Incidental Mutation 'R7029:Spp1'
ID 546175
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 045130-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7029 (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 104587167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 85 (M85V)
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
AA Change: M84V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031243
Gene: ENSMUSG00000029304
AA Change: M84V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 294 2.5e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086833
AA Change: M85V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000084043
Gene: ENSMUSG00000029304
AA Change: M85V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 295 2.21e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112746
AA Change: M85V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000108366
Gene: ENSMUSG00000029304
AA Change: M85V

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: M84V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108367
Gene: ENSMUSG00000029304
AA Change: M84V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
OSTEO 17 294 2.5e-157 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112748
AA Change: M84V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108368
Gene: ENSMUSG00000029304
AA Change: M84V

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
AA Change: M85V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117338
Gene: ENSMUSG00000029304
AA Change: M85V

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: 99.0%
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
1700034J05Rik T C 6: 146,853,841 (GRCm39) Q271R probably benign Het
Abhd4 T A 14: 54,500,164 (GRCm39) W63R probably damaging Het
Adcy5 A G 16: 35,120,018 (GRCm39) M1176V probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccn3 A G 15: 54,611,171 (GRCm39) D102G possibly damaging Het
Def6 A G 17: 28,444,943 (GRCm39) K447R probably benign Het
Dna2 T C 10: 62,799,773 (GRCm39) S726P probably damaging Het
Ell G A 8: 71,031,879 (GRCm39) V15I probably damaging Het
Entrep2 T A 7: 64,409,075 (GRCm39) T440S probably benign Het
Epha3 T A 16: 63,593,698 (GRCm39) D130V probably benign Het
Gys1 A G 7: 45,089,008 (GRCm39) T200A possibly damaging Het
Habp4 A T 13: 64,309,939 (GRCm39) H47L probably benign Het
Iqcn G T 8: 71,161,511 (GRCm39) V235L possibly damaging Het
Kcnj10 C A 1: 172,196,563 (GRCm39) R26S probably benign Het
Klhl1 T A 14: 96,755,632 (GRCm39) D41V probably benign Het
Lyn A G 4: 3,782,996 (GRCm39) T410A probably damaging Het
Mga A G 2: 119,754,031 (GRCm39) T847A probably damaging Het
Mrgpra3 G T 7: 47,239,290 (GRCm39) T212N probably benign Het
Myh4 T C 11: 67,137,251 (GRCm39) F491L probably benign Het
Neurl4 T A 11: 69,801,562 (GRCm39) I1206N probably damaging Het
Pcdhb15 T A 18: 37,608,621 (GRCm39) W618R possibly damaging Het
Pomc A G 12: 4,010,146 (GRCm39) H129R probably damaging Het
Ppm1l C A 3: 69,460,399 (GRCm39) H325Q probably benign Het
Psme4 A G 11: 30,722,474 (GRCm39) probably benign Het
Reep2 A G 18: 34,978,342 (GRCm39) I74V probably null Het
Robo2 T G 16: 73,745,225 (GRCm39) E850A probably damaging Het
Scrn2 T A 11: 96,921,262 (GRCm39) probably benign Het
Sfpq G A 4: 126,923,675 (GRCm39) R673K probably benign Het
Sh2d3c T C 2: 32,644,581 (GRCm39) *703R probably null Het
Srebf1 T C 11: 60,097,810 (GRCm39) E98G probably damaging Het
Srrm4 T A 5: 116,582,851 (GRCm39) probably benign Het
Ticam1 A T 17: 56,578,154 (GRCm39) S314T possibly damaging Het
Tie1 T C 4: 118,341,823 (GRCm39) I209V possibly damaging Het
Vapa G A 17: 65,889,586 (GRCm39) R194* probably null Het
Vcan C T 13: 89,838,360 (GRCm39) D2395N probably damaging Het
Whamm A G 7: 81,241,574 (GRCm39) H295R probably benign Het
Zdhhc14 A G 17: 5,698,186 (GRCm39) Y85C probably damaging Het
Zfp35 T A 18: 24,136,583 (GRCm39) F309Y probably damaging Het
Zfp423 C A 8: 88,414,694 (GRCm39) C1187F probably damaging Het
Zfp874b T C 13: 67,622,392 (GRCm39) Y302C 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
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
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'- ACAAGAGGCCCATTTCATTAGC -3'
(R):5'- AGACTTTGACCTCAGTCCATAAG -3'

Sequencing Primer
(F):5'- GAGGCCCATTTCATTAGCTTAAAACC -3'
(R):5'- AAGCTATCACCTCGGCCGTTG -3'
Posted On 2019-05-13