr39u1 C A 14: 56,135,344 (GRCm39) G200* probably null Het
Sesn1 T A 10: 41,770,929 (GRCm39) Y153* probably null Het
Slc25a40 A G 5: 8,493,653 (GRCm39) T168A probably damaging Het
Smtnl2 T A 11: 72,291,200 (GRCm39) K349N probably damaging Het
Snx16 G T 3: 10,500,509 (GRCm39) D153E probably benign Het
Spata31e5 C T 1: 28,817,487 (GRCm39) E182K probably damaging Het
Ssu72 A C 4: 155,816,450 (GRCm39) N144T probably benign Het
Stk40 C A 4: 126,030,667 (GRCm39) L296I probably damaging Het
Sult3a2 T C 10: 33,644,254 (GRCm39) M225V probably damaging Het
Syne2 T C 12: 76,051,441 (GRCm39) L4057P probably damaging Het
Tbx2 A G 11: 85,725,616 (GRCm39) H189R probably damaging Het
Tead1 T C 7: 112,441,311 (GRCm39) probably null Het
Tgs1 T C 4: 3,605,842 (GRCm39) S786P probably damaging Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Trim14 A T 4: 46,533,086 (GRCm39) C76S probably benign Het
Tubgcp6 T A 15: 88,993,231 (GRCm39) Q506L possibly damaging Het
Vmn2r50 A T 7: 9,781,795 (GRCm39) F317I probably damaging Het
Vwa5a T A 9: 38,639,124 (GRCm39) Y335* probably null Het
Zgrf1 C T 3: 127,389,573 (GRCm39) T1257I possibly damaging Het
Zpr1 A G 9: 46,184,863 (GRCm39) N87D possibly damaging Het
Other mutations in Smoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Smoc2 APN 17 14,545,876 (GRCm39) missense probably damaging 1.00
IGL02085:Smoc2 APN 17 14,567,495 (GRCm39) missense possibly damaging 0.79
IGL02309:Smoc2 APN 17 14,595,789 (GRCm39) splice site probably benign
IGL02975:Smoc2 APN 17 14,556,872 (GRCm39) missense probably damaging 0.98
enamel UTSW 17 14,545,896 (GRCm39) missense probably damaging 1.00
FR4976:Smoc2 UTSW 17 14,621,824 (GRCm39) small deletion probably benign
R2291:Smoc2 UTSW 17 14,589,233 (GRCm39) missense possibly damaging 0.53
R2343:Smoc2 UTSW 17 14,564,604 (GRCm39) missense probably benign 0.22
R2888:Smoc2 UTSW 17 14,617,887 (GRCm39) critical splice donor site probably null
R3878:Smoc2 UTSW 17 14,545,879 (GRCm39) missense probably damaging 1.00
R4872:Smoc2 UTSW 17 14,589,295 (GRCm39) missense probably benign 0.12
R5153:Smoc2 UTSW 17 14,556,841 (GRCm39) missense probably damaging 1.00
R5175:Smoc2 UTSW 17 14,595,719 (GRCm39) missense possibly damaging 0.89
R5239:Smoc2 UTSW 17 14,589,227 (GRCm39) missense probably benign 0.19
R5292:Smoc2 UTSW 17 14,556,835 (GRCm39) missense probably damaging 0.98
R5794:Smoc2 UTSW 17 14,589,310 (GRCm39) missense possibly damaging 0.94
R7810:Smoc2 UTSW 17 14,545,884 (GRCm39) missense probably damaging 1.00
R8811:Smoc2 UTSW 17 14,545,896 (GRCm39) missense probably damaging 1.00
R9214:Smoc2 UTSW 17 14,556,839 (GRCm39) missense probably damaging 1.00
R9287:Smoc2 UTSW 17 14,619,686 (GRCm39) missense probably damaging 1.00
X0026:Smoc2 UTSW 17 14,556,895 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- gtgtgCACACCTTGTTAG -3'
Posted On 2020-01-23