Mutagenetix > Incidental Mutation

Incidental Mutation 'R6901:Dkk2'

538515

Institutional Source

Beutler Lab

Gene Symbol

Dkk2

Ensembl Gene

ENSMUSG00000028031

Gene Name

dickkopf WNT signaling pathway inhibitor 2

Synonyms

MMRRC Submission

044995-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R6901 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131791053-131886065 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 131880887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029665] [ENSMUST00000029665]

AlphaFold

Q9QYZ8

PDB Structure

A functional domain of a Wnt signal protein [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000029665

SMART Domains

Protein: ENSMUSP00000029665
Gene: ENSMUSG00000028031

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

Predicted Effect

probably null
Transcript: ENSMUST00000029665

SMART Domains

Protein: ENSMUSP00000029665
Gene: ENSMUSG00000028031

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: 99.3%
20x: 97.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,197,220 (GRCm39)	S136T	probably benign	Het
Anxa10	T	C	8: 62,549,816 (GRCm39)	T10A	probably damaging	Het
Ap3b1	A	G	13: 94,554,650 (GRCm39)	E262G	probably benign	Het
Ap3b2	T	C	7: 81,134,660 (GRCm39)		probably null	Het
Arhgef40	A	G	14: 52,234,825 (GRCm39)	T1043A	probably damaging	Het
Arhgef5	T	A	6: 43,250,232 (GRCm39)	S328T	probably benign	Het
Arid4a	A	G	12: 71,113,911 (GRCm39)	K166R	probably damaging	Het
Cdh12	A	G	15: 21,583,872 (GRCm39)	I571V	probably benign	Het
Cdh4	G	A	2: 179,501,987 (GRCm39)	V316I	probably benign	Het
Cebpg	A	T	7: 34,750,202 (GRCm39)	H20Q	probably benign	Het
Ces4a	G	A	8: 105,873,330 (GRCm39)	V392I	probably benign	Het
CN725425	C	A	15: 91,124,966 (GRCm39)	P169T	possibly damaging	Het
Cyp2c54	A	G	19: 40,058,703 (GRCm39)	F243S	probably damaging	Het
Dync2h1	A	G	9: 7,131,855 (GRCm39)	Y1651H	probably damaging	Het
Dyrk1b	T	A	7: 27,884,542 (GRCm39)	L346Q	probably damaging	Het
Ephx4	T	C	5: 107,561,427 (GRCm39)	V85A	probably benign	Het
Etv6	A	G	6: 134,243,421 (GRCm39)	E392G	probably benign	Het
Fli1	T	A	9: 32,341,221 (GRCm39)	N202I	probably benign	Het
Gpc6	G	T	14: 118,188,629 (GRCm39)	R421L	possibly damaging	Het
Gse1	A	G	8: 120,956,561 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,089 (GRCm39)	E360G	probably benign	Het
Hnrnpab	T	C	11: 51,492,675 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,756,190 (GRCm39)	E136G	probably damaging	Het
Ift56	G	A	6: 38,378,079 (GRCm39)	R297H	possibly damaging	Het
Kcna3	C	T	3: 106,943,884 (GRCm39)	A49V	probably benign	Het
Krt42	C	T	11: 100,160,542 (GRCm39)	M52I	probably benign	Het
Lyrm4	A	T	13: 36,301,107 (GRCm39)	Y13N	probably damaging	Het
Map2	C	T	1: 66,460,932 (GRCm39)	S1576L	possibly damaging	Het
Map3k12	G	T	15: 102,409,065 (GRCm39)	P817T	possibly damaging	Het
Map3k12	G	T	15: 102,409,064 (GRCm39)	P817Q	possibly damaging	Het
Masp1	T	C	16: 23,332,584 (GRCm39)	K84E	probably damaging	Het
Mki67	A	T	7: 135,310,489 (GRCm39)		probably null	Het
Mrap	C	G	16: 90,546,193 (GRCm39)	S94C	probably damaging	Het
Mybpc2	C	A	7: 44,154,779 (GRCm39)	C986F	probably damaging	Het
Nbea	A	C	3: 55,926,836 (GRCm39)	M789R	probably damaging	Het
Or2ag1b	T	C	7: 106,288,396 (GRCm39)	I181V	probably benign	Het
Or6b2	G	T	1: 92,408,327 (GRCm39)	N5K	probably damaging	Het
Pde4a	A	G	9: 21,116,266 (GRCm39)	N475S	probably benign	Het
Pex7	C	T	10: 19,736,740 (GRCm39)	V297I	probably benign	Het
Pkd1l3	A	T	8: 110,341,246 (GRCm39)	H33L	unknown	Het
Prl8a6	A	T	13: 27,621,030 (GRCm39)	Y67N	possibly damaging	Het
Rcor1	A	T	12: 111,075,322 (GRCm39)	E383V	probably damaging	Het
Slc22a27	A	T	19: 7,903,944 (GRCm39)	S64R	probably damaging	Het
Snx7	G	A	3: 117,623,285 (GRCm39)	Q292*	probably null	Het
Tgm3	C	T	2: 129,883,890 (GRCm39)	T516M	possibly damaging	Het
Trim9	T	C	12: 70,393,413 (GRCm39)	E177G	probably damaging	Het
Ttc28	C	A	5: 111,424,891 (GRCm39)	T1541N	possibly damaging	Het
Ttc8	T	A	12: 98,927,735 (GRCm39)	L202H	probably damaging	Het
Ttll13	T	C	7: 79,899,930 (GRCm39)	Y90H	probably damaging	Het
Uba1y	T	G	Y: 825,496 (GRCm39)	I286S	probably benign	Het
Ubxn11	G	A	4: 133,853,575 (GRCm39)	A125T	probably damaging	Het
Vmn1r48	A	G	6: 90,013,550 (GRCm39)	Y92H	possibly damaging	Het
Vmn1r74	T	C	7: 11,581,368 (GRCm39)	F223L	probably benign	Het
Vwa5b1	G	A	4: 138,313,880 (GRCm39)	T696I	probably benign	Het
Zfp266	G	T	9: 20,410,895 (GRCm39)	Y427*	probably null	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	probably damaging	Het
Zfp385c	T	C	11: 100,523,585 (GRCm39)	N123S	probably benign	Het
Zfp936	T	A	7: 42,839,467 (GRCm39)	H311Q	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
R6855:Dkk2	UTSW	3	131,883,683 (GRCm39)	missense	probably damaging	1.00
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'- CCTACTTCCAGGAATCTGCATC -3'
(R):5'- GATGTCTAGAAAATGGTGTGGC -3'

Sequencing Primer
(F):5'- GGAATCTGCATCCCAGTCACTG -3'
(R):5'- GCAGGTCAGGTCTTTCTCATTAAATG -3'

Posted On

2018-11-06