Incidental Mutation 'IGL02351:Dkk2'
ID289473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkk2
Ensembl Gene ENSMUSG00000028031
Gene Namedickkopf WNT signaling pathway inhibitor 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #IGL02351
Quality Score
Status
Chromosome3
Chromosomal Location132085292-132180304 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132177912 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 191 (D191G)
Ref Sequence ENSEMBL: ENSMUSP00000029665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029665]
PDB Structure
A functional domain of a Wnt signal protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000029665
AA Change: D191G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029665
Gene: ENSMUSG00000028031
AA Change: D191G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Dickkopf_N 77 128 6.4e-20 PFAM
PDB:2JTK|A 172 259 5e-60 PDB
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Dkk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Dkk2 APN 3 132173803 missense probably damaging 1.00
IGL02358:Dkk2 APN 3 132177912 missense probably benign 0.03
IGL02942:Dkk2 APN 3 132178037 missense probably damaging 1.00
IGL03128:Dkk2 APN 3 132177860 splice site probably benign
IGL03367:Dkk2 APN 3 132178077 missense probably damaging 1.00
R2096:Dkk2 UTSW 3 132086097 missense probably benign 0.34
R3087:Dkk2 UTSW 3 132086139 missense probably damaging 1.00
R4815:Dkk2 UTSW 3 132173785 missense probably benign 0.00
R6777:Dkk2 UTSW 3 132173811 missense probably damaging 1.00
R6855:Dkk2 UTSW 3 132177922 missense probably damaging 1.00
R6901:Dkk2 UTSW 3 132175126 critical splice donor site probably null
R7013:Dkk2 UTSW 3 132174999 missense probably damaging 1.00
R7180:Dkk2 UTSW 3 132086192 missense probably damaging 1.00
R7459:Dkk2 UTSW 3 132175029 missense probably benign 0.09
R7662:Dkk2 UTSW 3 132177868 critical splice acceptor site probably null
R7736:Dkk2 UTSW 3 132178014 missense probably damaging 1.00
R8094:Dkk2 UTSW 3 132086040 missense probably benign
R8159:Dkk2 UTSW 3 132174978 missense probably benign 0.15
RF008:Dkk2 UTSW 3 132178102 missense probably damaging 1.00
Posted On2015-04-16