Mutagenetix > Incidental Mutations

Incidental Mutation 'R5914:Fbln5'

461223

Institutional Source

Beutler Lab

Gene Symbol

Fbln5

Ensembl Gene

ENSMUSG00000021186

Gene Name

fibulin 5

Synonyms

EVEC

MMRRC Submission

044111-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R5914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101746565-101819055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101760743 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 329 (D329A)

Ref Sequence

ENSEMBL: ENSMUSP00000152680 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021603
AA Change: D316A

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: D316A

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

possibly damaging
Transcript: ENSMUST00000222587
AA Change: D329A

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.1239

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

95% (87/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,538,370	R286H	possibly damaging	Het
Ank3	A	T	10: 69,992,944		probably benign	Het
Arhgap24	G	A	5: 102,552,159		probably null	Het
Arhgef2	T	C	3: 88,635,869	Y396H	probably benign	Het
Asap3	G	T	4: 136,241,409	G722C	probably benign	Het
Birc3	A	C	9: 7,857,342	*377E	probably null	Het
Cdc123	G	T	2: 5,798,363	Q282K	possibly damaging	Het
Cdkl4	C	T	17: 80,547,691		probably null	Het
Cep97	T	C	16: 55,905,457	N689S	probably benign	Het
Cfap97	T	G	8: 46,181,858	S407A	probably damaging	Het
Cfh	A	T	1: 140,136,229	N436K	probably benign	Het
Chpf2	A	T	5: 24,592,423		probably benign	Het
Cnnm2	A	G	19: 46,763,177	T469A	probably benign	Het
Col6a3	T	A	1: 90,776,200	I2275F	unknown	Het
Ctdspl2	A	T	2: 121,978,933	N122Y	probably damaging	Het
Dcaf6	A	T	1: 165,351,155	C602S	probably benign	Het
Dda1	T	A	8: 71,474,650		probably benign	Het
Dixdc1	T	C	9: 50,698,588		probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Emilin3	T	A	2: 160,909,070	N253I	probably damaging	Het
Epg5	T	A	18: 77,959,632		probably null	Het
Fam204a	A	T	19: 60,221,093	Y68*	probably null	Het
Fkbp15	T	A	4: 62,327,810		probably null	Het
Fnbp4	C	G	2: 90,774,793		probably benign	Het
Foxn2	C	A	17: 88,462,710		probably null	Het
Frem1	T	C	4: 83,001,775	D448G	probably damaging	Het
Fzd9	T	C	5: 135,249,345	Y562C	probably benign	Het
Gcn1l1	A	G	5: 115,610,135		silent	Het
Gm6003	A	G	7: 33,165,266		noncoding transcript	Het
Gnl3	C	A	14: 31,016,896	E65D	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hk2	C	T	6: 82,736,634	R461K	probably benign	Het
Ice1	A	G	13: 70,606,377	F530S	possibly damaging	Het
Ing3	T	A	6: 21,968,905	S129T	probably benign	Het
Ino80	G	A	2: 119,458,216	S3L	probably damaging	Het
Ints2	T	A	11: 86,222,174	Q839H	probably benign	Het
Kcnrg	T	C	14: 61,611,831	M247T	probably benign	Het
Kpna6	T	C	4: 129,672,692		probably benign	Het
Krtap28-13	T	A	1: 83,061,323		probably benign	Het
Lgr4	T	A	2: 109,918,272	V51E	possibly damaging	Het
Map3k5	A	C	10: 20,104,255	E836D	probably benign	Het
Mapk11	T	C	15: 89,145,835	I193V	probably benign	Het
March10	A	T	11: 105,385,482	V660E	probably damaging	Het
Matn4	T	C	2: 164,393,224	E435G	probably damaging	Het
Mre11a	G	T	9: 14,811,936	R402M	probably damaging	Het
Msr1	C	T	8: 39,581,827	G428R	probably damaging	Het
Ndufv3	C	T	17: 31,531,232	R99*	probably null	Het
Nkx6-1	C	T	5: 101,663,981	S85N	unknown	Het
Nop2	A	T	6: 125,134,728	E141D	probably benign	Het
Olfr1469	A	G	19: 13,410,962	H131R	probably benign	Het
Olfr906	G	C	9: 38,488,361	E111Q	probably damaging	Het
Paox	T	C	7: 140,129,188	S205P	probably damaging	Het
Pcdh15	T	C	10: 74,630,936	V995A	probably benign	Het
Pdcd1	T	A	1: 94,040,825	K161N	probably benign	Het
Pfkfb2	C	A	1: 130,700,095	V372L	probably damaging	Het
Phldb1	G	A	9: 44,711,651	T19I	probably damaging	Het
Pik3c2g	G	T	6: 139,622,479	V198L	probably benign	Het
Pnpla8	T	A	12: 44,295,970	L41*	probably null	Het
Postn	C	T	3: 54,373,800	Q449*	probably null	Het
Ppp1r3a	C	T	6: 14,718,989	S642N	probably benign	Het
Ptpn23	G	A	9: 110,385,443		probably benign	Het
Ptprj	T	C	2: 90,453,340	N923S	possibly damaging	Het
Rai1	T	C	11: 60,187,804	V898A	probably benign	Het
Rasgef1a	A	T	6: 118,080,554	Y72F	possibly damaging	Het
Serpinb7	T	C	1: 107,451,850	V329A	probably damaging	Het
Slc24a4	T	A	12: 102,234,790	I311N	probably damaging	Het
Slc45a1	C	A	4: 150,629,540	L749F	possibly damaging	Het
Spon1	G	A	7: 114,030,821	D428N	probably damaging	Het
Tcf7l2	G	A	19: 55,898,560	E2K	probably benign	Het
Thoc5	A	G	11: 4,920,416	M472V	possibly damaging	Het
Tm6sf2	T	C	8: 70,075,563	Y121H	probably damaging	Het
Tmc4	T	A	7: 3,672,009	D221V	probably benign	Het
Trim30b	A	T	7: 104,357,365	S95T	probably damaging	Het
Trip12	T	C	1: 84,763,458	E571G	probably damaging	Het
Ttn	T	C	2: 76,951,312		probably null	Het
Ubp1	A	T	9: 113,956,739	R161W	probably benign	Het
Usp21	G	A	1: 171,282,171		probably benign	Het
Vmn1r61	T	A	7: 5,610,530	R262W	probably damaging	Het
Vmn2r67	A	T	7: 85,151,836	D297E	probably damaging	Het
Vwa5a	T	C	9: 38,741,742	L784S	probably benign	Het
Vwc2	G	A	11: 11,154,244	V259M	probably damaging	Het
Zeb2	T	C	2: 44,997,052	I596M	probably benign	Het
Zgrf1	T	A	3: 127,561,023	L97H	probably damaging	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
R0368:Fbln5	UTSW	12	101809714	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACGTATGCTTTCCATGCAGG -3'
(R):5'- AAGATGCAAGTGGCTCTCAC -3'

Sequencing Primer
(F):5'- GGTCTGCCTTTAGGACTTCAGAAAC -3'
(R):5'- GTGGCTCTCACTCTTATCCTC -3'

Posted On

2017-02-28