Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01987:Fzd3'

181962

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fzd3

Ensembl Gene

ENSMUSG00000007989

Gene Name

frizzled class receptor 3

Synonyms

D930050A07Rik, Fz3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01987

Quality Score

Status

Chromosome

Chromosomal Location

65429898-65499912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65477347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 69 (V69E)

Ref Sequence

ENSEMBL: ENSMUSP00000115325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000131309]

AlphaFold

Q61086

Predicted Effect

probably damaging
Transcript: ENSMUST00000131309
AA Change: V69E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115325
Gene: ENSMUSG00000007989
AA Change: V69E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FRI	27	138	3.39e-63	SMART
Frizzled	192	517	5.6e-184	SMART

Coding Region Coverage

Validation Efficiency

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 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. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruption of this gene die within 30 minutes of birth. Breathing is irregular. Brain development is abnormal with occasion falure of the cephalic neural tube to close. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,565,202 (GRCm39)	F77L	probably benign	Het
Abca8a	A	G	11: 109,964,981 (GRCm39)	F439L	possibly damaging	Het
Abcb5	A	T	12: 118,891,093 (GRCm39)	V468D	probably damaging	Het
Adgrb3	A	T	1: 25,140,512 (GRCm39)		probably null	Het
Ajm1	T	C	2: 25,467,970 (GRCm39)	E647G	possibly damaging	Het
Ankrd28	T	C	14: 31,500,931 (GRCm39)	D50G	probably damaging	Het
Cacna1b	A	T	2: 24,587,579 (GRCm39)		probably null	Het
Capn9	A	G	8: 125,302,965 (GRCm39)	S28G	probably benign	Het
Cdk5rap2	A	G	4: 70,220,319 (GRCm39)		probably null	Het
Dmtf1l	C	T	X: 125,722,098 (GRCm39)	E336K	possibly damaging	Het
E2f5	T	C	3: 14,652,363 (GRCm39)		probably benign	Het
Fam135b	A	G	15: 71,333,964 (GRCm39)	Y1077H	probably benign	Het
Fap	A	G	2: 62,359,020 (GRCm39)	Y428H	probably damaging	Het
Fasn	A	G	11: 120,708,899 (GRCm39)	S595P	probably damaging	Het
Flnb	T	C	14: 7,922,748 (GRCm38)		probably null	Het
Gcdh	A	T	8: 85,620,110 (GRCm39)		probably benign	Het
Ido1	A	G	8: 25,083,159 (GRCm39)	Y89H	probably benign	Het
Itga2	G	A	13: 114,984,482 (GRCm39)	Q1010*	probably null	Het
Man1a2	T	C	3: 100,551,873 (GRCm39)	Y280C	probably damaging	Het
Mgat4d	T	C	8: 84,094,731 (GRCm39)	I256T	probably damaging	Het
Mmrn1	A	G	6: 60,921,557 (GRCm39)	K5E	probably benign	Het
Ncapd2	A	G	6: 125,162,804 (GRCm39)		probably benign	Het
Or2at4	A	T	7: 99,384,478 (GRCm39)	I43F	probably damaging	Het
Or7g18	A	T	9: 18,787,003 (GRCm39)	I127L	probably benign	Het
Pcnx3	T	C	19: 5,727,507 (GRCm39)	D644G	probably damaging	Het
Pole	T	C	5: 110,485,098 (GRCm39)	V2280A	probably benign	Het
Ptprf	T	A	4: 118,134,567 (GRCm39)	M24L	probably benign	Het
Sbno1	T	C	5: 124,542,282 (GRCm39)	N337S	probably damaging	Het
Serpinc1	T	A	1: 160,820,977 (GRCm39)	F141L	probably damaging	Het
Shroom3	C	A	5: 93,090,048 (GRCm39)	R933S	probably damaging	Het
Slc24a2	G	A	4: 87,146,033 (GRCm39)	P7L	probably benign	Het
Slc25a32	G	A	15: 38,961,002 (GRCm39)	T227I	probably damaging	Het
Slc7a1	A	G	5: 148,274,002 (GRCm39)	F396L	possibly damaging	Het
Smok2a	G	A	17: 13,445,377 (GRCm39)	R318H	probably benign	Het
Sntg2	A	G	12: 30,362,569 (GRCm39)	V59A	probably damaging	Het
Sspo	A	G	6: 48,454,558 (GRCm39)		probably null	Het
Tnfrsf1a	G	A	6: 125,333,827 (GRCm39)	V27I	probably damaging	Het
Tnpo3	T	C	6: 29,560,200 (GRCm39)	T648A	probably benign	Het
Tpbg	A	G	9: 85,727,252 (GRCm39)	Y407C	probably damaging	Het
Wbp2nl	A	T	15: 82,192,762 (GRCm39)	M149L	probably benign	Het
Yif1a	T	A	19: 5,141,625 (GRCm39)	M181K	probably benign	Het
Zkscan8	A	G	13: 21,710,729 (GRCm39)	L127S	probably damaging	Het

Other mutations in Fzd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02505:Fzd3	APN	14	65,490,555 (GRCm39)	missense	probably benign
IGL02568:Fzd3	APN	14	65,473,389 (GRCm39)	splice site	probably benign
R1161:Fzd3	UTSW	14	65,449,537 (GRCm39)	missense	probably damaging	1.00
R1563:Fzd3	UTSW	14	65,473,173 (GRCm39)	missense	probably damaging	1.00
R1616:Fzd3	UTSW	14	65,472,956 (GRCm39)	missense	probably benign
R1636:Fzd3	UTSW	14	65,490,555 (GRCm39)	missense	probably benign
R1826:Fzd3	UTSW	14	65,490,555 (GRCm39)	missense	probably benign
R2071:Fzd3	UTSW	14	65,473,012 (GRCm39)	missense	probably damaging	1.00
R2174:Fzd3	UTSW	14	65,449,680 (GRCm39)	splice site	probably benign
R3857:Fzd3	UTSW	14	65,477,288 (GRCm39)	missense	possibly damaging	0.84
R3859:Fzd3	UTSW	14	65,477,288 (GRCm39)	missense	possibly damaging	0.84
R3917:Fzd3	UTSW	14	65,473,379 (GRCm39)	missense	probably damaging	0.97
R4110:Fzd3	UTSW	14	65,472,616 (GRCm39)	missense	probably benign	0.00
R4396:Fzd3	UTSW	14	65,473,054 (GRCm39)	missense	probably damaging	0.99
R4740:Fzd3	UTSW	14	65,473,193 (GRCm39)	missense	possibly damaging	0.89
R4796:Fzd3	UTSW	14	65,472,607 (GRCm39)	missense	possibly damaging	0.89
R4838:Fzd3	UTSW	14	65,477,269 (GRCm39)	missense	probably benign	0.00
R5916:Fzd3	UTSW	14	65,440,178 (GRCm39)	missense	probably benign	0.29
R6240:Fzd3	UTSW	14	65,447,304 (GRCm39)	missense	probably damaging	1.00
R6732:Fzd3	UTSW	14	65,473,252 (GRCm39)	missense	probably benign	0.44
R6892:Fzd3	UTSW	14	65,447,330 (GRCm39)	missense	possibly damaging	0.90
R7819:Fzd3	UTSW	14	65,472,775 (GRCm39)	missense	probably damaging	1.00
R8113:Fzd3	UTSW	14	65,440,262 (GRCm39)	missense	probably benign	0.37
R8974:Fzd3	UTSW	14	65,472,440 (GRCm39)	missense	possibly damaging	0.50
R9128:Fzd3	UTSW	14	65,449,626 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07