Incidental Mutation 'R1847:Ncan'
ID |
207803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncan
|
Ensembl Gene |
ENSMUSG00000002341 |
Gene Name |
neurocan |
Synonyms |
Cspg3-rs, Tgfbit, Cspg3 |
MMRRC Submission |
039872-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70545735-70573494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 70555104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1021
(I1021N)
|
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: I1021N
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000002412 Gene: ENSMUSG00000002341 AA Change: I1021N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184696
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
Validation Efficiency |
97% (68/70) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
C |
A |
16: 14,263,313 (GRCm39) |
R758S |
probably benign |
Het |
Acnat1 |
A |
T |
4: 49,447,716 (GRCm39) |
H288Q |
possibly damaging |
Het |
Adamts1 |
T |
C |
16: 85,599,114 (GRCm39) |
E162G |
possibly damaging |
Het |
Akap11 |
A |
G |
14: 78,751,101 (GRCm39) |
S429P |
probably benign |
Het |
Alg14 |
T |
C |
3: 121,155,415 (GRCm39) |
Y212H |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,357,007 (GRCm39) |
T97A |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,420,821 (GRCm39) |
N310Y |
possibly damaging |
Het |
Cenpl |
A |
T |
1: 160,913,574 (GRCm39) |
Y328F |
probably damaging |
Het |
Cep162 |
G |
A |
9: 87,086,133 (GRCm39) |
H1064Y |
probably benign |
Het |
Cnksr3 |
T |
A |
10: 7,104,324 (GRCm39) |
E126D |
probably benign |
Het |
Ctsh |
T |
A |
9: 89,943,618 (GRCm39) |
M81K |
probably benign |
Het |
D6Wsu163e |
A |
G |
6: 126,932,112 (GRCm39) |
T284A |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,309,616 (GRCm39) |
M196K |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,725,212 (GRCm39) |
G4314C |
probably damaging |
Het |
Dph1 |
A |
G |
11: 75,070,557 (GRCm39) |
Y361H |
probably damaging |
Het |
Ect2 |
C |
T |
3: 27,204,221 (GRCm39) |
M29I |
probably benign |
Het |
Eif3h |
T |
C |
15: 51,661,066 (GRCm39) |
Y167C |
probably damaging |
Het |
Epc2 |
C |
T |
2: 49,422,101 (GRCm39) |
R332C |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,897,282 (GRCm39) |
|
probably null |
Het |
Gfm2 |
A |
G |
13: 97,299,442 (GRCm39) |
I386V |
probably benign |
Het |
Gpd1l |
G |
A |
9: 114,743,399 (GRCm39) |
T167I |
probably damaging |
Het |
Hsph1 |
T |
A |
5: 149,546,950 (GRCm39) |
K567* |
probably null |
Het |
Igfn1 |
T |
G |
1: 135,897,126 (GRCm39) |
S1147R |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,874,590 (GRCm39) |
V406A |
probably benign |
Het |
Kcna2 |
A |
G |
3: 107,012,429 (GRCm39) |
I337V |
possibly damaging |
Het |
Kcnab1 |
T |
C |
3: 65,209,615 (GRCm39) |
|
probably null |
Het |
Kri1 |
G |
T |
9: 21,191,788 (GRCm39) |
|
probably benign |
Het |
Lrguk |
T |
A |
6: 34,110,322 (GRCm39) |
I801K |
possibly damaging |
Het |
Magi2 |
A |
T |
5: 20,807,458 (GRCm39) |
N871Y |
probably damaging |
Het |
Map3k10 |
G |
T |
7: 27,360,981 (GRCm39) |
|
probably null |
Het |
Mrps25 |
T |
C |
6: 92,155,721 (GRCm39) |
T71A |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,390,321 (GRCm39) |
W945* |
probably null |
Het |
Ncf4 |
C |
A |
15: 78,134,582 (GRCm39) |
S11R |
probably benign |
Het |
Neb |
A |
C |
2: 52,086,307 (GRCm39) |
S5255R |
possibly damaging |
Het |
Nop2 |
TGATGAAGATGAAGATGA |
TGATGAAGATGA |
6: 125,114,042 (GRCm39) |
|
probably benign |
Het |
Or4c102 |
G |
A |
2: 88,422,516 (GRCm39) |
A123T |
probably damaging |
Het |
Or5ak22 |
A |
T |
2: 85,230,785 (GRCm39) |
F31I |
probably damaging |
Het |
Or5d16 |
T |
C |
2: 87,773,065 (GRCm39) |
|
probably null |
Het |
Pacs1 |
T |
C |
19: 5,203,742 (GRCm39) |
I328V |
probably damaging |
Het |
Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
Pan2 |
A |
G |
10: 128,140,247 (GRCm39) |
H56R |
possibly damaging |
Het |
Pigo |
G |
A |
4: 43,024,710 (GRCm39) |
R124* |
probably null |
Het |
Ppfia2 |
A |
G |
10: 106,763,571 (GRCm39) |
D1188G |
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,603,355 (GRCm39) |
N327D |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,172,656 (GRCm39) |
C223R |
possibly damaging |
Het |
Rad50 |
A |
G |
11: 53,592,934 (GRCm39) |
V72A |
possibly damaging |
Het |
Rcor3 |
T |
A |
1: 191,785,133 (GRCm39) |
D445V |
possibly damaging |
Het |
Rundc1 |
T |
A |
11: 101,324,507 (GRCm39) |
H404Q |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,779,236 (GRCm39) |
K2083E |
probably benign |
Het |
Scd3 |
C |
A |
19: 44,224,281 (GRCm39) |
H171Q |
probably damaging |
Het |
Scrn2 |
T |
C |
11: 96,923,021 (GRCm39) |
F155L |
probably benign |
Het |
Serpina12 |
A |
T |
12: 103,998,769 (GRCm39) |
L323Q |
probably damaging |
Het |
Sptlc3 |
T |
A |
2: 139,467,843 (GRCm39) |
M467K |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,528,970 (GRCm39) |
R1742S |
possibly damaging |
Het |
Thbd |
A |
T |
2: 148,249,604 (GRCm39) |
L88* |
probably null |
Het |
Tln2 |
G |
A |
9: 67,269,969 (GRCm39) |
Q477* |
probably null |
Het |
Tnn |
T |
A |
1: 159,943,752 (GRCm39) |
E1020D |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,726,990 (GRCm39) |
H3Q |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmp1 |
G |
A |
11: 86,534,413 (GRCm39) |
Q165* |
probably null |
Het |
Zfp758 |
T |
A |
17: 22,594,204 (GRCm39) |
M230K |
probably benign |
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 |
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'- ATGACACCCAGACAGACATGTG -3'
(R):5'- AGCAATCCCTGTGGGTATCC -3'
Sequencing Primer
(F):5'- TGATTGCCACCAAGTCTGAG -3'
(R):5'- CCTGTGGGTATCCAGGGGATG -3'
|
Posted On |
2014-06-23 |