Incidental Mutation 'R6557:Ccn3'
| ID |
521923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn3
|
| Ensembl Gene |
ENSMUSG00000037362 |
| Gene Name |
cellular communication network factor 3 |
| Synonyms |
C130088N23Rik, CCN3, Nov |
| MMRRC Submission |
044681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
54609306-54617158 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 54611323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 153
(R153*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050027]
|
| AlphaFold |
Q64299 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050027
AA Change: R153*
|
| SMART Domains |
Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: R153*
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cxcl15 |
C |
T |
5: 90,942,425 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,163,366 (GRCm39) |
D1580G |
probably damaging |
Het |
| Gpc5 |
A |
T |
14: 115,329,966 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,760,384 (GRCm39) |
I575V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,491,231 (GRCm39) |
E174G |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,573 (GRCm39) |
D300G |
possibly damaging |
Het |
| Ica1l |
T |
C |
1: 60,036,784 (GRCm39) |
T336A |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,407,707 (GRCm39) |
A45T |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,875,956 (GRCm39) |
S483G |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,365,599 (GRCm39) |
L1394P |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,802,670 (GRCm39) |
E133V |
possibly damaging |
Het |
| Mamdc2 |
A |
G |
19: 23,288,209 (GRCm39) |
S610P |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,396,991 (GRCm39) |
V128A |
probably damaging |
Het |
| Mon2 |
C |
A |
10: 122,852,307 (GRCm39) |
C1022F |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,845,986 (GRCm39) |
S1039P |
probably benign |
Het |
| Or4f52 |
T |
C |
2: 111,061,976 (GRCm39) |
H54R |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,458,134 (GRCm39) |
N879S |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,136,736 (GRCm39) |
Y490H |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,128,291 (GRCm39) |
K137R |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,577,960 (GRCm39) |
N290S |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,907,092 (GRCm39) |
P419Q |
probably damaging |
Het |
| Zzz3 |
T |
A |
3: 152,134,097 (GRCm39) |
L385Q |
probably damaging |
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 |
|
IGL01480:Ccn3
|
APN |
15 |
54,615,687 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTTCCAGTTGAATTACACG -3'
(R):5'- GCGCCTCATCTTAAATCCCAG -3'
Sequencing Primer
(F):5'- CTGCCTGAATATTCTAGTTCCAGAGG -3'
(R):5'- AGAGTCACACCTGCATTGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation