Mutagenetix > Incidental Mutation

Incidental Mutation 'R4934:Fzd8'

380875

Institutional Source

Beutler Lab

Gene Symbol

Fzd8

Ensembl Gene

ENSMUSG00000036904

Gene Name

frizzled class receptor 8

Synonyms

mFZ8, Fz8

MMRRC Submission

042534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4934 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

9212856-9216201 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GAAAAACTCA to GA at 9214492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000041080

SMART Domains

Protein: ENSMUSP00000039660
Gene: ENSMUSG00000036904

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

99% (134/135)

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: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	A	T	1: 31,222,499		probably benign	Het
Acy1	T	A	9: 106,435,122	I14F	probably null	Het
Ago1	T	C	4: 126,448,859	D193G	possibly damaging	Het
Arhgap45	A	T	10: 80,020,957	H201L	probably damaging	Het
Armc9	G	A	1: 86,213,079	D63N	probably damaging	Het
Asb17	A	T	3: 153,850,699	I148F	possibly damaging	Het
Atf7ip2	A	G	16: 10,241,583	E329G	possibly damaging	Het
Atp2a1	T	A	7: 126,453,428	D373V	probably benign	Het
BC067074	C	A	13: 113,368,348	Q2004K	probably damaging	Het
Cacna1e	G	T	1: 154,481,634	Y603*	probably null	Het
Cbln4	G	A	2: 172,038,981	T131I	probably damaging	Het
Ccdc126	A	G	6: 49,334,247	E63G	probably damaging	Het
Ccl4	T	A	11: 83,662,678	S6T	unknown	Het
Ccnb1	A	T	13: 100,781,701	I146K	possibly damaging	Het
Ccr8	T	A	9: 120,094,749	M310K	probably benign	Het
Cd180	A	T	13: 102,739,164		probably null	Het
Cd46	G	C	1: 195,082,799		probably benign	Het
Cebpb	A	G	2: 167,689,085	M22V	probably benign	Het
Cep152	A	G	2: 125,611,096	I352T	possibly damaging	Het
Cep295	T	G	9: 15,333,160	E1333D	probably damaging	Het
Ces4a	A	G	8: 105,137,981	H30R	probably benign	Het
Chrm3	A	G	13: 9,877,414	Y529H	probably damaging	Het
Chrnb4	T	C	9: 55,034,817	Y391C	probably benign	Het
Clca3a2	A	G	3: 144,817,931	Y98H	probably damaging	Het
Clvs1	C	T	4: 9,424,216	H221Y	possibly damaging	Het
Col3a1	G	A	1: 45,339,952		probably benign	Het
Cpn2	T	G	16: 30,260,526	N119T	probably damaging	Het
Cubn	T	A	2: 13,489,910	Q109H	probably benign	Het
Cyp26b1	A	G	6: 84,576,972	V221A	possibly damaging	Het
Cyp2e1	T	G	7: 140,770,117	N238K	probably damaging	Het
Dst	C	T	1: 34,208,588	A1693V	probably damaging	Het
Dync2li1	A	G	17: 84,649,255	Q281R	probably benign	Het
Enpp2	C	T	15: 54,882,147	G318S	probably damaging	Het
F13a1	G	T	13: 36,877,762	P676T	probably benign	Het
Fam189a2	T	C	19: 23,973,425	*597W	probably null	Het
Fam227a	T	C	15: 79,637,061	H267R	possibly damaging	Het
Fam78a	G	A	2: 32,069,415	R228C	probably damaging	Het
Fbxw25	T	C	9: 109,651,637	N325S	possibly damaging	Het
Foxred1	T	C	9: 35,209,914		probably benign	Het
Fstl5	T	A	3: 76,588,965	V345E	probably damaging	Het
Gm15448	A	G	7: 3,822,677	Y398H	probably damaging	Het
Hand1	T	C	11: 57,831,252	R179G	possibly damaging	Het
Hk1	G	T	10: 62,358,386		probably benign	Het
Hmcn1	A	C	1: 150,722,535	L1672R	probably damaging	Het
Hps5	G	A	7: 46,769,351	Q297*	probably null	Het
Iars	T	A	13: 49,717,984	F699I	probably benign	Het
Ift140	G	A	17: 25,048,488	G620E	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Inpp4a	T	G	1: 37,387,841	Y628D	possibly damaging	Het
Itk	C	T	11: 46,389,325	R29H	probably damaging	Het
Kcnv1	A	G	15: 45,109,248	F413S	probably damaging	Het
Klhl3	A	T	13: 58,102,417	Y4*	probably null	Het
Lonrf1	C	A	8: 36,233,949	C369F	probably damaging	Het
Magohb	A	T	6: 131,284,595		probably benign	Het
Map3k4	G	A	17: 12,271,900	R215C	probably damaging	Het
Map3k8	A	T	18: 4,339,548	S274R	possibly damaging	Het
Masp1	T	G	16: 23,465,076	M470L	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Muc4	A	T	16: 32,756,098		probably benign	Het
