Incidental Mutation 'R1929:Bcan'
ID 215144
Institutional Source Beutler Lab
Gene Symbol Bcan
Ensembl Gene ENSMUSG00000004892
Gene Name brevican
Synonyms Cspg7
MMRRC Submission 039947-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1929 (G1)
Quality Score 221
Status 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: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 98% (107/109)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 A T 1: 165,337,866 (GRCm39) E160V probably damaging Het
Amdhd2 T C 17: 24,376,860 (GRCm39) probably null Het
Angel1 A C 12: 86,749,093 (GRCm39) L656V probably damaging Het
Ankrd12 G A 17: 66,293,681 (GRCm39) S584L possibly damaging Het
Apbb2 T A 5: 66,464,958 (GRCm39) N679Y probably benign Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bnip3 T G 7: 138,496,359 (GRCm39) silent Het
Btc T C 5: 91,510,260 (GRCm39) Y111C probably damaging Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cd2bp2 T C 7: 126,793,050 (GRCm39) D324G probably benign Het
Cdc20b A G 13: 113,208,451 (GRCm39) T216A probably benign Het
Cdk17 T C 10: 93,064,540 (GRCm39) Y270H probably damaging Het
Cenpv T C 11: 62,416,059 (GRCm39) E230G probably benign Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cracr2a T A 6: 127,584,261 (GRCm39) F107I probably damaging Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27b1 T A 10: 126,884,181 (GRCm39) V11D probably damaging Het
Ddc T C 11: 11,785,764 (GRCm39) N308D 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
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 65,867,224 (GRCm39) S2785G probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Dtx3l A T 16: 35,754,059 (GRCm39) D182E possibly damaging Het
Efcab6 A G 15: 83,777,163 (GRCm39) probably benign Het
Elac2 T A 11: 64,870,015 (GRCm39) S27T 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
Fgd6 T C 10: 93,880,868 (GRCm39) V574A probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Fmo1 A T 1: 162,661,424 (GRCm39) D286E probably damaging Het
Fmo4 A T 1: 162,626,616 (GRCm39) I310N possibly damaging Het
Focad A G 4: 88,260,449 (GRCm39) N902D unknown Het
Focad A G 4: 88,315,416 (GRCm39) S1525G probably benign Het
Fras1 T C 5: 96,815,296 (GRCm39) W1338R probably benign Het
Fry A G 5: 150,324,389 (GRCm39) I1151V probably null Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Gm10076 T G 14: 105,919,304 (GRCm39) noncoding transcript Het
Gm5698 T G 1: 31,017,042 (GRCm39) D3A probably damaging Het
Gngt2 C T 11: 95,735,972 (GRCm39) probably benign Het
Gsdma T C 11: 98,562,193 (GRCm39) probably null Het
Gtf2h3 A T 5: 124,740,262 (GRCm39) probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Itpr1 T A 6: 108,470,716 (GRCm39) C2214S probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnk16 A G 14: 20,315,347 (GRCm39) V72A probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Matr3 T A 18: 35,721,378 (GRCm39) probably benign Het
Med13l T G 5: 118,866,898 (GRCm39) F651V probably benign Het
Mfsd11 T C 11: 116,764,740 (GRCm39) V388A probably benign Het
Mki67 C T 7: 135,299,794 (GRCm39) V1747I possibly damaging Het
Mms22l T C 4: 24,535,936 (GRCm39) probably benign Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Myo5b G T 18: 74,866,996 (GRCm39) L1382F probably 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
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1e1c T A 11: 73,266,427 (GRCm39) V287E probably damaging Het
Or4a15 A G 2: 89,193,353 (GRCm39) V140A probably benign Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
P4ha1 A G 10: 59,206,859 (GRCm39) E523G probably damaging Het
Per3 T A 4: 151,103,342 (GRCm39) Y530F probably damaging Het
Pes1 C A 11: 3,919,524 (GRCm39) L66I probably damaging Het
Pigr G A 1: 130,774,399 (GRCm39) probably benign Het
Pkd1l1 A T 11: 8,786,197 (GRCm39) probably benign Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Pramel22 G A 4: 143,380,712 (GRCm39) T437I probably damaging Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Rab3gap2 T A 1: 185,015,739 (GRCm39) probably null Het
Rgs3 A G 4: 62,620,384 (GRCm39) I537V probably damaging Het
Rhobtb2 T G 14: 70,033,893 (GRCm39) D444A probably damaging Het
Rnf40 T C 7: 127,190,956 (GRCm39) S314P probably damaging Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Samd3 A G 10: 26,139,884 (GRCm39) probably benign Het
Sec61a2 A G 2: 5,878,547 (GRCm39) probably benign Het
Serpina3m G A 12: 104,355,581 (GRCm39) A83T probably damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Sez6 C T 11: 77,863,758 (GRCm39) T439I probably damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Slc26a2 A G 18: 61,331,650 (GRCm39) C594R possibly damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Spg11 C T 2: 121,890,688 (GRCm39) V2044M probably damaging Het
Stx18 T A 5: 38,285,383 (GRCm39) probably null Het
Suclg2 T C 6: 95,566,075 (GRCm39) probably benign Het
Tlr4 A T 4: 66,757,681 (GRCm39) H158L probably damaging Het
Tmem131 A G 1: 36,851,352 (GRCm39) V966A possibly damaging Het
Tram1l1 T A 3: 124,115,635 (GRCm39) I265N probably damaging Het
Trim58 T A 11: 58,531,493 (GRCm39) F67Y possibly damaging Het
Ttc19 A G 11: 62,172,650 (GRCm39) Q74R probably benign Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn2r16 A G 5: 109,487,124 (GRCm39) Y115C possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp451 A G 1: 33,821,274 (GRCm39) F151L probably damaging Het
Zfp451 G A 1: 33,822,937 (GRCm39) P99S probably benign 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
Zfp804b A G 5: 6,819,748 (GRCm39) V1069A probably benign 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
R2172:Bcan UTSW 3 87,903,888 (GRCm39) missense probably damaging 1.00
R2271:Bcan UTSW 3 87,900,401 (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'- CATTCTGTGTGGCCAGTGAG -3'
(R):5'- AGCATTCACTCTCCCAGGTG -3'

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