Incidental Mutation 'R2271:Bcan'
ID 242450
Institutional Source Beutler Lab
Gene Symbol Bcan
Ensembl Gene ENSMUSG00000004892
Gene Name brevican
Synonyms Cspg7
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2271 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 87894838-87907537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87900401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 611 (S611C)
Ref Sequence ENSEMBL: ENSMUSP00000088491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090971] [ENSMUST00000194193]
AlphaFold Q61361
Predicted Effect probably damaging
Transcript: ENSMUST00000090971
AA Change: S611C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088491
Gene: ENSMUSG00000004892
AA Change: S611C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 51 138 5.74e-13 SMART
LINK 154 251 9.37e-55 SMART
LINK 255 353 2.67e-59 SMART
low complexity region 355 369 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
low complexity region 455 469 N/A INTRINSIC
low complexity region 505 519 N/A INTRINSIC
EGF 625 658 1.07e-5 SMART
CLECT 664 785 1.15e-33 SMART
CCP 791 847 2.7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193276
Predicted Effect probably benign
Transcript: ENSMUST00000194193
SMART Domains Protein: ENSMUSP00000141455
Gene: ENSMUSG00000004892

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:IGv 51 105 1e-33 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194596
Meta Mutation Damage Score 0.0854 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutation of this gene results in impaired LTP maintenance, but mutant animals show normal behavior and spatial learning capabilities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,857,575 (GRCm39) Q194L probably damaging Het
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Efcab6 T A 15: 83,831,200 (GRCm39) R571S probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
U2surp T C 9: 95,373,473 (GRCm39) E232G possibly damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D probably damaging Het
Other mutations in Bcan
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Bcan APN 3 87,901,481 (GRCm39) missense probably damaging 1.00
IGL00981:Bcan APN 3 87,905,139 (GRCm39) missense possibly damaging 0.66
IGL02355:Bcan APN 3 87,901,449 (GRCm39) missense possibly damaging 0.65
IGL02362:Bcan APN 3 87,901,449 (GRCm39) missense possibly damaging 0.65
IGL03190:Bcan APN 3 87,900,357 (GRCm39) unclassified probably benign
G1patch:Bcan UTSW 3 87,902,791 (GRCm39) missense possibly damaging 0.69
R0392:Bcan UTSW 3 87,900,869 (GRCm39) nonsense probably null
R0938:Bcan UTSW 3 87,900,461 (GRCm39) missense possibly damaging 0.96
R1118:Bcan UTSW 3 87,896,534 (GRCm39) missense probably damaging 1.00
R1559:Bcan UTSW 3 87,901,519 (GRCm39) missense probably damaging 0.96
R1653:Bcan UTSW 3 87,901,503 (GRCm39) missense probably damaging 0.99
R1699:Bcan UTSW 3 87,896,543 (GRCm39) missense probably damaging 1.00
R1762:Bcan UTSW 3 87,900,932 (GRCm39) missense probably benign 0.00
R1802:Bcan UTSW 3 87,900,415 (GRCm39) missense possibly damaging 0.58
R1870:Bcan UTSW 3 87,902,908 (GRCm39) missense probably damaging 1.00
R1929:Bcan UTSW 3 87,900,401 (GRCm39) missense probably damaging 1.00
R2172:Bcan UTSW 3 87,903,888 (GRCm39) missense probably damaging 1.00
R4036:Bcan UTSW 3 87,903,423 (GRCm39) critical splice donor site probably null
R4363:Bcan UTSW 3 87,904,405 (GRCm39) missense probably damaging 1.00
R4491:Bcan UTSW 3 87,897,540 (GRCm39) nonsense probably null
R5111:Bcan UTSW 3 87,901,514 (GRCm39) missense probably damaging 1.00
R5122:Bcan UTSW 3 87,901,514 (GRCm39) missense probably damaging 1.00
R5167:Bcan UTSW 3 87,901,514 (GRCm39) missense probably damaging 1.00
R5234:Bcan UTSW 3 87,903,453 (GRCm39) missense probably damaging 1.00
R5363:Bcan UTSW 3 87,902,794 (GRCm39) missense probably damaging 1.00
R5365:Bcan UTSW 3 87,896,542 (GRCm39) missense probably damaging 1.00
R5544:Bcan UTSW 3 87,900,360 (GRCm39) critical splice donor site probably null
R5663:Bcan UTSW 3 87,902,920 (GRCm39) missense probably damaging 0.98
R6044:Bcan UTSW 3 87,902,950 (GRCm39) missense probably damaging 1.00
R6495:Bcan UTSW 3 87,903,904 (GRCm39) missense possibly damaging 0.91
R6725:Bcan UTSW 3 87,902,791 (GRCm39) missense possibly damaging 0.69
R6764:Bcan UTSW 3 87,895,685 (GRCm39) missense probably damaging 1.00
R7000:Bcan UTSW 3 87,895,686 (GRCm39) nonsense probably null
R7294:Bcan UTSW 3 87,902,831 (GRCm39) missense possibly damaging 0.51
R7338:Bcan UTSW 3 87,901,550 (GRCm39) missense probably damaging 1.00
R7942:Bcan UTSW 3 87,900,382 (GRCm39) missense probably benign 0.40
R8428:Bcan UTSW 3 87,904,405 (GRCm39) missense probably damaging 1.00
R8487:Bcan UTSW 3 87,896,516 (GRCm39) missense probably damaging 0.98
R8801:Bcan UTSW 3 87,904,582 (GRCm39) missense probably damaging 1.00
R8803:Bcan UTSW 3 87,903,999 (GRCm39) missense probably benign 0.21
R8898:Bcan UTSW 3 87,895,695 (GRCm39) missense probably benign 0.21
R8993:Bcan UTSW 3 87,901,529 (GRCm39) missense probably benign 0.28
R9372:Bcan UTSW 3 87,895,610 (GRCm39) missense probably benign 0.21
R9503:Bcan UTSW 3 87,900,748 (GRCm39) missense probably benign 0.00
R9504:Bcan UTSW 3 87,900,748 (GRCm39) missense probably benign 0.00
R9505:Bcan UTSW 3 87,900,748 (GRCm39) missense probably benign 0.00
R9519:Bcan UTSW 3 87,902,968 (GRCm39) missense probably benign 0.06
R9519:Bcan UTSW 3 87,902,967 (GRCm39) missense probably damaging 0.97
R9519:Bcan UTSW 3 87,902,964 (GRCm39) missense probably damaging 1.00
X0013:Bcan UTSW 3 87,903,466 (GRCm39) missense possibly damaging 0.69
Z1176:Bcan UTSW 3 87,902,957 (GRCm39) missense probably benign 0.01
Z1176:Bcan UTSW 3 87,898,062 (GRCm39) missense probably damaging 1.00
Z1176:Bcan UTSW 3 87,898,057 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAGTGAGATGTGAGCTAC -3'
(R):5'- AGCATTCACTCTCCCAGGTG -3'

Sequencing Primer
(F):5'- CTACAGCAGAGGGCCCAAG -3'
(R):5'- ATCTACTCCTGGTGGGGCAAG -3'
Posted On 2014-10-16