Incidental Mutation 'R7406:Ncan'
ID |
574743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncan
|
Ensembl Gene |
ENSMUSG00000002341 |
Gene Name |
neurocan |
Synonyms |
Cspg3-rs, Tgfbit, Cspg3 |
MMRRC Submission |
045487-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7406 (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 G
at 70562749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 503
(D503A)
|
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: D503A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000002412 Gene: ENSMUSG00000002341 AA Change: D503A
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (60/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
T |
C |
1: 85,974,231 (GRCm39) |
S183P |
possibly damaging |
Het |
2900092C05Rik |
A |
G |
7: 12,249,391 (GRCm39) |
T75A |
possibly damaging |
Het |
Abhd8 |
A |
G |
8: 71,914,406 (GRCm39) |
V74A |
probably benign |
Het |
Agrn |
A |
C |
4: 156,256,758 (GRCm39) |
S1282R |
possibly damaging |
Het |
Atf5 |
T |
C |
7: 44,462,380 (GRCm39) |
N248S |
possibly damaging |
Het |
Atp2a3 |
A |
G |
11: 72,869,576 (GRCm39) |
Y497C |
probably damaging |
Het |
Bpifa2 |
T |
G |
2: 153,851,739 (GRCm39) |
S58R |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,604,600 (GRCm39) |
E1238K |
possibly damaging |
Het |
Ccdc71 |
T |
A |
9: 108,340,523 (GRCm39) |
L112* |
probably null |
Het |
Cd300e |
A |
T |
11: 114,946,128 (GRCm39) |
I111N |
probably damaging |
Het |
Cdkl3 |
A |
T |
11: 51,924,369 (GRCm39) |
E552D |
probably benign |
Het |
Chst5 |
A |
G |
8: 112,617,245 (GRCm39) |
V125A |
probably benign |
Het |
Clock |
A |
T |
5: 76,414,692 (GRCm39) |
M1K |
probably null |
Het |
Cops7b |
T |
A |
1: 86,528,852 (GRCm39) |
L193Q |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,338,707 (GRCm39) |
T467A |
probably damaging |
Het |
Ctr9 |
A |
G |
7: 110,652,615 (GRCm39) |
E971G |
unknown |
Het |
Dcp2 |
A |
G |
18: 44,543,254 (GRCm39) |
T271A |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,172 (GRCm39) |
N2639S |
possibly damaging |
Het |
Fhip1a |
T |
C |
3: 85,637,784 (GRCm39) |
I172V |
probably benign |
Het |
Gm11168 |
C |
G |
9: 3,006,912 (GRCm39) |
C212W |
probably benign |
Het |
Gpr179 |
G |
T |
11: 97,242,420 (GRCm39) |
D141E |
probably damaging |
Het |
H2bc4 |
A |
G |
13: 23,868,342 (GRCm39) |
Y43C |
probably damaging |
Het |
Hdhd2 |
C |
T |
18: 77,031,811 (GRCm39) |
T89M |
probably benign |
Het |
Krt6b |
T |
G |
15: 101,587,513 (GRCm39) |
T194P |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,266,030 (GRCm39) |
|
probably null |
Het |
Maneal |
A |
T |
4: 124,754,161 (GRCm39) |
I214N |
possibly damaging |
Het |
Map1lc3b |
T |
A |
8: 122,317,355 (GRCm39) |
C11S |
unknown |
Het |
Mapt |
G |
A |
11: 104,213,350 (GRCm39) |
G296E |
possibly damaging |
Het |
Mgam |
A |
G |
6: 40,640,459 (GRCm39) |
N509S |
probably benign |
Het |
Mrgprx1 |
T |
A |
7: 47,671,733 (GRCm39) |
I5F |
possibly damaging |
Het |
Mroh5 |
T |
C |
15: 73,659,583 (GRCm39) |
D416G |
probably benign |
Het |
Nedd1 |
A |
T |
10: 92,547,185 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,298,351 (GRCm39) |
T641A |
probably benign |
Het |
Or2b6 |
T |
C |
13: 21,823,316 (GRCm39) |
I126V |
probably benign |
Het |
Or4k2 |
T |
A |
14: 50,424,015 (GRCm39) |
I221F |
probably damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,435 (GRCm39) |
D50E |
probably benign |
Het |
Or8b1b |
T |
A |
9: 38,375,439 (GRCm39) |
M34K |
possibly damaging |
Het |
Pcdhga8 |
A |
C |
18: 37,859,238 (GRCm39) |
Q98P |
possibly damaging |
Het |
Pik3c2a |
A |
G |
7: 115,953,242 (GRCm39) |
Y1218H |
probably damaging |
Het |
Ppp3cc |
A |
T |
14: 70,483,387 (GRCm39) |
S229T |
possibly damaging |
Het |
Prss43 |
T |
G |
9: 110,657,764 (GRCm39) |
I221S |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
Serpinb9f |
G |
T |
13: 33,518,543 (GRCm39) |
E348* |
probably null |
Het |
Sfxn5 |
A |
G |
6: 85,244,889 (GRCm39) |
Y169H |
probably damaging |
Het |
Skint9 |
T |
C |
4: 112,246,428 (GRCm39) |
N228S |
probably benign |
Het |
Slx4ip |
A |
T |
2: 136,842,162 (GRCm39) |
D29V |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,573,180 (GRCm39) |
G474V |
probably damaging |
Het |
Spata6 |
T |
A |
4: 111,638,017 (GRCm39) |
D282E |
possibly damaging |
Het |
Srek1 |
A |
T |
13: 103,905,890 (GRCm39) |
V77E |
probably damaging |
Het |
Timd6 |
A |
G |
11: 46,468,285 (GRCm39) |
T120A |
possibly damaging |
Het |
Tmt1a3 |
T |
C |
15: 100,233,289 (GRCm39) |
V160A |
probably benign |
Het |
Tnfrsf22 |
T |
C |
7: 143,194,564 (GRCm39) |
D121G |
probably damaging |
Het |
Ucma |
G |
A |
2: 4,990,170 (GRCm39) |
W122* |
probably null |
Het |
Vmn2r124 |
T |
C |
17: 18,282,306 (GRCm39) |
M113T |
unknown |
Het |
Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
Vmn2r8 |
A |
G |
5: 108,948,442 (GRCm39) |
L482S |
probably benign |
Het |
Vwa3a |
T |
A |
7: 120,378,138 (GRCm39) |
I476N |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr26 |
A |
T |
1: 181,015,240 (GRCm39) |
S390R |
probably damaging |
Het |
Zbtb40 |
A |
T |
4: 136,728,205 (GRCm39) |
S471T |
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 |
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 |
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'- GTGGTTGCAGTCACCCTTTC -3'
(R):5'- AGACCCTTGGTTCTACTCCAG -3'
Sequencing Primer
(F):5'- GCAGTCACCCTTTCTCCTCAGG -3'
(R):5'- TGGCCCTCTTCAGAAAAGTG -3'
|
Posted On |
2019-10-07 |