Incidental Mutation 'IGL02027:Ccn2'
| ID |
184198 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccn2
|
| Ensembl Gene |
ENSMUSG00000019997 |
| Gene Name |
cellular communication network factor 2 |
| Synonyms |
Ccn2, Fisp12, hypertrophic chondrocyte-specific gene product 24, Ctgf, Hcs24 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
24471340-24474581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24472307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 117
(S117G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020171]
[ENSMUST00000129142]
[ENSMUST00000176228]
|
| AlphaFold |
P29268 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020171
AA Change: S117G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020171
Gene: ENSMUSG00000019997
AA Change: S117G
| Domain | Start | End | E-Value | Type |
|---|
|
IB
|
26 |
96 |
1.45e-25 |
SMART |
|
VWC
|
102 |
165 |
8.52e-22 |
SMART |
|
TSP1
|
199 |
242 |
7.27e-7 |
SMART |
|
CT
|
260 |
329 |
1.17e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129142
|
| SMART Domains |
Protein: ENSMUSP00000135212
Gene: ENSMUSG00000019997
| Domain | Start | End | E-Value | Type |
|---|
|
IB
|
3 |
73 |
1.45e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141076
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176228
AA Change: S117G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135147
Gene: ENSMUSG00000019997
AA Change: S117G
| Domain | Start | End | E-Value | Type |
|---|
|
IB
|
26 |
96 |
1.45e-25 |
SMART |
|
VWC
|
102 |
165 |
8.52e-22 |
SMART |
|
TSP1
|
199 |
242 |
7.27e-7 |
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 mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice die at birth from respiratory failure due to axial skeletal defects and pulmonary hypoplasia associated with reduced cell proliferation, enhanced apoptosis and altered pneumocyte maturation. Osteogenesis is impaired due to impaired chondrogenesis and growth plate angiogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
A |
G |
1: 134,358,923 (GRCm39) |
T312A |
probably benign |
Het |
| Begain |
T |
G |
12: 109,000,235 (GRCm39) |
K384Q |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,099,763 (GRCm39) |
I393V |
probably benign |
Het |
| Catsperz |
A |
G |
19: 6,902,664 (GRCm39) |
V5A |
probably benign |
Het |
| Cbx1 |
T |
A |
11: 96,692,315 (GRCm39) |
F67L |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,330 (GRCm39) |
V155A |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,171,630 (GRCm39) |
|
probably benign |
Het |
| Cubn |
G |
T |
2: 13,292,405 (GRCm39) |
D3259E |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,600 (GRCm39) |
Y307H |
probably damaging |
Het |
| Dcaf6 |
A |
C |
1: 165,251,910 (GRCm39) |
D71E |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,296,911 (GRCm39) |
K152* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,774,629 (GRCm39) |
D68N |
probably damaging |
Het |
| Gm6576 |
A |
G |
15: 27,025,952 (GRCm39) |
|
noncoding transcript |
Het |
| Has2 |
T |
C |
15: 56,531,567 (GRCm39) |
T383A |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,684 (GRCm39) |
K203* |
probably null |
Het |
| Il36g |
A |
T |
2: 24,082,797 (GRCm39) |
I191L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,994,649 (GRCm39) |
I116T |
possibly damaging |
Het |
| Itga1 |
C |
T |
13: 115,126,591 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,209,089 (GRCm39) |
D891G |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,665,229 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
A |
G |
18: 12,649,570 (GRCm39) |
K1776E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,588,712 (GRCm39) |
S1110P |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,557,919 (GRCm39) |
K158* |
probably null |
Het |
| Lrrc9 |
T |
A |
12: 72,517,108 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,563,726 (GRCm39) |
|
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,272,955 (GRCm39) |
Y105C |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,446,638 (GRCm39) |
E1151G |
probably damaging |
Het |
| Nptx1 |
T |
C |
11: 119,435,422 (GRCm39) |
D298G |
possibly damaging |
Het |
| Odad4 |
C |
T |
11: 100,460,728 (GRCm39) |
T495M |
probably damaging |
Het |
| Pdlim1 |
T |
C |
19: 40,231,910 (GRCm39) |
N156S |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,989 (GRCm39) |
|
probably benign |
Het |
| Pex5 |
A |
G |
6: 124,375,847 (GRCm39) |
S448P |
probably benign |
Het |
| Polr3e |
G |
T |
7: 120,530,186 (GRCm39) |
R124L |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,816 (GRCm39) |
R392C |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,073,554 (GRCm39) |
I543T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,991,302 (GRCm39) |
S305G |
possibly damaging |
Het |
| Repin1 |
A |
G |
6: 48,573,407 (GRCm39) |
H56R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,611,998 (GRCm39) |
L408H |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 110,060,348 (GRCm39) |
Q205H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,863 (GRCm39) |
P990S |
probably benign |
Het |
| Slc33a1 |
G |
T |
3: 63,855,562 (GRCm39) |
P361Q |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,706,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,044 (GRCm39) |
T193A |
possibly damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,640 (GRCm39) |
I105K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,387,462 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ccn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02994:Ccn2
|
APN |
10 |
24,472,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Ccn2
|
UTSW |
10 |
24,471,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0443:Ccn2
|
UTSW |
10 |
24,471,701 (GRCm39) |
splice site |
probably benign |
|
|
R0496:Ccn2
|
UTSW |
10 |
24,473,413 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0538:Ccn2
|
UTSW |
10 |
24,472,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Ccn2
|
UTSW |
10 |
24,473,297 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1721:Ccn2
|
UTSW |
10 |
24,472,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Ccn2
|
UTSW |
10 |
24,472,377 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2230:Ccn2
|
UTSW |
10 |
24,472,371 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2322:Ccn2
|
UTSW |
10 |
24,472,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Ccn2
|
UTSW |
10 |
24,473,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Ccn2
|
UTSW |
10 |
24,473,354 (GRCm39) |
missense |
probably benign |
|
|
R6705:Ccn2
|
UTSW |
10 |
24,471,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7067:Ccn2
|
UTSW |
10 |
24,472,873 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7427:Ccn2
|
UTSW |
10 |
24,473,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8559:Ccn2
|
UTSW |
10 |
24,471,966 (GRCm39) |
frame shift |
probably null |
|
|
R9036:Ccn2
|
UTSW |
10 |
24,472,647 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9223:Ccn2
|
UTSW |
10 |
24,471,856 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9375:Ccn2
|
UTSW |
10 |
24,473,501 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9383:Ccn2
|
UTSW |
10 |
24,471,883 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9727:Ccn2
|
UTSW |
10 |
24,471,820 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation