Mutagenetix > Incidental Mutation

Incidental Mutation 'R8113:Ncan'

631009

Institutional Source

Beutler Lab

Gene Symbol

Ncan

Ensembl Gene

ENSMUSG00000002341

Gene Name

neurocan

Synonyms

Cspg3, Cspg3-rs, neurocan, Tgfbit

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70093085-70120873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70108571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 582 (D582V)

Ref Sequence

ENSEMBL: ENSMUSP00000002412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002412]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002412
AA Change: D582V

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: D582V

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (72/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 88,321,803	S625P	probably damaging	Het
Agpat1	T	C	17: 34,611,612	V170A	probably damaging	Het
Alg9	C	T	9: 50,808,780	Q519*	probably null	Het
Apol8	C	T	15: 77,750,136	R80H	probably benign	Het
Arhgap25	G	T	6: 87,488,305	S118*	probably null	Het
Arhgap30	T	A	1: 171,397,518	Y47*	probably null	Het
Arhgap42	C	T	9: 9,011,433	D451N	probably damaging	Het
Cabp2	T	A	19: 4,085,582	F91I	probably damaging	Het
Ccdc30	T	C	4: 119,373,746	E108G	probably benign	Het
Cfap99	T	C	5: 34,301,419	S53P	probably damaging	Het
Clec5a	C	T	6: 40,579,427	R135H	possibly damaging	Het
Cops8	T	G	1: 90,603,603	D18E	probably benign	Het
Cped1	A	T	6: 22,233,481	M779L	possibly damaging	Het
Cyp4x1	G	A	4: 115,110,066	H438Y	probably damaging	Het
Disc1	A	T	8: 125,088,275	T293S	probably benign	Het
Ercc1	T	C	7: 19,350,177	L113S	probably damaging	Het
Ermp1	G	T	19: 29,615,796	N765K	probably benign	Het
Fam83c	A	G	2: 155,834,820	I10T	probably benign	Het
Farp1	T	C	14: 121,275,596	V788A	probably benign	Het
Fbn1	C	G	2: 125,477,569	G92R	probably damaging	Het
Fsd1	T	A	17: 55,995,881	M328K	probably benign	Het
Fzd3	C	A	14: 65,202,813	S636I	probably benign	Het
Gapvd1	A	G	2: 34,704,318	S886P	probably damaging	Het
Gatad2b	T	A	3: 90,341,722	D22E	probably benign	Het
Gm10436	T	C	12: 88,177,080	Y329C	probably benign	Het
Gm30302	G	A	13: 49,786,072	R721C	probably benign	Het
Gm7168	A	T	17: 13,948,976	K202*	probably null	Het
Gmps	T	C	3: 63,980,269	I54T	probably damaging	Het
Gp6	A	G	7: 4,394,115	I107T	probably benign	Het
Gpat2	T	C	2: 127,431,347	V217A	possibly damaging	Het
Hdlbp	T	A	1: 93,417,195	I863F	probably damaging	Het
Hmcn1	A	C	1: 150,749,090	I1021M	possibly damaging	Het
Igkv6-14	C	T	6: 70,435,103	A66T	probably benign	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Iqch	A	G	9: 63,454,573	I925T	probably benign	Het
Kcnt1	A	G	2: 25,901,211	E522G	possibly damaging	Het
Kremen2	C	G	17: 23,743,802	E103D	probably damaging	Het
Lig4	G	T	8: 9,973,485	N98K	probably benign	Het
Lrrc3b	T	G	14: 15,358,232	I125L	probably benign	Het
Lrrc4	T	C	6: 28,829,903	D148G	probably damaging	Het
Lrsam1	A	G	2: 32,947,889	Y218H	possibly damaging	Het
Mmrn2	G	A	14: 34,397,636	V191I	probably benign	Het
Nadk	T	A	4: 155,570,670		probably null	Het
Napb	C	A	2: 148,709,431	A61S	possibly damaging	Het
Ncl	T	C	1: 86,356,642	D244G	possibly damaging	Het
Nlrp14	A	G	7: 107,192,508	N800S	possibly damaging	Het
Nlrp9b	C	T	7: 20,019,335	T55M	probably benign	Het
Nobox	G	A	6: 43,306,017	T228I	probably benign	Het
Npffr1	C	A	10: 61,613,971	P8H	possibly damaging	Het
Nrg2	T	C	18: 36,021,103	Y587C	probably damaging	Het
Nsd1	T	G	13: 55,245,621	V448G	probably benign	Het
Olfr1016	A	G	2: 85,799,667	L201P	probably damaging	Het
Olfr228	T	G	2: 86,483,068	I225L	probably damaging	Het
Olfr263	T	A	13: 21,133,201	V142D	probably benign	Het
Olfr513	G	T	7: 108,755,231	C125F	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Ppp5c	T	C	7: 17,009,007	T229A	probably benign	Het
Prr5	C	T	15: 84,693,792	R101C	probably damaging	Het
Psg22	T	C	7: 18,723,062	M290T	probably benign	Het
Pzp	C	T	6: 128,513,731		probably null	Het
Rapgef6	T	C	11: 54,625,958	V347A	probably benign	Het
Rttn	A	T	18: 89,010,916	H586L	probably damaging	Het
Sema3f	A	T	9: 107,688,076	I259K	possibly damaging	Het
Sgpp1	A	T	12: 75,716,600	L269Q	probably damaging	Het
Slc22a8	A	C	19: 8,605,539	I195L	probably benign	Het
Slc35a5	T	C	16: 45,142,188	T425A	unknown	Het
Stard13	G	A	5: 151,063,505	T180I	probably damaging	Het
Stard9	G	A	2: 120,704,430	G3723S	probably benign	Het
Svil	A	T	18: 5,062,385	T902S	probably damaging	Het
Tnfaip8l3	T	A	9: 54,027,137	R185W	probably damaging	Het
Ttn	A	T	2: 76,760,049	D21105E	probably benign	Het
Vmn2r109	T	A	17: 20,554,467	M209L	probably benign	Het
Vmn2r125	A	G	4: 156,351,347	H340R	probably damaging	Het
Zfp946	T	C	17: 22,455,500	C412R	probably damaging	Het

