Incidental Mutation 'R6033:Ncan'
ID |
486389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncan
|
Ensembl Gene |
ENSMUSG00000002341 |
Gene Name |
neurocan |
Synonyms |
Cspg3-rs, Tgfbit, Cspg3 |
MMRRC Submission |
044205-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6033 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70545735-70573494 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70565240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 229
(D229G)
|
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: D229G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002412 Gene: ENSMUSG00000002341 AA Change: D229G
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 |
0.5098 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
Validation Efficiency |
100% (55/55) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
T |
A |
8: 84,645,551 (GRCm39) |
V58E |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,118,403 (GRCm39) |
S240P |
probably damaging |
Het |
Alox12e |
C |
T |
11: 70,206,839 (GRCm39) |
G616D |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Ccdc150 |
G |
T |
1: 54,324,787 (GRCm39) |
|
probably null |
Het |
Chct1 |
A |
G |
11: 85,069,198 (GRCm39) |
E72G |
probably damaging |
Het |
Cmtm8 |
T |
C |
9: 114,625,141 (GRCm39) |
T97A |
probably damaging |
Het |
Cnmd |
T |
C |
14: 79,898,945 (GRCm39) |
S36G |
probably benign |
Het |
Dnah3 |
A |
C |
7: 119,670,870 (GRCm39) |
N609K |
probably benign |
Het |
Dph1 |
C |
T |
11: 75,082,023 (GRCm39) |
|
probably benign |
Het |
Drosha |
G |
A |
15: 12,926,085 (GRCm39) |
A1225T |
probably benign |
Het |
Eid3 |
T |
A |
10: 82,703,487 (GRCm39) |
I316K |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,530,622 (GRCm39) |
L449S |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,063,066 (GRCm39) |
|
probably benign |
Het |
Glra1 |
A |
G |
11: 55,418,245 (GRCm39) |
Y250H |
probably damaging |
Het |
Gm21972 |
T |
C |
1: 86,064,817 (GRCm39) |
Y950H |
probably damaging |
Het |
Gm6712 |
T |
A |
17: 17,514,678 (GRCm39) |
|
noncoding transcript |
Het |
Grb7 |
C |
T |
11: 98,346,023 (GRCm39) |
|
probably null |
Het |
Hivep1 |
A |
G |
13: 42,310,583 (GRCm39) |
E941G |
probably benign |
Het |
Homer2 |
A |
C |
7: 81,268,427 (GRCm39) |
S78A |
possibly damaging |
Het |
Ica1 |
T |
A |
6: 8,630,799 (GRCm39) |
|
probably null |
Het |
Ifna12 |
T |
C |
4: 88,521,154 (GRCm39) |
E131G |
possibly damaging |
Het |
Igbp1b |
T |
C |
6: 138,635,207 (GRCm39) |
Y79C |
probably damaging |
Het |
Incenp |
C |
T |
19: 9,850,061 (GRCm39) |
V871I |
probably damaging |
Het |
Jaml |
G |
A |
9: 45,000,008 (GRCm39) |
G60D |
probably damaging |
Het |
Kcp |
C |
T |
6: 29,493,193 (GRCm39) |
C110Y |
probably damaging |
Het |
Manba |
T |
C |
3: 135,255,022 (GRCm39) |
V460A |
probably benign |
Het |
Myrfl |
A |
T |
10: 116,685,006 (GRCm39) |
C125S |
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,225,475 (GRCm39) |
|
noncoding transcript |
Het |
Nlrp10 |
A |
T |
7: 108,523,784 (GRCm39) |
D565E |
probably benign |
Het |
Npas2 |
T |
C |
1: 39,377,261 (GRCm39) |
V541A |
probably damaging |
Het |
Nsg2 |
G |
A |
11: 32,005,058 (GRCm39) |
V87M |
possibly damaging |
Het |
Or5al6 |
A |
T |
2: 85,976,613 (GRCm39) |
V155E |
probably damaging |
Het |
Prkd2 |
C |
T |
7: 16,599,639 (GRCm39) |
R701C |
probably damaging |
Het |
Prr3 |
A |
T |
17: 36,289,516 (GRCm39) |
|
probably null |
Het |
Prr5 |
A |
G |
15: 84,626,126 (GRCm39) |
E67G |
probably damaging |
Het |
Prss36 |
T |
C |
7: 127,533,739 (GRCm39) |
R22G |
probably benign |
Het |
Slc45a4 |
G |
A |
15: 73,453,825 (GRCm39) |
A716V |
probably damaging |
Het |
Slc46a1 |
T |
C |
11: 78,356,833 (GRCm39) |
|
probably null |
Het |
Slc6a5 |
T |
C |
7: 49,609,099 (GRCm39) |
I768T |
probably benign |
Het |
Slco6c1 |
C |
T |
1: 97,009,041 (GRCm39) |
|
probably null |
Het |
Taar2 |
A |
T |
10: 23,816,874 (GRCm39) |
H138L |
probably benign |
Het |
Taf2 |
A |
C |
15: 54,922,297 (GRCm39) |
L330R |
probably damaging |
Het |
Tgm5 |
T |
C |
2: 120,901,210 (GRCm39) |
|
probably null |
Het |
Tmed4 |
A |
T |
11: 6,224,491 (GRCm39) |
Y56* |
probably null |
Het |
Tmem156 |
A |
T |
5: 65,232,964 (GRCm39) |
F135L |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,025,713 (GRCm39) |
S65P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,557,171 (GRCm39) |
G28199R |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,447,159 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
T |
1: 66,512,419 (GRCm39) |
T110S |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,137 (GRCm39) |
V809E |
probably damaging |
Het |
Zbtb2 |
A |
G |
10: 4,318,599 (GRCm39) |
F476L |
probably damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,397 (GRCm39) |
F498L |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,236,419 (GRCm39) |
L494Q |
probably damaging |
Het |
Zfp281 |
T |
C |
1: 136,554,464 (GRCm39) |
S481P |
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 |
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 |
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'- AGATCCCACGTGCAGCTTTG -3'
(R):5'- TGGCTTTGACAACTGCGAC -3'
Sequencing Primer
(F):5'- CTTTGGAGGGCACAAAGAATTC -3'
(R):5'- GACAACTGCGACGCGGG -3'
|
Posted On |
2017-08-16 |