Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Fzd2'

519426

Institutional Source

Beutler Lab

Gene Symbol

Fzd2

Ensembl Gene

ENSMUSG00000050288

Gene Name

frizzled class receptor 2

Synonyms

Fz10, Mfz10a, Mfz10

MMRRC Submission

044588-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

R6452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102495257-102498884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 102495811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 85 (V85G)

Ref Sequence

ENSEMBL: ENSMUSP00000091463 (fasta)

Gene Model

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

AlphaFold

Q9JIP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057893
AA Change: V85G

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

SMART Domains

Protein: ENSMUSP00000091463
Gene: ENSMUSG00000050288
AA Change: V85G

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Fermt3	A	T	19: 6,992,105 (GRCm39)	F92I	probably benign	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Gjd4	G	A	18: 9,280,457 (GRCm39)	T207M	possibly damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,524,290 (GRCm39)	L142*	probably null	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,709,882 (GRCm39)	S409P	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Smim1	T	C	4: 154,108,071 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tlcd3a	G	T	11: 76,097,972 (GRCm39)	G60*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp442	G	A	2: 150,250,028 (GRCm39)	H568Y	probably damaging	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	probably damaging	Het

Other mutations in Fzd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Fzd2	APN	11	102,496,608 (GRCm39)	missense	possibly damaging	0.94
IGL02034:Fzd2	APN	11	102,495,730 (GRCm39)	missense	probably damaging	1.00
IGL02035:Fzd2	APN	11	102,497,270 (GRCm39)	makesense	probably null
frowzy	UTSW	11	102,495,955 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Fzd2	UTSW	11	102,496,573 (GRCm39)	missense	probably damaging	0.99
R0201:Fzd2	UTSW	11	102,496,948 (GRCm39)	missense	probably damaging	1.00
R1146:Fzd2	UTSW	11	102,496,206 (GRCm39)	missense	possibly damaging	0.76
R1146:Fzd2	UTSW	11	102,496,206 (GRCm39)	missense	possibly damaging	0.76
R1530:Fzd2	UTSW	11	102,496,134 (GRCm39)	missense	probably benign	0.00
R1589:Fzd2	UTSW	11	102,497,154 (GRCm39)	missense	probably benign	0.06
R1676:Fzd2	UTSW	11	102,496,707 (GRCm39)	missense	probably damaging	1.00
R2057:Fzd2	UTSW	11	102,496,759 (GRCm39)	missense	probably damaging	1.00
R2219:Fzd2	UTSW	11	102,496,249 (GRCm39)	missense	probably benign	0.01
R2410:Fzd2	UTSW	11	102,496,453 (GRCm39)	missense	possibly damaging	0.71
R5058:Fzd2	UTSW	11	102,495,633 (GRCm39)	missense	probably damaging	0.99
R5296:Fzd2	UTSW	11	102,496,981 (GRCm39)	missense	probably damaging	0.96
R5580:Fzd2	UTSW	11	102,496,665 (GRCm39)	missense	probably damaging	0.99
R5788:Fzd2	UTSW	11	102,496,293 (GRCm39)	missense	probably benign	0.03
R6104:Fzd2	UTSW	11	102,497,161 (GRCm39)	missense	probably damaging	1.00
R7454:Fzd2	UTSW	11	102,495,955 (GRCm39)	missense	probably damaging	1.00
R7774:Fzd2	UTSW	11	102,496,314 (GRCm39)	missense	possibly damaging	0.88
R9129:Fzd2	UTSW	11	102,496,465 (GRCm39)	missense	probably benign	0.06
R9246:Fzd2	UTSW	11	102,496,749 (GRCm39)	missense	possibly damaging	0.94
R9631:Fzd2	UTSW	11	102,496,916 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAAAGTTTGCAAGGAGACGC -3'
(R):5'- CTTATAGCTGAGATAGGACGGCAC -3'

Sequencing Primer
(F):5'- TGCCACTGCTGCTGCTG -3'
(R):5'- TGCTCCAGAGTGGCGTAAC -3'

Posted On

2018-05-24