Incidental Mutation 'R6777:Dkk2'
| ID |
531329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dkk2
|
| Ensembl Gene |
ENSMUSG00000028031 |
| Gene Name |
dickkopf WNT signaling pathway inhibitor 2 |
| Synonyms |
|
| MMRRC Submission |
044893-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R6777 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
131791053-131886065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131879572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 84
(C84S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029665]
|
| AlphaFold |
Q9QYZ8 |
| PDB Structure |
A functional domain of a Wnt signal protein [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029665
AA Change: C84S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029665
Gene: ENSMUSG00000028031
AA Change: C84S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Dickkopf_N
|
77 |
128 |
6.4e-20 |
PFAM |
|
PDB:2JTK|A
|
172 |
259 |
5e-60 |
PDB |
|
| Meta Mutation Damage Score |
0.9254 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008]
PHENOTYPE: mice homozygous for a targeted disruption are osteopenic with defective mineralization of induced osteoblasts in culture. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
| Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
| Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
| Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
| Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
| Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
| Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
| Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
| Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
| Ralgps2 |
A |
G |
1: 156,715,515 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
| Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
| Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
| Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
| Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
| Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
probably damaging |
Het |
|
| Other mutations in Dkk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00596:Dkk2
|
APN |
3 |
131,879,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Dkk2
|
APN |
3 |
131,883,673 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02358:Dkk2
|
APN |
3 |
131,883,673 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02942:Dkk2
|
APN |
3 |
131,883,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03128:Dkk2
|
APN |
3 |
131,883,621 (GRCm39) |
splice site |
probably benign |
|
|
IGL03367:Dkk2
|
APN |
3 |
131,883,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Dkk2
|
UTSW |
3 |
131,791,858 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3087:Dkk2
|
UTSW |
3 |
131,791,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Dkk2
|
UTSW |
3 |
131,879,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6855:Dkk2
|
UTSW |
3 |
131,883,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Dkk2
|
UTSW |
3 |
131,880,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7013:Dkk2
|
UTSW |
3 |
131,880,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Dkk2
|
UTSW |
3 |
131,791,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Dkk2
|
UTSW |
3 |
131,880,790 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7662:Dkk2
|
UTSW |
3 |
131,883,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7736:Dkk2
|
UTSW |
3 |
131,883,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Dkk2
|
UTSW |
3 |
131,791,801 (GRCm39) |
missense |
probably benign |
|
|
R8159:Dkk2
|
UTSW |
3 |
131,880,739 (GRCm39) |
missense |
probably benign |
0.15 |
|
RF008:Dkk2
|
UTSW |
3 |
131,883,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAATGTTCAGAACTGCATGC -3'
(R):5'- ACCTAAGGTTTGGAAGGTGAC -3'
Sequencing Primer
(F):5'- CAGTGGTGTATCTCATTCAGGCAC -3'
(R):5'- GGTGACTCTGGTATCTCATAGTATAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation