Incidental Mutation 'R1569:Ibsp'
ID 177110
Institutional Source Beutler Lab
Gene Symbol Ibsp
Ensembl Gene ENSMUSG00000029306
Gene Name integrin binding sialoprotein
Synonyms Bsp2, bone sialoprotein, BSP, Bsp
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 104447153-104459338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104458017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 185 (T185S)
Ref Sequence ENSEMBL: ENSMUSP00000031246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031246]
AlphaFold Q61711
Predicted Effect probably damaging
Transcript: ENSMUST00000031246
AA Change: T185S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031246
Gene: ENSMUSG00000029306
AA Change: T185S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:BSP_II 17 321 2.8e-127 PFAM
Meta Mutation Damage Score 0.3465 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N 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
R1921:Ibsp UTSW 5 104,458,078 (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'- AGGACAGGATTATCACGTACACCCC -3'
(R):5'- TGAAACCCGTTCAGAAGGACAGC -3'

Sequencing Primer
(F):5'- TTGGAACGCATCCCAAAGG -3'
(R):5'- AGCTGTCTGGGTGCCAAC -3'
Posted On 2014-04-24