Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03058:Ncan'

409323

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncan

Ensembl Gene

ENSMUSG00000002341

Gene Name

neurocan

Synonyms

Cspg3, Cspg3-rs, neurocan, Tgfbit

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03058

Quality Score

Status

Chromosome

Chromosomal Location

70093085-70120873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70107932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 795 (S795F)

Ref Sequence

ENSEMBL: ENSMUSP00000002412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002412]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002412
AA Change: S795F

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: S795F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	23	30	N/A	INTRINSIC
IG	43	157	9.63e-6	SMART
LINK	157	254	2.22e-56	SMART
LINK	258	356	4.72e-60	SMART
low complexity region	575	586	N/A	INTRINSIC
low complexity region	602	632	N/A	INTRINSIC
low complexity region	663	677	N/A	INTRINSIC
EGF	963	996	6.5e-5	SMART
EGF_CA	998	1034	9.77e-9	SMART
CLECT	1040	1161	1.97e-41	SMART
CCP	1167	1223	2.53e-12	SMART
low complexity region	1225	1256	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for targeted null mutations are viable and fertile and exhibit normal behavior and brain anatomy; however, mild defects in long term potentiation were noted. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	C	11: 29,824,656	D267G	probably benign	Het
Abcg3	A	G	5: 104,961,246	V395A	probably benign	Het
Adck1	A	T	12: 88,459,130	T443S	probably benign	Het
Axdnd1	G	A	1: 156,376,663	A541V	probably benign	Het
B020011L13Rik	A	G	1: 117,782,969	D35G	possibly damaging	Het
Bmp3	T	G	5: 98,872,094	I125M	probably damaging	Het
Cdc40	T	C	10: 40,849,828	E215G	probably benign	Het
Ces1f	A	G	8: 93,269,972		probably null	Het
Chd8	A	C	14: 52,218,273	V986G	probably damaging	Het
Clca4a	A	T	3: 144,961,834		probably benign	Het
Crhbp	T	A	13: 95,443,798	E91V	probably damaging	Het
Dgkh	T	A	14: 78,627,797	H53L	probably benign	Het
Dnajc1	T	C	2: 18,217,321	D532G	possibly damaging	Het
Dot1l	T	C	10: 80,790,997	S230P	probably benign	Het
Evi5	C	T	5: 107,748,151	V809M	probably damaging	Het
Fbn1	T	A	2: 125,403,200	M256L	probably benign	Het
Fgfr2	C	T	7: 130,182,692	D292N	probably damaging	Het
Fmn1	C	T	2: 113,441,814		probably benign	Het
Gm12394	G	A	4: 42,793,764	L123F	probably damaging	Het
Htatsf1	T	A	X: 57,058,921	D203E	probably damaging	Het
Kcnh1	T	A	1: 192,434,891	L51Q	probably damaging	Het
Lamp5	A	T	2: 136,069,127	H260L	probably benign	Het
Mindy4	T	A	6: 55,308,198	V659D	probably damaging	Het
Mkks	C	A	2: 136,876,170	L397F	probably damaging	Het
Olfr1006	T	C	2: 85,674,681	I157V	probably benign	Het
Olfr159	A	C	4: 43,770,255	F252C	probably damaging	Het
Papolg	T	C	11: 23,895,029	M4V	probably benign	Het
Pdk3	A	T	X: 93,802,286	I143N	probably benign	Het
Polr2a	A	T	11: 69,745,047		probably null	Het
Prc1	C	T	7: 80,301,125	T78I	probably benign	Het
Ret	C	A	6: 118,175,067	D569Y	probably damaging	Het
Samd9l	G	T	6: 3,374,980	N760K	probably damaging	Het
Slc5a12	T	A	2: 110,640,792	S460T	probably benign	Het
Slco1c1	A	G	6: 141,563,187	I573M	probably benign	Het
Steap4	A	G	5: 7,975,664	D75G	probably benign	Het
Tcf20	A	G	15: 82,852,004	F1749L	probably damaging	Het
Thbs2	T	C	17: 14,689,969	T123A	possibly damaging	Het
Tmc3	T	C	7: 83,615,886	S663P	possibly damaging	Het
Vmn2r121	G	T	X: 124,132,921	H180N	probably benign	Het
Vnn1	T	C	10: 23,904,544	F477L	probably benign	Het
Xpnpep2	A	G	X: 48,125,425		probably null	Het
Zfand4	T	C	6: 116,288,077	F168L	probably benign	Het

Other mutations in Ncan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ncan	APN	8	70115271	missense	probably benign	0.24
IGL00924:Ncan	APN	8	70108389	missense	possibly damaging	0.78
IGL01319:Ncan	APN	8	70097562	missense	probably damaging	0.99
IGL01407:Ncan	APN	8	70101957	missense	probably benign	0.17
IGL01528:Ncan	APN	8	70110081	missense	probably benign	0.00
IGL01567:Ncan	APN	8	70108334	missense	probably benign	0.09
IGL01808:Ncan	APN	8	70107440	critical splice donor site	probably null
IGL02543:Ncan	APN	8	70108571	missense	probably benign	0.37
IGL02551:Ncan	APN	8	70102462	missense	probably damaging	1.00
IGL02899:Ncan	APN	8	70115048	missense	possibly damaging	0.95
IGL02940:Ncan	APN	8	70110085	missense	probably benign	0.02
learned	UTSW	8	70098081	nonsense	probably null
sagacious	UTSW	8	70112590	missense	probably damaging	0.99
R0219:Ncan	UTSW	8	70115334	missense	probably benign	0.08
R0538:Ncan	UTSW	8	70108602	missense	possibly damaging	0.86
R0540:Ncan	UTSW	8	70115159	missense	possibly damaging	0.93
R0854:Ncan	UTSW	8	70112552	missense	probably damaging	1.00
R0918:Ncan	UTSW	8	70108389	missense	possibly damaging	0.78
R1344:Ncan	UTSW	8	70108169	missense	probably benign
R1575:Ncan	UTSW	8	70110198	missense	probably benign	0.27
R1739:Ncan	UTSW	8	70108086	missense	probably benign	0.03
R1847:Ncan	UTSW	8	70102454	missense	probably damaging	0.96
R1859:Ncan	UTSW	8	70115348	missense	possibly damaging	0.94
R2320:Ncan	UTSW	8	70108218	missense	probably benign
R2370:Ncan	UTSW	8	70112813	missense	probably benign	0.05
R3407:Ncan	UTSW	8	70112151	missense	probably damaging	1.00
R3408:Ncan	UTSW	8	70112151	missense	probably damaging	1.00
R3961:Ncan	UTSW	8	70110300	missense	probably benign	0.05
R4155:Ncan	UTSW	8	70110077	missense	possibly damaging	0.87
R4156:Ncan	UTSW	8	70110077	missense	possibly damaging	0.87
R4365:Ncan	UTSW	8	70115211	missense	probably damaging	1.00
R4858:Ncan	UTSW	8	70104055	missense	probably benign	0.00
R4925:Ncan	UTSW	8	70109954	missense	probably benign	0.02
R4942:Ncan	UTSW	8	70100294	missense	probably damaging	1.00
R4976:Ncan	UTSW	8	70115025	missense	probably damaging	0.98
R5119:Ncan	UTSW	8	70115025	missense	probably damaging	0.98
R5141:Ncan	UTSW	8	70112837	missense	probably damaging	1.00
R5679:Ncan	UTSW	8	70112626	missense	probably damaging	1.00
R5706:Ncan	UTSW	8	70102017	missense	probably damaging	0.99
R5915:Ncan	UTSW	8	70098081	nonsense	probably null
R6033:Ncan	UTSW	8	70112590	missense	probably damaging	0.99
R6033:Ncan	UTSW	8	70112590	missense	probably damaging	0.99
R6223:Ncan	UTSW	8	70109954	missense	probably benign	0.02
R6390:Ncan	UTSW	8	70115249	missense	probably benign	0.34
R6533:Ncan	UTSW	8	70096357	missense	probably benign	0.01
R6836:Ncan	UTSW	8	70100315	missense	possibly damaging	0.84
R6869:Ncan	UTSW	8	70107907	missense	probably benign	0.08
R7229:Ncan	UTSW	8	70100311	missense	possibly damaging	0.69
R7232:Ncan	UTSW	8	70112088	missense	probably damaging	1.00
R7293:Ncan	UTSW	8	70115211	missense	probably damaging	0.98
R7406:Ncan	UTSW	8	70110099	missense	probably benign	0.00
R7474:Ncan	UTSW	8	70102041	missense	possibly damaging	0.53
R7779:Ncan	UTSW	8	70115011	missense	probably damaging	0.99
R7973:Ncan	UTSW	8	70097575	missense	probably benign	0.00
R8113:Ncan	UTSW	8	70108571	missense	possibly damaging	0.58
R8269:Ncan	UTSW	8	70107680	missense	probably benign	0.01
R8947:Ncan	UTSW	8	70102521	missense	probably damaging	0.98
R9324:Ncan	UTSW	8	70107998	missense	possibly damaging	0.75
R9717:Ncan	UTSW	8	70101978	missense	probably damaging	1.00
R9803:Ncan	UTSW	8	70108101	missense	probably benign	0.06
Z1177:Ncan	UTSW	8	70097472	missense	probably damaging	0.99

Posted On

2016-08-02