Incidental Mutation 'R6707:Spp2'
ID 528965
Institutional Source Beutler Lab
Gene Symbol Spp2
Ensembl Gene ENSMUSG00000026295
Gene Name secreted phosphoprotein 2
Synonyms spp24, 0610038O04Rik
MMRRC Submission 044825-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6707 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 88334683-88354160 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 88345016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027518] [ENSMUST00000176708] [ENSMUST00000189225]
AlphaFold Q8K1I3
Predicted Effect probably null
Transcript: ENSMUST00000027518
SMART Domains Protein: ENSMUSP00000027518
Gene: ENSMUSG00000026295

DomainStartEndE-ValueType
Pfam:Spp-24 67 203 2.5e-72 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000176708
SMART Domains Protein: ENSMUSP00000135862
Gene: ENSMUSG00000026295

DomainStartEndE-ValueType
Pfam:Spp-24 1 89 1.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189225
SMART Domains Protein: ENSMUSP00000141021
Gene: ENSMUSG00000026295

DomainStartEndE-ValueType
Pfam:Spp-24 15 53 1.8e-18 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Actg2 C T 6: 83,490,076 (GRCm39) W341* probably null Het
Adam29 C T 8: 56,325,135 (GRCm39) G440R probably damaging Het
Arfgef3 T C 10: 18,496,903 (GRCm39) D1153G probably benign Het
Arhgef28 T C 13: 98,211,624 (GRCm39) T120A possibly damaging Het
Arhgef28 G T 13: 98,073,224 (GRCm39) Q1371K probably damaging Het
BC051665 A T 13: 60,932,222 (GRCm39) D122E probably benign Het
Boc A T 16: 44,320,979 (GRCm39) I227N possibly damaging Het
Clca3b T A 3: 144,550,288 (GRCm39) Q219L probably benign Het
Cplane1 G A 15: 8,252,606 (GRCm39) V1943M probably benign Het
Cyp2c66 T A 19: 39,174,944 (GRCm39) F448Y probably damaging Het
Ddx5 A G 11: 106,673,058 (GRCm39) M489T probably benign Het
Dnm1 T C 2: 32,226,253 (GRCm39) D312G probably null Het
Ecpas T A 4: 58,879,101 (GRCm39) I63L possibly damaging Het
Eqtn T C 4: 94,796,056 (GRCm39) D215G probably benign Het
Evi5l A T 8: 4,256,322 (GRCm39) T706S probably benign Het
Gtf2f1 T C 17: 57,314,770 (GRCm39) E90G probably benign Het
Hpx A T 7: 105,244,682 (GRCm39) S168T probably benign Het
Ipo4 C A 14: 55,866,361 (GRCm39) V773L possibly damaging Het
Ireb2 C T 9: 54,811,245 (GRCm39) T716I probably damaging Het
Klhl21 A G 4: 152,096,784 (GRCm39) D350G possibly damaging Het
Myh13 A T 11: 67,241,086 (GRCm39) N821I probably damaging Het
Nipbl G T 15: 8,354,043 (GRCm39) T1698K probably benign Het
Nod2 A G 8: 89,391,817 (GRCm39) H686R probably benign Het
Ntf3 A G 6: 126,141,691 (GRCm39) probably null Het
Or6c215 G T 10: 129,637,689 (GRCm39) A235D probably damaging Het
Or6c69 T C 10: 129,747,608 (GRCm39) T180A probably benign Het
Parp9 A T 16: 35,768,303 (GRCm39) H161L probably damaging Het
Pkhd1l1 A G 15: 44,392,539 (GRCm39) N1625D probably benign Het
Rdx T C 9: 51,974,954 (GRCm39) F30S probably damaging Het
Smo T A 6: 29,736,173 (GRCm39) V55E probably benign Het
Sox9 C A 11: 112,673,698 (GRCm39) N96K probably damaging Het
Tex46 A G 4: 136,340,161 (GRCm39) N82S probably benign Het
Timm22 C T 11: 76,298,151 (GRCm39) L41F possibly damaging Het
Tmem30a A T 9: 79,681,547 (GRCm39) Y207* probably null Het
Tmem70 T C 1: 16,747,531 (GRCm39) V216A probably damaging Het
Tspan18 T C 2: 93,040,302 (GRCm39) N151S probably benign Het
Vmn2r90 T C 17: 17,948,364 (GRCm39) C537R probably damaging Het
Vps50 A G 6: 3,545,583 (GRCm39) Y339C probably damaging Het
Zp2 C T 7: 119,733,145 (GRCm39) G599R possibly damaging Het
Other mutations in Spp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Spp2 APN 1 88,344,965 (GRCm39) missense probably benign
IGL02530:Spp2 APN 1 88,338,868 (GRCm39) nonsense probably null
PIT4260001:Spp2 UTSW 1 88,338,927 (GRCm39) missense probably benign 0.07
R0094:Spp2 UTSW 1 88,348,402 (GRCm39) critical splice donor site probably null
R1500:Spp2 UTSW 1 88,340,015 (GRCm39) missense possibly damaging 0.90
R4277:Spp2 UTSW 1 88,338,873 (GRCm39) missense probably damaging 1.00
R4906:Spp2 UTSW 1 88,339,991 (GRCm39) missense probably damaging 1.00
R5866:Spp2 UTSW 1 88,340,025 (GRCm39) missense possibly damaging 0.75
R7141:Spp2 UTSW 1 88,335,050 (GRCm39) missense probably damaging 1.00
R9266:Spp2 UTSW 1 88,344,975 (GRCm39) missense probably benign 0.02
R9484:Spp2 UTSW 1 88,334,695 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GTACACATTAGATGCCACTGAGAG -3'
(R):5'- TGAGCCTATATGTGGAACTCTGTAG -3'

Sequencing Primer
(F):5'- TTAGATGCCACTGAGAGTTACCC -3'
(R):5'- AGAAGGGTTGCATCACTACC -3'
Posted On 2018-07-24