Incidental Mutation 'R6472:Ccn3'
| ID |
516395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn3
|
| Ensembl Gene |
ENSMUSG00000037362 |
| Gene Name |
cellular communication network factor 3 |
| Synonyms |
C130088N23Rik, CCN3, Nov |
| MMRRC Submission |
044605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
54609306-54617158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54612668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 226
(T226S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050027]
|
| AlphaFold |
Q64299 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050027
AA Change: T226S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: T226S
| 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 |
0.0667 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (30/30) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,852,891 (GRCm39) |
S82T |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,085,991 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,596,783 (GRCm39) |
Y1238H |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,823,491 (GRCm39) |
T334A |
probably damaging |
Het |
| Csrp3 |
G |
A |
7: 48,485,356 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| Fads6 |
T |
C |
11: 115,176,962 (GRCm39) |
T165A |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,975 (GRCm39) |
S566P |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,180,463 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
A |
G |
13: 12,449,111 (GRCm39) |
D1897G |
probably benign |
Het |
| Il2ra |
G |
A |
2: 11,686,780 (GRCm39) |
E204K |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,541,868 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,257,273 (GRCm39) |
D230N |
probably benign |
Het |
| Or2a20 |
A |
G |
6: 43,194,293 (GRCm39) |
I149V |
probably benign |
Het |
| Or2aa1 |
G |
A |
11: 59,480,582 (GRCm39) |
T111I |
probably benign |
Het |
| Or7g22 |
T |
A |
9: 19,048,711 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,534 (GRCm39) |
L184* |
probably null |
Het |
| Pappa2 |
T |
C |
1: 158,662,369 (GRCm39) |
D1202G |
probably damaging |
Het |
| Pcp4l1 |
A |
T |
1: 171,002,004 (GRCm39) |
I52N |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,846,067 (GRCm39) |
W665* |
probably null |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,910,221 (GRCm39) |
K93R |
possibly damaging |
Het |
| Syt10 |
T |
G |
15: 89,698,761 (GRCm39) |
E194D |
probably benign |
Het |
| Tmem163 |
A |
C |
1: 127,423,471 (GRCm39) |
F264V |
probably benign |
Het |
| Trav3-1 |
G |
T |
14: 52,818,507 (GRCm39) |
E60D |
possibly damaging |
Het |
| Vmn1r237 |
G |
A |
17: 21,534,616 (GRCm39) |
S113N |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,246,610 (GRCm39) |
S651P |
possibly damaging |
Het |
| Wnt3 |
G |
A |
11: 103,699,100 (GRCm39) |
V69I |
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 |
|
|
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 |
|
|
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'- TGCTGTGTTCTGCAAAACTGG -3'
(R):5'- TCAGCTAGTGTGACAGTGACTTTC -3'
Sequencing Primer
(F):5'- GTTCTGCAAAACTGGTATATATCAGC -3'
(R):5'- GACAGTGACTTTCTAGAGGCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation