Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Fzd7'

45135

Institutional Source

Beutler Lab

Gene Symbol

Fzd7

Ensembl Gene

ENSMUSG00000041075

Gene Name

frizzled class receptor 7

Synonyms

Fz7

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.450) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59482424-59486955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59483284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 109 (V109L)

Ref Sequence

ENSEMBL: ENSMUSP00000109884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114246]

AlphaFold

Q61090

Predicted Effect

probably damaging
Transcript: ENSMUST00000114246
AA Change: V109L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: V109L

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
FRI	48	165	6.21e-71	SMART
Frizzled	241	565	1.64e-217	SMART

Meta Mutation Damage Score

0.4137

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a shorter tail with a distal kink with full penetrance as well as cardiac defects with low penetrance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Fzd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Fzd7	APN	1	59484380	missense	probably damaging	1.00
IGL01505:Fzd7	APN	1	59483903	missense	probably benign	0.00
IGL02647:Fzd7	APN	1	59484395	missense	probably damaging	1.00
PIT4495001:Fzd7	UTSW	1	59484307	missense	probably benign	0.44
R0479:Fzd7	UTSW	1	59483708	missense	probably damaging	1.00
R0639:Fzd7	UTSW	1	59484560	missense	probably damaging	1.00
R1587:Fzd7	UTSW	1	59483006	missense	possibly damaging	0.47
R2056:Fzd7	UTSW	1	59484202	missense	probably benign	0.00
R2566:Fzd7	UTSW	1	59484536	missense	possibly damaging	0.84
R2890:Fzd7	UTSW	1	59484434	missense	probably benign	0.27
R4078:Fzd7	UTSW	1	59483789	missense	possibly damaging	0.51
R4306:Fzd7	UTSW	1	59484407	missense	probably damaging	1.00
R4744:Fzd7	UTSW	1	59484436	missense	possibly damaging	0.72
R5249:Fzd7	UTSW	1	59483363	missense	probably damaging	1.00
R5740:Fzd7	UTSW	1	59483680	missense	probably benign	0.03
R5997:Fzd7	UTSW	1	59484544	missense	probably benign	0.01
R6136:Fzd7	UTSW	1	59483260	missense	probably damaging	1.00
R6170:Fzd7	UTSW	1	59483845	missense	probably benign	0.01
R6476:Fzd7	UTSW	1	59483995	missense	probably damaging	1.00
R7234:Fzd7	UTSW	1	59483284	missense	probably damaging	0.99
R7753:Fzd7	UTSW	1	59483482	missense	probably benign
R8322:Fzd7	UTSW	1	59483083	missense	probably benign	0.01
R9066:Fzd7	UTSW	1	59482832	start gained	probably benign
R9188:Fzd7	UTSW	1	59484638	missense	probably benign
R9255:Fzd7	UTSW	1	59483336	missense	possibly damaging	0.77
R9326:Fzd7	UTSW	1	59483678	missense	possibly damaging	0.93
R9458:Fzd7	UTSW	1	59484395	missense	probably damaging	1.00
Z1088:Fzd7	UTSW	1	59483870	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCCATATCACGGCGAGAAAG -3'
(R):5'- ACATCGCAGTGAAAGGTGGGTC -3'

Sequencing Primer
(F):5'- TATCACGGCGAGAAAGGCATC -3'
(R):5'- TCTGGCAGGTAGGGAGC -3'

Posted On

2013-06-11