Incidental Mutation 'R4860:Sparc'
ID 372435
Institutional Source Beutler Lab
Gene Symbol Sparc
Ensembl Gene ENSMUSG00000018593
Gene Name secreted acidic cysteine rich glycoprotein
Synonyms BM-40, osteonectin
MMRRC Submission 042471-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4860 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 55394500-55423183 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55399211 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 218 (T218I)
Ref Sequence ENSEMBL: ENSMUSP00000149918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018737] [ENSMUST00000108858] [ENSMUST00000141530] [ENSMUST00000213866] [ENSMUST00000214685] [ENSMUST00000216313]
AlphaFold P07214
Predicted Effect possibly damaging
Transcript: ENSMUST00000018737
AA Change: T188I

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018737
Gene: ENSMUSG00000018593
AA Change: T188I

signal peptide 1 17 N/A INTRINSIC
low complexity region 22 42 N/A INTRINSIC
FOLN 70 93 5.24e-8 SMART
KAZAL 93 148 1.16e-9 SMART
Pfam:SPARC_Ca_bdg 151 288 5.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108858
AA Change: T187I

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104486
Gene: ENSMUSG00000018593
AA Change: T187I

signal peptide 1 17 N/A INTRINSIC
low complexity region 21 41 N/A INTRINSIC
FOLN 69 92 5.24e-8 SMART
KAZAL 92 147 1.16e-9 SMART
Pfam:SPARC_Ca_bdg 150 287 1.1e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130642
Predicted Effect probably benign
Transcript: ENSMUST00000141530
SMART Domains Protein: ENSMUSP00000119475
Gene: ENSMUSG00000018593

signal peptide 1 17 N/A INTRINSIC
FOLN 68 91 5.24e-8 SMART
KAZAL 91 146 1.16e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000213866
AA Change: T218I

