Incidental Mutation 'R5175:Smoc2'
ID 399217
Institutional Source Beutler Lab
Gene Symbol Smoc2
Ensembl Gene ENSMUSG00000023886
Gene Name SPARC related modular calcium binding 2
Synonyms 5430426J21Rik, 1700056C05Rik, Smoc2l
MMRRC Submission 042755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5175 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 14499768-14625052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14595719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 282 (D282G)
Ref Sequence ENSEMBL: ENSMUSP00000024660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024660]
AlphaFold Q8CD91
Predicted Effect possibly damaging
Transcript: ENSMUST00000024660
AA Change: D282G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024660
Gene: ENSMUSG00000023886
AA Change: D282G

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr2 A C 11: 20,030,114 (GRCm39) M215R probably benign Het
Ago2 A T 15: 72,996,067 (GRCm39) I354K possibly damaging Het
Angel2 T A 1: 190,673,081 (GRCm39) C72* probably null Het
Ank2 T A 3: 126,797,673 (GRCm39) H679L probably damaging Het
Anks1 A T 17: 28,261,562 (GRCm39) Q694L probably damaging Het
Aox3 C T 1: 58,211,487 (GRCm39) P1015S probably benign Het
Arhgap35 C A 7: 16,296,524 (GRCm39) R847L probably damaging Het
Bag4 C A 8: 26,258,379 (GRCm39) C316F probably damaging Het
Camkv T A 9: 107,824,581 (GRCm39) I258N probably damaging Het
Cpt1c G A 7: 44,620,781 (GRCm39) A28V probably damaging Het
Cyp2j13 A T 4: 95,956,452 (GRCm39) M219K possibly damaging Het
Dclk1 G T 3: 55,154,648 (GRCm39) R26L possibly damaging Het
Diras2 A T 13: 52,662,007 (GRCm39) I100N probably damaging Het
Dnah5 T A 15: 28,448,550 (GRCm39) N4204K probably damaging Het
Dnase1l3 T A 14: 7,987,386 (GRCm38) K55* probably null Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Eif5b A G 1: 38,084,468 (GRCm39) T819A probably damaging Het
Elfn2 A T 15: 78,558,073 (GRCm39) L158H probably damaging Het
Erp44 T C 4: 48,196,823 (GRCm39) T367A probably benign Het
Fasn A T 11: 120,707,195 (GRCm39) D843E probably benign Het
Fbxw25 T C 9: 109,493,631 (GRCm39) Y20C probably damaging Het
Fer1l6 G A 15: 58,422,126 (GRCm39) G108E probably damaging Het
Fndc7 C T 3: 108,776,482 (GRCm39) V520I probably benign Het
Gm17019 A G 5: 15,082,817 (GRCm39) W46R possibly damaging Het
Gorab G T 1: 163,214,214 (GRCm39) Q239K probably damaging Het
Gsdma2 A G 11: 98,543,438 (GRCm39) T76A probably benign Het
Hnrnpll A C 17: 80,341,499 (GRCm39) C513W possibly damaging Het
Ifrd2 T C 9: 107,467,824 (GRCm39) L170P probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnma1 A G 14: 23,386,106 (GRCm39) probably null Het
Kcnn3 T C 3: 89,516,746 (GRCm39) F385S probably damaging Het
Kif18a T G 2: 109,133,323 (GRCm39) probably null Het
Llgl2 A G 11: 115,741,547 (GRCm39) K559R probably damaging Het
Lrrc8a T C 2: 30,145,524 (GRCm39) C113R probably damaging Het
Mgat5 A G 1: 127,387,649 (GRCm39) N535S probably damaging Het
Myh15 T G 16: 48,889,789 (GRCm39) W127G possibly damaging Het
Npsr1 A G 9: 24,046,111 (GRCm39) R77G probably benign Het
Nub1 T A 5: 24,907,446 (GRCm39) S376R probably benign Het
Or14c44 T C 7: 86,062,254 (GRCm39) V228A probably benign Het
Or4d10c G A 19: 12,065,926 (GRCm39) P77S probably damaging Het
Or4k47 A T 2: 111,451,771 (GRCm39) I216N possibly damaging Het
Or5al6 T C 2: 85,976,301 (GRCm39) Y259C probably damaging Het
Or9i2 G A 19: 13,815,680 (GRCm39) P286S probably damaging Het
Pcdh9 A G 14: 94,125,879 (GRCm39) L97P probably damaging Het
Pkn2 A G 3: 142,504,684 (GRCm39) Y831H probably damaging Het
Plcz1 T G 6: 139,985,389 (GRCm39) I51L possibly damaging Het
Plekhg1 T C 10: 3,915,516 (GRCm39) probably benign Het
Prdm9 A T 17: 15,777,713 (GRCm39) S124T probably benign Het
Prkag1 A C 15: 98,713,596 (GRCm39) V33G possibly damaging Het
Rab25 T A 3: 88,450,728 (GRCm39) Y57F possibly damaging Het
Rb1cc1 A G 1: 6,318,545 (GRCm39) I638V probably benign Het
Rest C A 5: 77,416,219 (GRCm39) D144E probably damaging Het
Rpa2 A G 4: 132,505,151 (GRCm39) D260G probably damaging Het
Sf3b3 A G 8: 111,560,467 (GRCm39) V425A probably benign Het
Sidt2 A T 9: 45,863,086 (GRCm39) M15K probably damaging Het
Slc22a17 A G 14: 55,144,748 (GRCm39) L555P probably damaging Het
Sorcs3 G A 19: 48,748,284 (GRCm39) probably null Het
Spmap2l C T 5: 77,164,317 (GRCm39) P107S probably benign Het
Srcin1 A G 11: 97,464,703 (GRCm39) W15R probably damaging Het
Stra6l A G 4: 45,870,860 (GRCm39) T259A probably benign Het
Ube3a T C 7: 58,938,465 (GRCm39) F741S probably damaging Het
Vasp C A 7: 18,998,594 (GRCm39) M54I probably benign Het
Vmn1r174 A T 7: 23,454,153 (GRCm39) H273L probably benign Het
Vmn2r50 T A 7: 9,771,644 (GRCm39) I686F probably damaging Het
Vmn2r76 T C 7: 85,877,915 (GRCm39) E494G probably benign Het
Zfp788 A G 7: 41,298,753 (GRCm39) E443G probably 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
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
R7996:Smoc2 UTSW 17 14,595,730 (GRCm39) nonsense probably null
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
(F):5'- GTAGAGCTTATGAAACATTCTGGGG -3'
(R):5'- ATGTCTGCTGGAATTCAGGC -3'

Sequencing Primer
(F):5'- AAACATTCTGGGGCCGCG -3'
(R):5'- AATTCAGGCTCTTAGAGGGGCC -3'
Posted On 2016-07-06