Incidental Mutation 'R8372:Spp1'
ID 646485
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 067875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8372 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 104582984-104588916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104588122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 175 (T175A)
Ref Sequence ENSEMBL: ENSMUSP00000031243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031243] [ENSMUST00000086833] [ENSMUST00000112746] [ENSMUST00000112747] [ENSMUST00000112748] [ENSMUST00000132457] [ENSMUST00000145084]
AlphaFold P10923
Predicted Effect probably benign
Transcript: ENSMUST00000031243
AA Change: T175A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031243
Gene: ENSMUSG00000029304
AA Change: T175A

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 294 2.5e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086833
AA Change: T176A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000084043
Gene: ENSMUSG00000029304
AA Change: T176A

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
AA Change: T175A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108367
Gene: ENSMUSG00000029304
AA Change: T175A

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 294 2.5e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112748
AA Change: T175A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000108368
Gene: ENSMUSG00000029304
AA Change: T175A

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,682,152 (GRCm39) D155G probably damaging Het
Adgrg7 T A 16: 56,616,114 (GRCm39) probably benign Het
Agap2 T C 10: 126,925,185 (GRCm39) S833P unknown Het
B4galnt2 T C 11: 95,760,106 (GRCm39) E307G possibly damaging Het
Bcl9l A G 9: 44,418,528 (GRCm39) M826V probably benign Het
C2cd3 C T 7: 100,104,487 (GRCm39) Q2167* probably null Het
Ccdc7a T C 8: 129,547,585 (GRCm39) E1289G possibly damaging Het
Cep290 T C 10: 100,385,203 (GRCm39) V1893A probably benign Het
Clec4g T C 8: 3,757,990 (GRCm39) probably benign Het
Cspg4 A G 9: 56,794,479 (GRCm39) E738G probably damaging Het
Cyth4 A G 15: 78,481,335 (GRCm39) probably benign Het
Dab2 A C 15: 6,446,406 (GRCm39) S8R possibly damaging Het
Dclk3 A G 9: 111,314,081 (GRCm39) D719G probably damaging Het
Dync2h1 A G 9: 7,111,514 (GRCm39) V2540A possibly damaging Het
Elavl1 T C 8: 4,339,664 (GRCm39) N306S probably damaging Het
Ercc6l2 T C 13: 64,001,563 (GRCm39) V459A probably damaging Het
Fcgr2b A G 1: 170,793,330 (GRCm39) V233A probably benign Het
Gfm2 T C 13: 97,301,552 (GRCm39) S452P possibly damaging Het
Gpr15 A G 16: 58,538,850 (GRCm39) F80L probably benign Het
Ighv13-2 A T 12: 114,321,681 (GRCm39) C19* probably null Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Klhl33 C T 14: 51,129,689 (GRCm39) R312Q probably damaging Het
Klhl9 A G 4: 88,639,596 (GRCm39) L215P probably damaging Het
Krtap20-1 G C 16: 88,812,385 (GRCm39) G57R unknown Het
Or9k2b A G 10: 130,016,656 (GRCm39) F31S probably damaging Het
Parp8 T A 13: 116,991,786 (GRCm39) Q872H probably damaging Het
Plxnb2 A G 15: 89,042,696 (GRCm39) S1531P probably damaging Het
Psg16 A G 7: 16,829,240 (GRCm39) T275A probably benign Het
Ptprk A G 10: 28,230,688 (GRCm39) T260A possibly damaging Het
Rapgef1 G A 2: 29,600,243 (GRCm39) G655S probably damaging Het
Rbm15b T C 9: 106,762,762 (GRCm39) M19V Het
Rbm42 A G 7: 30,340,631 (GRCm39) S447P unknown Het
Rsf1 T C 7: 97,311,624 (GRCm39) S785P Het
Scnn1a A G 6: 125,320,681 (GRCm39) N578S probably damaging Het
Slc39a7 T C 17: 34,249,639 (GRCm39) N169D probably damaging Het
Tigd5 A G 15: 75,782,337 (GRCm39) H233R probably benign Het
Tmprss3 C T 17: 31,403,671 (GRCm39) V377I probably benign Het
Vmn1r75 A T 7: 11,614,657 (GRCm39) I130F probably benign Het
Xpo4 A G 14: 57,835,341 (GRCm39) probably null Het
Xrn1 A G 9: 95,906,166 (GRCm39) T1186A probably benign Het
Zcchc4 T C 5: 52,953,506 (GRCm39) Y172H probably damaging 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
R7695:Spp1 UTSW 5 104,583,009 (GRCm39) start gained probably benign
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
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'- ATGATTGATATGAAGCTGACTGGTG -3'
(R):5'- GGCTTTGGAACTTGCTTGAC -3'

Sequencing Primer
(F):5'- GCTGACTGGTGAAATATAAAGTACAC -3'
(R):5'- GGAACTTGCTTGACTATCGATCAC -3'
Posted On 2020-09-02