Incidental Mutation 'R7141:Spp2'
ID 553318
Institutional Source Beutler Lab
Gene Symbol Spp2
Ensembl Gene ENSMUSG00000026295
Gene Name secreted phosphoprotein 2
Synonyms spp24, 0610038O04Rik
MMRRC Submission 045221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R7141 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 88334683-88354160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88335050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 27 (Y27H)
Ref Sequence ENSEMBL: ENSMUSP00000027518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027518] [ENSMUST00000176708] [ENSMUST00000189225]
AlphaFold Q8K1I3
Predicted Effect probably damaging
Transcript: ENSMUST00000027518
AA Change: Y27H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027518
Gene: ENSMUSG00000026295
AA Change: Y27H

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 benign
Transcript: ENSMUST00000189225
SMART Domains Protein: ENSMUSP00000141021
Gene: ENSMUSG00000026295

DomainStartEndE-ValueType
Pfam:Spp-24 15 53 1.8e-18 PFAM
Meta Mutation Damage Score 0.1778 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A C 1: 74,323,270 (GRCm39) probably null Het
Abhd10 C T 16: 45,563,169 (GRCm39) R29Q probably benign Het
Adgrv1 A G 13: 81,640,620 (GRCm39) Y3369H probably benign Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Apba3 A G 10: 81,108,889 (GRCm39) I551V probably damaging Het
Appbp2 A T 11: 85,082,577 (GRCm39) Y551* probably null Het
Btbd17 T C 11: 114,682,641 (GRCm39) N357S possibly damaging Het
Casp2 T C 6: 42,257,329 (GRCm39) F426S possibly damaging Het
Cdh5 A G 8: 104,839,633 (GRCm39) N35D probably benign Het
Cep350 G T 1: 155,790,494 (GRCm39) Q1354K probably damaging Het
Cep44 A G 8: 56,992,886 (GRCm39) C243R probably damaging Het
Chst4 A T 8: 110,757,471 (GRCm39) S131T probably damaging Het
Cox15 T C 19: 43,725,186 (GRCm39) N406D probably benign Het
Cttnbp2 C T 6: 18,380,467 (GRCm39) R1467H probably benign Het
Dock8 A G 19: 25,158,984 (GRCm39) D1714G probably null Het
Erbb2 G T 11: 98,318,135 (GRCm39) R457L probably damaging Het
Esyt3 T C 9: 99,203,493 (GRCm39) N463S probably benign Het
Fam171a1 C T 2: 3,226,189 (GRCm39) Q441* probably null Het
Fam186b T A 15: 99,181,773 (GRCm39) M142L probably benign Het
Git2 G T 5: 114,907,759 (GRCm39) C35* probably null Het
Gm21103 T G 14: 17,482,795 (GRCm39) Q202P probably damaging Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Hmcn2 C A 2: 31,250,908 (GRCm39) T790K probably benign Het
Hspg2 T A 4: 137,279,427 (GRCm39) L3114H probably damaging Het
Igkv3-10 A T 6: 70,549,965 (GRCm39) Q37L possibly damaging Het
Kcp G T 6: 29,487,511 (GRCm39) Y1106* probably null Het
Khsrp T C 17: 57,332,602 (GRCm39) D226G possibly damaging Het
Klre1 T A 6: 129,560,129 (GRCm39) W134R probably damaging Het
Lrrc66 A G 5: 73,787,320 (GRCm39) I10T probably benign Het
Map4 T C 9: 109,807,938 (GRCm39) M1T probably null Het
Met T A 6: 17,527,154 (GRCm39) I535K probably benign Het
Mmut T C 17: 41,263,730 (GRCm39) V500A possibly damaging Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mrpl41 A G 2: 24,864,468 (GRCm39) L68P probably damaging Het
Mtmr4 T C 11: 87,491,439 (GRCm39) W135R probably damaging Het
Myh10 A G 11: 68,692,965 (GRCm39) D1420G probably benign Het
Naglu A C 11: 100,963,056 (GRCm39) D229A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Ncln G T 10: 81,323,683 (GRCm39) Y517* probably null Het
Nr1h4 G A 10: 89,334,091 (GRCm39) R100* probably null Het
Or5k1 G A 16: 58,617,771 (GRCm39) T146M probably benign Het
P2rx5 A T 11: 73,051,474 (GRCm39) T18S probably damaging Het
Pclo T C 5: 14,729,271 (GRCm39) S2710P unknown Het
Pdhx A T 2: 102,903,659 (GRCm39) F46I probably benign Het
Piezo2 A T 18: 63,278,181 (GRCm39) L241* probably null Het
Pitpnm1 G A 19: 4,152,787 (GRCm39) V65M probably damaging Het
Rgs3 A G 4: 62,608,724 (GRCm39) D330G probably damaging Het
Scaf8 T C 17: 3,209,457 (GRCm39) V60A unknown Het
Sema4c A G 1: 36,592,101 (GRCm39) Y249H probably damaging Het
Sugct T A 13: 17,819,372 (GRCm39) I158F possibly damaging Het
Sympk A T 7: 18,788,017 (GRCm39) I1178F probably benign Het
Tmppe T C 9: 114,234,036 (GRCm39) Y112H probably benign Het
Trp53bp2 A G 1: 182,276,073 (GRCm39) T187A Het
Tspoap1 A G 11: 87,665,523 (GRCm39) S754G probably damaging Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Vmn2r70 G C 7: 85,208,044 (GRCm39) S811C probably benign Het
Zfp638 T C 6: 83,844,181 (GRCm39) S15P unknown Het
Zfp763 A G 17: 33,237,769 (GRCm39) S459P probably 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
R6707:Spp2 UTSW 1 88,345,016 (GRCm39) critical splice donor site probably null
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'- AGGCAATGCTGAAGACGCTG -3'
(R):5'- AGGACAGACTGTGATCATTGTAAAC -3'

Sequencing Primer
(F):5'- AATGCTGAAGACGCTGGCTTTG -3'
(R):5'- TCTACTCAACAAAGTAGGTGAAGTC -3'
Posted On 2019-05-15