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214685
AA Change: T188I

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216313
AA Change: T218I

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.4623 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cataracts, reduced skin collagen content, accelerated wound closure, osteopenia associated with reduced bone remodeling, and increased growth of implanted tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,423 (GRCm38) S466P possibly damaging Het
1700061G19Rik A G 17: 56,888,655 (GRCm38) N684S probably benign Het
4930435E12Rik A G 16: 38,828,145 (GRCm38) S201P probably damaging Het
Ablim1 T C 19: 57,079,866 (GRCm38) T267A probably damaging Het
Acap2 A T 16: 31,103,499 (GRCm38) L724Q possibly damaging Het
Adcy4 T C 14: 55,781,927 (GRCm38) T89A possibly damaging Het
Agrp T C 8: 105,567,368 (GRCm38) E41G probably benign Het
Akr1d1 G A 6: 37,564,491 (GRCm38) V308M probably damaging Het
Ap1m2 C T 9: 21,309,674 (GRCm38) R54Q probably benign Het
Arhgap45 T A 10: 80,027,066 (GRCm38) V692E probably damaging Het
Arid5b G T 10: 68,243,095 (GRCm38) N137K probably damaging Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
BC048679 T C 7: 81,495,720 (GRCm38) N27D probably benign Het
Ccdc78 A G 17: 25,788,700 (GRCm38) N237S probably benign Het
Cd46 G A 1: 195,062,396 (GRCm38) L345F possibly damaging Het
Cngb3 A T 4: 19,425,569 (GRCm38) N459I possibly damaging Het
Ctnnd2 A G 15: 30,881,167 (GRCm38) E731G probably damaging Het
Ctsh A G 9: 90,054,548 (GRCm38) E26G probably benign Het
Cul1 G T 6: 47,517,146 (GRCm38) K464N probably benign Het
Cul1 T A 6: 47,517,191 (GRCm38) S479R probably damaging Het
Dcaf5 A T 12: 80,340,232 (GRCm38) D373E probably benign Het
Ddx58 G T 4: 40,210,000 (GRCm38) S644R probably damaging Het
Dhcr7 A G 7: 143,840,500 (GRCm38) Q126R probably benign Het
Dok2 T C 14: 70,777,516 (GRCm38) F228L probably damaging Het
Dpep3 T G 8: 105,976,189 (GRCm38) I314L probably benign Het
Eps8 A G 6: 137,514,295 (GRCm38) F362L probably damaging Het
Espn G T 4: 152,138,846 (GRCm38) R250S probably damaging Het
Faf1 A C 4: 109,742,896 (GRCm38) N163H probably damaging Het
Fam198b C A 3: 79,936,674 (GRCm38) S36* probably null Het
Fam71e2 C T 7: 4,757,469 (GRCm38) probably null Het
Fcho1 C T 8: 71,710,481 (GRCm38) V635I probably benign Het
Gm7579 G A 7: 142,211,908 (GRCm38) C17Y unknown Het
Gm996 T C 2: 25,578,753 (GRCm38) Y382C probably damaging Het
Gpx8 G T 13: 113,045,508 (GRCm38) Y130* probably null Het
Gvin1 A T 7: 106,163,436 (GRCm38) Y609N possibly damaging Het
Hectd4 T A 5: 121,305,818 (GRCm38) M30K probably benign Het
Iqub T C 6: 24,450,842 (GRCm38) D586G probably damaging Het
Klhl25 T C 7: 75,867,050 (GRCm38) I568T probably benign Het
Larp6 A G 9: 60,737,810 (GRCm38) E411G probably damaging Het
Lepr A C 4: 101,789,337 (GRCm38) I822L probably benign Het
Lrig3 C A 10: 126,011,052 (GRCm38) D896E probably benign Het
Lrp1 C T 10: 127,553,824 (GRCm38) G3114D probably damaging Het
Macf1 A T 4: 123,486,750 (GRCm38) Y1263N probably damaging Het
Mapk10 T C 5: 102,990,619 (GRCm38) D180G probably damaging Het
Matr3 T A 18: 35,581,640 (GRCm38) V113E probably damaging Het
Mbd4 A T 6: 115,848,926 (GRCm38) F368Y possibly damaging Het
Mcpt8 G A 14: 56,082,280 (GRCm38) R238W probably benign Het
Mcrip2 G T 17: 25,864,647 (GRCm38) T86N possibly damaging Het
Mink1 A G 11: 70,611,592 (GRCm38) N1043S probably damaging Het
Muc4 G A 16: 32,754,616 (GRCm38) G1497R probably benign Het
Muc4 T A 16: 32,754,625 (GRCm38) S1500T probably benign Het
Nbeal2 G A 9: 110,635,194 (GRCm38) T1128I probably benign Het
Nrg2 T A 18: 36,196,547 (GRCm38) Y205F probably damaging Het
Nubp2 A G 17: 24,884,456 (GRCm38) M149T probably benign Het
Olfr1062 T C 2: 86,422,957 (GRCm38) T240A probably damaging Het
Olfr462 T A 11: 87,889,225 (GRCm38) M224L probably damaging Het
Olfr974 G T 9: 39,942,504 (GRCm38) M81I probably benign Het
Pax3 A G 1: 78,192,456 (GRCm38) I191T possibly damaging Het
Pdcd5 T C 7: 35,643,710 (GRCm38) N137D possibly damaging Het
Pik3c2a G A 7: 116,340,156 (GRCm38) A1649V probably damaging Het
Pkhd1l1 T C 15: 44,537,378 (GRCm38) S2183P possibly damaging Het
Plekho1 T A 3: 95,988,993 (GRCm38) Q388L possibly damaging Het
Ppfibp1 A G 6: 146,990,514 (GRCm38) T91A probably benign Het
Ptger4 G T 15: 5,242,606 (GRCm38) N177K probably benign Het
Reln A G 5: 21,901,751 (GRCm38) F3207S probably benign Het
Ripk4 C T 16: 97,751,536 (GRCm38) R194H probably damaging Het
Rnf112 A T 11: 61,452,744 (GRCm38) C112S possibly damaging Het
Rprd1b T G 2: 158,074,935 (GRCm38) Y278* probably null Het
Sel1l A G 12: 91,831,602 (GRCm38) L140P probably damaging Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slc38a3 A G 9: 107,655,064 (GRCm38) V423A probably damaging Het
Slitrk6 T C 14: 110,751,883 (GRCm38) T131A probably damaging Het
Slmap A T 14: 26,460,209 (GRCm38) V323E probably benign Het
Smim6 T C 11: 115,913,504 (GRCm38) V39A probably benign Het
Sorbs1 T C 19: 40,337,005 (GRCm38) T382A probably benign Het
Steap1 A T 5: 5,736,589 (GRCm38) F283I probably damaging Het
Stil A G 4: 115,038,474 (GRCm38) T586A probably benign Het
Tbce T A 13: 14,019,795 (GRCm38) D93V probably damaging Het
Tcf12 C T 9: 71,858,840 (GRCm38) G504S probably null Het
Tle4 A T 19: 14,464,345 (GRCm38) I435K probably benign Het
Tmem245 A G 4: 56,899,164 (GRCm38) F254S probably damaging Het
Tmem251 A T 12: 102,744,055 (GRCm38) probably benign Het
Tubgcp3 T C 8: 12,649,722 (GRCm38) K377R probably benign Het
Ush2a A T 1: 188,553,275 (GRCm38) T2003S probably benign Het
Usp53 A G 3: 122,961,363 (GRCm38) S32P possibly damaging Het
Vmn1r78 T A 7: 12,152,756 (GRCm38) L98Q probably damaging Het
Vmn2r116 A C 17: 23,401,803 (GRCm38) Q837P probably benign Het
Vmn2r3 T C 3: 64,275,601 (GRCm38) I226V probably benign Het
Vmn2r84 T A 10: 130,385,843 (GRCm38) D836V probably damaging Het
Vps13d A G 4: 145,087,161 (GRCm38) F165L probably benign Het
Vstm4 A G 14: 32,863,785 (GRCm38) E103G possibly damaging Het
Zfp870 A T 17: 32,883,340 (GRCm38) C339* probably null Het
Other mutations in Sparc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Sparc APN 11 55,405,243 (GRCm38) missense probably damaging 0.99
IGL01790:Sparc APN 11 55,407,215 (GRCm38) splice site probably null
R1711:Sparc UTSW 11 55,395,776 (GRCm38) splice site probably null
R1840:Sparc UTSW 11 55,395,866 (GRCm38) missense probably damaging 1.00
R1859:Sparc UTSW 11 55,406,508 (GRCm38) critical splice donor site probably null
R2172:Sparc UTSW 11 55,395,801 (GRCm38) nonsense probably null
R4588:Sparc UTSW 11 55,405,236 (GRCm38) missense probably benign 0.00
R4860:Sparc UTSW 11 55,399,211 (GRCm38) missense possibly damaging 0.92
R7748:Sparc UTSW 11 55,398,600 (GRCm38) missense probably benign 0.01
R7803:Sparc UTSW 11 55,409,971 (GRCm38) missense probably damaging 0.99
R8683:Sparc UTSW 11 55,401,957 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-03-01