Incidental Mutation 'R9803:Ncan'
| ID |
735322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncan
|
| Ensembl Gene |
ENSMUSG00000002341 |
| Gene Name |
neurocan |
| Synonyms |
Cspg3-rs, Tgfbit, Cspg3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70545735-70573494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70560751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 739
(D739N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002412]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002412
AA Change: D739N
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: D739N
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
G |
5: 113,841,964 (GRCm39) |
S52P |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,752,726 (GRCm39) |
M330T |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,698,340 (GRCm39) |
V905I |
possibly damaging |
Het |
| Anln |
G |
T |
9: 22,283,518 (GRCm39) |
D438E |
probably damaging |
Het |
| C1ql3 |
T |
C |
2: 13,009,200 (GRCm39) |
N215S |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,626 (GRCm39) |
S506G |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,175 (GRCm39) |
T556A |
probably benign |
Het |
| Cma1 |
A |
T |
14: 56,179,186 (GRCm39) |
N236K |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,262,986 (GRCm39) |
F724S |
|
Het |
| Cts8 |
T |
C |
13: 61,401,136 (GRCm39) |
K130R |
possibly damaging |
Het |
| Daam1 |
A |
T |
12: 71,990,922 (GRCm39) |
T179S |
unknown |
Het |
| Fancd2os |
T |
C |
6: 113,574,938 (GRCm39) |
T23A |
possibly damaging |
Het |
| Gbgt1 |
T |
A |
2: 28,394,866 (GRCm39) |
I168N |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,457,368 (GRCm39) |
G127D |
probably damaging |
Het |
| Gm11444 |
G |
A |
11: 85,737,699 (GRCm39) |
Q164* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,868,984 (GRCm39) |
V526E |
possibly damaging |
Het |
| Gm8947 |
T |
C |
1: 151,068,722 (GRCm39) |
V185A |
possibly damaging |
Het |
| Hoxd13 |
C |
A |
2: 74,499,247 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Hps6 |
T |
A |
19: 45,993,947 (GRCm39) |
L628* |
probably null |
Het |
| Igha |
G |
A |
12: 113,222,759 (GRCm39) |
H221Y |
|
Het |
| Ighm |
A |
G |
12: 113,382,635 (GRCm39) |
S453P |
|
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Lfng |
A |
G |
5: 140,593,528 (GRCm39) |
T120A |
probably damaging |
Het |
| Lrrc4 |
C |
T |
6: 28,662,199 (GRCm39) |
A172T |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,787,520 (GRCm39) |
T386A |
probably benign |
Het |
| Mapkbp1 |
A |
T |
2: 119,841,256 (GRCm39) |
H81L |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mrto4 |
T |
A |
4: 139,076,381 (GRCm39) |
N70I |
probably damaging |
Het |
| Mxra8 |
C |
T |
4: 155,924,282 (GRCm39) |
|
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,483,997 (GRCm39) |
E548G |
|
Het |
| Or2t45 |
T |
C |
11: 58,669,595 (GRCm39) |
V214A |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,259,563 (GRCm39) |
T215A |
possibly damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,088 (GRCm39) |
V86E |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,762,629 (GRCm39) |
V416M |
|
Het |
| Phf3 |
G |
T |
1: 30,869,872 (GRCm39) |
T392K |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,637,073 (GRCm39) |
V379E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,539 (GRCm39) |
Y1080C |
probably benign |
Het |
| Ptprs |
C |
A |
17: 56,729,217 (GRCm39) |
G1254C |
probably damaging |
Het |
| Qsox1 |
A |
T |
1: 155,658,416 (GRCm39) |
D384E |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,477,761 (GRCm39) |
F23L |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Sidt2 |
A |
G |
9: 45,854,912 (GRCm39) |
Y588H |
probably damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,066 (GRCm39) |
I66K |
probably damaging |
Het |
| Tbc1d30 |
T |
A |
10: 121,107,980 (GRCm39) |
D474V |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,685 (GRCm39) |
G100D |
probably damaging |
Het |
| Tmem258 |
G |
A |
19: 10,184,637 (GRCm39) |
V75I |
probably benign |
Het |
| Tmem91 |
G |
T |
7: 25,369,988 (GRCm39) |
H95N |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,710,090 (GRCm39) |
K87E |
possibly damaging |
Het |
| Tspan11 |
T |
A |
6: 127,920,680 (GRCm39) |
M209K |
probably benign |
Het |
| Tspan17 |
C |
A |
13: 54,941,092 (GRCm39) |
Q124K |
probably benign |
Het |
| Uts2b |
G |
A |
16: 27,179,692 (GRCm39) |
R105* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,730 (GRCm39) |
T282S |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,229,455 (GRCm39) |
M333L |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,781,833 (GRCm39) |
E482G |
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 |
|
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 |
|
Z1177:Ncan
|
UTSW |
8 |
70,550,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTAGGTTCCATGCTCACG -3'
(R):5'- TCCCAGAAGAACAGGCTGTC -3'
Sequencing Primer
(F):5'- TCACGGCAACCCCATGG -3'
(R):5'- GCTGTCAGGCCTGTCAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation