Incidental Mutation 'R5409:Ccn5'
| ID |
426435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccn5
|
| Ensembl Gene |
ENSMUSG00000027656 |
| Gene Name |
cellular communication network factor 5 |
| Synonyms |
CCN5, Wisp2, Crgr4, rCop1 |
| MMRRC Submission |
042978-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5409 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
163662781-163675066 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 163667158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 53
(C53Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029188]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029188
AA Change: C53Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029188
Gene: ENSMUSG00000027656
AA Change: C53Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IB
|
24 |
93 |
1.67e-16 |
SMART |
|
VWC
|
100 |
163 |
5.9e-16 |
SMART |
|
TSP1
|
195 |
239 |
9.68e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138730
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viabe and overtly normal with no adult bone phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,850,154 (GRCm39) |
L2002P |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,656,371 (GRCm39) |
T230A |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,005,941 (GRCm39) |
E316G |
probably damaging |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
G |
2: 172,209,036 (GRCm39) |
Q33P |
possibly damaging |
Het |
| Cenpm |
T |
C |
15: 82,118,564 (GRCm39) |
T153A |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,622,452 (GRCm39) |
K538* |
probably null |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Col5a1 |
C |
T |
2: 27,850,457 (GRCm39) |
T518I |
unknown |
Het |
| Dis3 |
A |
T |
14: 99,323,368 (GRCm39) |
M566K |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,985,212 (GRCm39) |
R3869H |
probably damaging |
Het |
| Gm4775 |
A |
T |
14: 106,338,386 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk2 |
C |
T |
6: 38,706,977 (GRCm39) |
G637D |
probably damaging |
Het |
| Igkv4-61 |
T |
C |
6: 69,394,111 (GRCm39) |
K18E |
possibly damaging |
Het |
| Kcnk4 |
A |
G |
19: 6,903,578 (GRCm39) |
S324P |
probably benign |
Het |
| Larp4 |
T |
C |
15: 99,883,945 (GRCm39) |
C61R |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,856,030 (GRCm39) |
F986L |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,021,920 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,214 (GRCm39) |
E88G |
possibly damaging |
Het |
| Or5h22 |
C |
T |
16: 58,894,559 (GRCm39) |
V295I |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,098,619 (GRCm39) |
I359F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,893,906 (GRCm39) |
|
probably null |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,303 (GRCm39) |
S493T |
possibly damaging |
Het |
| Rnf7l |
A |
T |
10: 63,257,403 (GRCm39) |
M39K |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,268,070 (GRCm39) |
S1219P |
probably benign |
Het |
| Rprd1b |
T |
A |
2: 157,916,987 (GRCm39) |
F322L |
probably damaging |
Het |
| Sh3rf1 |
G |
A |
8: 61,827,279 (GRCm39) |
V678M |
probably benign |
Het |
| Smpd5 |
C |
A |
15: 76,179,914 (GRCm39) |
T321K |
probably damaging |
Het |
| Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,758,311 (GRCm39) |
C691R |
possibly damaging |
Het |
| Tnc |
A |
C |
4: 63,884,773 (GRCm39) |
M1834R |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,925,654 (GRCm39) |
Y961N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,700,893 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,280,706 (GRCm39) |
V47A |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,485,672 (GRCm39) |
D1676V |
possibly damaging |
Het |
| Vmn1r65 |
T |
C |
7: 6,012,012 (GRCm39) |
N74S |
possibly damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
|
| Other mutations in Ccn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01447:Ccn5
|
APN |
2 |
163,670,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Ccn5
|
UTSW |
2 |
163,670,961 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
BB012:Ccn5
|
UTSW |
2 |
163,670,961 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0336:Ccn5
|
UTSW |
2 |
163,674,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0600:Ccn5
|
UTSW |
2 |
163,667,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Ccn5
|
UTSW |
2 |
163,670,997 (GRCm39) |
missense |
unknown |
|
|
R1779:Ccn5
|
UTSW |
2 |
163,670,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2921:Ccn5
|
UTSW |
2 |
163,674,266 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2923:Ccn5
|
UTSW |
2 |
163,674,266 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4049:Ccn5
|
UTSW |
2 |
163,670,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4344:Ccn5
|
UTSW |
2 |
163,670,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5529:Ccn5
|
UTSW |
2 |
163,667,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5663:Ccn5
|
UTSW |
2 |
163,667,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6401:Ccn5
|
UTSW |
2 |
163,670,946 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6685:Ccn5
|
UTSW |
2 |
163,670,868 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7242:Ccn5
|
UTSW |
2 |
163,670,772 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7925:Ccn5
|
UTSW |
2 |
163,670,961 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8066:Ccn5
|
UTSW |
2 |
163,670,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Ccn5
|
UTSW |
2 |
163,670,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Ccn5
|
UTSW |
2 |
163,667,160 (GRCm39) |
nonsense |
probably null |
|
|
R9215:Ccn5
|
UTSW |
2 |
163,670,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9656:Ccn5
|
UTSW |
2 |
163,670,985 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGGATCCCACACTGTCTGG -3'
(R):5'- ATTTTGTCTCTGGATCCCATGG -3'
Sequencing Primer
(F):5'- CCACACTGTCTGGTTTGGCAG -3'
(R):5'- TGGATCCCATGGCCTTGAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation