Mutagenetix > Incidental Mutation

Incidental Mutation 'R0918:Ncan'

81544

Institutional Source

Beutler Lab

Gene Symbol

Ncan

Ensembl Gene

ENSMUSG00000002341

Gene Name

neurocan

Synonyms

Cspg3-rs, Tgfbit, Cspg3

MMRRC Submission

039068-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0918 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70545735-70573494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70561039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 643 (M643L)

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: M643L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: M643L

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: 99.5%
3x: 98.7%
10x: 96.2%
20x: 90.0%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	G	3: 59,946,953 (GRCm39)	I217R	probably damaging	Het
Acp1	G	T	12: 30,955,126 (GRCm39)	S20*	probably null	Het
Adcy3	A	G	12: 4,248,360 (GRCm39)	D474G	probably benign	Het
Apob	T	C	12: 8,033,941 (GRCm39)	I217T	probably benign	Het
Cdh12	G	A	15: 21,492,685 (GRCm39)	V235I	probably damaging	Het
Cdhr5	T	A	7: 140,852,062 (GRCm39)	T197S	probably damaging	Het
Cerkl	A	G	2: 79,163,973 (GRCm39)	I449T	probably benign	Het
Cpz	A	G	5: 35,674,998 (GRCm39)	Y84H	probably damaging	Het
Drosha	T	C	15: 12,842,619 (GRCm39)		probably null	Het
Fbxo11	A	T	17: 88,305,031 (GRCm39)	N613K	probably damaging	Het
Fes	G	T	7: 80,030,953 (GRCm39)	T536K	probably damaging	Het
Gm13941	G	C	2: 110,930,945 (GRCm39)	T76R	unknown	Het
Lrp1	T	C	10: 127,429,834 (GRCm39)	E412G	probably damaging	Het
Map3k12	T	C	15: 102,412,287 (GRCm39)	I285V	probably damaging	Het
Map3k13	G	A	16: 21,744,990 (GRCm39)	D850N	probably damaging	Het
Mapk4	C	T	18: 74,103,408 (GRCm39)	V34M	probably damaging	Het
Morn1	T	A	4: 155,171,928 (GRCm39)	W43R	probably damaging	Het
Npc1l1	G	A	11: 6,168,239 (GRCm39)	T984M	probably damaging	Het
Or14c44	A	G	7: 86,062,403 (GRCm39)	T278A	probably benign	Het
Or5a3	A	G	19: 12,400,599 (GRCm39)	K309E	probably benign	Het
Or5ak4	A	G	2: 85,162,276 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,418 (GRCm39)	I209T	probably benign	Het
Pcdhb22	T	C	18: 37,653,067 (GRCm39)	F255L	probably damaging	Het
Pi4ka	T	C	16: 17,103,124 (GRCm39)	D1697G	possibly damaging	Het
Pla2g12b	A	G	10: 59,257,306 (GRCm39)	D163G	probably damaging	Het
Pot1a	G	A	6: 25,756,267 (GRCm39)	T359M	possibly damaging	Het
Sass6	G	A	3: 116,397,172 (GRCm39)		probably null	Het
Scn1a	C	T	2: 66,153,651 (GRCm39)		probably null	Het
Slc38a1	A	G	15: 96,507,743 (GRCm39)	L103P	probably damaging	Het
Slc38a6	T	A	12: 73,391,559 (GRCm39)		probably null	Het
Smarca4	C	T	9: 21,547,511 (GRCm39)	P265S	probably benign	Het
Snrpa1	A	G	7: 65,720,363 (GRCm39)	T189A	probably benign	Het
Snx11	G	A	11: 96,660,104 (GRCm39)	P195L	possibly damaging	Het
Spen	T	G	4: 141,212,875 (GRCm39)	I584L	unknown	Het
Sult2a5	T	A	7: 13,359,334 (GRCm39)	H103Q	probably benign	Het
Syce1	T	C	7: 140,360,436 (GRCm39)	K50E	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem132a	A	G	19: 10,835,477 (GRCm39)	S1018P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTAAGTCCAAGACCCCAGACTC -3'
(R):5'- TTGATCTCACCCAGTGTCCCAAGC -3'

Sequencing Primer
(F):5'- GGACAGGATTCATCGTCACATTAC -3'
(R):5'- GACAGTACTCCTAGCGCGAAG -3'

Posted On

2013-11-07