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-rs, Tgfbit, Cspg3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

70545735-70573494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70554607 bp (GRCm39)

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: 69,076,288 (GRCm39)	D1140V	probably damaging	Het
Ak1	G	T	2: 32,523,507 (GRCm39)		probably benign	Het
Ano1	A	T	7: 144,190,848 (GRCm39)	L411H	probably benign	Het
Atad2	A	T	15: 57,967,921 (GRCm39)	N569K	probably benign	Het
Bst2	C	A	8: 71,989,830 (GRCm39)	R81L	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Chrna5	C	T	9: 54,911,683 (GRCm39)	T57M	possibly damaging	Het
Cp	A	T	3: 20,031,369 (GRCm39)	D602V	possibly damaging	Het
Drd2	T	C	9: 49,312,115 (GRCm39)	I156T	probably damaging	Het
Elp4	G	A	2: 105,622,653 (GRCm39)	R349W	probably damaging	Het
Eml6	G	A	11: 29,705,021 (GRCm39)	R1508*	probably null	Het
Etl4	T	C	2: 20,748,667 (GRCm39)	L335S	probably damaging	Het
Fat3	A	T	9: 16,289,319 (GRCm39)	I68K	probably benign	Het
Fyco1	G	T	9: 123,657,944 (GRCm39)	A744D	probably damaging	Het
Gm22165	G	T	3: 64,012,886 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,280,326 (GRCm39)	M1T	probably null	Het
Hs3st5	A	T	10: 36,709,404 (GRCm39)	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,210,719 (GRCm39)	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,406 (GRCm39)	S93I	probably benign	Het
Itgb1	T	C	8: 129,449,315 (GRCm39)	V578A	probably benign	Het
Klf12	A	T	14: 100,347,294 (GRCm39)	N12K	possibly damaging	Het
Krt40	C	T	11: 99,432,045 (GRCm39)	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,864,965 (GRCm39)	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,837,915 (GRCm39)	Y213C	probably damaging	Het
Mitf	C	A	6: 97,994,892 (GRCm39)	T277K	possibly damaging	Het
Nr4a3	A	G	4: 48,083,201 (GRCm39)	E578G	probably benign	Het
Patj	A	G	4: 98,301,287 (GRCm39)	T191A	possibly damaging	Het
Pign	A	G	1: 105,517,027 (GRCm39)	V533A	probably benign	Het
Smad5	G	A	13: 56,883,630 (GRCm39)	V339I	probably benign	Het
Spem2	T	A	11: 69,708,065 (GRCm39)	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,193,790 (GRCm39)	S605A	probably damaging	Het
Treml4	T	A	17: 48,571,877 (GRCm39)	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,924 (GRCm39)	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,306,826 (GRCm39)	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,190,230 (GRCm39)	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,233,611 (GRCm39)	K10I	probably benign	Het

