Incidental Mutation 'R1321:Ccn3'
| ID |
157696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn3
|
| Ensembl Gene |
ENSMUSG00000037362 |
| Gene Name |
cellular communication network factor 3 |
| Synonyms |
C130088N23Rik, CCN3, Nov |
| MMRRC Submission |
039387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1321 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
54609306-54617158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54612642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 217
(C217F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050027]
|
| AlphaFold |
Q64299 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050027
AA Change: C217F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: C217F
| 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 |
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
| Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
| Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
| Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
| Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
| Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
| P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
| Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGAAATCCTACATTGTGCCCTACC -3'
(R):5'- GCTCTTTGTTTGGGTTAATGCCCAC -3'
Sequencing Primer
(F):5'- TGCCCTACCTATTAAGGGATTG -3'
(R):5'- TCAGCTAGTGTGACAGTGAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation