Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01407:Ncan'

79829

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 #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

70093085-70120873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70101957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1070 (R1070H)

Ref Sequence

ENSEMBL: ENSMUSP00000002412 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002412
AA Change: R1070H

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: R1070H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184696

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,245,944	D1140V	probably damaging	Het
Ak1	G	T	2: 32,633,495		probably benign	Het
Ano1	A	T	7: 144,637,111	L411H	probably benign	Het
Atad2	A	T	15: 58,104,525	N569K	probably benign	Het
Bst2	C	A	8: 71,537,186	R81L	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Chrna5	C	T	9: 55,004,399	T57M	possibly damaging	Het
Cp	A	T	3: 19,977,205	D602V	possibly damaging	Het
Drd2	T	C	9: 49,400,815	I156T	probably damaging	Het
Elp4	G	A	2: 105,792,308	R349W	probably damaging	Het
Eml6	G	A	11: 29,755,021	R1508*	probably null	Het
Etl4	T	C	2: 20,743,856	L335S	probably damaging	Het
Fat3	A	T	9: 16,378,023	I68K	probably benign	Het
Fyco1	G	T	9: 123,828,879	A744D	probably damaging	Het
Gm22165	G	T	3: 64,105,465		probably benign	Het
Gse1	T	C	8: 120,553,587	M1T	probably null	Het
Hs3st5	A	T	10: 36,833,408	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,062,905	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,407	S93I	probably benign	Het
Itgb1	T	C	8: 128,722,834	V578A	probably benign	Het
Klf12	A	T	14: 100,109,858	N12K	possibly damaging	Het
Krt40	C	T	11: 99,541,219	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,937,227	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,947,903	Y213C	probably damaging	Het
Mitf	C	A	6: 98,017,931	T277K	possibly damaging	Het
Nr4a3	A	G	4: 48,083,201	E578G	probably benign	Het
Patj	A	G	4: 98,413,050	T191A	possibly damaging	Het
Pign	A	G	1: 105,589,302	V533A	probably benign	Het
Smad5	G	A	13: 56,735,817	V339I	probably benign	Het
Spem2	T	A	11: 69,817,239	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,364,722	S605A	probably damaging	Het
Treml4	T	A	17: 48,264,849	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,416,503	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,329,867	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,042,166	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,584,187	K10I	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
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
IGL03058:Ncan	APN	8	70107932	missense	possibly damaging	0.83
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

2013-11-05