Mutagenetix > Incidental Mutation

Incidental Mutation 'R6855:Dkk2'

535182

Institutional Source

Beutler Lab

Gene Symbol

Dkk2

Ensembl Gene

ENSMUSG00000028031

Gene Name

dickkopf WNT signaling pathway inhibitor 2

Synonyms

MMRRC Submission

045024-MU

Accession Numbers

Essential gene?

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

Stock #

R6855 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131791053-131886065 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 131883683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 194 (C194W)

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: C194W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029665
Gene: ENSMUSG00000028031
AA Change: C194W

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (57/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,114,844 (GRCm39)	S228F	probably damaging	Het
Cdh23	A	T	10: 60,141,901 (GRCm39)	M3062K	possibly damaging	Het
Cdh8	G	C	8: 99,916,849 (GRCm39)	S422C	probably damaging	Het
Col15a1	G	T	4: 47,245,544 (GRCm39)	K98N	probably damaging	Het
Cyp3a57	T	A	5: 145,309,376 (GRCm39)	L238H	probably damaging	Het
Dchs2	G	A	3: 83,255,501 (GRCm39)	R2399H	probably benign	Het
Dennd4c	A	C	4: 86,754,694 (GRCm39)	H1568P	probably benign	Het
Dnm2	C	T	9: 21,387,881 (GRCm39)	R369C	probably damaging	Het
Efcab7	T	G	4: 99,757,777 (GRCm39)	L308*	probably null	Het
Elp2	T	A	18: 24,739,934 (GRCm39)	N53K	possibly damaging	Het
Eml6	T	C	11: 29,701,381 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,468,286 (GRCm39)	E913*	probably null	Het
Fam186a	T	A	15: 99,852,756 (GRCm39)	Y154F	unknown	Het
Fhl3	G	A	4: 124,601,315 (GRCm39)	D113N	probably benign	Het
Fryl	A	T	5: 73,216,843 (GRCm39)	M2149K	probably damaging	Het
Gbf1	T	C	19: 46,268,380 (GRCm39)	Y1251H	probably benign	Het
Ghitm	C	A	14: 36,847,859 (GRCm39)	G262W	probably null	Het
Gm14325	T	A	2: 177,474,635 (GRCm39)	H148L	probably damaging	Het
Grxcr1	C	A	5: 68,189,437 (GRCm39)	N69K	possibly damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrp1b	G	C	2: 40,518,708 (GRCm39)	H175D	possibly damaging	Het
Lrrc2	T	A	9: 110,782,250 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,904,151 (GRCm39)	F291L	probably benign	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Nfil3	T	A	13: 53,122,641 (GRCm39)	K88*	probably null	Het
Nit1	A	C	1: 171,171,130 (GRCm39)	V194G	probably damaging	Het
Nup210	T	C	6: 91,017,835 (GRCm39)	M1052V	probably benign	Het
Nup210l	A	G	3: 90,044,231 (GRCm39)	T511A	probably benign	Het
Nwd2	G	T	5: 63,961,794 (GRCm39)	M459I	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,513 (GRCm39)	N3D	probably benign	Het
Peg3	A	C	7: 6,711,797 (GRCm39)	S1142A	probably benign	Het
Phf3	T	A	1: 30,859,204 (GRCm39)	K959N	probably damaging	Het
Piezo2	C	T	18: 63,223,950 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,764,036 (GRCm39)	I365V	possibly damaging	Het
Plec	T	A	15: 76,070,818 (GRCm39)	Q860L	probably damaging	Het
Poglut2	C	A	1: 44,149,987 (GRCm39)	E401*	probably null	Het
Ppp5c	T	G	7: 16,740,891 (GRCm39)	D359A	possibly damaging	Het
Pvr	C	T	7: 19,643,139 (GRCm39)	A365T	possibly damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rasa3	A	T	8: 13,635,029 (GRCm39)	L430Q	probably damaging	Het
Rims2	T	G	15: 39,208,911 (GRCm39)	V198G	probably benign	Het
Rnf38	C	T	4: 44,149,224 (GRCm39)	R41H	probably damaging	Het
Rptn	G	A	3: 93,305,558 (GRCm39)	V964I	probably benign	Het
Rrp1b	A	G	17: 32,271,719 (GRCm39)	D263G	probably benign	Het
Sgip1	T	C	4: 102,819,573 (GRCm39)	C560R	probably damaging	Het
Shisal2b	T	C	13: 105,000,214 (GRCm39)	Q3R	probably benign	Het
Sidt1	A	C	16: 44,065,706 (GRCm39)	I734S	probably null	Het
Ssh1	G	T	5: 114,080,636 (GRCm39)	D931E	probably damaging	Het
Thumpd2	C	A	17: 81,351,599 (GRCm39)	R274I	probably damaging	Het
Tpi1	T	C	6: 124,789,426 (GRCm39)	D183G	probably damaging	Het
Trnt1	T	A	6: 106,754,883 (GRCm39)	Y205N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,235 (GRCm39)	V376M	probably damaging	Het
Usp34	T	C	11: 23,402,569 (GRCm39)	V2454A	possibly damaging	Het
Uspl1	C	A	5: 149,124,655 (GRCm39)	S24Y	probably damaging	Het
Vmn1r58	A	C	7: 5,413,451 (GRCm39)	W260G	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfp868	A	C	8: 70,064,230 (GRCm39)	H368Q	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
R6777:Dkk2	UTSW	3	131,879,572 (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'- GACTTCTCATCATCAGTGGCAG -3'
(R):5'- GCTAGTGATGACTCTTCCAGTG -3'

Sequencing Primer
(F):5'- CTCATCATCAGTGGCAGTATAATGC -3'
(R):5'- CAGATCTTCTGGCATACATGGAGTC -3'

Posted On

2018-09-12