Incidental Mutation 'R8113:Ncan'
| ID |
631009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncan
|
| Ensembl Gene |
ENSMUSG00000002341 |
| Gene Name |
neurocan |
| Synonyms |
Cspg3-rs, Tgfbit, Cspg3 |
| MMRRC Submission |
067542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8113 (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 A
at 70561221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 582
(D582V)
|
| 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: D582V
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: D582V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
96% (72/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
T |
C |
8: 89,048,431 (GRCm39) |
S625P |
probably damaging |
Het |
| Agpat1 |
T |
C |
17: 34,830,586 (GRCm39) |
V170A |
probably damaging |
Het |
| Alg9 |
C |
T |
9: 50,720,080 (GRCm39) |
Q519* |
probably null |
Het |
| Apol8 |
C |
T |
15: 77,634,336 (GRCm39) |
R80H |
probably benign |
Het |
| Arhgap25 |
G |
T |
6: 87,465,287 (GRCm39) |
S118* |
probably null |
Het |
| Arhgap30 |
T |
A |
1: 171,225,086 (GRCm39) |
Y47* |
probably null |
Het |
| Arhgap42 |
C |
T |
9: 9,011,434 (GRCm39) |
D451N |
probably damaging |
Het |
| Cabp2 |
T |
A |
19: 4,135,582 (GRCm39) |
F91I |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,230,943 (GRCm39) |
E108G |
probably benign |
Het |
| Cfap99 |
T |
C |
5: 34,458,763 (GRCm39) |
S53P |
probably damaging |
Het |
| Clec5a |
C |
T |
6: 40,556,361 (GRCm39) |
R135H |
possibly damaging |
Het |
| Cops8 |
T |
G |
1: 90,531,325 (GRCm39) |
D18E |
probably benign |
Het |
| Cped1 |
A |
T |
6: 22,233,480 (GRCm39) |
M779L |
possibly damaging |
Het |
| Cyp4x1 |
G |
A |
4: 114,967,263 (GRCm39) |
H438Y |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,815,014 (GRCm39) |
T293S |
probably benign |
Het |
| Ercc1 |
T |
C |
7: 19,084,102 (GRCm39) |
L113S |
probably damaging |
Het |
| Ermp1 |
G |
T |
19: 29,593,196 (GRCm39) |
N765K |
probably benign |
Het |
| Fam83c |
A |
G |
2: 155,676,740 (GRCm39) |
I10T |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,513,008 (GRCm39) |
V788A |
probably benign |
Het |
| Fbn1 |
C |
G |
2: 125,319,489 (GRCm39) |
G92R |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,881 (GRCm39) |
M328K |
probably benign |
Het |
| Fzd3 |
C |
A |
14: 65,440,262 (GRCm39) |
S636I |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,594,330 (GRCm39) |
S886P |
probably damaging |
Het |
| Gatad2b |
T |
A |
3: 90,249,029 (GRCm39) |
D22E |
probably benign |
Het |
| Gm7168 |
A |
T |
17: 14,169,238 (GRCm39) |
K202* |
probably null |
Het |
| Gmps |
T |
C |
3: 63,887,690 (GRCm39) |
I54T |
probably damaging |
Het |
| Gp6 |
A |
G |
7: 4,397,114 (GRCm39) |
I107T |
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,273,267 (GRCm39) |
V217A |
possibly damaging |
Het |
| Hdlbp |
T |
A |
1: 93,344,917 (GRCm39) |
I863F |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,624,841 (GRCm39) |
I1021M |
possibly damaging |
Het |
| Igkv6-14 |
C |
T |
6: 70,412,087 (GRCm39) |
A66T |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Iqch |
A |
G |
9: 63,361,855 (GRCm39) |
I925T |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,791,223 (GRCm39) |
E522G |
possibly damaging |
Het |
| Kremen2 |
C |
G |
17: 23,962,776 (GRCm39) |
E103D |
probably damaging |
Het |
| Lig4 |
G |
T |
8: 10,023,485 (GRCm39) |
N98K |
probably benign |
Het |
| Lrrc3b |
T |
G |
14: 15,358,232 (GRCm38) |
I125L |
probably benign |
Het |
| Lrrc4 |
T |
C |
6: 28,829,902 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrsam1 |
A |
G |
2: 32,837,901 (GRCm39) |
Y218H |
possibly damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,119,593 (GRCm39) |
V191I |
probably benign |
Het |
| Nadk |
T |
A |
4: 155,655,127 (GRCm39) |
|
probably null |
Het |
| Napb |
C |
A |
2: 148,551,351 (GRCm39) |
A61S |
possibly damaging |
Het |
| Ncl |
T |
C |
1: 86,284,364 (GRCm39) |
D244G |
possibly damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,791,715 (GRCm39) |
N800S |
possibly damaging |
Het |
| Nlrp9b |
C |
T |
7: 19,753,260 (GRCm39) |
T55M |
probably benign |
Het |
| Nobox |
G |
A |
6: 43,282,951 (GRCm39) |
T228I |
probably benign |
Het |
| Npffr1 |
C |
A |
10: 61,449,750 (GRCm39) |
P8H |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,154,156 (GRCm39) |
Y587C |
probably damaging |
Het |
| Nsd1 |
T |
G |
13: 55,393,434 (GRCm39) |
V448G |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,371 (GRCm39) |
V142D |
probably benign |
Het |
| Or5e1 |
G |
T |
7: 108,354,438 (GRCm39) |
C125F |
probably damaging |
Het |
| Or8k41 |
T |
G |
2: 86,313,412 (GRCm39) |
I225L |
probably damaging |
Het |
| Or9g20 |
A |
G |
2: 85,630,011 (GRCm39) |
L201P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Ppp5c |
T |
C |
7: 16,742,932 (GRCm39) |
T229A |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,143,850 (GRCm39) |
Y329C |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,577,993 (GRCm39) |
R101C |
probably damaging |
Het |
| Psg22 |
T |
C |
7: 18,456,987 (GRCm39) |
M290T |
probably benign |
Het |
| Pzp |
C |
T |
6: 128,490,694 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,516,784 (GRCm39) |
V347A |
probably benign |
Het |
| Rttn |
A |
T |
18: 89,029,040 (GRCm39) |
H586L |
probably damaging |
Het |
| Sema3f |
A |
T |
9: 107,565,275 (GRCm39) |
I259K |
possibly damaging |
Het |
| Sgpp1 |
A |
T |
12: 75,763,374 (GRCm39) |
L269Q |
probably damaging |
Het |
| Slc22a8 |
A |
C |
19: 8,582,903 (GRCm39) |
I195L |
probably benign |
Het |
| Slc35a5 |
T |
C |
16: 44,962,551 (GRCm39) |
T425A |
unknown |
Het |
| Spata31e1 |
G |
A |
13: 49,939,548 (GRCm39) |
R721C |
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,970 (GRCm39) |
T180I |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
| Tnfaip8l3 |
T |
A |
9: 53,934,421 (GRCm39) |
R185W |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,590,393 (GRCm39) |
D21105E |
probably benign |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,729 (GRCm39) |
M209L |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,642 (GRCm39) |
H340R |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,674,481 (GRCm39) |
C412R |
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 |
|
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 |
|
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'- TCGAAGCATGGCTACAATGG -3'
(R):5'- TGGAGCCTGTATCTCTATGAAGTAC -3'
Sequencing Primer
(F):5'- CATGGCTACAATGGGGAAGTC -3'
(R):5'- TCTCTATGAAGTACAGACTGGCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation