Incidental Mutation 'R0219:Ncan'
| ID |
33731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncan
|
| Ensembl Gene |
ENSMUSG00000002341 |
| Gene Name |
neurocan |
| Synonyms |
Cspg3-rs, Tgfbit, Cspg3 |
| MMRRC Submission |
038468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70545735-70573494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70567984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 43
(S43P)
|
| 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: S43P
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: S43P
| 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 |
0.1423 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.3%
|
| Validation Efficiency |
98% (65/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,849,885 (GRCm39) |
|
probably benign |
Het |
| Acacb |
T |
A |
5: 114,371,005 (GRCm39) |
M1749K |
possibly damaging |
Het |
| Aff1 |
GCTCTCTCTC |
GCTCTCTCTCTC |
5: 103,958,906 (GRCm39) |
|
probably benign |
Het |
| Ankle2 |
C |
T |
5: 110,399,511 (GRCm39) |
R624* |
probably null |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,446,640 (GRCm39) |
|
probably benign |
Het |
| Ccdc116 |
T |
A |
16: 16,959,476 (GRCm39) |
R404S |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,614,678 (GRCm39) |
|
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,916,846 (GRCm39) |
K534R |
probably damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,348 (GRCm39) |
I112V |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,801,558 (GRCm39) |
L795R |
possibly damaging |
Het |
| Cilp |
C |
A |
9: 65,176,872 (GRCm39) |
L43I |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,976 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
C |
A |
1: 136,360,047 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,865,996 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,658,384 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,342,559 (GRCm39) |
S5030A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,106,443 (GRCm39) |
|
probably benign |
Het |
| Farp1 |
C |
A |
14: 121,481,012 (GRCm39) |
P471Q |
possibly damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fcer1g |
A |
G |
1: 171,058,795 (GRCm39) |
V31A |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,717,618 (GRCm39) |
V21A |
probably benign |
Het |
| Gm9912 |
T |
C |
3: 148,891,131 (GRCm39) |
I1V |
unknown |
Het |
| Guf1 |
G |
A |
5: 69,716,929 (GRCm39) |
A164T |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,876 (GRCm39) |
H147R |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,474 (GRCm39) |
|
probably benign |
Het |
| Iglon5 |
A |
T |
7: 43,126,261 (GRCm39) |
V214E |
probably damaging |
Het |
| Isx |
C |
A |
8: 75,616,589 (GRCm39) |
|
probably null |
Het |
| Kank4 |
T |
C |
4: 98,666,702 (GRCm39) |
N582D |
probably benign |
Het |
| Kcp |
T |
A |
6: 29,495,784 (GRCm39) |
R773W |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,291,857 (GRCm39) |
C825R |
probably damaging |
Het |
| Krt25 |
G |
A |
11: 99,208,885 (GRCm39) |
T315M |
probably benign |
Het |
| Lrp5 |
A |
T |
19: 3,647,349 (GRCm39) |
S1298T |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,356,156 (GRCm39) |
D921G |
probably damaging |
Het |
| Mrgprx1 |
C |
A |
7: 47,671,294 (GRCm39) |
W151L |
probably damaging |
Het |
| Mylk3 |
T |
A |
8: 86,081,873 (GRCm39) |
D375V |
probably damaging |
Het |
| Nav3 |
C |
T |
10: 109,702,791 (GRCm39) |
|
probably null |
Het |
| Necab3 |
G |
T |
2: 154,388,013 (GRCm39) |
Q292K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,484,950 (GRCm39) |
S148P |
probably damaging |
Het |
| Or2at4 |
A |
T |
7: 99,385,135 (GRCm39) |
I262L |
probably benign |
Het |
| Or6p1 |
G |
A |
1: 174,258,032 (GRCm39) |
V13I |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,419,006 (GRCm39) |
E794G |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,980,964 (GRCm39) |
Y133C |
possibly damaging |
Het |
| Rad21l |
A |
G |
2: 151,496,508 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
T |
11: 119,712,603 (GRCm39) |
|
probably benign |
Het |
| Sart1 |
C |
A |
19: 5,438,424 (GRCm39) |
A78S |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,051,486 (GRCm39) |
E191G |
probably benign |
Het |
| Slc6a18 |
A |
T |
13: 73,822,751 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
T |
C |
10: 9,646,272 (GRCm39) |
T147A |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,807,015 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,088,778 (GRCm39) |
K5045N |
probably damaging |
Het |
| Tmem174 |
A |
C |
13: 98,773,347 (GRCm39) |
M161R |
possibly damaging |
Het |
| Tmprss7 |
A |
G |
16: 45,476,820 (GRCm39) |
V814A |
probably damaging |
Het |
| Togaram2 |
T |
C |
17: 72,021,225 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
C |
1: 150,319,009 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,572 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,157,568 (GRCm39) |
L2375Q |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,600,537 (GRCm39) |
E1987G |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,560,195 (GRCm39) |
T1365A |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,072 (GRCm39) |
Y128* |
probably null |
Het |
| Vmn2r5 |
A |
G |
3: 64,411,734 (GRCm39) |
V278A |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,832,479 (GRCm39) |
S2809N |
probably benign |
Het |
| Zfp212 |
G |
A |
6: 47,903,619 (GRCm39) |
R68H |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,253,160 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,211,255 (GRCm39) |
S185G |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,831,508 (GRCm39) |
|
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 |
|
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 |
|
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'- ACCAAGATTGGCAAATCCTGTCGC -3'
(R):5'- AGAACCATGAATGGTCCCTTTGCAC -3'
Sequencing Primer
(F):5'- AAATCCTGTCGCTGGCCTG -3'
(R):5'- tggggaggcagaggcag -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation