Mutagenetix > Incidental Mutations

Incidental Mutation 'R5363:Bcan'

422919

Institutional Source

Beutler Lab

Gene Symbol

Bcan

Ensembl Gene

ENSMUSG00000004892

Gene Name

brevican

Synonyms

Cspg7

MMRRC Submission

042941-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87987531-88000230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87995487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 328 (V328A)

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: V328A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088491
Gene: ENSMUSG00000004892
AA Change: V328A

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	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
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
R8993:Bcan	UTSW	3	87994222	missense	probably benign	0.28
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'- TATGCTGACAGGCACAAGG -3'
(R):5'- AGGAGAACTGTTCCTAGGCG -3'

Sequencing Primer
(F):5'- CTGACAGGCACAAGGATTGAG -3'
(R):5'- TCCCAGCAAGCTGACATGG -3'

Posted On

2016-08-04