Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01567:Ncan'

91023

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 #

IGL01567

Quality Score

Status

Chromosome

Chromosomal Location

70545735-70573494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70560984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 661 (M661K)

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: M661K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: M661K

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,071,628 (GRCm39)	S317G	probably benign	Het
Akna	T	C	4: 63,300,087 (GRCm39)	T652A	probably benign	Het
Anxa9	G	A	3: 95,209,743 (GRCm39)		probably benign	Het
Bpifb4	T	A	2: 153,789,198 (GRCm39)		probably benign	Het
Bptf	A	G	11: 106,949,600 (GRCm39)	S2125P	probably damaging	Het
Capns2	C	A	8: 93,628,634 (GRCm39)	H174Q	probably benign	Het
Cd200	A	C	16: 45,215,054 (GRCm39)	L199R	probably damaging	Het
Clasp2	T	C	9: 113,709,164 (GRCm39)	V651A	probably damaging	Het
Cox18	G	A	5: 90,365,447 (GRCm39)	Q251*	probably null	Het
Depdc1a	T	C	3: 159,232,183 (GRCm39)	S645P	probably damaging	Het
Dio3	T	A	12: 110,245,861 (GRCm39)	C66S	possibly damaging	Het
Dock9	A	T	14: 121,890,496 (GRCm39)	L258Q	probably damaging	Het
Ghrhr	A	G	6: 55,361,108 (GRCm39)	D274G	probably damaging	Het
Gm5129	A	G	5: 29,940,862 (GRCm39)		probably benign	Het
Grb7	A	G	11: 98,345,776 (GRCm39)	N518S	probably damaging	Het
Kdm5b	G	A	1: 134,530,278 (GRCm39)	A430T	probably damaging	Het
Map10	C	A	8: 126,398,232 (GRCm39)	Q542K	probably benign	Het
Metap1	T	C	3: 138,168,150 (GRCm39)	T325A	probably damaging	Het
Or2f1b	T	C	6: 42,739,661 (GRCm39)	I225T	probably benign	Het
Or51h5	A	G	7: 102,577,623 (GRCm39)	I263V	probably benign	Het
Otog	T	C	7: 45,926,039 (GRCm39)		probably benign	Het
Pip4k2b	T	C	11: 97,620,387 (GRCm39)	D116G	probably damaging	Het
Rps15	T	A	10: 80,129,643 (GRCm39)	L86Q	probably benign	Het
Sfxn4	G	T	19: 60,842,336 (GRCm39)	T122K	probably damaging	Het
Slc4a3	T	C	1: 75,527,526 (GRCm39)	V165A	probably damaging	Het
Spmip7	A	G	11: 11,465,015 (GRCm39)	H122R	possibly damaging	Het
Synm	A	G	7: 67,384,980 (GRCm39)	V452A	probably damaging	Het
Tdpoz1	T	C	3: 93,578,013 (GRCm39)	H257R	possibly damaging	Het
Tmem26	A	G	10: 68,587,061 (GRCm39)	T170A	probably damaging	Het
Wdfy4	T	G	14: 32,873,618 (GRCm39)	E230D	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
IGL01407:Ncan	APN	8	70,554,607 (GRCm39)	missense	probably benign	0.17
IGL01528:Ncan	APN	8	70,562,731 (GRCm39)	missense	probably benign	0.00
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

2013-12-09