Mutagenetix > Incidental Mutations

Incidental Mutation 'R8993:Bcan'

684527

Institutional Source

Beutler Lab

Gene Symbol

Bcan

Ensembl Gene

ENSMUSG00000004892

Gene Name

brevican

Synonyms

Cspg7

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87987531-88000230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87994222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 391 (A391V)

Ref Sequence

ENSEMBL: ENSMUSP00000088491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090971] [ENSMUST00000194193]

AlphaFold

Q61361

Predicted Effect

probably benign
Transcript: ENSMUST00000090971
AA Change: A391V

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088491
Gene: ENSMUSG00000004892
AA Change: A391V

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352		probably null	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313	T400S	unknown	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182	H576R	probably benign	Het
Zfp426	A	G	9: 20,475,000	F62L	probably damaging	Het

Other mutations in Bcan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Bcan	APN	3	87994174	missense	probably damaging	1.00
IGL00981:Bcan	APN	3	87997832	missense	possibly damaging	0.66
IGL02355:Bcan	APN	3	87994142	missense	possibly damaging	0.65
IGL02362:Bcan	APN	3	87994142	missense	possibly damaging	0.65
IGL03190:Bcan	APN	3	87993050	unclassified	probably benign
G1patch:Bcan	UTSW	3	87995484	missense	possibly damaging	0.69
R0392:Bcan	UTSW	3	87993562	nonsense	probably null
R0938:Bcan	UTSW	3	87993154	missense	possibly damaging	0.96
R1118:Bcan	UTSW	3	87989227	missense	probably damaging	1.00
R1559:Bcan	UTSW	3	87994212	missense	probably damaging	0.96
R1653:Bcan	UTSW	3	87994196	missense	probably damaging	0.99
R1699:Bcan	UTSW	3	87989236	missense	probably damaging	1.00
R1762:Bcan	UTSW	3	87993625	missense	probably benign	0.00
R1802:Bcan	UTSW	3	87993108	missense	possibly damaging	0.58
R1870:Bcan	UTSW	3	87995601	missense	probably damaging	1.00
R1929:Bcan	UTSW	3	87993094	missense	probably damaging	1.00
R2172:Bcan	UTSW	3	87996581	missense	probably damaging	1.00
R2271:Bcan	UTSW	3	87993094	missense	probably damaging	1.00
R4036:Bcan	UTSW	3	87996116	critical splice donor site	probably null
R4363:Bcan	UTSW	3	87997098	missense	probably damaging	1.00
R4491:Bcan	UTSW	3	87990233	nonsense	probably null
R5111:Bcan	UTSW	3	87994207	missense	probably damaging	1.00
R5122:Bcan	UTSW	3	87994207	missense	probably damaging	1.00
R5167:Bcan	UTSW	3	87994207	missense	probably damaging	1.00
R5234:Bcan	UTSW	3	87996146	missense	probably damaging	1.00
R5363:Bcan	UTSW	3	87995487	missense	probably damaging	1.00
R5365:Bcan	UTSW	3	87989235	missense	probably damaging	1.00
R5544:Bcan	UTSW	3	87993053	critical splice donor site	probably null
R5663:Bcan	UTSW	3	87995613	missense	probably damaging	0.98
R6044:Bcan	UTSW	3	87995643	missense	probably damaging	1.00
R6495:Bcan	UTSW	3	87996597	missense	possibly damaging	0.91
R6725:Bcan	UTSW	3	87995484	missense	possibly damaging	0.69
R6764:Bcan	UTSW	3	87988378	missense	probably damaging	1.00
R7000:Bcan	UTSW	3	87988379	nonsense	probably null
R7294:Bcan	UTSW	3	87995524	missense	possibly damaging	0.51
R7338:Bcan	UTSW	3	87994243	missense	probably damaging	1.00
R7942:Bcan	UTSW	3	87993075	missense	probably benign	0.40
R8428:Bcan	UTSW	3	87997098	missense	probably damaging	1.00
R8487:Bcan	UTSW	3	87989209	missense	probably damaging	0.98
R8801:Bcan	UTSW	3	87997275	missense	probably damaging	1.00
R8803:Bcan	UTSW	3	87996692	missense	probably benign	0.21
R8898:Bcan	UTSW	3	87988388	missense	probably benign	0.21
R9372:Bcan	UTSW	3	87988303	missense	probably benign	0.21
X0013:Bcan	UTSW	3	87996159	missense	possibly damaging	0.69
Z1176:Bcan	UTSW	3	87990750	missense	probably damaging	1.00
Z1176:Bcan	UTSW	3	87990755	missense	probably damaging	1.00
Z1176:Bcan	UTSW	3	87995650	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCATGACCCTAGTGACCACTTG -3'
(R):5'- ACATTCCAGGGCCTGTAGAG -3'

Sequencing Primer
(F):5'- CCTAGTGACCACTTGGGCTTG -3'
(R):5'- ATTCCAGGGCCTGTAGAGGTCTAG -3'

Posted On

2021-10-11