Incidental Mutation 'R7695:Spp1'
ID 593596
Institutional Source Beutler Lab
Gene Symbol Spp1
Ensembl Gene ENSMUSG00000029304
Gene Name secreted phosphoprotein 1
Synonyms Opn, Opnl, Apl-1, OP, BNSP, ETA-1, 44kDa bone phosphoprotein, osteopontin-like protein, minopontin, Ric, osteopontin, Spp-1, bone sialoprotein 1, 2ar
MMRRC Submission 045758-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7695 (G1)
Quality Score 163.009
Status Not validated
Chromosome 5
Chromosomal Location 104582984-104588916 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 104583009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031243] [ENSMUST00000086833] [ENSMUST00000112746] [ENSMUST00000112747] [ENSMUST00000112748] [ENSMUST00000132457] [ENSMUST00000145084]
AlphaFold P10923
Predicted Effect probably benign
Transcript: ENSMUST00000031243
SMART Domains Protein: ENSMUSP00000031243
Gene: ENSMUSG00000029304

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 294 2.5e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086833
SMART Domains Protein: ENSMUSP00000084043
Gene: ENSMUSG00000029304

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 295 2.21e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112746
SMART Domains Protein: ENSMUSP00000108366
Gene: ENSMUSG00000029304

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Osteopontin 20 164 2.2e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112747
SMART Domains Protein: ENSMUSP00000108367
Gene: ENSMUSG00000029304

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 294 2.5e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112748
SMART Domains Protein: ENSMUSP00000108368
Gene: ENSMUSG00000029304

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 294 2.5e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132457
Predicted Effect probably benign
Transcript: ENSMUST00000145084
SMART Domains Protein: ENSMUSP00000117338
Gene: ENSMUSG00000029304

