Mutagenetix > Incidental Mutation

Incidental Mutation 'R8818:Fzd8'

672895

Institutional Source

Beutler Lab

Gene Symbol

Fzd8

Ensembl Gene

ENSMUSG00000036904

Gene Name

frizzled class receptor 8

Synonyms

mFZ8, Fz8

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9212856-9216201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9214474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 519 (T519A)

Ref Sequence

ENSEMBL: ENSMUSP00000039660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041080]

AlphaFold

Q61091

PDB Structure

CRYSTAL STRUCTURE OF THE CYSTEINE-RICH DOMAIN OF MOUSE FRIZZLED 8 (MFZ8) [X-RAY DIFFRACTION]
Crystal structure of XWnt8 in complex with the cysteine-rich domain of Frizzled 8 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000041080
AA Change: T519A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904
AA Change: T519A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
FRI	34	153	9.06e-73	SMART
low complexity region	161	228	N/A	INTRINSIC
Frizzled	264	621	1.47e-219	SMART
low complexity region	624	655	N/A	INTRINSIC

Meta Mutation Damage Score

0.1622

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	G	3: 36,996,548	M3011R	possibly damaging	Het
Abca14	G	T	7: 120,216,301	M257I	probably benign	Het
Adam23	T	C	1: 63,545,468	V345A	probably damaging	Het
Anxa6	T	G	11: 55,011,752	N52T	possibly damaging	Het
Arhgef15	G	A	11: 68,951,112	H496Y	probably damaging	Het
Atp2a3	A	G	11: 72,981,939	E771G	probably damaging	Het
B3gnt5	A	G	16: 19,769,597	T189A	possibly damaging	Het
Becn1	A	T	11: 101,295,404	S125T	probably damaging	Het
Ccdc180	A	G	4: 45,900,484	M283V	probably benign	Het
Cdh17	T	C	4: 11,771,323	F35S	probably damaging	Het
Clcn1	T	A	6: 42,305,543	I515N	probably damaging	Het
Cyp4f17	A	G	17: 32,524,094	Y247C	probably damaging	Het
Dcp1a	T	A	14: 30,518,942	H236Q	possibly damaging	Het
Dnah11	T	A	12: 117,911,029	N4034Y	probably damaging	Het
Dsg1a	A	G	18: 20,340,542	I891V	possibly damaging	Het
Eid3	A	G	10: 82,867,607	N301D	probably damaging	Het
Fbrs	C	A	7: 127,479,522	D108E	unknown	Het
Fbxw14	A	C	9: 109,287,003		probably benign	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Gm35911	A	T	5: 99,941,235	N120Y	probably damaging	Het
Gpr3	C	A	4: 133,211,227	V45L	possibly damaging	Het
Gramd1b	A	T	9: 40,304,484	I690K	probably benign	Het
Grhl2	T	A	15: 37,270,668	D33E	probably damaging	Het
Kcnj4	C	A	15: 79,485,719	R20L	probably damaging	Het
Klhl5	A	G	5: 65,148,646	I319V	probably benign	Het
Lars2	A	T	9: 123,392,827	E135D	possibly damaging	Het
Map9	T	A	3: 82,383,963	Y602N	possibly damaging	Het
Mphosph9	A	T	5: 124,324,964	L6*	probably null	Het
Naa35	C	T	13: 59,600,947	T131M	probably damaging	Het
Nucb2	T	A	7: 116,521,901	L22Q	possibly damaging	Het
Olfr1066	C	A	2: 86,455,734	C179F	probably damaging	Het
Olfr943	A	G	9: 39,184,766	Y193C	probably damaging	Het
Pcdhb6	C	T	18: 37,335,784	T586I	probably benign	Het
Ppcs	A	T	4: 119,422,133	L74Q	probably damaging	Het
Ppp6r3	A	T	19: 3,467,216	V677D	probably benign	Het
Psg27	C	T	7: 18,560,412	G357S	probably damaging	Het
Ptgdr2	A	G	19: 10,941,016	N299S	probably damaging	Het
Relb	T	A	7: 19,619,837	I39F	probably damaging	Het
Ripor2	T	A	13: 24,717,668	S907R	possibly damaging	Het
Rnf170	T	G	8: 26,139,015	D172E	probably benign	Het
Rnf31	C	A	14: 55,594,939	Q273K	probably benign	Het
Rrp36	A	T	17: 46,672,410	S93T	probably damaging	Het
Rsad1	A	T	11: 94,548,274	V120D	probably benign	Het
Ryr3	C	T	2: 112,831,096	A1870T	probably damaging	Het
Serpina10	T	G	12: 103,628,804	D52A	probably benign	Het
Slc47a1	A	G	11: 61,370,229	I115T	probably benign	Het
Spag17	T	A	3: 100,013,227	M426K	probably benign	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Sptbn4	T	G	7: 27,364,167	E2283A	possibly damaging	Het
Top3a	A	G	11: 60,743,051	C740R	probably damaging	Het
Tpgs2	A	T	18: 25,158,308	V33E	probably damaging	Het
Treh	T	C	9: 44,681,526	I116T	probably damaging	Het
Trpm3	A	T	19: 22,978,588	N1138I	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Zswim9	G	T	7: 13,260,529	Q567K	probably benign	Het

