Mutagenetix > Incidental Mutation

Incidental Mutation 'R1165:Wnt2'

100926

Institutional Source

Beutler Lab

Gene Symbol

Wnt2

Ensembl Gene

ENSMUSG00000010797

Gene Name

wingless-type MMTV integration site family, member 2

Synonyms

Mirp, 2610510E18Rik, Int1l1, m-irp, Irp, Wnt2a, Wnt-2

MMRRC Submission

039238-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17988939-18030584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17989946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 317 (H317R)

Ref Sequence

ENSEMBL: ENSMUSP00000010941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010941]

AlphaFold

P21552

Predicted Effect

probably benign
Transcript: ENSMUST00000010941
AA Change: H317R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010941
Gene: ENSMUSG00000010797
AA Change: H317R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
WNT1	43	349	5.1e-213	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit impaired placental vascularization, runting and 50% perinatal mortality resulting from difficulties in breathing and nursing. Survivors of the perinatal period tend to recover, and adults are healthy and fertile. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(3)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,482,406 (GRCm39)	C1209G	probably benign	Het
Abcg2	C	A	6: 58,655,285 (GRCm39)	L407I	probably benign	Het
Adtrp	A	G	13: 41,967,779 (GRCm39)	V56A	probably damaging	Het
Angptl6	T	G	9: 20,789,604 (GRCm39)	N96T	probably benign	Het
Ank3	C	A	10: 69,734,132 (GRCm39)	N780K	possibly damaging	Het
AU040320	A	T	4: 126,717,433 (GRCm39)		probably benign	Het
Best2	C	T	8: 85,737,789 (GRCm39)	R202H	probably benign	Het
Bod1l	A	T	5: 41,978,396 (GRCm39)	S973T	probably benign	Het
Brca2	T	A	5: 150,466,212 (GRCm39)	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563 (GRCm39)	P539L	probably benign	Het
Ccr1	A	T	9: 123,763,531 (GRCm39)	V333E	possibly damaging	Het
Celf5	A	T	10: 81,307,172 (GRCm39)	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275 (GRCm39)		probably benign	Het
Coro1b	C	A	19: 4,199,901 (GRCm39)	H81N	probably damaging	Het
Cwc22	A	T	2: 77,734,242 (GRCm39)	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,678,242 (GRCm39)	G45W	probably damaging	Het
Dysf	T	A	6: 84,044,051 (GRCm39)	N297K	probably damaging	Het
Edem1	T	A	6: 108,828,214 (GRCm39)	L513Q	probably damaging	Het
Erich1	G	A	8: 14,140,530 (GRCm39)		probably benign	Het
Fam91a1	T	C	15: 58,302,518 (GRCm39)	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,162,608 (GRCm39)		probably benign	Het
Gas7	T	C	11: 67,561,512 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,705,397 (GRCm39)	D151G	probably damaging	Het
Gm14410	A	C	2: 176,885,282 (GRCm39)	Y327*	probably null	Het
Grep1	A	C	17: 23,929,489 (GRCm39)		probably benign	Het
H6pd	A	G	4: 150,080,413 (GRCm39)	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,810,947 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,840 (GRCm39)	T519A	possibly damaging	Het
Hpd	A	G	5: 123,314,153 (GRCm39)		probably null	Het
Insyn2b	A	G	11: 34,352,740 (GRCm39)	T261A	probably benign	Het
Or6c76	A	G	10: 129,612,302 (GRCm39)	D188G	probably damaging	Het
Or7c19	T	A	8: 85,957,400 (GRCm39)	I92N	probably damaging	Het
Pcdha11	A	G	18: 37,140,757 (GRCm39)		probably benign	Het
Pdgfrb	T	C	18: 61,197,074 (GRCm39)	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,115,420 (GRCm39)	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,694,017 (GRCm39)	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Rtel1	A	G	2: 180,976,732 (GRCm39)	K243E	probably benign	Het
Slc19a2	G	A	1: 164,091,014 (GRCm39)	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,887,059 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,790 (GRCm39)	F266L	probably damaging	Het
Snx25	T	G	8: 46,488,752 (GRCm39)	I868L	probably damaging	Het
Spag16	A	G	1: 70,036,036 (GRCm39)	I355V	probably benign	Het
Tmem198	A	T	1: 75,456,576 (GRCm39)		probably benign	Het
Traf3ip3	A	C	1: 192,866,786 (GRCm39)	S349A	probably damaging	Het
Trim17	A	G	11: 58,862,041 (GRCm39)	N358D	possibly damaging	Het
Trmu	A	G	15: 85,776,875 (GRCm39)	T196A	probably damaging	Het
Tsen2	A	G	6: 115,538,396 (GRCm39)	Y291C	probably damaging	Het
Vps13d	A	G	4: 144,853,041 (GRCm39)	F2358L	probably benign	Het
Zfp120	A	T	2: 149,961,849 (GRCm39)	V33E	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Wnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03264:Wnt2	APN	6	17,989,959 (GRCm39)	missense	probably benign	0.22
1mM(1):Wnt2	UTSW	6	18,008,622 (GRCm39)	missense	probably damaging	1.00
R1771:Wnt2	UTSW	6	18,008,696 (GRCm39)	missense	probably damaging	0.97
R1782:Wnt2	UTSW	6	18,008,639 (GRCm39)	missense	possibly damaging	0.65
R1836:Wnt2	UTSW	6	18,023,234 (GRCm39)	missense	probably damaging	1.00
R1921:Wnt2	UTSW	6	18,030,252 (GRCm39)	missense	unknown
R2009:Wnt2	UTSW	6	18,030,208 (GRCm39)	missense	probably damaging	0.98
R3749:Wnt2	UTSW	6	18,023,167 (GRCm39)	missense	probably benign	0.00
R4831:Wnt2	UTSW	6	18,023,285 (GRCm39)	missense	probably benign	0.19
R4888:Wnt2	UTSW	6	18,023,125 (GRCm39)	missense	possibly damaging	0.89
R4924:Wnt2	UTSW	6	18,023,239 (GRCm39)	missense	probably damaging	1.00
R5121:Wnt2	UTSW	6	18,023,125 (GRCm39)	missense	possibly damaging	0.89
R5660:Wnt2	UTSW	6	18,028,145 (GRCm39)	missense	probably benign	0.09
R5767:Wnt2	UTSW	6	17,990,027 (GRCm39)	missense	probably damaging	0.97
R6005:Wnt2	UTSW	6	18,030,322 (GRCm39)	start gained	probably benign
R6670:Wnt2	UTSW	6	18,028,091 (GRCm39)	missense	possibly damaging	0.90
R7205:Wnt2	UTSW	6	18,028,046 (GRCm39)	missense	probably benign	0.11
R7711:Wnt2	UTSW	6	17,990,036 (GRCm39)	missense	probably benign	0.44
R7732:Wnt2	UTSW	6	18,023,335 (GRCm39)	missense	probably damaging	1.00
R8249:Wnt2	UTSW	6	18,030,284 (GRCm39)	start codon destroyed	probably null
R9145:Wnt2	UTSW	6	18,030,397 (GRCm39)	start gained	probably benign

Predicted Primers

Posted On

2014-01-15