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Osteopontin 20 152 1.2e-60 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.] The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Two alleles determine natural resistance/susceptibility to the lethal effects of the Gilliam strain of Rickettsia tsutsugamushi. Mice homozygous for a knock-out allele exhibit abnormal osteoclast physiology, macrophage recruitment, wound healing, response to injury, and inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,415,487 (GRCm39) V689A possibly damaging Het
Casp12 A G 9: 5,353,641 (GRCm39) E225G probably damaging Het
Ccdc39 A G 3: 33,868,668 (GRCm39) L806P probably damaging Het
Ccnd3 T A 17: 47,908,421 (GRCm39) I164N probably damaging Het
Cd209b A G 8: 3,976,005 (GRCm39) V52A probably benign Het
Celsr2 G A 3: 108,310,069 (GRCm39) R1554W probably damaging Het
Cnot1 A T 8: 96,497,260 (GRCm39) I239N probably benign Het
Csmd3 A T 15: 47,683,777 (GRCm39) V948D Het
Dnmt1 C A 9: 20,825,281 (GRCm39) G1061V probably null Het
Dpysl4 A G 7: 138,666,039 (GRCm39) M1V probably null Het
Elp5 T C 11: 69,860,327 (GRCm39) T227A probably benign Het
Exosc1 G A 19: 41,916,519 (GRCm39) H86Y possibly damaging Het
Foxn4 G T 5: 114,394,648 (GRCm39) D426E probably damaging Het
Gabbr2 A G 4: 46,875,687 (GRCm39) L145P probably damaging Het
Gkn3 A G 6: 87,361,422 (GRCm39) Y126H probably damaging Het
Gm16506 A G 14: 43,962,463 (GRCm39) F148S Het
Gm3558 A G 14: 19,121,623 (GRCm39) I76T probably benign Het
Gm49359 A G 13: 62,604,558 (GRCm39) F45S possibly damaging Het
Gpc5 A T 14: 115,330,026 (GRCm39) H63L unknown Het
H2bl1 T C 13: 99,120,766 (GRCm39) T87A probably damaging Het
Hbs1l A T 10: 21,175,116 (GRCm39) D28V possibly damaging Het
Ide G A 19: 37,306,435 (GRCm39) H113Y Het
Igkv3-3 A T 6: 70,664,295 (GRCm39) S46C probably damaging Het
Igsf10 A T 3: 59,233,612 (GRCm39) V1707D probably damaging Het
Kcna5 A T 6: 126,511,174 (GRCm39) V318E probably damaging Het
Kdm3b T C 18: 34,927,612 (GRCm39) F158S possibly damaging Het
Lrrc14b T A 13: 74,511,297 (GRCm39) D261V possibly damaging Het
Lrrc71 T A 3: 87,646,769 (GRCm39) I485F probably damaging Het
Map6 C T 7: 98,985,499 (GRCm39) L671F possibly damaging Het
Mast1 A G 8: 85,647,557 (GRCm39) V560A probably damaging Het
Mfap4 A T 11: 61,376,545 (GRCm39) probably null Het
Myh9 A G 15: 77,650,936 (GRCm39) I1637T probably benign Het
Neo1 A T 9: 58,810,212 (GRCm39) F1080I possibly damaging Het
Or1e17 T A 11: 73,831,720 (GRCm39) V216E possibly damaging Het
Or4k48 A G 2: 111,475,970 (GRCm39) V124A probably damaging Het
Or4x6 A G 2: 89,949,207 (GRCm39) V245A probably benign Het
Or51a25 T C 7: 102,372,866 (GRCm39) H277R probably benign Het
Pax2 A G 19: 44,821,638 (GRCm39) Y318C probably damaging Het
Pcnx4 A T 12: 72,588,350 (GRCm39) M53L probably benign Het
Pkd2l2 T A 18: 34,561,298 (GRCm39) D435E possibly damaging Het
Plec G A 15: 76,068,055 (GRCm39) Q1117* probably null Het
Ppp2r2c T C 5: 37,104,526 (GRCm39) L302P probably damaging Het
Prex2 T C 1: 11,232,497 (GRCm39) F855L probably benign Het
Reg3d A T 6: 78,354,119 (GRCm39) W103R probably benign Het
Rnf216 A C 5: 143,071,659 (GRCm39) H440Q possibly damaging Het
Scn2a A G 2: 65,542,251 (GRCm39) T785A probably damaging Het
Sh3pxd2a T A 19: 47,256,270 (GRCm39) Y844F probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Tacc2 T A 7: 130,330,633 (GRCm39) S196T probably benign Het
Thrap3 G A 4: 126,073,891 (GRCm39) S285L probably damaging Het
Ttn T A 2: 76,666,305 (GRCm39) R11584* probably null Het
Ubap2 A G 4: 41,211,740 (GRCm39) S341P probably damaging Het
Upf3a T G 8: 13,848,279 (GRCm39) S358R probably benign Het
Zdbf2 T A 1: 63,346,529 (GRCm39) I1636N possibly damaging Het
Zfp946 C A 17: 22,674,002 (GRCm39) T252N probably benign Het
Other mutations in Spp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4755:Spp1 UTSW 5 104,583,081 (GRCm39) intron probably benign
R4969:Spp1 UTSW 5 104,588,153 (GRCm39) missense possibly damaging 0.68
R5531:Spp1 UTSW 5 104,588,424 (GRCm39) missense probably benign 0.12
R6198:Spp1 UTSW 5 104,587,374 (GRCm39) splice site probably null
R6291:Spp1 UTSW 5 104,587,242 (GRCm39) missense possibly damaging 0.89
R6636:Spp1 UTSW 5 104,588,396 (GRCm39) missense possibly damaging 0.51
R7029:Spp1 UTSW 5 104,587,167 (GRCm39) missense probably benign 0.02
R7228:Spp1 UTSW 5 104,588,311 (GRCm39) missense probably damaging 0.99
R7793:Spp1 UTSW 5 104,588,200 (GRCm39) missense probably damaging 1.00
R8050:Spp1 UTSW 5 104,588,280 (GRCm39) missense probably benign 0.00
R8372:Spp1 UTSW 5 104,588,122 (GRCm39) missense probably benign 0.02
R9074:Spp1 UTSW 5 104,588,167 (GRCm39) missense probably benign 0.07
R9099:Spp1 UTSW 5 104,588,387 (GRCm39) missense probably benign 0.02
X0011:Spp1 UTSW 5 104,588,288 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GGGTAGTTAATGACATCGTTCATCAG -3'
(R):5'- ACCTGCAATGTACCTGACCAG -3'

Sequencing Primer
(F):5'- GACATCGTTCATCAGTAATGCTTTG -3'
(R):5'- GCAATGTACCTGACCAGCTTATTC -3'
Posted On 2019-11-12