Mutagenetix > Incidental Mutation

Incidental Mutation 'R0368:Fbln5'

30334

Institutional Source

Beutler Lab

Gene Symbol

Fbln5

Ensembl Gene

ENSMUSG00000021186

Gene Name

fibulin 5

Synonyms

EVEC

MMRRC Submission

038574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R0368 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

101746565-101819055 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 101809714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]

AlphaFold

Q9WVH9

Predicted Effect

probably null
Transcript: ENSMUST00000021603

SMART Domains

Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186

Domain	Start	End	E-Value	Type
EGF_like	42	86	4.71e-1	SMART
EGF_CA	127	167	4.81e-8	SMART
EGF_CA	168	206	2.31e-10	SMART
EGF_CA	207	246	5.31e-10	SMART
EGF_CA	247	287	2.22e-12	SMART
EGF_like	288	333	8.14e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221373

Predicted Effect

probably null
Transcript: ENSMUST00000222587

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 9,008,350	K2333*	probably null	Het
Aox4	C	T	1: 58,213,079	L38F	probably benign	Het
Arhgef15	T	C	11: 68,954,693	E111G	probably damaging	Het
Atp8a2	A	T	14: 59,860,212	I789N	probably damaging	Het
Cdca2	A	G	14: 67,700,347	S286P	possibly damaging	Het
Chrnb1	T	A	11: 69,784,757	K457M	probably damaging	Het
Clec2g	A	G	6: 128,980,261	I61V	possibly damaging	Het
Cyb5r3	G	A	15: 83,158,792	A233V	probably benign	Het
Cyp4a10	T	A	4: 115,525,377	L278*	probably null	Het
Dnmt1	T	C	9: 20,941,757	E56G	probably damaging	Het
Fam160b1	A	G	19: 57,368,578	T34A	possibly damaging	Het
Fam166a	T	A	2: 25,220,673	D164E	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gabrr3	A	G	16: 59,440,596	D289G	probably damaging	Het
Gpr45	T	C	1: 43,033,016	L273P	probably damaging	Het
Hkdc1	T	C	10: 62,411,707	E125G	probably null	Het
Il25	A	G	14: 54,935,174		probably null	Het
Itfg1	A	T	8: 85,764,407	W298R	probably damaging	Het
Kank1	A	T	19: 25,410,603	K547*	probably null	Het
Lama5	G	A	2: 180,181,230	R2748*	probably null	Het
Lrp4	C	T	2: 91,477,734	T508I	probably damaging	Het
Map3k10	C	T	7: 27,663,360	V434I	probably damaging	Het
Map3k6	A	G	4: 133,252,659	M1265V	probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Msh4	T	A	3: 153,888,825	Y113F	probably damaging	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Nrip1	A	G	16: 76,294,016	S218P	probably damaging	Het
Olfr1281	T	C	2: 111,328,787	Y123H	probably damaging	Het
Olfr1287	T	C	2: 111,449,788	I216T	probably benign	Het
Olig1	C	T	16: 91,270,652	S259F	probably damaging	Het
Osbpl9	A	G	4: 109,066,932	V499A	probably damaging	Het
Pafah2	T	C	4: 134,422,491	V371A	probably benign	Het
Pkp1	T	A	1: 135,875,683	M712L	probably benign	Het
Pkp1	T	C	1: 135,886,852	S244G	probably benign	Het
Ppp1r3a	T	C	6: 14,718,960	T652A	probably benign	Het
Rab21	A	T	10: 115,298,890	V108E	probably damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Scd2	G	A	19: 44,301,246	V227I	probably benign	Het
Sema5b	T	A	16: 35,628,100	V82E	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc13a2	A	T	11: 78,404,800	L80*	probably null	Het
Slc1a5	C	T	7: 16,782,178	P93L	probably damaging	Het
Slc35b2	T	C	17: 45,566,463	V172A	probably benign	Het
Slfn8	A	G	11: 83,017,132	L195P	probably damaging	Het
Smox	G	A	2: 131,522,158	S320N	probably damaging	Het
Sptan1	T	C	2: 29,993,915	V589A	probably benign	Het
Stim2	G	A	5: 54,110,140		probably null	Het
V1ra8	A	G	6: 90,202,962	D49G	probably damaging	Het
Vmn1r233	A	T	17: 20,994,607	V27D	possibly damaging	Het
Vmn2r98	A	T	17: 19,065,827	K196*	probably null	Het
Wdr77	T	C	3: 105,962,066		probably null	Het

Other mutations in Fbln5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Fbln5	APN	12	101809916	missense	probably damaging	0.98
IGL01357:Fbln5	APN	12	101750887	missense	probably damaging	1.00
IGL01860:Fbln5	APN	12	101809869	missense	probably damaging	1.00
IGL02567:Fbln5	APN	12	101761800	critical splice donor site	probably null
BB004:Fbln5	UTSW	12	101818388	start gained	probably benign
BB014:Fbln5	UTSW	12	101818388	start gained	probably benign
R1080:Fbln5	UTSW	12	101750872	missense	possibly damaging	0.90
R1606:Fbln5	UTSW	12	101765198	missense	probably benign	0.04
R2107:Fbln5	UTSW	12	101771269	missense	probably damaging	1.00
R2138:Fbln5	UTSW	12	101761920	missense	probably benign	0.32
R3694:Fbln5	UTSW	12	101765252	missense	probably benign	0.00
R3918:Fbln5	UTSW	12	101750791	missense	probably damaging	1.00
R4166:Fbln5	UTSW	12	101757359	missense	probably damaging	1.00
R4626:Fbln5	UTSW	12	101760827	missense	probably damaging	1.00
R5004:Fbln5	UTSW	12	101760821	missense	probably damaging	0.99
R5264:Fbln5	UTSW	12	101757444	missense	possibly damaging	0.94
R5364:Fbln5	UTSW	12	101771364	missense	probably damaging	0.98
R5767:Fbln5	UTSW	12	101765209	missense	probably damaging	0.97
R5889:Fbln5	UTSW	12	101765226	missense	probably damaging	1.00
R5914:Fbln5	UTSW	12	101760743	missense	possibly damaging	0.78
R6427:Fbln5	UTSW	12	101761822	missense	possibly damaging	0.84
R7079:Fbln5	UTSW	12	101757408	missense	probably damaging	1.00
R7343:Fbln5	UTSW	12	101760816	missense	probably damaging	1.00
R7803:Fbln5	UTSW	12	101761818	missense	probably damaging	1.00
R7927:Fbln5	UTSW	12	101818388	start gained	probably benign
R8190:Fbln5	UTSW	12	101757296	missense	probably damaging	0.99
R8381:Fbln5	UTSW	12	101761855	missense	probably benign
R8747:Fbln5	UTSW	12	101768495	missense	probably damaging	1.00
R8857:Fbln5	UTSW	12	101760731	missense	probably damaging	1.00
R9035:Fbln5	UTSW	12	101750782	missense	probably damaging	1.00
R9288:Fbln5	UTSW	12	101768469	nonsense	probably null
R9296:Fbln5	UTSW	12	101814594	missense	probably benign	0.01
R9341:Fbln5	UTSW	12	101771292	missense	probably damaging	1.00
R9343:Fbln5	UTSW	12	101771292	missense	probably damaging	1.00
R9481:Fbln5	UTSW	12	101768469	nonsense	probably null
R9562:Fbln5	UTSW	12	101768463	missense	probably damaging	1.00
R9565:Fbln5	UTSW	12	101768463	missense	probably damaging	1.00
R9619:Fbln5	UTSW	12	101757293	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTTCCGCAGCAATACTCAATCC -3'
(R):5'- TCGAACCAACCCAGTGTATCGAGG -3'

Sequencing Primer
(F):5'- gatggatggatggatggatgg -3'
(R):5'- GGGCCTTACTCAAATCCCTAC -3'

Posted On

2013-04-24