Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00539:Ncan'

13638

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 #

IGL00539

Quality Score

Status

Chromosome

Chromosomal Location

70545735-70573494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70567921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 64 (P64S)

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: P64S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: P64S

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,985,272 (GRCm39)	D2185E	possibly damaging	Het
Camk2b	A	G	11: 5,922,310 (GRCm39)	S560P	probably damaging	Het
Cdh13	C	A	8: 120,039,245 (GRCm39)	N562K	possibly damaging	Het
Cdhr4	A	G	9: 107,876,744 (GRCm39)	Y771C	probably damaging	Het
Ermap	A	G	4: 119,041,114 (GRCm39)	S299P	probably damaging	Het
Fgd3	A	G	13: 49,429,119 (GRCm39)		probably benign	Het
Fpr-rs4	T	A	17: 18,242,188 (GRCm39)	L65Q	probably damaging	Het
Hsph1	C	T	5: 149,542,254 (GRCm39)	R723H	possibly damaging	Het
Iqcb1	A	G	16: 36,678,873 (GRCm39)	K396E	probably damaging	Het
Kif21a	T	C	15: 90,821,504 (GRCm39)	T1424A	probably damaging	Het
Mpdz	T	C	4: 81,279,588 (GRCm39)	S700G	possibly damaging	Het
Mta3	G	A	17: 84,070,412 (GRCm39)	R39Q	probably benign	Het
Muc4	A	T	16: 32,569,728 (GRCm39)	T263S	possibly damaging	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Pla2g4f	T	C	2: 120,133,219 (GRCm39)	H660R	possibly damaging	Het
Polq	A	G	16: 36,880,931 (GRCm39)	T753A	probably damaging	Het
Ptchd4	C	T	17: 42,627,817 (GRCm39)	Q93*	probably null	Het
Sfpq	T	C	4: 126,917,481 (GRCm39)	V437A	possibly damaging	Het
Slc18b1	G	A	10: 23,700,659 (GRCm39)		probably null	Het
Taf1c	C	T	8: 120,328,067 (GRCm39)	V277I	possibly damaging	Het
Tcf20	T	A	15: 82,736,957 (GRCm39)	Q1498L	probably benign	Het
Tet1	C	A	10: 62,650,276 (GRCm39)	C1644F	probably damaging	Het
Trmt5	T	C	12: 73,331,693 (GRCm39)	E121G	possibly damaging	Het
Wapl	A	G	14: 34,416,965 (GRCm39)	D525G	probably damaging	Het
Ylpm1	A	G	12: 85,075,728 (GRCm39)	T360A	possibly damaging	Het
Zfp292	G	A	4: 34,808,790 (GRCm39)	P1418L	probably damaging	Het

Other mutations in Ncan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06