Other mutations in Fzd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Fzd8	APN	18	9213068	missense	unknown
IGL01511:Fzd8	APN	18	9213293	missense	unknown
IGL03129:Fzd8	APN	18	9214270	missense	probably damaging	1.00
Stilt	UTSW	18	9213880	missense	probably damaging	1.00
R0058:Fzd8	UTSW	18	9213985	missense	possibly damaging	0.92
R0715:Fzd8	UTSW	18	9212947	missense	unknown
R0966:Fzd8	UTSW	18	9214745	missense	probably damaging	0.99
R1717:Fzd8	UTSW	18	9214364	missense	probably damaging	1.00
R1751:Fzd8	UTSW	18	9213643	missense	probably damaging	0.98
R1761:Fzd8	UTSW	18	9213643	missense	probably damaging	0.98
R1905:Fzd8	UTSW	18	9213803	missense	probably damaging	1.00
R1956:Fzd8	UTSW	18	9214502	missense	probably damaging	1.00
R2892:Fzd8	UTSW	18	9214514	missense	probably damaging	1.00
R3897:Fzd8	UTSW	18	9214939	missense	possibly damaging	0.89
R3968:Fzd8	UTSW	18	9214070	missense	probably damaging	0.98
R4934:Fzd8	UTSW	18	9214492	frame shift	probably null
R5366:Fzd8	UTSW	18	9213880	missense	probably damaging	1.00
R5624:Fzd8	UTSW	18	9213268	missense	unknown
R6261:Fzd8	UTSW	18	9214598	missense	possibly damaging	0.61
R6757:Fzd8	UTSW	18	9213238	missense	possibly damaging	0.78
R6758:Fzd8	UTSW	18	9213238	missense	possibly damaging	0.78
R6899:Fzd8	UTSW	18	9214729	missense	probably damaging	0.98
R7242:Fzd8	UTSW	18	9214171	missense	probably damaging	1.00
R8140:Fzd8	UTSW	18	9213797	missense	probably damaging	1.00
R8324:Fzd8	UTSW	18	9214688	missense	probably damaging	1.00
R8722:Fzd8	UTSW	18	9213686	missense	possibly damaging	0.67
R8820:Fzd8	UTSW	18	9213247	missense	unknown
R8913:Fzd8	UTSW	18	9213869	missense	probably damaging	1.00
R9036:Fzd8	UTSW	18	9214661	missense	probably damaging	1.00
R9401:Fzd8	UTSW	18	9213205	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TACTCGCAGTACTTCCACCTGG -3'
(R):5'- AGCATGAAGACCGCGTAATCG -3'

Sequencing Primer
(F):5'- TTGTGCCCAGCGTCAAGTC -3'
(R):5'- GTAATCGGGCCTGCGAG -3'

Posted On

2021-04-30