Mutagenetix > Incidental Mutation

Incidental Mutation 'R1533:Fzd6'

166777

Institutional Source

Beutler Lab

Gene Symbol

Fzd6

Ensembl Gene

ENSMUSG00000022297

Gene Name

frizzled class receptor 6

Synonyms

rst, Fz6

MMRRC Submission

039572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38869673-38901587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38895019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 395 (H395L)

Ref Sequence

ENSEMBL: ENSMUSP00000136328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022906] [ENSMUST00000179165]

AlphaFold

Q61089

Predicted Effect

probably damaging
Transcript: ENSMUST00000022906
AA Change: H395L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022906
Gene: ENSMUSG00000022297
AA Change: H395L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
FRI	23	134	9.66e-59	SMART
Frizzled	188	513	4.88e-184	SMART
low complexity region	532	543	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179165
AA Change: H395L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136328
Gene: ENSMUSG00000022297
AA Change: H395L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
FRI	23	134	9.66e-59	SMART
Frizzled	188	513	4.88e-184	SMART
low complexity region	532	543	N/A	INTRINSIC

Meta Mutation Damage Score

0.7271

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a member of the 'frizzled' gene family, which encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The protein encoded by this family member contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and seven transmembrane domains, but unlike other family members, this protein does not contain a C-terminal PDZ domain-binding motif. This protein functions as a negative regulator of the canonical Wnt/beta-catenin signaling cascade, thereby inhibiting the processes that trigger oncogenic transformation, cell proliferation, and inhibition of apoptosis. Alternative splicing results in multiple transcript variants, some of which do not encode a protein with a predicted signal peptide.[provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mice for one mutation display abnormal hair follicle orientation. Another 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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,928,807 (GRCm39)	G1340A	probably benign	Het
Ambra1	T	A	2: 91,717,210 (GRCm39)	Y836N	probably damaging	Het
Arhgap26	A	T	18: 39,504,130 (GRCm39)	H144L	probably benign	Het
B3gnt5	A	G	16: 19,588,364 (GRCm39)	I194M	probably damaging	Het
Bltp1	G	T	3: 37,095,524 (GRCm39)	G4509V	probably damaging	Het
Bod1l	A	T	5: 41,979,498 (GRCm39)	C605*	probably null	Het
C2cd3	G	T	7: 100,055,284 (GRCm39)	K482N	possibly damaging	Het
Cd300lg	T	A	11: 101,934,047 (GRCm39)	L98Q	probably damaging	Het
Cerkl	T	A	2: 79,171,701 (GRCm39)	I386F	possibly damaging	Het
Cfh	T	A	1: 140,028,716 (GRCm39)	D466V	possibly damaging	Het
Crtc1	A	T	8: 70,850,949 (GRCm39)	I221N	probably damaging	Het
Ctnnbl1	T	C	2: 157,678,563 (GRCm39)	S389P	probably benign	Het
Ctsb	A	T	14: 63,376,544 (GRCm39)	D258V	probably damaging	Het
Cuzd1	G	T	7: 130,913,432 (GRCm39)	T395N	probably damaging	Het
Dnah6	T	C	6: 73,128,536 (GRCm39)	T1240A	probably benign	Het
Dok7	T	A	5: 35,221,671 (GRCm39)		probably null	Het
Dscaml1	T	C	9: 45,361,882 (GRCm39)	V214A	probably damaging	Het
Enpp6	A	T	8: 47,518,469 (GRCm39)	Y199F	probably benign	Het
Entpd5	C	A	12: 84,441,434 (GRCm39)	K111N	probably damaging	Het
Fam98a	A	G	17: 75,848,276 (GRCm39)	L146S	probably damaging	Het
Fhod3	A	T	18: 25,248,921 (GRCm39)	I1367F	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fpr3	T	A	17: 18,190,922 (GRCm39)	Y64*	probably null	Het
Gcsh	T	A	8: 117,715,921 (GRCm39)	H54L	probably damaging	Het
Gsdma	T	A	11: 98,567,210 (GRCm39)	S437T	unknown	Het
Gzmc	A	G	14: 56,471,376 (GRCm39)	V55A	probably damaging	Het
Hecw2	T	A	1: 53,965,704 (GRCm39)		probably null	Het
Ifi207	A	G	1: 173,555,306 (GRCm39)	V792A	probably benign	Het
Itpr3	C	A	17: 27,314,534 (GRCm39)	N661K	possibly damaging	Het
Jmy	A	T	13: 93,577,819 (GRCm39)	I783N	probably benign	Het
Kcmf1	T	C	6: 72,820,003 (GRCm39)	E281G	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lgr6	T	A	1: 135,032,670 (GRCm39)	Y70F	possibly damaging	Het
Lnx1	T	G	5: 74,780,678 (GRCm39)	D330A	probably damaging	Het
Lrp5	T	C	19: 3,664,234 (GRCm39)	N106S	probably benign	Het
Mamdc4	C	A	2: 25,459,759 (GRCm39)	R135L	possibly damaging	Het
Mcm3ap	A	G	10: 76,340,121 (GRCm39)	E1464G	probably damaging	Het
Megf8	T	C	7: 25,034,280 (GRCm39)	V666A	possibly damaging	Het
Mettl3	T	A	14: 52,534,385 (GRCm39)	E331D	probably benign	Het
Mphosph9	T	C	5: 124,405,204 (GRCm39)	K789R	probably damaging	Het
Mtf2	T	C	5: 108,239,995 (GRCm39)	L234P	probably damaging	Het
Ncdn	C	A	4: 126,642,491 (GRCm39)	E389*	probably null	Het
Ndor1	A	G	2: 25,139,279 (GRCm39)	S231P	probably damaging	Het
Nelfa	T	G	5: 34,056,215 (GRCm39)	K483Q	probably damaging	Het
Odad1	T	A	7: 45,592,282 (GRCm39)	M354K	probably benign	Het
Opn1sw	C	T	6: 29,378,923 (GRCm39)	R243Q	probably benign	Het
Or13a24	T	A	7: 140,155,034 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,792 (GRCm39)	N284S	probably damaging	Het
Pik3cd	T	C	4: 149,739,653 (GRCm39)	E584G	probably damaging	Het
Plcb3	A	T	19: 6,935,041 (GRCm39)	M870K	possibly damaging	Het
Poc5	A	G	13: 96,528,152 (GRCm39)	D16G	probably damaging	Het
Prpf40a	A	G	2: 53,035,852 (GRCm39)	I633T	probably damaging	Het
Ptpn13	G	T	5: 103,704,044 (GRCm39)	E1359*	probably null	Het
Ptprr	C	A	10: 116,024,113 (GRCm39)	Y4*	probably null	Het
Rbm45	T	C	2: 76,202,503 (GRCm39)		probably null	Het
Rfng	C	T	11: 120,672,687 (GRCm39)	W320*	probably null	Het
Rgs6	G	T	12: 83,138,547 (GRCm39)	V294L	probably benign	Het
Rufy4	T	C	1: 74,169,002 (GRCm39)		probably null	Het
Ruvbl2	T	A	7: 45,073,566 (GRCm39)	N313I	probably damaging	Het
Sema4g	G	A	19: 44,981,256 (GRCm39)	V70M	probably damaging	Het
Siglec1	T	C	2: 130,918,078 (GRCm39)	T969A	probably benign	Het
Slc22a27	T	A	19: 7,844,348 (GRCm39)	T431S	possibly damaging	Het
Slc25a16	G	A	10: 62,756,643 (GRCm39)	R38H	probably damaging	Het
Slc38a6	T	C	12: 73,391,626 (GRCm39)	V296A	probably benign	Het
Slc39a11	C	T	11: 113,196,748 (GRCm39)	V212I	probably damaging	Het
Sltm	A	G	9: 70,493,948 (GRCm39)	K782E	probably damaging	Het
Styxl1	T	A	5: 135,799,175 (GRCm39)	Y23F	probably damaging	Het
Svs4	T	C	2: 164,120,148 (GRCm39)	I20V	unknown	Het
Syt14	G	T	1: 192,613,084 (GRCm39)	T572K	possibly damaging	Het
Tbc1d5	A	T	17: 51,227,603 (GRCm39)	I214N	possibly damaging	Het
Tm9sf3	A	G	19: 41,227,223 (GRCm39)	S283P	probably benign	Het
Tmtc1	C	T	6: 148,147,208 (GRCm39)		probably null	Het
Ttll7	T	A	3: 146,602,422 (GRCm39)	N73K	probably damaging	Het
Ttn	T	A	2: 76,602,802 (GRCm39)	K18473N	probably damaging	Het
Ubr2	A	C	17: 47,278,173 (GRCm39)	Y721*	probably null	Het
Vmn1r14	T	A	6: 57,211,286 (GRCm39)	I288N	probably damaging	Het
Vmn2r103	T	C	17: 19,993,662 (GRCm39)	I13T	probably benign	Het
Vps13a	A	T	19: 16,678,494 (GRCm39)	Y1162*	probably null	Het
Vps51	C	A	19: 6,121,497 (GRCm39)	R175L	probably benign	Het
Zfp523	C	A	17: 28,423,473 (GRCm39)	S149R	probably benign	Het
Zik1	A	G	7: 10,224,053 (GRCm39)	I348T	possibly damaging	Het
Znfx1	T	A	2: 166,898,708 (GRCm39)	H72L	probably benign	Het

Other mutations in Fzd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02470:Fzd6	APN	15	38,899,952 (GRCm39)	utr 3 prime	probably benign
IGL02500:Fzd6	APN	15	38,894,781 (GRCm39)	missense	probably damaging	1.00
IGL02938:Fzd6	APN	15	38,897,285 (GRCm39)	missense	probably benign	0.03
IGL03219:Fzd6	APN	15	38,894,971 (GRCm39)	missense	probably damaging	1.00
R0314:Fzd6	UTSW	15	38,889,128 (GRCm39)	missense	possibly damaging	0.88
R0458:Fzd6	UTSW	15	38,894,676 (GRCm39)	missense	probably damaging	1.00
R0478:Fzd6	UTSW	15	38,897,429 (GRCm39)	splice site	probably null
R0961:Fzd6	UTSW	15	38,889,073 (GRCm39)	missense	probably damaging	1.00
R1473:Fzd6	UTSW	15	38,894,358 (GRCm39)	missense	probably damaging	1.00
R1479:Fzd6	UTSW	15	38,894,394 (GRCm39)	missense	probably damaging	1.00
R1731:Fzd6	UTSW	15	38,894,722 (GRCm39)	missense	probably damaging	1.00
R1836:Fzd6	UTSW	15	38,897,315 (GRCm39)	missense	probably damaging	1.00
R2241:Fzd6	UTSW	15	38,894,931 (GRCm39)	missense	probably damaging	0.96
R5089:Fzd6	UTSW	15	38,870,875 (GRCm39)	missense	probably damaging	1.00
R5526:Fzd6	UTSW	15	38,894,559 (GRCm39)	missense	possibly damaging	0.89
R5666:Fzd6	UTSW	15	38,894,510 (GRCm39)	missense	probably benign	0.32
R5670:Fzd6	UTSW	15	38,894,510 (GRCm39)	missense	probably benign	0.32
R5903:Fzd6	UTSW	15	38,870,783 (GRCm39)	start codon destroyed	probably null	0.99
R6221:Fzd6	UTSW	15	38,894,239 (GRCm39)	missense	probably benign	0.00
R6944:Fzd6	UTSW	15	38,889,212 (GRCm39)	missense	possibly damaging	0.69
R7731:Fzd6	UTSW	15	38,897,327 (GRCm39)	missense	probably damaging	1.00
R7922:Fzd6	UTSW	15	38,894,503 (GRCm39)	missense	probably damaging	1.00
R8195:Fzd6	UTSW	15	38,894,959 (GRCm39)	missense	probably damaging	1.00
R8985:Fzd6	UTSW	15	38,895,019 (GRCm39)	missense	probably damaging	1.00
R9196:Fzd6	UTSW	15	38,895,103 (GRCm39)	missense	probably damaging	1.00
R9196:Fzd6	UTSW	15	38,895,102 (GRCm39)	missense	probably damaging	1.00
R9212:Fzd6	UTSW	15	38,898,289 (GRCm39)	missense	probably damaging	0.97
R9276:Fzd6	UTSW	15	38,870,962 (GRCm39)	splice site	probably benign
R9350:Fzd6	UTSW	15	38,895,043 (GRCm39)	missense	probably damaging	1.00
R9384:Fzd6	UTSW	15	38,895,103 (GRCm39)	missense	probably damaging	1.00
R9384:Fzd6	UTSW	15	38,895,102 (GRCm39)	missense	probably damaging	1.00
R9650:Fzd6	UTSW	15	38,894,941 (GRCm39)	missense	probably damaging	1.00
Z1177:Fzd6	UTSW	15	38,894,736 (GRCm39)	missense	probably damaging	1.00
Z1177:Fzd6	UTSW	15	38,870,956 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGCACGGCTTGTAATAAGGCAGAC -3'
(R):5'- TCCCAGGTGATCCTGTTCACTAGC -3'

Sequencing Primer
(F):5'- TTTACAATGGCTGGCACCG -3'
(R):5'- CCTGTTCACTAGCTCATAGACATAG -3'

Posted On

2014-04-13