Incidental Mutation 'IGL01480:Ccn3'
| ID |
88573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccn3
|
| Ensembl Gene |
ENSMUSG00000037362 |
| Gene Name |
cellular communication network factor 3 |
| Synonyms |
C130088N23Rik, CCN3, Nov |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL01480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
54609306-54617158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54615687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 284
(Y284C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050027]
|
| AlphaFold |
Q64299 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050027
AA Change: Y284C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: Y284C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
IB
|
27 |
98 |
8.2e-34 |
SMART |
|
VWC
|
104 |
167 |
6.08e-18 |
SMART |
|
low complexity region
|
172 |
181 |
N/A |
INTRINSIC |
|
TSP1
|
204 |
247 |
5.51e-7 |
SMART |
|
CT
|
266 |
335 |
1.18e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
T |
A |
12: 88,423,635 (GRCm39) |
C379* |
probably null |
Het |
| Ankrd10 |
A |
G |
8: 11,685,592 (GRCm39) |
V9A |
probably benign |
Het |
| Ankrd13a |
A |
T |
5: 114,938,879 (GRCm39) |
|
probably benign |
Het |
| Bbs1 |
T |
C |
19: 4,944,421 (GRCm39) |
K403E |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,629 (GRCm39) |
I95V |
probably null |
Het |
| Cyba |
T |
C |
8: 123,151,684 (GRCm39) |
E171G |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,349,197 (GRCm39) |
M2480L |
possibly damaging |
Het |
| Fxyd7 |
A |
T |
7: 30,746,799 (GRCm39) |
Y20* |
probably null |
Het |
| Il22ra1 |
T |
C |
4: 135,472,112 (GRCm39) |
V216A |
probably benign |
Het |
| Mapk10 |
G |
A |
5: 103,074,018 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
C |
A |
11: 116,869,278 (GRCm39) |
T607K |
probably benign |
Het |
| Optn |
G |
A |
2: 5,050,829 (GRCm39) |
S184L |
probably benign |
Het |
| Or10d5 |
G |
A |
9: 39,861,284 (GRCm39) |
A261V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,427 (GRCm39) |
I71L |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,978 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,321,078 (GRCm39) |
L462P |
possibly damaging |
Het |
| Prkca |
C |
T |
11: 108,083,027 (GRCm39) |
V73M |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,877,115 (GRCm39) |
F339L |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,279 (GRCm39) |
V1062A |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,949,110 (GRCm39) |
K354* |
probably null |
Het |
| Sf1 |
T |
C |
19: 6,422,052 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,606,451 (GRCm39) |
S112P |
probably benign |
Het |
| Tlr5 |
G |
A |
1: 182,801,064 (GRCm39) |
E123K |
probably benign |
Het |
| Tpp1 |
T |
C |
7: 105,398,260 (GRCm39) |
E301G |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,116 (GRCm39) |
I176F |
probably benign |
Het |
|
| Other mutations in Ccn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01315:Ccn3
|
APN |
15 |
54,612,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01727:Ccn3
|
APN |
15 |
54,609,634 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02027:Ccn3
|
APN |
15 |
54,611,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02690:Ccn3
|
APN |
15 |
54,611,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03089:Ccn3
|
APN |
15 |
54,612,680 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03229:Ccn3
|
APN |
15 |
54,612,704 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0556:Ccn3
|
UTSW |
15 |
54,612,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Ccn3
|
UTSW |
15 |
54,611,178 (GRCm39) |
nonsense |
probably null |
|
|
R1321:Ccn3
|
UTSW |
15 |
54,612,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Ccn3
|
UTSW |
15 |
54,612,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1994:Ccn3
|
UTSW |
15 |
54,612,750 (GRCm39) |
missense |
probably benign |
|
|
R2151:Ccn3
|
UTSW |
15 |
54,615,854 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4785:Ccn3
|
UTSW |
15 |
54,615,603 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5165:Ccn3
|
UTSW |
15 |
54,612,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5577:Ccn3
|
UTSW |
15 |
54,615,897 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6131:Ccn3
|
UTSW |
15 |
54,612,756 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6307:Ccn3
|
UTSW |
15 |
54,611,421 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6472:Ccn3
|
UTSW |
15 |
54,612,668 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6557:Ccn3
|
UTSW |
15 |
54,611,323 (GRCm39) |
nonsense |
probably null |
|
|
R7000:Ccn3
|
UTSW |
15 |
54,615,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7029:Ccn3
|
UTSW |
15 |
54,611,171 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7957:Ccn3
|
UTSW |
15 |
54,609,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9030:Ccn3
|
UTSW |
15 |
54,615,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Ccn3
|
UTSW |
15 |
54,609,717 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2013-11-18 |
Incidental Mutation