Incidental Mutation 'R1921:Ibsp'
ID 213045
Institutional Source Beutler Lab
Gene Symbol Ibsp
Ensembl Gene ENSMUSG00000029306
Gene Name integrin binding sialoprotein
Synonyms Bsp2, bone sialoprotein, BSP, Bsp
MMRRC Submission 039939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1921 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104447153-104459338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104458078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 205 (E205G)
Ref Sequence ENSEMBL: ENSMUSP00000031246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031246]
AlphaFold Q61711
Predicted Effect probably damaging
Transcript: ENSMUST00000031246
AA Change: E205G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: E205G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:BSP_II 17 321 2.8e-127 PFAM
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.3%
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 a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight/size, delayed long bone growth and mineralization with low bone turn over due to reduced osteoclast formation, delayed intramembranous ossification, progressive periodontal breakdown, and severe alveolar and mandibular bone loss. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Abhd2 T C 7: 78,998,104 (GRCm39) I212T possibly damaging Het
Adam7 A C 14: 68,750,074 (GRCm39) S449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aox3 T C 1: 58,219,810 (GRCm39) Y1137H probably damaging Het
Atp11b T C 3: 35,888,474 (GRCm39) Y715H probably damaging Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
Btbd7 A G 12: 102,760,055 (GRCm39) I631T probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,372,679 (GRCm39) E458G probably damaging Het
Cptp C T 4: 155,950,995 (GRCm39) R157H probably damaging Het
Dcbld1 A C 10: 52,195,747 (GRCm39) E318D possibly damaging Het
Ddr2 G T 1: 169,831,814 (GRCm39) P197Q probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dlgap2 A G 8: 14,893,624 (GRCm39) K980E probably benign Het
Drc7 T C 8: 95,782,644 (GRCm39) V3A unknown Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
Ect2l T C 10: 18,018,752 (GRCm39) D548G possibly damaging Het
Efcab10 A T 12: 33,448,434 (GRCm39) Y89F probably benign Het
Eif1ad CGAGGAGGAGGAGGAGGAGG CGAGGAGGAGGAGGAGG 19: 5,420,086 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,732 (GRCm39) T147A probably damaging Het
Fbxl5 T A 5: 43,922,832 (GRCm39) E189D probably benign Het
Fer1l6 T A 15: 58,497,080 (GRCm39) S1217T probably damaging Het
Frem2 A T 3: 53,560,916 (GRCm39) V1197D possibly damaging Het
Fsip2 T A 2: 82,811,127 (GRCm39) L2482* probably null Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Gipc3 T A 10: 81,174,049 (GRCm39) I242F probably damaging Het
Hoxb1 T A 11: 96,256,938 (GRCm39) Y96N probably damaging Het
Ibtk A G 9: 85,585,135 (GRCm39) S1170P probably benign Het
Igfn1 A G 1: 135,893,801 (GRCm39) probably null Het
Iqsec1 A G 6: 90,639,877 (GRCm39) S954P probably benign Het
Kalrn A T 16: 34,212,463 (GRCm39) D28E probably benign Het
Lrmda T C 14: 22,627,938 (GRCm39) F52L probably damaging Het
Lrp2 T C 2: 69,353,631 (GRCm39) D543G probably damaging Het
Lrrtm3 T C 10: 63,924,157 (GRCm39) T337A probably benign Het
Marf1 C T 16: 13,946,465 (GRCm39) D1219N possibly damaging Het
Mkln1 A G 6: 31,405,113 (GRCm39) K118R probably benign Het
Nedd4l T C 18: 65,300,646 (GRCm39) probably null Het
Neu2 A G 1: 87,525,023 (GRCm39) E336G probably benign Het
Nfasc A G 1: 132,538,543 (GRCm39) F448S probably damaging Het
Nlrx1 C A 9: 44,165,431 (GRCm39) E822* probably null Het
Nr5a1 T C 2: 38,584,108 (GRCm39) Y437C probably damaging Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or7a37 T A 10: 78,805,975 (GRCm39) L164* probably null Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Phtf1 C T 3: 103,876,438 (GRCm39) Q13* probably null Het
Pnldc1 A G 17: 13,107,815 (GRCm39) L525P possibly damaging Het
Ppl T A 16: 4,923,988 (GRCm39) D162V possibly damaging Het
Prkdc T A 16: 15,532,079 (GRCm39) S1448T possibly damaging Het
Ptgdr A G 14: 45,090,738 (GRCm39) I340T probably benign Het
Recql T C 6: 142,311,315 (GRCm39) I458M probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rtp1 T A 16: 23,250,160 (GRCm39) I175N probably damaging Het
Ryr1 A G 7: 28,754,369 (GRCm39) M3523T probably damaging Het
