Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02942:Dkk2'

364551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dkk2

Ensembl Gene

ENSMUSG00000028031

Gene Name

dickkopf WNT signaling pathway inhibitor 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

IGL02942

Quality Score

Status

Chromosome

Chromosomal Location

131791053-131886065 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131883798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 233 (C233S)

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: C233S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029665
Gene: ENSMUSG00000028031
AA Change: C233S

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	C	15: 91,033,378 (GRCm39)	D679E	probably damaging	Het
Adh6a	A	T	3: 138,030,642 (GRCm39)	D88V	probably damaging	Het
Ank3	G	A	10: 69,809,707 (GRCm39)	V1123I	probably damaging	Het
Apba1	T	C	19: 23,922,335 (GRCm39)	V801A	possibly damaging	Het
Bcl2a1a	C	T	9: 88,839,095 (GRCm39)		probably benign	Het
Brd8	A	G	18: 34,743,680 (GRCm39)	V215A	possibly damaging	Het
Cdk17	G	A	10: 93,074,830 (GRCm39)	V454I	probably benign	Het
Chd5	G	A	4: 152,470,182 (GRCm39)	G1876D	probably damaging	Het
Clec4g	T	C	8: 3,768,356 (GRCm39)	E125G	probably damaging	Het
Col24a1	G	A	3: 145,247,420 (GRCm39)	G1602D	probably damaging	Het
Depdc7	A	C	2: 104,558,439 (GRCm39)	L194R	probably damaging	Het
Dgke	T	G	11: 88,946,195 (GRCm39)	N202H	probably benign	Het
Dmpk	A	C	7: 18,826,166 (GRCm39)	D542A	probably damaging	Het
Epb41l4a	G	A	18: 34,007,254 (GRCm39)	R246W	probably damaging	Het
Frmpd1	A	T	4: 45,285,493 (GRCm39)	Q1438L	probably damaging	Het
Gcgr	A	G	11: 120,427,643 (GRCm39)		probably null	Het
Gm10295	T	C	7: 71,000,250 (GRCm39)	K110R	unknown	Het
Ifrd1	A	G	12: 40,267,375 (GRCm39)		probably null	Het
Inpp5f	A	G	7: 128,296,624 (GRCm39)	T365A	probably benign	Het
Kcnn3	A	G	3: 89,559,383 (GRCm39)	K551R	probably benign	Het
Lama2	A	T	10: 26,917,216 (GRCm39)	N2236K	probably damaging	Het
Larp7	A	T	3: 127,337,844 (GRCm39)	I405N	possibly damaging	Het
Meltf	C	A	16: 31,709,596 (GRCm39)	Y432*	probably null	Het
Mst1r	C	A	9: 107,790,352 (GRCm39)	T655K	possibly damaging	Het
Myh1	C	T	11: 67,093,308 (GRCm39)	P133L	probably damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or52r1c	A	T	7: 102,735,405 (GRCm39)	M222L	probably benign	Het
Or5b102	A	T	19: 13,041,552 (GRCm39)	Q259L	probably benign	Het
Or6a2	A	G	7: 106,600,561 (GRCm39)	S169P	possibly damaging	Het
Pfkl	A	T	10: 77,835,967 (GRCm39)		probably null	Het
Plekhb2	T	C	1: 34,916,073 (GRCm39)	M204T	probably damaging	Het
Ptp4a2	G	A	4: 129,738,986 (GRCm39)		probably null	Het
Rtp4	A	G	16: 23,431,704 (GRCm39)	T79A	probably benign	Het
Senp3	T	C	11: 69,568,815 (GRCm39)	D410G	probably benign	Het
Slc16a5	T	C	11: 115,360,176 (GRCm39)	F120L	possibly damaging	Het
Snrpe	T	C	1: 133,536,669 (GRCm39)	E37G	probably damaging	Het
Sorcs1	T	C	19: 50,463,875 (GRCm39)	T192A	probably damaging	Het
Spef2	T	A	15: 9,668,960 (GRCm39)	H742L	possibly damaging	Het
Syt12	T	C	19: 4,497,858 (GRCm39)	S375G	probably benign	Het
Tas2r117	T	C	6: 132,780,657 (GRCm39)	L265P	probably benign	Het
Tcp10a	T	A	17: 7,597,318 (GRCm39)	D158E	probably damaging	Het
Tesk2	A	T	4: 116,629,017 (GRCm39)	H122L	probably damaging	Het
Tut7	T	G	13: 59,959,335 (GRCm39)	N378H	probably damaging	Het
Unc93b1	T	A	19: 3,998,686 (GRCm39)	M535K	probably damaging	Het
Vangl1	C	A	3: 102,091,347 (GRCm39)	R246S	probably damaging	Het
Xpo5	C	T	17: 46,519,059 (GRCm39)	T166I	probably damaging	Het
Zmiz2	T	C	11: 6,349,500 (GRCm39)		probably benign	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
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
R6777:Dkk2	UTSW	3	131,879,572 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-12-18