Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02940:Ncan'

364454

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 #

IGL02940

Quality Score

Status

Chromosome

Chromosomal Location

70545735-70573494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70562735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 508 (V508I)

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: V508I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: V508I

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	T	A	8: 95,760,084 (GRCm39)	V101D	possibly damaging	Het
Brca1	T	C	11: 101,380,738 (GRCm39)	D1765G	probably benign	Het
Cadps2	T	C	6: 23,496,808 (GRCm39)	K450R	probably benign	Het
Cc2d2a	A	T	5: 43,885,636 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,058,321 (GRCm39)	Y163C	probably damaging	Het
Drc7	T	A	8: 95,800,925 (GRCm39)	I649N	probably damaging	Het
Dst	G	A	1: 34,328,668 (GRCm39)	A7097T	probably benign	Het
Fbxo46	A	G	7: 18,869,537 (GRCm39)	H52R	probably benign	Het
Gm9944	T	C	4: 144,179,709 (GRCm39)		probably benign	Het
Lsm14a	G	T	7: 34,070,596 (GRCm39)	S100*	probably null	Het
Mrc2	C	T	11: 105,231,997 (GRCm39)	R850C	probably damaging	Het
Musk	A	G	4: 58,373,364 (GRCm39)	D763G	probably damaging	Het
Or4k35	A	T	2: 111,100,073 (GRCm39)	L213Q	probably damaging	Het
Pgls	C	T	8: 72,046,741 (GRCm39)	S18L	probably damaging	Het
Phf20l1	A	G	15: 66,467,000 (GRCm39)	T98A	probably damaging	Het
Ppp1r36dn	A	C	12: 76,497,944 (GRCm39)		noncoding transcript	Het
Prdm13	T	A	4: 21,683,421 (GRCm39)	K180*	probably null	Het
Rai1	T	C	11: 60,077,844 (GRCm39)	V636A	probably benign	Het
Setd5	T	C	6: 113,091,899 (GRCm39)	F240S	possibly damaging	Het
Slco1a5	A	G	6: 142,187,731 (GRCm39)	L536P	probably damaging	Het
Stk39	C	T	2: 68,051,243 (GRCm39)		probably null	Het
Tenm2	T	C	11: 35,932,471 (GRCm39)	T1707A	probably damaging	Het
Tlr2	A	T	3: 83,743,781 (GRCm39)	D767E	probably benign	Het
Tlr7	C	T	X: 166,090,830 (GRCm39)	V219I	probably benign	Het
Tmprss7	A	G	16: 45,476,818 (GRCm39)	S815P	probably damaging	Het
Trav12-1	T	A	14: 53,776,017 (GRCm39)	W57R	probably damaging	Het
Uxt	T	C	X: 20,826,025 (GRCm39)	E66G	possibly damaging	Het
Vmn2r45	A	T	7: 8,475,369 (GRCm39)	M553K	probably damaging	Het
Vmn2r67	A	G	7: 84,785,951 (GRCm39)	W685R	probably benign	Het
Vstm5	A	C	9: 15,168,962 (GRCm39)	D144A	probably damaging	Het
Zfp592	A	G	7: 80,674,575 (GRCm39)	H513R	probably damaging	Het
Zfp830	T	A	11: 82,656,295 (GRCm39)		probably benign	Het
Zfp990	A	G	4: 145,261,492 (GRCm39)		probably null	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
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
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

2015-12-18