S100a16 T C 3: 90,449,703 (GRCm39) L62P probably damaging Het
Samd11 T C 4: 156,333,166 (GRCm39) E364G probably damaging Het
Satb1 C A 17: 52,049,143 (GRCm39) G603* probably null Het
Shroom3 T A 5: 93,110,224 (GRCm39) probably null Het
Slc25a15 A G 8: 22,885,777 (GRCm39) S3P probably benign Het
Socs2 A T 10: 95,248,900 (GRCm39) L71* probably null Het
Sptbn1 T C 11: 30,054,469 (GRCm39) E2208G probably damaging Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Susd1 T A 4: 59,412,191 (GRCm39) T121S probably benign Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar4 A G 10: 23,837,239 (GRCm39) D283G probably damaging Het
Tango6 T A 8: 107,415,426 (GRCm39) D82E probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tle3 G A 9: 61,318,622 (GRCm39) probably null Het
Tmem45a A G 16: 56,642,665 (GRCm39) F169L probably benign Het
Trp53rkb T A 2: 166,637,743 (GRCm39) V233E probably damaging Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubgcp3 A T 8: 12,671,932 (GRCm39) L770* probably null Het
Tut1 G A 19: 8,943,466 (GRCm39) G851D probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vmn1r125 T A 7: 21,006,530 (GRCm39) Y143N probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r95 T A 17: 18,644,575 (GRCm39) N70K probably benign Het
Vps35l A G 7: 118,432,971 (GRCm39) N568S probably damaging Het
Wdr59 A T 8: 112,213,582 (GRCm39) L311* probably null Het
Wnt2 A G 6: 18,030,252 (GRCm39) L12P unknown Het
Xrn1 T C 9: 95,881,550 (GRCm39) I700T probably benign Het
Ypel1 A G 16: 16,900,443 (GRCm39) H98R probably benign Het
Zfp219 T C 14: 52,245,691 (GRCm39) T434A probably benign Het
Zik1 A C 7: 10,223,943 (GRCm39) C385G probably damaging Het
Other mutations in Ibsp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Ibsp APN 5 104,457,934 (GRCm39) missense probably benign 0.27
IGL02317:Ibsp APN 5 104,450,332 (GRCm39) missense probably damaging 1.00
IGL02539:Ibsp APN 5 104,450,149 (GRCm39) missense probably damaging 0.99
IGL03236:Ibsp APN 5 104,453,871 (GRCm39) missense probably benign 0.30
crunch UTSW 5 104,457,148 (GRCm39) missense probably damaging 1.00
I2289:Ibsp UTSW 5 104,450,353 (GRCm39) missense possibly damaging 0.64
PIT4445001:Ibsp UTSW 5 104,450,170 (GRCm39) missense possibly damaging 0.94
R0049:Ibsp UTSW 5 104,450,024 (GRCm39) missense probably damaging 1.00
R0049:Ibsp UTSW 5 104,450,024 (GRCm39) missense probably damaging 1.00
R0234:Ibsp UTSW 5 104,457,935 (GRCm39) small deletion probably benign
R0610:Ibsp UTSW 5 104,458,000 (GRCm39) missense probably benign 0.07
R0656:Ibsp UTSW 5 104,457,886 (GRCm39) critical splice acceptor site probably null
R1168:Ibsp UTSW 5 104,450,018 (GRCm39) missense probably damaging 0.99
R1440:Ibsp UTSW 5 104,458,405 (GRCm39) missense unknown
R1569:Ibsp UTSW 5 104,458,017 (GRCm39) missense probably damaging 1.00
R2172:Ibsp UTSW 5 104,458,296 (GRCm39) missense probably damaging 1.00
R2879:Ibsp UTSW 5 104,458,260 (GRCm39) missense possibly damaging 0.88
R4399:Ibsp UTSW 5 104,457,148 (GRCm39) missense probably damaging 1.00
R4517:Ibsp UTSW 5 104,453,863 (GRCm39) nonsense probably null
R5417:Ibsp UTSW 5 104,458,335 (GRCm39) missense possibly damaging 0.95
R5575:Ibsp UTSW 5 104,457,925 (GRCm39) missense possibly damaging 0.78
R6183:Ibsp UTSW 5 104,453,896 (GRCm39) missense possibly damaging 0.95
R6273:Ibsp UTSW 5 104,458,167 (GRCm39) missense probably benign 0.15
R6295:Ibsp UTSW 5 104,449,987 (GRCm39) splice site probably null
R7061:Ibsp UTSW 5 104,457,768 (GRCm39) splice site probably null
R7133:Ibsp UTSW 5 104,450,172 (GRCm39) nonsense probably null
R7202:Ibsp UTSW 5 104,450,027 (GRCm39) missense probably benign 0.02
R7205:Ibsp UTSW 5 104,458,297 (GRCm39) missense probably damaging 0.99
R7769:Ibsp UTSW 5 104,458,050 (GRCm39) missense probably damaging 0.97
R7769:Ibsp UTSW 5 104,453,871 (GRCm39) missense probably benign 0.15
R8506:Ibsp UTSW 5 104,457,947 (GRCm39) missense probably damaging 1.00
R8840:Ibsp UTSW 5 104,458,006 (GRCm39) missense probably benign 0.00
R9396:Ibsp UTSW 5 104,458,297 (GRCm39) missense probably damaging 1.00
R9431:Ibsp UTSW 5 104,457,167 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACATTCCTTTCCAGGCTGG -3'
(R):5'- TAAGCTCGGTAAGTGTCGCC -3'

Sequencing Primer
(F):5'- TCCAGGCTGGAGATGCAG -3'
(R):5'- CCATACTCAACGGTGCTGC -3'
Posted On 2014-07-14