Mutagenetix > Incidental Mutations

Incidental Mutation 'R1146:Fzd2'

165125

Institutional Source

Beutler Lab

Gene Symbol

Fzd2

Ensembl Gene

ENSMUSG00000050288

Gene Name

frizzled class receptor 2

Synonyms

Mfz10a, Fz10, Mfz10

MMRRC Submission

039219-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102604396-102608058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102605380 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 217 (S217C)

Ref Sequence

ENSEMBL: ENSMUSP00000091463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057893]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057893
AA Change: S217C

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091463
Gene: ENSMUSG00000050288
AA Change: S217C

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
FRI	43	160	7.47e-74	SMART
low complexity region	176	195	N/A	INTRINSIC
Frizzled	239	563	3.32e-218	SMART

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

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. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
PHENOTYPE: About 50% of mice homozygous for a reporter allele display a cleft palate and die as neonates; the remaining 50% survive exhibiting a variable degree of postnatal runting and reduced olfactory sensitivity to various odorants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,364,971		probably benign	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Dync1i2	C	T	2: 71,227,820		probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Frg1	A	G	8: 41,411,217		probably benign	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm10774	T	C	2: 126,709,472	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Mpi	A	G	9: 57,545,189		probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512		probably benign	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Prss16	A	G	13: 22,006,968		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	Het

Other mutations in Fzd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Fzd2	APN	11	102605782	missense	possibly damaging	0.94
IGL02034:Fzd2	APN	11	102604904	missense	probably damaging	1.00
IGL02035:Fzd2	APN	11	102606444	makesense	probably null
frowzy	UTSW	11	102605129	missense	probably damaging	1.00
PIT4585001:Fzd2	UTSW	11	102605747	missense	probably damaging	0.99
R0201:Fzd2	UTSW	11	102606122	missense	probably damaging	1.00
R1146:Fzd2	UTSW	11	102605380	missense	possibly damaging	0.76
R1530:Fzd2	UTSW	11	102605308	missense	probably benign	0.00
R1589:Fzd2	UTSW	11	102606328	missense	probably benign	0.06
R1676:Fzd2	UTSW	11	102605881	missense	probably damaging	1.00
R2057:Fzd2	UTSW	11	102605933	missense	probably damaging	1.00
R2219:Fzd2	UTSW	11	102605423	missense	probably benign	0.01
R2410:Fzd2	UTSW	11	102605627	missense	possibly damaging	0.71
R5058:Fzd2	UTSW	11	102604807	missense	probably damaging	0.99
R5296:Fzd2	UTSW	11	102606155	missense	probably damaging	0.96
R5580:Fzd2	UTSW	11	102605839	missense	probably damaging	0.99
R5788:Fzd2	UTSW	11	102605467	missense	probably benign	0.03
R6104:Fzd2	UTSW	11	102606335	missense	probably damaging	1.00
R6452:Fzd2	UTSW	11	102604985	missense	probably damaging	1.00
R7454:Fzd2	UTSW	11	102605129	missense	probably damaging	1.00
R7774:Fzd2	UTSW	11	102605488	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AACAAGTTCGGCTTCCAATGGCCC -3'
(R):5'- AGCGAAATCGCTGCATGTCCAC -3'

Sequencing Primer
(F):5'- GAGCATTTCCCGCGTCAC -3'
(R):5'- TCGCTGCATGTCCACTAAATAGG -3'

Posted On

2014-03-28