Incidental Mutation 'IGL02530:Spp2'
ID 297270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spp2
Ensembl Gene ENSMUSG00000026295
Gene Name secreted phosphoprotein 2
Synonyms spp24, 0610038O04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02530
Quality Score
Status
Chromosome 1
Chromosomal Location 88334683-88354160 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 88338868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 25 (L25*)
Ref Sequence ENSEMBL: ENSMUSP00000141021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027518] [ENSMUST00000176708] [ENSMUST00000189225]
AlphaFold Q8K1I3
Predicted Effect probably null
Transcript: ENSMUST00000027518
AA Change: L77*
SMART Domains Protein: ENSMUSP00000027518
Gene: ENSMUSG00000026295
AA Change: L77*

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

DomainStartEndE-ValueType
Pfam:Spp-24 1 89 1.3e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000189225
AA Change: L25*
SMART Domains Protein: ENSMUSP00000141021
Gene: ENSMUSG00000026295
AA Change: L25*

DomainStartEndE-ValueType
Pfam:Spp-24 15 53 1.8e-18 PFAM
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,559,124 (GRCm39) F305L probably damaging Het
Ankrd12 T C 17: 66,291,398 (GRCm39) H1345R probably benign Het
Bloc1s5 A T 13: 38,787,859 (GRCm39) M175K probably damaging Het
C9 T A 15: 6,526,613 (GRCm39) M549K probably benign Het
Cfap52 A G 11: 67,845,007 (GRCm39) probably benign Het
Cntnap2 A T 6: 46,998,670 (GRCm39) K907N possibly damaging Het
Cox8c T A 12: 102,865,752 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26b1 A T 6: 84,551,294 (GRCm39) N307K possibly damaging Het
Cyp2s1 T C 7: 25,515,849 (GRCm39) probably benign Het
Dpysl2 G A 14: 67,061,847 (GRCm39) T253I probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Egflam T A 15: 7,252,293 (GRCm39) I835F probably damaging Het
Eif5a A T 11: 69,809,989 (GRCm39) H51Q possibly damaging Het
Fancd2 T A 6: 113,539,422 (GRCm39) I637N probably damaging Het
Gpr173 T A X: 151,130,092 (GRCm39) H127L probably damaging Het
Klc3 T C 7: 19,130,969 (GRCm39) I203V probably benign Het
Lsg1 T C 16: 30,390,060 (GRCm39) K352E probably benign Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Med12l G T 3: 58,984,510 (GRCm39) D483Y probably damaging Het
Mlh1 A G 9: 111,058,943 (GRCm39) Y694H probably benign Het
Mmrn1 A G 6: 60,935,160 (GRCm39) R219G possibly damaging Het
Nsd1 T C 13: 55,450,646 (GRCm39) probably benign Het
Or2y1f A T 11: 49,184,555 (GRCm39) M136L possibly damaging Het
Or8k33 C T 2: 86,384,224 (GRCm39) M81I possibly damaging Het
Pax3 A T 1: 78,098,424 (GRCm39) S322T possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Plekhb2 T C 1: 34,916,022 (GRCm39) V187A possibly damaging Het
Pot1a A T 6: 25,794,592 (GRCm39) F31I probably damaging Het
Rpap1 A T 2: 119,613,720 (GRCm39) probably benign Het
Scmh1 T A 4: 120,385,343 (GRCm39) probably benign Het
Scn2a A G 2: 65,560,522 (GRCm39) T1251A probably damaging Het
Siglecf T C 7: 43,001,634 (GRCm39) V148A probably benign Het
Slit3 A G 11: 35,598,969 (GRCm39) *1524W probably null Het
Son C A 16: 91,455,359 (GRCm39) P1369T possibly damaging Het
Sptbn4 T C 7: 27,090,976 (GRCm39) Q1405R probably damaging Het
Traf3ip2 G T 10: 39,522,902 (GRCm39) A463S possibly damaging Het
Trappc11 T C 8: 47,960,617 (GRCm39) E27G probably damaging Het
Vmn2r12 C T 5: 109,233,858 (GRCm39) V785I probably damaging Het
Zc3h8 A G 2: 128,785,846 (GRCm39) probably benign Het
Zfp57 T A 17: 37,317,056 (GRCm39) S45T probably damaging Het
Other mutations in Spp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02066:Spp2 APN 1 88,344,965 (GRCm39) missense probably benign
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
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
Posted On 2015-04-16