Mutagenetix > Incidental Mutation

Incidental Mutation 'R7779:Ncan'

599086

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 #

R7779 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70093085-70120873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70115011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 150 (D150E)

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: D150E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: D150E

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

0.2583

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,225,320	V563E	probably damaging	Het
Adra1d	A	G	2: 131,561,885	V95A	probably damaging	Het
Ak7	A	C	12: 105,742,350	I355L	probably benign	Het
Ank1	G	A	8: 23,096,747		probably null	Het
Apol7c	A	T	15: 77,525,746	H333Q	probably damaging	Het
Arfgef3	T	C	10: 18,595,023	M1665V	probably damaging	Het
Arid5b	A	G	10: 68,096,776	Y1099H	probably damaging	Het
Atp8b1	A	G	18: 64,541,382	S943P	probably damaging	Het
BC005537	C	T	13: 24,803,399	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bco1	A	G	8: 117,117,396	Y283C	probably damaging	Het
Brd4	A	T	17: 32,212,936	D652E	probably benign	Het
Cacna1s	G	A	1: 136,119,029	A1799T	probably damaging	Het
Camsap3	A	G	8: 3,597,887	Y65C	probably damaging	Het
Capn1	T	C	19: 5,994,086	K535E	probably benign	Het
Cbl	A	G	9: 44,159,096	S480P	probably benign	Het
Cfap99	A	C	5: 34,311,664	N294T	probably benign	Het
Defa24	A	C	8: 21,735,339	S82R	probably benign	Het
Dnaic2	T	C	11: 114,754,409	F557L	possibly damaging	Het
Dnhd1	T	A	7: 105,677,915	H690Q	probably benign	Het
Dock2	A	G	11: 34,714,455	V279A	probably benign	Het
Dst	T	A	1: 34,194,597	V3462E	probably damaging	Het
E2f3	T	G	13: 29,918,615	H221P	probably damaging	Het
Eif2b4	A	T	5: 31,190,654	I238N	probably damaging	Het
Eno4	T	C	19: 58,968,543	S530P	probably benign	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Etl4	C	T	2: 20,709,477	T129I	probably damaging	Het
Extl1	A	G	4: 134,357,703	F652S	probably damaging	Het
Extl1	T	C	4: 134,360,597	K449E	probably benign	Het
F13b	T	A	1: 139,516,386	V486E	probably benign	Het
Fbln2	T	A	6: 91,233,194	L40Q	probably damaging	Het
Glp2r	C	T	11: 67,709,783	W413*	probably null	Het
Grin2b	A	T	6: 135,778,794	Y507*	probably null	Het
H2-M11	G	T	17: 36,548,806	L230F	probably benign	Het
Il1f6	T	C	2: 24,216,601	Y66H	probably damaging	Het
Itpr1	A	G	6: 108,523,348	E2634G	possibly damaging	Het
Itpr3	A	T	17: 27,096,063	Y728F	probably damaging	Het
Jak1	C	T	4: 101,160,142	E764K	probably benign	Het
Jak3	G	T	8: 71,687,288	R1045L	probably benign	Het
Jam2	T	C	16: 84,809,383	I95T	probably damaging	Het
Kdf1	T	C	4: 133,528,485	V171A	probably damaging	Het
Lactbl1	A	T	4: 136,630,996	K93*	probably null	Het
Lcn6	T	C	2: 25,680,793	V131A	probably benign	Het
Lpar5	T	A	6: 125,082,244	D309E	probably damaging	Het
Lrfn4	T	C	19: 4,613,687	E273G	probably damaging	Het
Lta4h	C	T	10: 93,474,949	T447I	probably benign	Het
Lyst	A	G	13: 13,634,543	E266G	probably damaging	Het
Mab21l1	A	T	3: 55,783,375	I128F	possibly damaging	Het
Mrgprb4	T	G	7: 48,199,147	N11T	probably benign	Het
Mroh6	G	A	15: 75,888,656	T23I	possibly damaging	Het
Myo1f	T	C	17: 33,578,273	I143T	probably benign	Het
Myof	C	T	19: 37,939,390	D1092N	probably damaging	Het
Olfr1392	T	A	11: 49,294,221	L300Q	probably damaging	Het
Olfr412	T	A	11: 74,364,945	I92N	probably damaging	Het
Olfr794	A	T	10: 129,571,311	I219F	probably damaging	Het
Pcm1	A	G	8: 41,329,024	Y1948C	probably damaging	Het
Pcsk6	A	T	7: 66,025,404	T669S	probably benign	Het
Pdlim5	A	C	3: 142,242,686	N613K	probably benign	Het
Pdzk1	T	A	3: 96,857,273	V291D	probably damaging	Het
Plbd2	T	C	5: 120,487,678	Q408R	probably damaging	Het
Ppp1r37	C	A	7: 19,532,787	A392S	possibly damaging	Het
Proser2	T	A	2: 6,103,067		probably null	Het
Psmd12	T	C	11: 107,497,579	V406A	probably benign	Het
Rab3gap2	T	C	1: 185,259,444	V709A	probably damaging	Het
Radil	T	C	5: 142,487,565	E787G	probably benign	Het
Rai14	A	C	15: 10,593,026	D177E	probably damaging	Het
Rbms2	G	A	10: 128,143,446	T166I	probably damaging	Het
Rrh	C	T	3: 129,815,320	C115Y	probably benign	Het
Slc1a6	C	T	10: 78,795,955	T205I	probably damaging	Het
Sost	T	C	11: 101,966,849	E42G	possibly damaging	Het
Spcs3	T	A	8: 54,529,770	I46F	possibly damaging	Het
Spg11	A	G	2: 122,070,939	S1507P	probably damaging	Het
Sprtn	C	T	8: 124,898,243	P29L	possibly damaging	Het
Sptan1	C	T	2: 30,021,307	T1886I	probably damaging	Het
Strn4	T	C	7: 16,831,492	F394S	probably damaging	Het
Syt14	A	T	1: 192,984,443	M51K	unknown	Het
Terb2	A	G	2: 122,186,494	K32R	probably benign	Het
Tex15	G	A	8: 33,575,281	G1580R	probably damaging	Het
Thumpd3	T	C	6: 113,059,989	V283A	probably damaging	Het
Tm7sf2	T	C	19: 6,062,917	Y418C	possibly damaging	Het
Trim24	T	G	6: 37,919,397	F263C	probably damaging	Het
Trim24	T	A	6: 37,919,398	F263L	probably damaging	Het
Trip11	A	G	12: 101,883,537	S1423P	probably damaging	Het
Vps13c	G	A	9: 67,881,422	V326M	probably damaging	Het
Vps37c	T	C	19: 10,712,624	V150A	probably damaging	Het
Wdr90	C	T	17: 25,846,326	R1652Q	probably damaging	Het
Wfdc9	A	G	2: 164,650,596	V37A	probably damaging	Het
Yif1b	T	A	7: 29,245,903	M227K	probably damaging	Het
Zbtb18	T	C	1: 177,446,939		probably benign	Het
Zfp318	A	G	17: 46,399,894	T848A	probably benign	Het
Zfp808	T	A	13: 62,172,757	I600K	possibly damaging	Het
Zmym1	C	A	4: 127,054,245	S111I	probably benign	Het
Zmym2	A	G	14: 56,928,283	T688A	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
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

PCR Primer
(F):5'- ACTGTCTTTGACTGTCTGCG -3'
(R):5'- CTTGGTGGCCAAAGACAACG -3'

Sequencing Primer
(F):5'- GATTCCTCTCCAATCCTAGGCAC -3'
(R):5'- GCCAAAGACAACGTGGTGC -3'

Posted On

2019-11-26