Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01528:Ncan'

89627

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 #

IGL01528

Quality Score

Status

Chromosome

Chromosomal Location

70545735-70573494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70562731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 509 (A509E)

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: A509E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: A509E

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,451,190 (GRCm39)		probably benign	Het
Cdc45	A	G	16: 18,630,311 (GRCm39)	F2S	probably damaging	Het
Cdon	A	G	9: 35,381,403 (GRCm39)	R598G	possibly damaging	Het
Cemip2	T	C	19: 21,812,909 (GRCm39)	V1038A	possibly damaging	Het
Dusp22	C	T	13: 30,889,611 (GRCm39)	T64I	probably benign	Het
Gfer	T	A	17: 24,914,903 (GRCm39)	T47S	probably benign	Het
Gfra2	T	C	14: 71,203,738 (GRCm39)	S296P	possibly damaging	Het
Gjb2	G	A	14: 57,338,125 (GRCm39)	L28F	probably damaging	Het
Gm17782	A	G	17: 36,472,682 (GRCm39)		probably benign	Het
Gm2832	T	C	14: 41,003,670 (GRCm39)	V167A	unknown	Het
Gpr155	A	G	2: 73,192,767 (GRCm39)		probably null	Het
Gpr45	A	G	1: 43,072,383 (GRCm39)	H342R	probably benign	Het
Gsdmd	A	T	15: 75,735,354 (GRCm39)	T33S	possibly damaging	Het
Hal	T	A	10: 93,333,455 (GRCm39)	L341Q	probably damaging	Het
Igfbp7	T	G	5: 77,499,179 (GRCm39)	D273A	probably damaging	Het
Kdm2a	T	C	19: 4,393,083 (GRCm39)	D424G	probably benign	Het
Kif13a	C	T	13: 47,018,313 (GRCm39)		probably benign	Het
Krt35	A	T	11: 99,985,420 (GRCm39)	L207Q	probably damaging	Het
Lrp1b	A	T	2: 40,809,194 (GRCm39)	D2572E	probably damaging	Het
Lrp2	A	G	2: 69,322,804 (GRCm39)	V1848A	probably damaging	Het
Myo9a	T	C	9: 59,686,957 (GRCm39)	Y21H	probably damaging	Het
Or2q1	T	C	6: 42,795,208 (GRCm39)	S268P	probably damaging	Het
Pde11a	G	A	2: 76,025,300 (GRCm39)		probably benign	Het
Phf19	G	T	2: 34,787,119 (GRCm39)	D448E	probably damaging	Het
Ptprj	A	T	2: 90,282,488 (GRCm39)	V799D	probably damaging	Het
Rpgrip1	T	A	14: 52,349,634 (GRCm39)	Y7*	probably null	Het
Sema3c	A	G	5: 17,919,413 (GRCm39)	H483R	probably benign	Het
Slc4a11	A	G	2: 130,527,328 (GRCm39)		probably benign	Het
St3gal1	C	A	15: 66,984,466 (GRCm39)	R103L	probably benign	Het
Tet2	A	T	3: 133,186,059 (GRCm39)	V1126E	possibly damaging	Het
Tmem117	A	T	15: 94,992,545 (GRCm39)	I402L	probably benign	Het
Ttc28	T	A	5: 111,249,826 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,702,182 (GRCm39)		probably benign	Het
Vmn1r7	T	A	6: 57,001,532 (GRCm39)	M243L	probably benign	Het
Wnt1	G	T	15: 98,689,714 (GRCm39)	W167L	probably damaging	Het
Zfp553	G	T	7: 126,835,387 (GRCm39)	S314I	probably damaging	Het
Zranb2	T	C	3: 157,250,602 (GRCm39)		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
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

2013-12-03