Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Bcan'

210617

Institutional Source

Beutler Lab

Gene Symbol

Bcan

Ensembl Gene

ENSMUSG00000004892

Gene Name

brevican

Synonyms

Cspg7

MMRRC Submission

039892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1870 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87894838-87907537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87902908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

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: Y290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088491
Gene: ENSMUSG00000004892
AA Change: Y290C

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Blast:IGv	51	105	1e-33	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194596

Meta Mutation Damage Score

0.8671

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abca5	C	A	11: 110,220,043 (GRCm39)	V8L	probably benign	Het
Abcc8	C	T	7: 45,773,339 (GRCm39)	E797K	probably benign	Het
Acd	C	A	8: 106,425,039 (GRCm39)		probably null	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,178,297 (GRCm39)	S38T	probably damaging	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,953,561 (GRCm39)	D224A	probably damaging	Het
Ccar2	A	G	14: 70,377,946 (GRCm39)	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,368,703 (GRCm39)	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,150,730 (GRCm39)	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,263,386 (GRCm39)	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,926,058 (GRCm39)	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802 (GRCm39)	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 86,922,462 (GRCm39)	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dennd4a	C	T	9: 64,804,516 (GRCm39)	A1285V	probably benign	Het
Dlat	A	G	9: 50,548,874 (GRCm39)	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,823,347 (GRCm39)	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Dnase2a	T	C	8: 85,635,392 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Fam83f	T	C	15: 80,574,113 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,363 (GRCm39)	L545F	probably damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Galk2	T	C	2: 125,817,183 (GRCm39)	L324P	probably benign	Het
Gdpd4	G	A	7: 97,622,162 (GRCm39)	V214I	probably benign	Het
Gfra3	C	T	18: 34,844,373 (GRCm39)	A56T	probably damaging	Het
Glyctk	A	G	9: 106,032,547 (GRCm39)	S489P	probably damaging	Het
Izumo4	A	T	10: 80,539,569 (GRCm39)	I135F	probably damaging	Het
Krt87	T	A	15: 101,385,071 (GRCm39)	T342S	probably benign	Het
L1td1	T	A	4: 98,625,714 (GRCm39)	D636E	possibly damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lpin1	A	G	12: 16,591,744 (GRCm39)	F828L	probably damaging	Het
Lrrc37	T	C	11: 103,511,431 (GRCm39)	D179G	unknown	Het
Mdn1	T	A	4: 32,763,339 (GRCm39)	D5146E	probably damaging	Het
Megf10	T	A	18: 57,324,257 (GRCm39)	Y99*	probably null	Het
Men1	A	G	19: 6,387,660 (GRCm39)	D285G	probably damaging	Het
Mertk	T	G	2: 128,643,116 (GRCm39)	D838E	probably benign	Het
Mta1	T	C	12: 113,091,694 (GRCm39)	S266P	possibly damaging	Het
Mta3	G	A	17: 84,089,397 (GRCm39)	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Or2m12	A	T	16: 19,105,357 (GRCm39)	N45K	probably damaging	Het
Or51e1	T	C	7: 102,358,961 (GRCm39)	I165T	possibly damaging	Het
Or8b38	A	T	9: 37,972,646 (GRCm39)	K10I	probably benign	Het
Or8d6	T	G	9: 39,854,117 (GRCm39)	I187R	probably damaging	Het
Pbrm1	T	A	14: 30,828,132 (GRCm39)	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,972 (GRCm39)	T297K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,426,185 (GRCm39)		probably null	Het
Pira2	T	C	7: 3,847,452 (GRCm39)	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,700,632 (GRCm39)	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,940,353 (GRCm39)	I439V	probably benign	Het
Pold4	T	A	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Ppef2	T	G	5: 92,398,371 (GRCm39)	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,723,817 (GRCm39)	I2026F	possibly damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,771,202 (GRCm39)	V409A	probably benign	Het
Rnpc3	T	C	3: 113,404,704 (GRCm39)		probably benign	Het
S100a10	A	T	3: 93,468,377 (GRCm39)	E36V	probably benign	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scaper	T	A	9: 55,593,222 (GRCm39)	I472F	probably damaging	Het
Sgcg	G	A	14: 61,477,896 (GRCm39)		probably benign	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Shoc1	G	A	4: 59,054,142 (GRCm39)		probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slc41a2	G	A	10: 83,137,029 (GRCm39)	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509 (GRCm38)		probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Ssr2	T	C	3: 88,483,949 (GRCm39)		probably benign	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Tnfrsf9	T	A	4: 151,018,804 (GRCm39)	C158*	probably null	Het
Tradd	T	C	8: 105,985,792 (GRCm39)	E253G	possibly damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	C	6: 124,201,170 (GRCm39)	I262M	probably benign	Het
Vps13a	A	G	19: 16,737,316 (GRCm39)	V91A	probably damaging	Het
Vwf	C	T	6: 125,619,902 (GRCm39)	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,752,772 (GRCm39)	G763D	probably damaging	Het
Zfp526	T	G	7: 24,924,594 (GRCm39)	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,483,021 (GRCm39)	F1733L	possibly damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zkscan4	A	G	13: 21,668,104 (GRCm39)	E185G	probably benign	Het

Other mutations in Bcan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- ATTGAAGCGGTTCTGCTTGC -3'
(R):5'- TATCAGGTGGGCAAGGTGAC -3'

Sequencing Primer
(F):5'- CTGGGGAAGCCAGTCTGG -3'
(R):5'- GAGCTTGCCTAGGAACGTTTAAAC -3'

Posted On

2014-06-30