Mutagenetix > Incidental Mutation

Incidental Mutation 'R3408:Ncan'

258378

Institutional Source

Beutler Lab

Gene Symbol

Ncan

Ensembl Gene

ENSMUSG00000002341

Gene Name

neurocan

Synonyms

Cspg3-rs, Tgfbit, Cspg3

MMRRC Submission

040626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3408 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

70545735-70573494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70564801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 271 (T271I)

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: T271I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: T271I

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: 99.0%
3x: 98.2%
10x: 95.8%
20x: 89.1%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Adam17	T	A	12: 21,379,119 (GRCm39)	K643N	probably damaging	Het
Adgrg4	A	T	X: 56,013,487 (GRCm39)	I2838F	probably damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,539,068 (GRCm39)	V167A	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,620,578 (GRCm39)	T865M	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,038,254 (GRCm39)	Y341N	probably damaging	Het
Frem1	A	T	4: 82,930,223 (GRCm39)	V241E	probably damaging	Het
Gpi1	A	G	7: 33,902,104 (GRCm39)	V500A	probably damaging	Het
Ilk	A	T	7: 105,390,181 (GRCm39)	M155L	probably benign	Het
Ipo8	T	C	6: 148,723,207 (GRCm39)	D70G	probably benign	Het
Macf1	T	C	4: 123,275,574 (GRCm39)	Q6283R	probably damaging	Het
Mfsd1	T	A	3: 67,504,046 (GRCm39)	M346K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo7a	A	T	7: 97,730,294 (GRCm39)	F758Y	probably benign	Het
Nalcn	T	A	14: 123,834,029 (GRCm39)	S49C	probably null	Het
Nr5a2	C	T	1: 136,868,236 (GRCm39)	A299T	probably benign	Het
Or10ag60	A	T	2: 87,438,220 (GRCm39)	I163L	probably benign	Het
Or4g16	A	T	2: 111,136,850 (GRCm39)	Q100L	probably damaging	Het
Or51q1c	G	T	7: 103,652,550 (GRCm39)	E23*	probably null	Het
Or9s23	A	G	1: 92,501,675 (GRCm39)	T261A	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Plch1	A	G	3: 63,606,768 (GRCm39)		probably benign	Het
Plekhg5	A	G	4: 152,192,749 (GRCm39)	T559A	probably damaging	Het
Rfx2	G	T	17: 57,110,526 (GRCm39)	D153E	probably benign	Het
Sh3bp4	G	T	1: 89,072,769 (GRCm39)	C539F	possibly damaging	Het
Slco1b2	A	T	6: 141,621,982 (GRCm39)	H479L	probably benign	Het
Spmip9	C	T	6: 70,892,690 (GRCm39)	S19N	possibly damaging	Het
Tmem150b	G	T	7: 4,727,339 (GRCm39)	F55L	probably damaging	Het
Vmn1r60	A	T	7: 5,548,148 (GRCm39)		probably null	Het
Vmn2r80	C	T	10: 79,004,227 (GRCm39)	L147F	possibly damaging	Het
Vps50	A	T	6: 3,600,212 (GRCm39)	K890N	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
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
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'- TTCCTAACGCACCTCGGAAG -3'
(R):5'- TGCTAAGTCTCCTCAGAAAGC -3'

Sequencing Primer
(F):5'- TAACGCACCTCGGAAGCAGTAG -3'
(R):5'- GTCTCCTCAGAAAGCTCCAAAGTTG -3'

Posted On

2015-01-23