Incidental Mutation 'IGL01625:Smoc2'
ID 92770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smoc2
Ensembl Gene ENSMUSG00000023886
Gene Name SPARC related modular calcium binding 2
Synonyms 5430426J21Rik, 1700056C05Rik, Smoc2l
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01625
Quality Score
Chromosome 17
Chromosomal Location 14499768-14625052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14545876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 55 (S55L)
Ref Sequence ENSEMBL: ENSMUSP00000024660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024660]
AlphaFold Q8CD91
Predicted Effect probably damaging
Transcript: ENSMUST00000024660
AA Change: S55L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024660
Gene: ENSMUSG00000023886
AA Change: S55L

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,979,957 (GRCm39) H37Q possibly damaging Het
Akr1c19 T A 13: 4,283,816 (GRCm39) I16N probably damaging Het
Arpc1b T C 5: 145,058,555 (GRCm39) probably null Het
Bzw1 A G 1: 58,440,599 (GRCm39) T191A probably benign Het
Cacna1h G A 17: 25,604,686 (GRCm39) T1209I possibly damaging Het
Cacna1h T C 17: 25,602,459 (GRCm39) D1523G probably damaging Het
Cdc20b T C 13: 113,196,319 (GRCm39) L148P possibly damaging Het
Cubn A G 2: 13,311,085 (GRCm39) F3147L possibly damaging Het
Dagla A G 19: 10,228,566 (GRCm39) probably benign Het
Dnah9 T C 11: 65,935,471 (GRCm39) N1983D probably damaging Het
Fbxw10 G A 11: 62,750,853 (GRCm39) D479N probably damaging Het
Fer A T 17: 64,344,621 (GRCm39) Q630L probably damaging Het
Gbp5 A G 3: 142,208,789 (GRCm39) N111D probably damaging Het
Gm8127 T G 14: 43,148,520 (GRCm39) probably benign Het
Heatr1 T A 13: 12,428,409 (GRCm39) N814K probably damaging Het
Iba57 G A 11: 59,049,775 (GRCm39) R191W probably damaging Het
Itgae C A 11: 73,010,263 (GRCm39) F584L probably benign Het
Kdm5b A G 1: 134,545,706 (GRCm39) K956E possibly damaging Het
Muc4 C T 16: 32,575,918 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,166,337 (GRCm39) K218E possibly damaging Het
Pcdh10 T C 3: 45,333,832 (GRCm39) S49P probably damaging Het
Prss3b A C 6: 41,009,882 (GRCm39) S151A probably benign Het
Rai14 T C 15: 10,572,460 (GRCm39) D889G probably benign Het
Rbpjl A G 2: 164,249,705 (GRCm39) K102R possibly damaging Het
Retreg2 A G 1: 75,121,359 (GRCm39) probably benign Het
Rfc4 A T 16: 22,934,573 (GRCm39) L149Q probably damaging Het
Rft1 T A 14: 30,398,853 (GRCm39) D274E possibly damaging Het
Rlf A T 4: 121,045,457 (GRCm39) S143R possibly damaging Het
Rptn T A 3: 93,305,201 (GRCm39) S845T probably benign Het
Slamf8 C A 1: 172,410,049 (GRCm39) D267Y probably damaging Het
Sptan1 C T 2: 29,916,126 (GRCm39) A2038V probably damaging Het
Stx17 C A 4: 48,181,526 (GRCm39) P210T probably damaging Het
Tbc1d5 A G 17: 51,224,601 (GRCm39) Y317H probably benign Het
Tenm4 C A 7: 96,534,565 (GRCm39) T1737N probably damaging Het
Tesk2 T C 4: 116,628,998 (GRCm39) F116L possibly damaging Het
Tln2 T C 9: 67,277,905 (GRCm39) S370G probably damaging Het
Tm6sf2 G T 8: 70,528,733 (GRCm39) G162C probably null Het
Togaram2 A C 17: 72,021,693 (GRCm39) E718D probably benign Het
Ttn A C 2: 76,578,327 (GRCm39) F15862V probably damaging Het
Uba6 T A 5: 86,268,388 (GRCm39) R916* probably null Het
Umodl1 A G 17: 31,215,229 (GRCm39) M1018V probably benign Het
Wdr26 G A 1: 181,019,381 (GRCm39) T332I possibly damaging Het
Xdh A T 17: 74,223,781 (GRCm39) probably null Het
Other mutations in Smoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09