Other mutations in Ncan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ncan	APN	8	70115271	missense	probably benign	0.24
IGL00924:Ncan	APN	8	70108389	missense	possibly damaging	0.78
IGL01319:Ncan	APN	8	70097562	missense	probably damaging	0.99
IGL01407:Ncan	APN	8	70101957	missense	probably benign	0.17
IGL01528:Ncan	APN	8	70110081	missense	probably benign	0.00
IGL01567:Ncan	APN	8	70108334	missense	probably benign	0.09
IGL01808:Ncan	APN	8	70107440	critical splice donor site	probably null
IGL02543:Ncan	APN	8	70108571	missense	probably benign	0.37
IGL02551:Ncan	APN	8	70102462	missense	probably damaging	1.00
IGL02899:Ncan	APN	8	70115048	missense	possibly damaging	0.95
IGL02940:Ncan	APN	8	70110085	missense	probably benign	0.02
IGL03058:Ncan	APN	8	70107932	missense	possibly damaging	0.83
learned	UTSW	8	70098081	nonsense	probably null
sagacious	UTSW	8	70112590	missense	probably damaging	0.99
R0219:Ncan	UTSW	8	70115334	missense	probably benign	0.08
R0538:Ncan	UTSW	8	70108602	missense	possibly damaging	0.86
R0540:Ncan	UTSW	8	70115159	missense	possibly damaging	0.93
R0854:Ncan	UTSW	8	70112552	missense	probably damaging	1.00
R0918:Ncan	UTSW	8	70108389	missense	possibly damaging	0.78
R1344:Ncan	UTSW	8	70108169	missense	probably benign
R1575:Ncan	UTSW	8	70110198	missense	probably benign	0.27
R1739:Ncan	UTSW	8	70108086	missense	probably benign	0.03
R1847:Ncan	UTSW	8	70102454	missense	probably damaging	0.96
R1859:Ncan	UTSW	8	70115348	missense	possibly damaging	0.94
R2320:Ncan	UTSW	8	70108218	missense	probably benign
R2370:Ncan	UTSW	8	70112813	missense	probably benign	0.05
R3407:Ncan	UTSW	8	70112151	missense	probably damaging	1.00
R3408:Ncan	UTSW	8	70112151	missense	probably damaging	1.00
R3961:Ncan	UTSW	8	70110300	missense	probably benign	0.05
R4155:Ncan	UTSW	8	70110077	missense	possibly damaging	0.87
R4156:Ncan	UTSW	8	70110077	missense	possibly damaging	0.87
R4365:Ncan	UTSW	8	70115211	missense	probably damaging	1.00
R4858:Ncan	UTSW	8	70104055	missense	probably benign	0.00
R4925:Ncan	UTSW	8	70109954	missense	probably benign	0.02
R4942:Ncan	UTSW	8	70100294	missense	probably damaging	1.00
R4976:Ncan	UTSW	8	70115025	missense	probably damaging	0.98
R5119:Ncan	UTSW	8	70115025	missense	probably damaging	0.98
R5141:Ncan	UTSW	8	70112837	missense	probably damaging	1.00
R5679:Ncan	UTSW	8	70112626	missense	probably damaging	1.00
R5706:Ncan	UTSW	8	70102017	missense	probably damaging	0.99
R5915:Ncan	UTSW	8	70098081	nonsense	probably null
R6033:Ncan	UTSW	8	70112590	missense	probably damaging	0.99
R6033:Ncan	UTSW	8	70112590	missense	probably damaging	0.99
R6223:Ncan	UTSW	8	70109954	missense	probably benign	0.02
R6390:Ncan	UTSW	8	70115249	missense	probably benign	0.34
R6533:Ncan	UTSW	8	70096357	missense	probably benign	0.01
R6836:Ncan	UTSW	8	70100315	missense	possibly damaging	0.84
R6869:Ncan	UTSW	8	70107907	missense	probably benign	0.08
R7229:Ncan	UTSW	8	70100311	missense	possibly damaging	0.69
R7232:Ncan	UTSW	8	70112088	missense	probably damaging	1.00
R7293:Ncan	UTSW	8	70115211	missense	probably damaging	0.98
R7406:Ncan	UTSW	8	70110099	missense	probably benign	0.00
R7474:Ncan	UTSW	8	70102041	missense	possibly damaging	0.53
R7779:Ncan	UTSW	8	70115011	missense	probably damaging	0.99
R7973:Ncan	UTSW	8	70097575	missense	probably benign	0.00
R8269:Ncan	UTSW	8	70107680	missense	probably benign	0.01
R8947:Ncan	UTSW	8	70102521	missense	probably damaging	0.98
R9324:Ncan	UTSW	8	70107998	missense	possibly damaging	0.75
R9717:Ncan	UTSW	8	70101978	missense	probably damaging	1.00
R9803:Ncan	UTSW	8	70108101	missense	probably benign	0.06
Z1177:Ncan	UTSW	8	70097472	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGAAGCATGGCTACAATGG -3'
(R):5'- TGGAGCCTGTATCTCTATGAAGTAC -3'

Sequencing Primer
(F):5'- CATGGCTACAATGGGGAAGTC -3'
(R):5'- TCTCTATGAAGTACAGACTGGCC -3'

Posted On

2020-06-30