Mutagenetix > Incidental Mutations

Incidental Mutation 'R5004:Fbln5'

390091

Institutional Source

Beutler Lab

Gene Symbol

Fbln5

Ensembl Gene

ENSMUSG00000021186

Gene Name

fibulin 5

Synonyms

EVEC

MMRRC Submission

042597-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R5004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101746565-101819055 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101760821 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 303 (N303I)

Ref Sequence

ENSEMBL: ENSMUSP00000152680 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021603
AA Change: N290I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: N290I

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 damaging
Transcript: ENSMUST00000222587
AA Change: N303I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	A	C	8: 13,555,927	D189E	possibly damaging	Het
2610528A11Rik	A	T	14: 37,102,665	C60S	probably damaging	Het
Abca5	C	T	11: 110,279,376	E1298K	probably damaging	Het
Actg1	C	A	11: 120,348,160		probably benign	Het
Add2	A	G	6: 86,096,746	T206A	probably benign	Het
Alox12e	A	G	11: 70,321,504	V116A	probably benign	Het
Ankrd27	T	A	7: 35,608,375	D346E	probably damaging	Het
Arfgap3	T	A	15: 83,310,296	S391C	possibly damaging	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Cars2	C	T	8: 11,518,956		probably null	Het
Cav3	A	G	6: 112,459,924	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,932,945	R101H	probably damaging	Het
Cops7b	A	G	1: 86,587,410		probably benign	Het
Cyp4a12b	C	T	4: 115,438,113	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,601,041	S23P	probably damaging	Het
Cyp4f13	T	G	17: 32,925,786	I275L	probably benign	Het
Dlgap1	T	A	17: 70,718,227		probably null	Het
Dnajc12	A	T	10: 63,386,707	I4L	probably benign	Het
Ephb2	T	A	4: 136,659,699	D739V	possibly damaging	Het
Fam169a	A	G	13: 97,097,592	Y124C	probably damaging	Het
Fdxr	T	C	11: 115,269,573	E352G	probably benign	Het
Fhad1	T	G	4: 142,002,599		probably null	Het
Fhod1	C	T	8: 105,336,945		probably benign	Het
Fndc7	G	A	3: 108,883,473	T79M	probably damaging	Het
Fry	A	G	5: 150,433,604	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,504,839	H336R	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm13088	T	C	4: 143,654,136	Q439R	probably benign	Het
Hacl1	C	A	14: 31,619,039	C346F	probably benign	Het
Hectd4	C	A	5: 121,328,199		probably null	Het
Hectd4	C	T	5: 121,329,565	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381	E289D	probably benign	Het
Itih4	T	G	14: 30,892,672	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,226,502	K91*	probably null	Het
Kiz	C	G	2: 146,969,979	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,359,324		probably null	Het
Kndc1	C	A	7: 139,932,879	C1514*	probably null	Het
Lipo2	A	G	19: 33,721,676		probably null	Het
Macf1	T	C	4: 123,385,475	D5921G	probably damaging	Het
Mau2	A	G	8: 70,025,887	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,641,804	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,170,268	Y3H	probably damaging	Het
Mon1b	T	C	8: 113,639,227	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,981,787	L22R	probably benign	Het
Msln	T	G	17: 25,754,219	M1L	possibly damaging	Het
Myh15	T	A	16: 49,132,048	I827N	probably damaging	Het
Myh7	T	C	14: 54,971,683	D1866G	probably damaging	Het
Myo5b	T	G	18: 74,744,773		probably null	Het
Nlrc5	T	G	8: 94,521,216		probably benign	Het
Nup210l	A	T	3: 90,180,165	R1082*	probably null	Het
Olfr1289	G	A	2: 111,483,660	V105I	possibly damaging	Het
Olfr360	A	G	2: 37,068,410	Y35C	probably damaging	Het
Olfr487	T	A	7: 108,212,116	K138*	probably null	Het
Olfr860	T	C	9: 19,846,102	I172M	probably benign	Het
Pi4ka	A	T	16: 17,377,169	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,149,577	A690E	probably benign	Het
Prickle2	A	T	6: 92,416,755	D312E	probably benign	Het
Prrc2a	T	A	17: 35,149,998	N2021Y	probably benign	Het
Prss3	T	C	6: 41,373,902	Y218C	probably damaging	Het
Psg20	T	C	7: 18,680,912	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,586,063	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,717,666	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 105,618,820		probably null	Het
Rnf31	T	C	14: 55,592,182	L68P	probably damaging	Het
Rsph6a	A	T	7: 19,057,740	E278V	possibly damaging	Het
Rubcnl	C	T	14: 75,032,177	Q92*	probably null	Het
Scfd1	A	G	12: 51,444,994	R580G	probably benign	Het
Sec31a	A	T	5: 100,368,333	N967K	probably damaging	Het
Sema4b	C	A	7: 80,216,345	T154N	probably benign	Het
Sept14	T	A	5: 129,692,976	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,150,355	S235T	probably benign	Het
Setd4	G	T	16: 93,591,245	H118N	probably benign	Het
Siglec1	C	T	2: 131,069,869	V1697M	probably benign	Het
Siglec1	A	T	2: 131,073,411	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,161,111	H402Q	probably damaging	Het
Sp3	A	T	2: 72,938,289	V666D	probably benign	Het
Spef2	T	G	15: 9,578,327	S1704R	probably benign	Het
Spidr	A	T	16: 16,118,942	W100R	possibly damaging	Het
Steap1	G	T	5: 5,742,829	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,671,133	T115S	probably benign	Het
Tet2	A	T	3: 133,487,379	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,721,046	V170G	probably benign	Het
Tom1	T	C	8: 75,052,002	L99P	probably damaging	Het
Trim11	C	A	11: 58,981,338		probably benign	Het
Trio	T	C	15: 27,755,178	K955R	probably damaging	Het
Tubd1	C	T	11: 86,561,320	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,841,677	M13I	probably benign	Het
Usp29	A	G	7: 6,962,159	M334V	probably benign	Het
Usp34	A	G	11: 23,464,586	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,748,273	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,220,380	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,244,849	F772I	probably damaging	Het
Vmn2r51	T	A	7: 10,088,005	E584D	probably benign	Het
Zbtb22	G	T	17: 33,917,243	A121S	probably benign	Het
Zfp273	A	T	13: 67,825,554	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,490,044	V335M	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACTGACAGTCTCCTGAGCCAG -3'
(R):5'- GGTGACAGACATCAGAAACGTC -3'

Sequencing Primer
(F):5'- TGAGCCAGGTCCCCATTC -3'
(R):5'- CACTCAAATTACTATGAACGTGGGC -3'

Posted On

2016-06-06