Incidental Mutation 'IGL02355:Bcan'
ID 289663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcan
Ensembl Gene ENSMUSG00000004892
Gene Name brevican
Synonyms Cspg7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02355
Quality Score
Status
Chromosome 3
Chromosomal Location 87894838-87907537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87901449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 418 (D418N)
Ref Sequence ENSEMBL: ENSMUSP00000088491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090971] [ENSMUST00000194193]
AlphaFold Q61361
Predicted Effect possibly damaging
Transcript: ENSMUST00000090971
AA Change: D418N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088491
Gene: ENSMUSG00000004892
AA Change: D418N

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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 C A 8: 25,187,207 (GRCm39) C428F probably damaging Het
Alas1 T C 9: 106,113,838 (GRCm39) Y469C probably damaging Het
Asxl1 C T 2: 153,243,706 (GRCm39) L1419F probably benign Het
Cdc42bpg A G 19: 6,360,839 (GRCm39) D199G possibly damaging Het
Chst15 T C 7: 131,868,401 (GRCm39) N340D probably benign Het
Col12a1 T G 9: 79,537,993 (GRCm39) probably benign Het
Cyp2c67 T A 19: 39,631,849 (GRCm39) H116L probably benign Het
Cyp2c67 G A 19: 39,605,826 (GRCm39) R357* probably null Het
Ears2 T C 7: 121,643,773 (GRCm39) D395G probably benign Het
Fam227a A T 15: 79,528,139 (GRCm39) probably benign Het
Fap A G 2: 62,403,842 (GRCm39) V11A probably benign Het
Ganc A G 2: 120,264,238 (GRCm39) D397G probably damaging Het
Gjb6 C A 14: 57,361,752 (GRCm39) G170C possibly damaging Het
Gria2 A T 3: 80,614,244 (GRCm39) W599R probably damaging Het
Gvin-ps5 T C 7: 105,929,480 (GRCm39) noncoding transcript Het
Ighv1-64 A G 12: 115,471,236 (GRCm39) S94P probably benign Het
Kifc3 C T 8: 95,836,507 (GRCm39) A85T probably damaging Het
Lifr G A 15: 7,194,174 (GRCm39) probably null Het
Lonp2 T G 8: 87,350,874 (GRCm39) S21R probably benign Het
Nxpe3 A G 16: 55,710,949 (GRCm39) V30A probably benign Het
Olfml1 T C 7: 107,167,010 (GRCm39) V13A probably benign Het
Or10w1 T C 19: 13,632,597 (GRCm39) V268A probably benign Het
Or1af1 A G 2: 37,109,681 (GRCm39) Y60C probably damaging Het
Pcnt G A 10: 76,210,996 (GRCm39) Q2376* probably null Het
Pglyrp2 A G 17: 32,635,996 (GRCm39) L380P probably damaging Het
Plin3 A G 17: 56,593,636 (GRCm39) V26A probably benign Het
Potefam1 T C 2: 111,041,996 (GRCm39) probably benign Het
Pramel25 A G 4: 143,519,580 (GRCm39) S114G probably damaging Het
Rims1 A G 1: 22,522,288 (GRCm39) I470T probably damaging Het
Rora T C 9: 69,281,374 (GRCm39) Y329H probably damaging Het
Scnn1b G A 7: 121,516,770 (GRCm39) R503H probably damaging Het
Sec14l1 A G 11: 117,035,675 (GRCm39) D237G possibly damaging Het
Selplg A G 5: 113,957,467 (GRCm39) S280P probably benign Het
Serpina12 A G 12: 104,004,140 (GRCm39) L164P probably benign Het
Sik2 C T 9: 50,828,903 (GRCm39) W176* probably null Het
Slc2a1 T C 4: 118,993,612 (GRCm39) F483S possibly damaging Het
Speg A G 1: 75,400,559 (GRCm39) D2573G possibly damaging Het
Stil C T 4: 114,867,308 (GRCm39) S239L probably damaging Het
Tmem94 C A 11: 115,685,571 (GRCm39) S941R probably damaging Het
Tnfrsf11b T A 15: 54,115,778 (GRCm39) D273V probably damaging Het
Tns2 A G 15: 102,020,725 (GRCm39) T864A probably benign Het
Zfpm2 A G 15: 40,962,890 (GRCm39) H184R 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
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
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
Posted On 2015-04-16