Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Ncan'

480511

Institutional Source

Beutler Lab

Gene Symbol

Ncan

Ensembl Gene

ENSMUSG00000002341

Gene Name

neurocan

Synonyms

Cspg3, Cspg3-rs, neurocan, Tgfbit

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70093085-70120873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70112590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 229 (D229G)

Ref Sequence

ENSEMBL: ENSMUSP00000002412 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002412
AA Change: D229G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: D229G

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

Meta Mutation Damage Score

0.5098

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.9%
20x: 89.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,372	E72G	probably damaging	Het
Adgrl1	T	A	8: 83,918,922	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alas1	A	G	9: 106,241,204	S240P	probably damaging	Het
Alox12e	C	T	11: 70,316,013	G616D	probably benign	Het
Arhgap8	A	G	15: 84,741,925	E67G	probably damaging	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,285,628		probably null	Het
Cmtm8	T	C	9: 114,796,073	T97A	probably damaging	Het
Cnmd	T	C	14: 79,661,505	S36G	probably benign	Het
Dnah3	A	C	7: 120,071,647	N609K	probably benign	Het
Dph1	C	T	11: 75,191,197		probably benign	Het
Drosha	G	A	15: 12,925,999	A1225T	probably benign	Het
Eid3	T	A	10: 82,867,653	I316K	probably damaging	Het
Erich6	A	G	3: 58,623,201	L449S	probably benign	Het
Fhod1	T	C	8: 105,336,434		probably benign	Het
Glra1	A	G	11: 55,527,419	Y250H	probably damaging	Het
Gm6768	A	G	12: 119,261,740		noncoding transcript	Het
Hivep1	A	G	13: 42,157,107	E941G	probably benign	Het
Homer2	A	C	7: 81,618,679	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799		probably null	Het
Ifna12	T	C	4: 88,602,917	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,658,209	Y79C	probably damaging	Het
Incenp	C	T	19: 9,872,697	V871I	probably damaging	Het
Jaml	G	A	9: 45,088,710	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,194	C110Y	probably damaging	Het
Manba	T	C	3: 135,549,261	V460A	probably benign	Het
Myrfl	A	T	10: 116,849,101	C125S	probably benign	Het
Nlrp10	A	T	7: 108,924,577	D565E	probably benign	Het
Npas2	T	C	1: 39,338,180	V541A	probably damaging	Het
Nsg2	G	A	11: 32,055,058	V87M	possibly damaging	Het
Olfr1040	A	T	2: 86,146,269	V155E	probably damaging	Het
Prkd2	C	T	7: 16,865,714	R701C	probably damaging	Het
Prss36	T	C	7: 127,934,567	R22G	probably benign	Het
Psmd1	T	C	1: 86,137,095	Y950H	probably damaging	Het
Slc45a4	G	A	15: 73,581,976	A716V	probably damaging	Het
Slc46a1	T	C	11: 78,466,007		probably null	Het
Slc6a5	T	C	7: 49,959,351	I768T	probably benign	Het
Slco6c1	C	T	1: 97,081,316		probably null	Het
Taar2	A	T	10: 23,940,976	H138L	probably benign	Het
Taf2	A	C	15: 55,058,901	L330R	probably damaging	Het
Tgm5	T	C	2: 121,070,729		probably null	Het
Tmed4	A	T	11: 6,274,491	Y56*	probably null	Het
Tmem156	A	T	5: 65,075,621	F135L	probably benign	Het
Ttll6	T	C	11: 96,134,887	S65P	probably damaging	Het
Ttn	C	T	2: 76,726,827	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,470,224		probably null	Het
Unc80	A	T	1: 66,473,260	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,737,929	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,368,599	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,464,401	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,329,137	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,626,726	S481P	probably benign	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
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
R8113:Ncan	UTSW	8	70108571	missense	possibly damaging	0.58
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

Posted On

2017-06-26