Mutagenetix > Incidental Mutation

Incidental Mutation 'R6136:Fzd7'

488328

Institutional Source

Beutler Lab

Gene Symbol

Fzd7

Ensembl Gene

ENSMUSG00000041075

Gene Name

frizzled class receptor 7

Synonyms

Fz7

MMRRC Submission

044283-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R6136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59521583-59526114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59522419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 101 (F101V)

Ref Sequence

ENSEMBL: ENSMUSP00000109884 (fasta)

Gene Model

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

AlphaFold

Q61090

Predicted Effect

probably damaging
Transcript: ENSMUST00000114246
AA Change: F101V

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

SMART Domains

Protein: ENSMUSP00000109884
Gene: ENSMUSG00000041075
AA Change: F101V

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

0.8533

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,181 (GRCm39)	G124C	unknown	Het
3425401B19Rik	A	T	14: 32,384,239 (GRCm39)	D575E	possibly damaging	Het
Abca15	A	T	7: 119,939,272 (GRCm39)	H222L	possibly damaging	Het
Arhgef18	T	C	8: 3,504,507 (GRCm39)	V1013A	probably benign	Het
Arsj	T	C	3: 126,158,424 (GRCm39)	M1T	probably null	Het
Atp10a	A	C	7: 58,478,088 (GRCm39)	Q1377P	probably benign	Het
Atrip	T	A	9: 108,900,804 (GRCm39)	E178D	probably damaging	Het
Cblif	G	A	19: 11,727,649 (GRCm39)	A158T	probably damaging	Het
Chadl	T	C	15: 81,577,755 (GRCm39)	N625D	probably benign	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Cox11	T	C	11: 90,535,221 (GRCm39)	L84P	probably damaging	Het
Dchs1	T	G	7: 105,410,132 (GRCm39)	T1747P	probably benign	Het
Dnah12	A	G	14: 26,597,227 (GRCm39)	K3529E	probably damaging	Het
Ecd	T	C	14: 20,370,859 (GRCm39)	N620S	probably damaging	Het
Fbn1	T	A	2: 125,245,052 (GRCm39)	K278N	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Galnt13	G	T	2: 54,406,491 (GRCm39)		probably benign	Het
Gm32647	C	T	7: 94,124,939 (GRCm39)			Het
Gm5624	A	T	14: 44,797,333 (GRCm39)	D152E	probably benign	Het
Heatr6	T	A	11: 83,663,329 (GRCm39)	V664E	possibly damaging	Het
Hpgd	A	G	8: 56,747,987 (GRCm39)	D36G	probably damaging	Het
Ifnlr1	A	G	4: 135,431,108 (GRCm39)	T199A	possibly damaging	Het
Kalrn	T	G	16: 34,177,481 (GRCm39)	D228A	probably damaging	Het
Miox	T	C	15: 89,219,524 (GRCm39)	M47T	probably damaging	Het
Nampt	A	T	12: 32,880,301 (GRCm39)	I65F	probably benign	Het
Ncf1	T	C	5: 134,255,487 (GRCm39)	K135E	probably damaging	Het
Nop53	G	A	7: 15,672,314 (GRCm39)	Q452*	probably null	Het
Or8u10	A	G	2: 85,915,245 (GRCm39)	L292S	probably damaging	Het
Pik3cg	A	G	12: 32,254,358 (GRCm39)	V543A	probably benign	Het
Ralgds	T	C	2: 28,440,577 (GRCm39)		probably null	Het
Rap1a	A	G	3: 105,657,598 (GRCm39)	V7A	probably damaging	Het
Rasal1	T	C	5: 120,813,543 (GRCm39)	V639A	possibly damaging	Het
Rassf8	A	G	6: 145,761,382 (GRCm39)	N236S	probably benign	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sbno1	T	C	5: 124,516,554 (GRCm39)	D1272G	probably benign	Het
Setx	A	G	2: 29,038,039 (GRCm39)	D1508G	probably benign	Het
Slc1a1	T	A	19: 28,882,810 (GRCm39)	L358Q	probably damaging	Het
Slc7a12	C	A	3: 14,564,186 (GRCm39)	L20I	probably benign	Het
Spata31g1	T	C	4: 42,972,853 (GRCm39)	S729P	probably damaging	Het
Spats2l	C	T	1: 57,941,302 (GRCm39)	T187M	probably damaging	Het
Specc1l	A	G	10: 75,082,494 (GRCm39)	D647G	probably benign	Het
Steap4	G	A	5: 8,028,562 (GRCm39)	R380Q	probably damaging	Het
Syne2	A	G	12: 75,952,099 (GRCm39)	S456G	probably benign	Het
Tfcp2	G	T	15: 100,410,194 (GRCm39)	T391N	probably damaging	Het
Tns2	T	A	15: 102,015,465 (GRCm39)	D122E	probably damaging	Het
Tshr	A	G	12: 91,505,008 (GRCm39)	M649V	probably benign	Het
Ubr3	A	G	2: 69,824,107 (GRCm39)	T1440A	probably benign	Het
Urb2	A	G	8: 124,756,831 (GRCm39)	D846G	probably benign	Het
Vmn1r202	T	C	13: 22,685,632 (GRCm39)	T262A	possibly damaging	Het
Vmn2r61	G	T	7: 41,916,455 (GRCm39)	W356L	probably damaging	Het
Wdr11	T	A	7: 129,220,427 (GRCm39)	M605K	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	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
R6170:Fzd7	UTSW	1	59,523,004 (GRCm39)	missense	probably benign	0.01
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'- GAGAAAGGCATCTCGGTACC -3'
(R):5'- TACATGAGGCCGTTAGCAC -3'

Sequencing Primer
(F):5'- GCATCTCGGTACCGGACC -3'
(R):5'- TCACCTAGGAAGCGGTAGC -3'

Posted On

2017-10-10