Incidental Mutation 'IGL01319:Ncan'
| ID |
73983 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncan
|
| Ensembl Gene |
ENSMUSG00000002341 |
| Gene Name |
neurocan |
| Synonyms |
Cspg3-rs, Tgfbit, Cspg3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70545735-70573494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70550212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1188
(V1188D)
|
| 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: V1188D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: V1188D
| 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
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,888,077 (GRCm39) |
V307E |
probably benign |
Het |
| Bub1b |
T |
C |
2: 118,445,475 (GRCm39) |
I265T |
possibly damaging |
Het |
| Cemip2 |
C |
T |
19: 21,822,121 (GRCm39) |
P1172L |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,935,651 (GRCm39) |
T404I |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,630 (GRCm39) |
S165P |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,391,007 (GRCm39) |
F756L |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,589,617 (GRCm39) |
V480A |
possibly damaging |
Het |
| Drc3 |
A |
G |
11: 60,255,788 (GRCm39) |
D125G |
probably null |
Het |
| Emid1 |
C |
T |
11: 5,093,859 (GRCm39) |
C96Y |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,434,531 (GRCm39) |
N99S |
probably damaging |
Het |
| Fam20a |
A |
G |
11: 109,569,284 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
C |
A |
6: 113,561,860 (GRCm39) |
T1243K |
probably damaging |
Het |
| Fbxw14 |
T |
C |
9: 109,107,859 (GRCm39) |
K172E |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,925,150 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
T |
13: 9,035,296 (GRCm39) |
N354K |
probably benign |
Het |
| Igkv2-116 |
T |
C |
6: 68,129,388 (GRCm39) |
L50P |
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,093,548 (GRCm39) |
P23L |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,847,584 (GRCm39) |
I26F |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,012,840 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,010,880 (GRCm39) |
V704M |
possibly damaging |
Het |
| Mbip |
A |
G |
12: 56,377,027 (GRCm39) |
V303A |
probably benign |
Het |
| Mipep |
A |
T |
14: 61,080,720 (GRCm39) |
M571L |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,566 (GRCm39) |
V292A |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,806,893 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2c |
T |
A |
5: 37,104,465 (GRCm39) |
S282T |
possibly damaging |
Het |
| Rad54l2 |
C |
T |
9: 106,596,245 (GRCm39) |
G231D |
probably benign |
Het |
| Rnf20 |
T |
G |
4: 49,649,326 (GRCm39) |
D443E |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,781,996 (GRCm39) |
M1108V |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,227,278 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
C |
A |
7: 44,002,547 (GRCm39) |
A1422E |
possibly damaging |
Het |
| Skic3 |
A |
G |
13: 76,277,498 (GRCm39) |
H491R |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,284,288 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,072,047 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,994,907 (GRCm39) |
I178V |
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,434 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
A |
T |
6: 115,553,945 (GRCm39) |
Q441L |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,509,492 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,711,648 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,678 (GRCm39) |
S293L |
probably damaging |
Het |
| Zcchc13 |
C |
A |
X: 102,674,606 (GRCm39) |
Q110K |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation