Incidental Mutation 'R6836:Ncan'
| ID |
534571 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6836 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70545735-70573494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70552965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 1089
(S1089N)
|
| 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: S1089N
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: S1089N
| 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: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
C |
2: 26,971,718 (GRCm39) |
M1T |
probably null |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,331 (GRCm39) |
Y473C |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,080,715 (GRCm39) |
R209G |
possibly damaging |
Het |
| Asb5 |
A |
G |
8: 55,038,106 (GRCm39) |
M210V |
probably benign |
Het |
| Atp2c2 |
T |
A |
8: 120,461,154 (GRCm39) |
L249Q |
probably damaging |
Het |
| AU018091 |
T |
G |
7: 3,213,986 (GRCm39) |
D77A |
probably damaging |
Het |
| Bahcc1 |
A |
T |
11: 120,162,583 (GRCm39) |
K294* |
probably null |
Het |
| Baz2b |
C |
T |
2: 59,747,769 (GRCm39) |
R1298Q |
probably damaging |
Het |
| Bivm |
T |
A |
1: 44,182,296 (GRCm39) |
N501K |
possibly damaging |
Het |
| Bpifb5 |
T |
A |
2: 154,069,985 (GRCm39) |
I145N |
probably benign |
Het |
| Casq2 |
A |
T |
3: 101,994,076 (GRCm39) |
N41I |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,345,833 (GRCm39) |
L993P |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,798,233 (GRCm39) |
I81F |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,442 (GRCm39) |
D50G |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,512,144 (GRCm39) |
I91F |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,997,886 (GRCm39) |
H66L |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,163,467 (GRCm39) |
T321A |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,304,100 (GRCm39) |
V1268A |
probably benign |
Het |
| E030030I06Rik |
A |
C |
10: 22,024,391 (GRCm39) |
V174G |
probably damaging |
Het |
| Gm20730 |
G |
T |
6: 43,058,767 (GRCm39) |
|
probably null |
Het |
| Gm36176 |
T |
C |
10: 77,682,976 (GRCm39) |
|
probably benign |
Het |
| Gper1 |
T |
A |
5: 139,412,435 (GRCm39) |
M260K |
probably damaging |
Het |
| Igfbp2 |
T |
C |
1: 72,888,817 (GRCm39) |
L89P |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,830,974 (GRCm39) |
N200S |
probably damaging |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Klhl20 |
T |
A |
1: 160,932,976 (GRCm39) |
E277D |
probably benign |
Het |
| Lingo1 |
T |
C |
9: 56,527,056 (GRCm39) |
Y517C |
probably damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,992,527 (GRCm39) |
E82K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,573,955 (GRCm39) |
V1275D |
possibly damaging |
Het |
| Notch4 |
C |
T |
17: 34,805,074 (GRCm39) |
T1643I |
probably damaging |
Het |
| Or13a25 |
A |
C |
7: 140,248,093 (GRCm39) |
I298L |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,424 (GRCm39) |
L17P |
probably damaging |
Het |
| Or2y15 |
A |
T |
11: 49,350,904 (GRCm39) |
T133S |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,683 (GRCm39) |
C177R |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,015 (GRCm39) |
V241A |
probably benign |
Het |
| Phf11b |
T |
A |
14: 59,565,572 (GRCm39) |
T102S |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,800,233 (GRCm39) |
V2998E |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,801,629 (GRCm39) |
S352G |
probably benign |
Het |
| Ptprh |
C |
T |
7: 4,554,134 (GRCm39) |
V778M |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,030,664 (GRCm39) |
Q1008* |
probably null |
Het |
| Ralgapa1 |
A |
T |
12: 55,651,058 (GRCm39) |
|
probably null |
Het |
| Rbm20 |
G |
A |
19: 53,802,500 (GRCm39) |
G336E |
probably damaging |
Het |
| Sdsl |
T |
C |
5: 120,600,167 (GRCm39) |
I77V |
probably benign |
Het |
| Serpina3b |
G |
A |
12: 104,100,341 (GRCm39) |
E308K |
probably benign |
Het |
| Sfrp5 |
G |
A |
19: 42,190,149 (GRCm39) |
T101I |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,205,835 (GRCm39) |
V451I |
probably benign |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spg11 |
C |
T |
2: 121,890,016 (GRCm39) |
A2109T |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,324 (GRCm39) |
R2194C |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,097,123 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,464,655 (GRCm39) |
I128N |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
G |
1: 150,312,424 (GRCm39) |
|
probably null |
Het |
| Traf3ip1 |
T |
C |
1: 91,448,722 (GRCm39) |
I456T |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,728,572 (GRCm39) |
D892E |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,727,156 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,630 (GRCm39) |
I239F |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,100,865 (GRCm39) |
V251M |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,220,820 (GRCm39) |
L531H |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,434 (GRCm39) |
C383S |
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 |
|
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'- TGCCCACCAGTGAGTGATTG -3'
(R):5'- ACCTGTGTGAACTGTGTGGC -3'
Sequencing Primer
(F):5'- CCCACCAGTGAGTGATTGTTTCATAG -3'
(R):5'- GGTCTCCTGACTCACAAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation