Mutagenetix > Incidental Mutation

Incidental Mutation 'R0938:Bcan'

81226

Institutional Source

Beutler Lab

Gene Symbol

Bcan

Ensembl Gene

ENSMUSG00000004892

Gene Name

brevican

Synonyms

Cspg7

MMRRC Submission

039077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0938 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

87894838-87907537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87900461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 591 (S591P)

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: S591P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088491
Gene: ENSMUSG00000004892
AA Change: S591P

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

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.7%
20x: 88.1%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chfr	T	C	5: 110,311,924 (GRCm39)	L579P	probably damaging	Het
Dab2	C	T	15: 6,464,865 (GRCm39)	T439I	probably benign	Het
Dazap1	T	C	10: 80,116,795 (GRCm39)	S165P	possibly damaging	Het
Dlx2	C	A	2: 71,375,012 (GRCm39)	W284L	possibly damaging	Het
Dync2h1	A	T	9: 7,002,658 (GRCm39)	N3803K	probably benign	Het
Dynlrb2	A	C	8: 117,241,707 (GRCm39)		probably null	Het
Fhl2	A	G	1: 43,180,866 (GRCm39)	I108T	possibly damaging	Het
Fntb	A	G	12: 76,963,214 (GRCm39)	Y399C	probably damaging	Het
Galnt18	T	C	7: 111,119,206 (GRCm39)	I438M	possibly damaging	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Ifi204	A	T	1: 173,579,311 (GRCm39)	N511K	possibly damaging	Het
Klhl1	A	T	14: 96,389,476 (GRCm39)	Y559*	probably null	Het
Mob1b	T	A	5: 88,897,452 (GRCm39)	I120N	probably damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Oosp2	G	A	19: 11,628,904 (GRCm39)	Q66*	probably null	Het
P4ha2	A	G	11: 54,010,148 (GRCm39)	K302E	possibly damaging	Het
Pard6g	C	T	18: 80,123,259 (GRCm39)	R98*	probably null	Het
Pkdrej	G	A	15: 85,702,364 (GRCm39)	P1191S	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Smim29	T	C	17: 27,783,368 (GRCm39)	K43R	possibly damaging	Het
Ubap2	A	C	4: 41,202,304 (GRCm39)	L708R	probably damaging	Het
Zfp638	G	A	6: 83,961,023 (GRCm39)	V1204I	probably benign	Het
Zfp865	G	T	7: 5,034,403 (GRCm39)	C796F	possibly damaging	Het
Zmiz2	A	T	11: 6,347,185 (GRCm39)	M237L	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
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

Predicted Primers

PCR Primer
(F):5'- GGTGGATTAAAGGCCAACGTGTCAG -3'
(R):5'- GAAACAGAGCATTCACTCTCCCAGG -3'

Sequencing Primer
(F):5'- TGTCAGGTGGCCCAGAG -3'
(R):5'- AGCCCAGGCAGTTCTACAG -3'

Posted On

2013-11-07