Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Fzd5'

568188

Institutional Source

Beutler Lab

Gene Symbol

Fzd5

Ensembl Gene

ENSMUSG00000045005

Gene Name

frizzled class receptor 5

Synonyms

Fz5, 5330434N09Rik

MMRRC Submission

045417-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64769717-64776907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64774487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 425 (S425P)

Ref Sequence

ENSEMBL: ENSMUSP00000067783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063982] [ENSMUST00000116133]

AlphaFold

Q9EQD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000063982
AA Change: S425P

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

SMART Domains

Protein: ENSMUSP00000067783
Gene: ENSMUSG00000045005
AA Change: S425P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
FRI	32	152	1.28e-72	SMART
low complexity region	170	188	N/A	INTRINSIC
Frizzled	225	540	2.48e-217	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116133
AA Change: S425P

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

SMART Domains

Protein: ENSMUSP00000111828
Gene: ENSMUSG00000045005
AA Change: S425P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
FRI	32	152	1.28e-72	SMART
low complexity region	170	188	N/A	INTRINSIC
Frizzled	225	540	2.48e-217	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene die as embryos. Extra embryonic vascular development is abnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Adam33	C	T	2: 130,895,614 (GRCm39)	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dgcr6	A	G	16: 17,888,771 (GRCm39)	T69A	unknown	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,510,754 (GRCm39)	D458G	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,293,222 (GRCm39)	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Vezf1	T	A	11: 87,972,410 (GRCm39)	I439K	possibly damaging	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zfp715	T	C	7: 42,960,562 (GRCm39)	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,740,445 (GRCm39)	E382K	possibly damaging	Het

Other mutations in Fzd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Fzd5	APN	1	64,775,105 (GRCm39)	missense	possibly damaging	0.81
IGL02015:Fzd5	APN	1	64,775,501 (GRCm39)	missense	probably damaging	1.00
IGL02673:Fzd5	APN	1	64,774,265 (GRCm39)	missense	possibly damaging	0.48
R0060:Fzd5	UTSW	1	64,774,835 (GRCm39)	missense	probably benign	0.01
R1860:Fzd5	UTSW	1	64,774,153 (GRCm39)	missense	probably damaging	1.00
R1884:Fzd5	UTSW	1	64,774,813 (GRCm39)	missense	probably damaging	1.00
R2373:Fzd5	UTSW	1	64,774,066 (GRCm39)	missense	probably damaging	0.96
R3114:Fzd5	UTSW	1	64,774,739 (GRCm39)	missense	probably benign	0.45
R3725:Fzd5	UTSW	1	64,775,498 (GRCm39)	missense	probably damaging	1.00
R4972:Fzd5	UTSW	1	64,775,171 (GRCm39)	missense	probably benign	0.06
R5154:Fzd5	UTSW	1	64,775,131 (GRCm39)	missense	probably benign	0.05
R5441:Fzd5	UTSW	1	64,774,576 (GRCm39)	missense	probably benign	0.43
R6122:Fzd5	UTSW	1	64,774,815 (GRCm39)	nonsense	probably null
R6748:Fzd5	UTSW	1	64,774,723 (GRCm39)	missense	possibly damaging	0.89
R7526:Fzd5	UTSW	1	64,775,251 (GRCm39)	missense	probably benign	0.01
R7543:Fzd5	UTSW	1	64,774,999 (GRCm39)	missense	probably damaging	0.99
R8163:Fzd5	UTSW	1	64,774,352 (GRCm39)	missense	probably damaging	1.00
R9273:Fzd5	UTSW	1	64,775,110 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGCATGAGCACCCAGTACTC -3'
(R):5'- CCCAGTGTCAAGTCCATTACGG -3'

Sequencing Primer
(F):5'- AGCACCCAGTACTCGGGTTTG -3'
(R):5'- TCAAGTCCATTACGGCGCTG -3'

Posted On

2019-06-26