Other mutations in Ncan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ncan	APN	8	70,567,921 (GRCm39)	missense	probably benign	0.24
IGL00924:Ncan	APN	8	70,561,039 (GRCm39)	missense	possibly damaging	0.78
IGL01319:Ncan	APN	8	70,550,212 (GRCm39)	missense	probably damaging	0.99
IGL01528:Ncan	APN	8	70,562,731 (GRCm39)	missense	probably benign	0.00
IGL01567:Ncan	APN	8	70,560,984 (GRCm39)	missense	probably benign	0.09
IGL01808:Ncan	APN	8	70,560,090 (GRCm39)	critical splice donor site	probably null
IGL02543:Ncan	APN	8	70,561,221 (GRCm39)	missense	probably benign	0.37
IGL02551:Ncan	APN	8	70,555,112 (GRCm39)	missense	probably damaging	1.00
IGL02899:Ncan	APN	8	70,567,698 (GRCm39)	missense	possibly damaging	0.95
IGL02940:Ncan	APN	8	70,562,735 (GRCm39)	missense	probably benign	0.02
IGL03058:Ncan	APN	8	70,560,582 (GRCm39)	missense	possibly damaging	0.83
learned	UTSW	8	70,550,731 (GRCm39)	nonsense	probably null
sagacious	UTSW	8	70,565,240 (GRCm39)	missense	probably damaging	0.99
R0219:Ncan	UTSW	8	70,567,984 (GRCm39)	missense	probably benign	0.08
R0538:Ncan	UTSW	8	70,561,252 (GRCm39)	missense	possibly damaging	0.86
R0540:Ncan	UTSW	8	70,567,809 (GRCm39)	missense	possibly damaging	0.93
R0854:Ncan	UTSW	8	70,565,202 (GRCm39)	missense	probably damaging	1.00
R0918:Ncan	UTSW	8	70,561,039 (GRCm39)	missense	possibly damaging	0.78
R1344:Ncan	UTSW	8	70,560,819 (GRCm39)	missense	probably benign
R1575:Ncan	UTSW	8	70,562,848 (GRCm39)	missense	probably benign	0.27
R1739:Ncan	UTSW	8	70,560,736 (GRCm39)	missense	probably benign	0.03
R1847:Ncan	UTSW	8	70,555,104 (GRCm39)	missense	probably damaging	0.96
R1859:Ncan	UTSW	8	70,567,998 (GRCm39)	missense	possibly damaging	0.94
R2320:Ncan	UTSW	8	70,560,868 (GRCm39)	missense	probably benign
R2370:Ncan	UTSW	8	70,565,463 (GRCm39)	missense	probably benign	0.05
R3407:Ncan	UTSW	8	70,564,801 (GRCm39)	missense	probably damaging	1.00
R3408:Ncan	UTSW	8	70,564,801 (GRCm39)	missense	probably damaging	1.00
R3961:Ncan	UTSW	8	70,562,950 (GRCm39)	missense	probably benign	0.05
R4155:Ncan	UTSW	8	70,562,727 (GRCm39)	missense	possibly damaging	0.87
R4156:Ncan	UTSW	8	70,562,727 (GRCm39)	missense	possibly damaging	0.87
R4365:Ncan	UTSW	8	70,567,861 (GRCm39)	missense	probably damaging	1.00
R4858:Ncan	UTSW	8	70,556,705 (GRCm39)	missense	probably benign	0.00
R4925:Ncan	UTSW	8	70,562,604 (GRCm39)	missense	probably benign	0.02
R4942:Ncan	UTSW	8	70,552,944 (GRCm39)	missense	probably damaging	1.00
R4976:Ncan	UTSW	8	70,567,675 (GRCm39)	missense	probably damaging	0.98
R5119:Ncan	UTSW	8	70,567,675 (GRCm39)	missense	probably damaging	0.98
R5141:Ncan	UTSW	8	70,565,487 (GRCm39)	missense	probably damaging	1.00
R5679:Ncan	UTSW	8	70,565,276 (GRCm39)	missense	probably damaging	1.00
R5706:Ncan	UTSW	8	70,554,667 (GRCm39)	missense	probably damaging	0.99
R5915:Ncan	UTSW	8	70,550,731 (GRCm39)	nonsense	probably null
R6033:Ncan	UTSW	8	70,565,240 (GRCm39)	missense	probably damaging	0.99
R6033:Ncan	UTSW	8	70,565,240 (GRCm39)	missense	probably damaging	0.99
R6223:Ncan	UTSW	8	70,562,604 (GRCm39)	missense	probably benign	0.02
R6390:Ncan	UTSW	8	70,567,899 (GRCm39)	missense	probably benign	0.34
R6533:Ncan	UTSW	8	70,549,007 (GRCm39)	missense	probably benign	0.01
R6836:Ncan	UTSW	8	70,552,965 (GRCm39)	missense	possibly damaging	0.84
R6869:Ncan	UTSW	8	70,560,557 (GRCm39)	missense	probably benign	0.08
R7229:Ncan	UTSW	8	70,552,961 (GRCm39)	missense	possibly damaging	0.69
R7232:Ncan	UTSW	8	70,564,738 (GRCm39)	missense	probably damaging	1.00
R7293:Ncan	UTSW	8	70,567,861 (GRCm39)	missense	probably damaging	0.98
R7406:Ncan	UTSW	8	70,562,749 (GRCm39)	missense	probably benign	0.00
R7474:Ncan	UTSW	8	70,554,691 (GRCm39)	missense	possibly damaging	0.53
R7779:Ncan	UTSW	8	70,567,661 (GRCm39)	missense	probably damaging	0.99
R7973:Ncan	UTSW	8	70,550,225 (GRCm39)	missense	probably benign	0.00
R8113:Ncan	UTSW	8	70,561,221 (GRCm39)	missense	possibly damaging	0.58
R8269:Ncan	UTSW	8	70,560,330 (GRCm39)	missense	probably benign	0.01
R8947:Ncan	UTSW	8	70,555,171 (GRCm39)	missense	probably damaging	0.98
R9324:Ncan	UTSW	8	70,560,648 (GRCm39)	missense	possibly damaging	0.75
R9717:Ncan	UTSW	8	70,554,628 (GRCm39)	missense	probably damaging	1.00
R9803:Ncan	UTSW	8	70,560,751 (GRCm39)	missense	probably benign	0.06
Z1177:Ncan	UTSW	8	70,550,122 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-11-05