Incidental Mutation 'R5866:Spp2'
ID 454154
Institutional Source Beutler Lab
Gene Symbol Spp2
Ensembl Gene ENSMUSG00000026295
Gene Name secreted phosphoprotein 2
Synonyms spp24, 0610038O04Rik
MMRRC Submission 044075-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5866 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 88334683-88354160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88340025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 122 (D122V)
Ref Sequence ENSEMBL: ENSMUSP00000027518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027518] [ENSMUST00000176708] [ENSMUST00000189225]
AlphaFold Q8K1I3
Predicted Effect possibly damaging
Transcript: ENSMUST00000027518
AA Change: D122V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027518
Gene: ENSMUSG00000026295
AA Change: D122V

DomainStartEndE-ValueType
Pfam:Spp-24 67 203 2.5e-72 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176708
AA Change: D8V

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135862
Gene: ENSMUSG00000026295
AA Change: D8V

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.7%
Validation Efficiency 91% (51/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,096,814 (GRCm39) probably benign Het
A530084C06Rik G A 13: 31,743,178 (GRCm39) A25V unknown Het
A730018C14Rik T C 12: 112,381,472 (GRCm39) noncoding transcript Het
Aasdh G T 5: 77,024,058 (GRCm39) A198E probably damaging Het
Abcb8 C T 5: 24,607,101 (GRCm39) A328V probably damaging Het
Ace3 C A 11: 105,888,330 (GRCm39) H347N probably damaging Het
Amy1 A T 3: 113,355,569 (GRCm39) M302K possibly damaging Het
Apol11b C T 15: 77,524,747 (GRCm39) V13M probably null Het
Arfgef2 T A 2: 166,678,177 (GRCm39) V131E possibly damaging Het
Arnt T A 3: 95,398,037 (GRCm39) probably benign Het
Atl1 T C 12: 69,972,785 (GRCm39) V35A probably damaging Het
BC061237 A T 14: 44,738,730 (GRCm39) D43V possibly damaging Het
Cracd A G 5: 77,005,384 (GRCm39) T582A unknown Het
Cyp4f17 T C 17: 32,725,887 (GRCm39) S7P probably benign Het
Ddx60 A G 8: 62,393,774 (GRCm39) Y70C probably damaging Het
Defb34 T C 8: 19,176,468 (GRCm39) L53P probably damaging Het
Dennd5a T C 7: 109,518,567 (GRCm39) T525A probably benign Het
Ephb3 T C 16: 21,030,129 (GRCm39) probably benign Het
Fam83d T A 2: 158,621,750 (GRCm39) probably null Het
Gramd2b A G 18: 56,607,108 (GRCm39) D74G possibly damaging Het
Hax1 A G 3: 89,903,035 (GRCm39) probably benign Het
Kcnh8 T C 17: 53,263,804 (GRCm39) I767T probably benign Het
Ldah G A 12: 8,270,614 (GRCm39) V5I possibly damaging Het
Nbeal2 A G 9: 110,460,560 (GRCm39) V1758A probably damaging Het
Nos1 A G 5: 118,033,967 (GRCm39) D363G probably damaging Het
Or14j6 C T 17: 38,214,700 (GRCm39) R88* probably null Het
Pdlim7 T A 13: 55,646,501 (GRCm39) D445V probably damaging Het
Phip T A 9: 82,772,203 (GRCm39) M1115L probably benign Het
Pigb C T 9: 72,936,966 (GRCm39) A215T probably damaging Het
Pkd1 A T 17: 24,799,935 (GRCm39) S2952C probably damaging Het
Plxnb2 T C 15: 89,051,775 (GRCm39) D148G probably damaging Het
Ppp1r36 T C 12: 76,473,579 (GRCm39) F70S possibly damaging Het
Rad52 G A 6: 119,889,907 (GRCm39) probably benign Het
Rasa2 T A 9: 96,427,823 (GRCm39) T681S probably benign Het
Rel A T 11: 23,692,724 (GRCm39) Y436* probably null Het
Sec16a G A 2: 26,309,650 (GRCm39) P2119S probably benign Het
Sema6d C A 2: 124,506,262 (GRCm39) T733K probably benign Het
Sf3b3 C T 8: 111,541,266 (GRCm39) A950T probably benign Het
Slc24a5 T A 2: 124,927,591 (GRCm39) F297I probably damaging Het
Stap1 A G 5: 86,225,906 (GRCm39) K60R probably benign Het
Stat1 A G 1: 52,178,423 (GRCm39) K286E probably damaging Het
Stn1 T C 19: 47,505,568 (GRCm39) T129A probably benign Het
Tagap C T 17: 8,152,285 (GRCm39) T490I probably damaging Het
Tbc1d2 T C 4: 46,637,715 (GRCm39) E177G possibly damaging Het
Tln2 A T 9: 67,174,150 (GRCm39) L841Q probably damaging Het
Tmem59 T A 4: 107,047,754 (GRCm39) M71K probably damaging Het
Ugt2a3 G A 5: 87,484,406 (GRCm39) T206I probably damaging Het
Utp20 G A 10: 88,608,421 (GRCm39) H1539Y possibly damaging Het
Vps13a T C 19: 16,657,387 (GRCm39) N1794S probably benign Het
Vsig10 A T 5: 117,490,814 (GRCm39) probably null Het
Zfp97 T A 17: 17,365,087 (GRCm39) F195L 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
R6707:Spp2 UTSW 1 88,345,016 (GRCm39) critical splice donor site probably null
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'- GCTTTGGGAGACTGAACCAC -3'
(R):5'- ATGGAAAATGAGCCTGTAGTGATTC -3'

Sequencing Primer
(F):5'- AGACTGAACCACCGCTGTG -3'
(R):5'- TTCAAGGGGGAATCCAGCTGTG -3'
Posted On 2017-02-10