Incidental Mutation 'R4925:Ncan'
| ID |
378963 |
| 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 # |
R4925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70545735-70573494 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70562604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 551
(D551E)
|
| 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: D551E
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000002412
Gene: ENSMUSG00000002341
AA Change: D551E
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
A |
11: 58,316,540 (GRCm39) |
C173* |
probably null |
Het |
| 3425401B19Rik |
T |
A |
14: 32,385,137 (GRCm39) |
H276L |
possibly damaging |
Het |
| Adam21 |
T |
G |
12: 81,607,163 (GRCm39) |
M200L |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,182 (GRCm39) |
S974T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,251,507 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
G |
3: 89,853,930 (GRCm39) |
|
probably null |
Het |
| Brd8 |
T |
C |
18: 34,740,388 (GRCm39) |
T552A |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,988,733 (GRCm39) |
S1826G |
probably benign |
Het |
| Ccdc163 |
A |
G |
4: 116,568,528 (GRCm39) |
E77G |
possibly damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,526 (GRCm39) |
R194G |
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,836,726 (GRCm39) |
|
probably null |
Het |
| Cln8 |
A |
G |
8: 14,945,004 (GRCm39) |
H106R |
possibly damaging |
Het |
| Col12a1 |
T |
G |
9: 79,582,077 (GRCm39) |
L1391F |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,969 (GRCm39) |
D230N |
probably damaging |
Het |
| Crhbp |
C |
A |
13: 95,580,318 (GRCm39) |
G87V |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,389,644 (GRCm39) |
M240I |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,353,133 (GRCm39) |
W60R |
possibly damaging |
Het |
| Fam47e |
A |
G |
5: 92,733,149 (GRCm39) |
Y304C |
probably damaging |
Het |
| Fgfbp1 |
A |
T |
5: 44,136,634 (GRCm39) |
D219E |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,787,002 (GRCm39) |
Y485N |
probably damaging |
Het |
| Fhdc1 |
C |
T |
3: 84,360,840 (GRCm39) |
V363M |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,667,437 (GRCm39) |
E31V |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,605 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ghrl |
T |
C |
6: 113,693,218 (GRCm39) |
D77G |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,835,977 (GRCm39) |
V309A |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,731,472 (GRCm39) |
Y1622C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,447 (GRCm39) |
M1555K |
possibly damaging |
Het |
| Grin2a |
T |
A |
16: 9,487,687 (GRCm39) |
N404Y |
probably damaging |
Het |
| Gtpbp1 |
A |
C |
15: 79,600,169 (GRCm39) |
I399L |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,460,753 (GRCm39) |
S911P |
possibly damaging |
Het |
| Igkc |
A |
T |
6: 70,703,520 (GRCm39) |
K34* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqgap1 |
T |
A |
7: 80,415,065 (GRCm39) |
I149F |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,101,309 (GRCm39) |
A1934V |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,944 (GRCm39) |
E1415* |
probably null |
Het |
| Lypd8l |
T |
A |
11: 58,501,513 (GRCm39) |
T157S |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,420,445 (GRCm39) |
C270G |
probably benign |
Het |
| Marveld3 |
A |
G |
8: 110,674,943 (GRCm39) |
V291A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,786,645 (GRCm39) |
F917S |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,998 (GRCm39) |
I9N |
possibly damaging |
Het |
| Or4x6 |
T |
A |
2: 89,949,121 (GRCm39) |
T274S |
probably damaging |
Het |
| Or52h2 |
T |
C |
7: 103,839,387 (GRCm39) |
Y9C |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,672,467 (GRCm39) |
W34R |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,363 (GRCm39) |
F529S |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,048,961 (GRCm39) |
K273E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,922,846 (GRCm39) |
D215V |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,104,502 (GRCm39) |
M1K |
probably null |
Het |
| Prdm1 |
T |
A |
10: 44,316,165 (GRCm39) |
Y690F |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,329,570 (GRCm39) |
D124V |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,027,235 (GRCm39) |
D538Y |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,303,505 (GRCm39) |
V21M |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,688,023 (GRCm39) |
Y657F |
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,617,836 (GRCm39) |
C360R |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,374,363 (GRCm39) |
T257A |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,443,219 (GRCm39) |
M6K |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,113,849 (GRCm39) |
Y429H |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Taar3 |
T |
A |
10: 23,826,441 (GRCm39) |
F329Y |
probably damaging |
Het |
| Tardbp |
A |
T |
4: 148,703,108 (GRCm39) |
N285K |
probably benign |
Het |
| Tcstv7b |
A |
G |
13: 120,702,384 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tnni2 |
A |
T |
7: 141,996,430 (GRCm39) |
E4V |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,776,654 (GRCm39) |
I454F |
probably damaging |
Het |
| Tpr |
T |
G |
1: 150,308,316 (GRCm39) |
H1690Q |
probably benign |
Het |
| Trav18 |
T |
C |
14: 54,068,577 (GRCm39) |
S6P |
probably benign |
Het |
| Trf |
T |
C |
9: 103,096,445 (GRCm39) |
N25S |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,115 (GRCm39) |
N215S |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,892 (GRCm39) |
M1V |
probably null |
Het |
| Wdr64 |
T |
C |
1: 175,552,268 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
T |
C |
7: 80,542,943 (GRCm39) |
S222G |
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 |
|
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'- CTCAGTCACATGCATTTACACC -3'
(R):5'- ATGGTCGACACTTCCAGCAG -3'
Sequencing Primer
(F):5'- CACATTGCACTTAGTCACATGG -3'
(R):5'- ACACTTCCAGCAGCAGGG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation