Mutagenetix > Incidental Mutation

Incidental Mutation 'R6170:Fzd7'

490352

Institutional Source

Beutler Lab

Gene Symbol

Fzd7

Ensembl Gene

ENSMUSG00000041075

Gene Name

frizzled class receptor 7

Synonyms

Fz7

MMRRC Submission

044431-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R6170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59521583-59526114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59523004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 296 (M296V)

Ref Sequence

ENSEMBL: ENSMUSP00000109884 (fasta)

Gene Model

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

AlphaFold

Q61090

Predicted Effect

probably benign
Transcript: ENSMUST00000114246
AA Change: M296V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: M296V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180778

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (68/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,325,555 (GRCm39)	S90R	probably benign	Het
4930523C07Rik	C	A	1: 159,902,743 (GRCm39)	N4K	possibly damaging	Het
Adgrl2	A	G	3: 148,528,645 (GRCm39)	S1167P	probably damaging	Het
Akr1e1	T	C	13: 4,652,723 (GRCm39)	D94G	possibly damaging	Het
Anln	T	C	9: 22,279,793 (GRCm39)	N466D	probably benign	Het
Atp9b	T	A	18: 80,920,562 (GRCm39)	I231L	probably benign	Het
Bpifb3	T	A	2: 153,761,557 (GRCm39)	M2K	unknown	Het
Btbd3	T	C	2: 138,120,862 (GRCm39)	L12P	probably damaging	Het
Btnl6	T	A	17: 34,734,480 (GRCm39)	Y94F	probably damaging	Het
Cab39	T	A	1: 85,746,176 (GRCm39)	L19*	probably null	Het
Cacna2d2	A	G	9: 107,404,533 (GRCm39)	D1114G	probably damaging	Het
Cdcp3	A	T	7: 130,776,216 (GRCm39)		probably null	Het
Cdh11	A	G	8: 103,361,442 (GRCm39)	V632A	probably benign	Het
Cemip	T	G	7: 83,596,438 (GRCm39)	T1109P	possibly damaging	Het
Col7a1	C	A	9: 108,795,511 (GRCm39)	P1522Q	unknown	Het
Colgalt1	C	T	8: 72,074,514 (GRCm39)	L409F	probably damaging	Het
Crtc2	A	G	3: 90,166,907 (GRCm39)	M125V	probably benign	Het
Cyp2b19	T	G	7: 26,458,519 (GRCm39)	M78R	possibly damaging	Het
Cyp4a12a	A	C	4: 115,184,643 (GRCm39)	D308A	possibly damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Ddah1	A	G	3: 145,597,261 (GRCm39)	D166G	probably benign	Het
Dmtn	T	C	14: 70,854,795 (GRCm39)	D60G	probably damaging	Het
Dsg1a	A	T	18: 20,469,043 (GRCm39)	D607V	probably damaging	Het
Ebf1	T	A	11: 44,774,712 (GRCm39)	N236K	probably damaging	Het
Emc1	A	G	4: 139,093,689 (GRCm39)	T600A	probably benign	Het
Fbxo33	T	C	12: 59,251,435 (GRCm39)	N360S	probably benign	Het
Fbxw5	A	G	2: 25,393,615 (GRCm39)	D72G	possibly damaging	Het
Fhad1	T	A	4: 141,618,263 (GRCm39)	K1388*	probably null	Het
Gdpd3	T	C	7: 126,370,336 (GRCm39)	I257T	probably benign	Het
Glt28d2	T	G	3: 85,779,248 (GRCm39)	D75A	possibly damaging	Het
Gm14295	G	A	2: 176,502,937 (GRCm39)		probably benign	Het
Gm28729	A	G	9: 96,401,494 (GRCm39)	I98T	probably damaging	Het
Gm4924	C	T	10: 82,213,065 (GRCm39)	Q288*	probably null	Het
Gpr150	T	C	13: 76,204,676 (GRCm39)	M90V	probably damaging	Het
Ireb2	G	A	9: 54,794,656 (GRCm39)	V331I	probably benign	Het
Lpcat2b	A	T	5: 107,581,760 (GRCm39)	Y363F	probably benign	Het
Me2	T	C	18: 73,918,852 (GRCm39)	I410V	probably benign	Het
Naxe	T	C	3: 87,965,537 (GRCm39)	E58G	probably damaging	Het
Nlrp10	T	A	7: 108,523,671 (GRCm39)	D603V	probably benign	Het
Nlrp1b	T	A	11: 71,046,905 (GRCm39)	Y1149F	probably damaging	Het
Nrg1	A	G	8: 32,308,508 (GRCm39)	Y503H	probably damaging	Het
Nxpe4	C	T	9: 48,304,104 (GRCm39)	P64S	probably benign	Het
Pkd1l3	A	T	8: 110,349,811 (GRCm39)	T219S	unknown	Het
Plagl1	T	C	10: 13,002,975 (GRCm39)	L81P	probably damaging	Het
Poglut3	T	C	9: 53,311,042 (GRCm39)	V481A	possibly damaging	Het
Polq	A	G	16: 36,866,174 (GRCm39)	Q457R	possibly damaging	Het
Potefam1	A	G	2: 111,058,293 (GRCm39)	Y167H	probably benign	Het
Ppargc1a	C	A	5: 51,631,253 (GRCm39)	A459S	probably damaging	Het
Ppp1r13l	A	G	7: 19,104,362 (GRCm39)	D253G	probably benign	Het
Prl2c2	T	A	13: 13,176,757 (GRCm39)	N55Y	probably damaging	Het
Prlr	T	C	15: 10,328,935 (GRCm39)	F470S	probably benign	Het
Serpina12	T	C	12: 104,004,500 (GRCm39)	D44G	probably benign	Het
Sfxn1	T	G	13: 54,260,526 (GRCm39)	S291R	probably benign	Het
Sipa1l1	A	G	12: 82,388,446 (GRCm39)	D224G	probably benign	Het
Slc30a7	A	G	3: 115,784,392 (GRCm39)	F123S	probably damaging	Het
Spata31f1a	A	G	4: 42,849,345 (GRCm39)	V937A	probably benign	Het
Stox2	T	A	8: 47,645,055 (GRCm39)	M802L	probably benign	Het
Tmem150a	G	A	6: 72,333,728 (GRCm39)	R30H	probably benign	Het
Tmem210	G	A	2: 25,178,776 (GRCm39)		probably null	Het
Tor3a	T	C	1: 156,484,143 (GRCm39)	N269S	possibly damaging	Het
Trp63	A	C	16: 25,703,603 (GRCm39)	N423T	probably benign	Het
Vmn2r60	A	G	7: 41,785,045 (GRCm39)	I86V	possibly damaging	Het
Vmn2r74	T	C	7: 85,606,348 (GRCm39)	I333V	probably benign	Het
Vwa7	C	A	17: 35,240,186 (GRCm39)	H385N	possibly damaging	Het
Wdr1	T	C	5: 38,687,014 (GRCm39)		probably null	Het
Wdr31	A	G	4: 62,381,661 (GRCm39)	Y57H	probably damaging	Het
Zbtb44	T	A	9: 30,964,678 (GRCm39)	H29Q	probably damaging	Het
Zfp532	T	A	18: 65,757,509 (GRCm39)	S481T	probably damaging	Het
Zfp955b	G	T	17: 33,521,084 (GRCm39)	R184S	probably benign	Het

Other mutations in Fzd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Fzd7	APN	1	59,523,539 (GRCm39)	missense	probably damaging	1.00
IGL01505:Fzd7	APN	1	59,523,062 (GRCm39)	missense	probably benign	0.00
IGL02647:Fzd7	APN	1	59,523,554 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Fzd7	UTSW	1	59,523,466 (GRCm39)	missense	probably benign	0.44
R0479:Fzd7	UTSW	1	59,522,867 (GRCm39)	missense	probably damaging	1.00
R0551:Fzd7	UTSW	1	59,522,443 (GRCm39)	missense	probably damaging	0.99
R0639:Fzd7	UTSW	1	59,523,719 (GRCm39)	missense	probably damaging	1.00
R1587:Fzd7	UTSW	1	59,522,165 (GRCm39)	missense	possibly damaging	0.47
R2056:Fzd7	UTSW	1	59,523,361 (GRCm39)	missense	probably benign	0.00
R2566:Fzd7	UTSW	1	59,523,695 (GRCm39)	missense	possibly damaging	0.84
R2890:Fzd7	UTSW	1	59,523,593 (GRCm39)	missense	probably benign	0.27
R4078:Fzd7	UTSW	1	59,522,948 (GRCm39)	missense	possibly damaging	0.51
R4306:Fzd7	UTSW	1	59,523,566 (GRCm39)	missense	probably damaging	1.00
R4744:Fzd7	UTSW	1	59,523,595 (GRCm39)	missense	possibly damaging	0.72
R5249:Fzd7	UTSW	1	59,522,522 (GRCm39)	missense	probably damaging	1.00
R5740:Fzd7	UTSW	1	59,522,839 (GRCm39)	missense	probably benign	0.03
R5997:Fzd7	UTSW	1	59,523,703 (GRCm39)	missense	probably benign	0.01
R6136:Fzd7	UTSW	1	59,522,419 (GRCm39)	missense	probably damaging	1.00
R6476:Fzd7	UTSW	1	59,523,154 (GRCm39)	missense	probably damaging	1.00
R7234:Fzd7	UTSW	1	59,522,443 (GRCm39)	missense	probably damaging	0.99
R7753:Fzd7	UTSW	1	59,522,641 (GRCm39)	missense	probably benign
R8322:Fzd7	UTSW	1	59,522,242 (GRCm39)	missense	probably benign	0.01
R9066:Fzd7	UTSW	1	59,521,991 (GRCm39)	start gained	probably benign
R9188:Fzd7	UTSW	1	59,523,797 (GRCm39)	missense	probably benign
R9255:Fzd7	UTSW	1	59,522,495 (GRCm39)	missense	possibly damaging	0.77
R9326:Fzd7	UTSW	1	59,522,837 (GRCm39)	missense	possibly damaging	0.93
R9458:Fzd7	UTSW	1	59,523,554 (GRCm39)	missense	probably damaging	1.00
Z1088:Fzd7	UTSW	1	59,523,029 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTCATGTACTTTAAAGAAGAG -3'
(R):5'- AAGTACTGCGAGTTGGCCTC -3'

Sequencing Primer
(F):5'- AGGAGAGACGGTTCGCC -3'
(R):5'- ACTTCATGCCAGCTGCCAG -3'

Posted On

2017-10-10