Myo1c	T	A	11: 75,671,850	V981E	probably damaging	Het
Nedd9	A	T	13: 41,338,935	I27K	probably damaging	Het
Nkd2	C	A	13: 73,822,722	G247V	probably damaging	Het
Nucb2	A	C	7: 116,539,964	Q398P	possibly damaging	Het
Numa1	T	A	7: 102,010,857	D376E	probably benign	Het
Olfr1188	C	T	2: 88,559,586	T39I	probably benign	Het
Olfr1198	A	T	2: 88,746,054	L278*	probably null	Het
Olfr1475	G	A	19: 13,479,592	T202I	possibly damaging	Het
Olfr263	G	A	13: 21,133,071	V99I	probably benign	Het
Olfr722	T	C	14: 49,895,749	T18A	probably benign	Het
Olfr735	C	T	14: 50,345,888	V185M	probably damaging	Het
Olfr813	A	T	10: 129,857,027	N170Y	possibly damaging	Het
Olfr930	A	T	9: 38,930,833	I221F	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pamr1	C	T	2: 102,642,204	T616I	probably benign	Het
Pcnx	G	A	12: 81,991,825	V1955I	possibly damaging	Het
Plekha3	T	A	2: 76,680,227	D35E	possibly damaging	Het
Pnpla2	T	G	7: 141,458,172	N184K	probably damaging	Het
Polr3a	C	T	14: 24,452,624	E1216K	probably benign	Het
Ppp1r21	A	T	17: 88,545,375	S61C	probably damaging	Het
Ppp1r21	G	C	17: 88,545,376	S61T	probably damaging	Het
Prdm13	G	T	4: 21,678,223		probably benign	Het
Prss53	T	C	7: 127,888,707	N201S	probably benign	Het
Rab11fip2	A	G	19: 59,935,858	L338S	probably damaging	Het
Rad50	T	C	11: 53,684,275	N546S	probably benign	Het
Ralgapa1	T	C	12: 55,762,574	D472G	possibly damaging	Het
Rexo4	A	G	2: 26,960,334	I277T	probably damaging	Het
Rimbp2	C	T	5: 128,788,515	V590I	probably benign	Het
Ripor3	A	G	2: 167,982,816	V864A	probably benign	Het
Rnpc3	G	A	3: 113,624,979	H107Y	possibly damaging	Het
Ryr1	A	T	7: 29,068,095	D2927E	probably damaging	Het
Samd9l	G	A	6: 3,375,621	Q547*	probably null	Het
Scaper	T	C	9: 55,809,175	E724G	probably damaging	Het
Secisbp2l	C	T	2: 125,740,489	V1016I	probably damaging	Het
Selenoo	T	A	15: 89,098,767	M499K	probably damaging	Het
Sema4a	T	A	3: 88,438,261	D505V	probably damaging	Het
Sema5a	T	C	15: 32,679,164	M863T	probably damaging	Het
Slc24a5	T	C	2: 125,088,020	C414R	probably damaging	Het
Slc34a2	A	G	5: 53,067,600	D361G	probably damaging	Het
Slc5a1	T	C	5: 33,104,514	Y20H	probably benign	Het
Slx4ip	A	T	2: 137,068,347		probably benign	Het
Snx14	T	A	9: 88,398,288	E538V	probably damaging	Het
Sspo	C	A	6: 48,465,552	L1994I	probably damaging	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Stap2	A	G	17: 55,997,901	S294P	possibly damaging	Het
Stat1	C	A	1: 52,153,923	Y651*	probably null	Het
Syne2	A	G	12: 75,899,272	T373A	probably benign	Het
Tacc2	A	G	7: 130,728,588	S201G	probably damaging	Het
Tdpoz3	G	A	3: 93,826,980	E321K	probably benign	Het
Thumpd1	T	C	7: 119,716,779	T316A	probably benign	Het
Tlr3	A	T	8: 45,397,035	C866S	probably benign	Het
Tmprss11g	T	A	5: 86,496,542	I148F	probably benign	Het
Topbp1	T	A	9: 103,328,369		probably benign	Het
Tpm1	T	C	9: 67,028,049		probably null	Het
Traf3ip2	T	A	10: 39,626,100	S81R	probably damaging	Het
Trim29	T	A	9: 43,310,968	N31K	probably benign	Het
Ubn2	C	T	6: 38,490,498	P563S	probably benign	Het
Usp24	T	C	4: 106,426,546	Y2418H	probably benign	Het
Vmn2r6	T	A	3: 64,556,345	D267V	probably damaging	Het
Wapl	T	A	14: 34,692,095	C305S	probably benign	Het
Yme1l1	C	A	2: 23,168,321	S155*	probably null	Het
Ythdf3	T	A	3: 16,204,056	H126Q	probably damaging	Het
Zbtb32	A	T	7: 30,591,253	C206S	possibly damaging	Het
Zfp518a	A	T	19: 40,914,263	I879F	probably benign	Het
Zfp651	T	C	9: 121,763,979	V455A	probably damaging	Het
Zfp938	A	T	10: 82,226,178	Y203N	possibly damaging	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
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
R8818:Fzd8	UTSW	18	9214474	missense	probably benign	0.26
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'- AGGCTACTCGCAGTACTTCCAC -3'
(R):5'- GCATGAAGACCGCGTAATCG -3'

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

Posted On

2016-04-15