Mutagenetix > Incidental Mutation

Incidental Mutation 'R7684:Fzd10'

592933

Institutional Source

Beutler Lab

Gene Symbol

Fzd10

Ensembl Gene

ENSMUSG00000081683

Gene Name

frizzled class receptor 10

Synonyms

Fz-10

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128600844-128604093 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128601416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 67 (I67V)

Ref Sequence

ENSEMBL: ENSMUSP00000114114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117102]

AlphaFold

Q8BKG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117102
AA Change: I67V

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114114
Gene: ENSMUSG00000081683
AA Change: I67V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FRI	34	153	7.83e-68	SMART
Frizzled	218	542	2.62e-207	SMART

Meta Mutation Damage Score

0.1222

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous 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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,612,540	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807	F60S	probably damaging	Het
Adam6b	G	A	12: 113,491,576	W671*	probably null	Het
Ankrd36	A	G	11: 5,570,113	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,281,828	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,819,663	M659K	probably benign	Het
Cacna1h	A	G	17: 25,389,372	Y854H	probably damaging	Het
Chd3	A	T	11: 69,357,866	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,562,447	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,649,247	D58E	probably damaging	Het
Cul9	T	G	17: 46,509,889	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,518,352	F11I	probably benign	Het
Cysrt1	A	T	2: 25,239,082	C139*	probably null	Het
Dnajc16	A	G	4: 141,774,568	V317A	probably benign	Het
Dnmt3a	T	C	12: 3,897,340	V437A	probably benign	Het
Dok5	T	C	2: 170,841,424	C202R	probably damaging	Het
Dusp11	T	A	6: 85,950,560	R164S	probably damaging	Het
Dysf	T	C	6: 84,100,135	S648P	probably benign	Het
Egfem1	A	T	3: 29,690,185	R581S	probably damaging	Het
Enpep	A	G	3: 129,321,445	F226S	probably damaging	Het
Ep400	A	G	5: 110,697,352	I1541T	unknown	Het
Exd1	A	G	2: 119,520,203	S526P	probably damaging	Het
Fam118a	A	G	15: 85,058,781	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,690,645	N193S	probably benign	Het
Fat3	A	G	9: 15,988,268		probably null	Het
Flg2	T	C	3: 93,219,649	V1956A	unknown	Het
Gckr	A	T	5: 31,307,797	D370V	probably damaging	Het
Gm8797	A	T	3: 5,751,088	Q62L	probably benign	Het
H6pd	G	T	4: 149,996,062	Q109K	probably benign	Het
Higd1a	T	C	9: 121,850,256	K55R	possibly damaging	Het
Il1b	C	T	2: 129,367,357	V118I	probably benign	Het
Insr	T	C	8: 3,169,753	N923S	possibly damaging	Het
Krit1	A	G	5: 3,830,723	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,127,025	D1070G	probably null	Het
Lpcat2	T	A	8: 92,909,195	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,911,563	F427Y	probably benign	Het
Mtx1	A	T	3: 89,210,432	I258K	possibly damaging	Het
Nckap5	T	C	1: 126,026,857	T653A	probably benign	Het
Npas3	A	T	12: 54,068,826	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,472,565	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,471,176	K154N	probably damaging	Het
Oard1	T	C	17: 48,416,698	L124P	probably damaging	Het
Olfr1122	T	C	2: 87,388,028	S108P	probably damaging	Het
Olfr1337	T	C	4: 118,782,274	M104V	probably benign	Het
Olfr615	T	C	7: 103,561,218	F247S	probably benign	Het
Olfr642	G	A	7: 104,049,460	T298I	probably damaging	Het
Ovgp1	A	T	3: 105,979,956	T223S	probably damaging	Het
Pik3c2a	A	T	7: 116,388,077	Y536*	probably null	Het
Plekho2	A	T	9: 65,559,534		probably null	Het
Prelid3b	T	C	2: 174,468,417		probably null	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,670,907	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,810,354	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,490,840	V177L	probably benign	Het
Slc22a8	A	G	19: 8,609,930	I451M	probably benign	Het
Slc39a12	T	C	2: 14,449,859	S563P	probably damaging	Het
Snx20	T	C	8: 88,627,235	D289G	probably benign	Het
Sptb	A	G	12: 76,612,195	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,316,486	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,147,733		probably benign	Het
Tfap2b	G	C	1: 19,214,287	D140H	probably damaging	Het
Thy1	G	A	9: 44,046,558	G13D	unknown	Het
Ticam1	A	G	17: 56,269,984	S704P	unknown	Het
Tmem151b	A	G	17: 45,547,003	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,863,502	N452S	probably benign	Het
Ttc9c	A	G	19: 8,811,764	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,147,868	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,840,625	S245Y	probably damaging	Het
Urb1	A	T	16: 90,786,118	L621*	probably null	Het
Wdr72	A	T	9: 74,147,010	T224S	probably damaging	Het
Zc3h18	T	G	8: 122,407,426	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908	N291K	probably benign	Het
Zfp609	T	C	9: 65,731,080	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,613,342	H303Q	probably damaging	Het

Other mutations in Fzd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Fzd10	APN	5	128601528	missense	probably damaging	1.00
IGL02354:Fzd10	APN	5	128601868	missense	possibly damaging	0.89
IGL02361:Fzd10	APN	5	128601868	missense	possibly damaging	0.89
IGL03088:Fzd10	APN	5	128602605	missense	possibly damaging	0.81
R0530:Fzd10	UTSW	5	128602013	missense	probably damaging	1.00
R0645:Fzd10	UTSW	5	128602598	missense	possibly damaging	0.94
R1515:Fzd10	UTSW	5	128602559	missense	probably damaging	1.00
R3930:Fzd10	UTSW	5	128602412	missense	probably damaging	1.00
R4467:Fzd10	UTSW	5	128601276	missense	probably benign	0.01
R4976:Fzd10	UTSW	5	128602114	nonsense	probably null
R5156:Fzd10	UTSW	5	128601302	missense	possibly damaging	0.68
R5202:Fzd10	UTSW	5	128602116	missense	possibly damaging	0.78
R5874:Fzd10	UTSW	5	128601300	missense	probably benign	0.41
R6238:Fzd10	UTSW	5	128602931	missense	probably damaging	0.99
R6921:Fzd10	UTSW	5	128601582	missense	probably damaging	0.99
R8093:Fzd10	UTSW	5	128602239	missense	probably benign	0.14
R9011:Fzd10	UTSW	5	128602305	missense	probably damaging	1.00
R9013:Fzd10	UTSW	5	128602305	missense	probably damaging	1.00
R9014:Fzd10	UTSW	5	128602305	missense	probably damaging	1.00
R9332:Fzd10	UTSW	5	128601252	missense	possibly damaging	0.92
R9603:Fzd10	UTSW	5	128601707	missense	probably benign	0.00
Z1088:Fzd10	UTSW	5	128601246	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCTGCAGGTGATGATAGGC -3'
(R):5'- ACTTGCCTGGGTTGTCACAAC -3'

Sequencing Primer
(F):5'- ATGATAGGCTCGTGCACG -3'
(R):5'- GGCCACCTGAATTTGAACTG -3'

Posted On

2019-11-12