Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R5914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101712824-101785314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101727002 bp (GRCm39)

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]

AlphaFold

Q9WVH9

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: 74,410,219 (GRCm39)	R286H	possibly damaging	Het
Ank3	A	T	10: 69,828,774 (GRCm39)		probably benign	Het
Arhgap24	G	A	5: 102,700,025 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,543,176 (GRCm39)	Y396H	probably benign	Het
Asap3	G	T	4: 135,968,720 (GRCm39)	G722C	probably benign	Het
Birc2	A	C	9: 7,857,343 (GRCm39)	*377E	probably null	Het
Cdc123	G	T	2: 5,803,174 (GRCm39)	Q282K	possibly damaging	Het
Cdkl4	C	T	17: 80,855,120 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
Cfap97	T	G	8: 46,634,895 (GRCm39)	S407A	probably damaging	Het
Cfh	A	T	1: 140,063,967 (GRCm39)	N436K	probably benign	Het
Chpf2	A	T	5: 24,797,421 (GRCm39)		probably benign	Het
Cnnm2	A	G	19: 46,751,616 (GRCm39)	T469A	probably benign	Het
Col6a3	T	A	1: 90,703,922 (GRCm39)	I2275F	unknown	Het
Ctdspl2	A	T	2: 121,809,414 (GRCm39)	N122Y	probably damaging	Het
Dcaf6	A	T	1: 165,178,724 (GRCm39)	C602S	probably benign	Het
Dda1	T	A	8: 71,927,294 (GRCm39)		probably benign	Het
Dixdc1	T	C	9: 50,609,888 (GRCm39)		probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Emilin3	T	A	2: 160,750,990 (GRCm39)	N253I	probably damaging	Het
Epg5	T	A	18: 78,002,847 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,209,525 (GRCm39)	Y68*	probably null	Het
Fkbp15	T	A	4: 62,246,047 (GRCm39)		probably null	Het
Fnbp4	C	G	2: 90,605,137 (GRCm39)		probably benign	Het
Foxn2	C	A	17: 88,770,138 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,920,012 (GRCm39)	D448G	probably damaging	Het
Fzd9	T	C	5: 135,278,199 (GRCm39)	Y562C	probably benign	Het
Gcn1	A	G	5: 115,748,194 (GRCm39)		silent	Het
Gm6003	A	G	7: 32,864,691 (GRCm39)		noncoding transcript	Het
Gnl3	C	A	14: 30,738,853 (GRCm39)	E65D	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,713,615 (GRCm39)	R461K	probably benign	Het
Ice1	A	G	13: 70,754,496 (GRCm39)	F530S	possibly damaging	Het
Ing3	T	A	6: 21,968,904 (GRCm39)	S129T	probably benign	Het
Ino80	G	A	2: 119,288,697 (GRCm39)	S3L	probably damaging	Het
Ints2	T	A	11: 86,113,000 (GRCm39)	Q839H	probably benign	Het
Kcnrg	T	C	14: 61,849,280 (GRCm39)	M247T	probably benign	Het
Kpna6	T	C	4: 129,566,485 (GRCm39)		probably benign	Het
Krtap28-13	T	A	1: 83,039,044 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,748,617 (GRCm39)	V51E	possibly damaging	Het
Map3k5	A	C	10: 19,980,001 (GRCm39)	E836D	probably benign	Het
Mapk11	T	C	15: 89,030,038 (GRCm39)	I193V	probably benign	Het
Marchf10	A	T	11: 105,276,308 (GRCm39)	V660E	probably damaging	Het
Matn4	T	C	2: 164,235,144 (GRCm39)	E435G	probably damaging	Het
Mre11a	G	T	9: 14,723,232 (GRCm39)	R402M	probably damaging	Het
Msr1	C	T	8: 40,034,868 (GRCm39)	G428R	probably damaging	Het
Ndufv3	C	T	17: 31,750,206 (GRCm39)	R99*	probably null	Het
Nkx6-1	C	T	5: 101,811,847 (GRCm39)	S85N	unknown	Het
Nop2	A	T	6: 125,111,691 (GRCm39)	E141D	probably benign	Het
Or5b3	A	G	19: 13,388,326 (GRCm39)	H131R	probably benign	Het
Or8b1	G	C	9: 38,399,657 (GRCm39)	E111Q	probably damaging	Het
Paox	T	C	7: 139,709,101 (GRCm39)	S205P	probably damaging	Het
Pcdh15	T	C	10: 74,466,768 (GRCm39)	V995A	probably benign	Het
Pdcd1	T	A	1: 93,968,550 (GRCm39)	K161N	probably benign	Het
Pfkfb2	C	A	1: 130,627,832 (GRCm39)	V372L	probably damaging	Het
Phldb1	G	A	9: 44,622,948 (GRCm39)	T19I	probably damaging	Het
Pik3c2g	G	T	6: 139,599,477 (GRCm39)	V198L	probably benign	Het
Pnpla8	T	A	12: 44,342,753 (GRCm39)	L41*	probably null	Het
Postn	C	T	3: 54,281,221 (GRCm39)	Q449*	probably null	Het
Ppp1r3a	C	T	6: 14,718,988 (GRCm39)	S642N	probably benign	Het
Ptpn23	G	A	9: 110,214,511 (GRCm39)		probably benign	Het
Ptprj	T	C	2: 90,283,684 (GRCm39)	N923S	possibly damaging	Het
Rai1	T	C	11: 60,078,630 (GRCm39)	V898A	probably benign	Het
Rasgef1a	A	T	6: 118,057,515 (GRCm39)	Y72F	possibly damaging	Het
Serpinb7	T	C	1: 107,379,580 (GRCm39)	V329A	probably damaging	Het
Slc24a4	T	A	12: 102,201,049 (GRCm39)	I311N	probably damaging	Het
Slc45a1	C	A	4: 150,713,997 (GRCm39)	L749F	possibly damaging	Het
Spon1	G	A	7: 113,630,056 (GRCm39)	D428N	probably damaging	Het
Tcf7l2	G	A	19: 55,886,992 (GRCm39)	E2K	probably benign	Het
Thoc5	A	G	11: 4,870,416 (GRCm39)	M472V	possibly damaging	Het
Tm6sf2	T	C	8: 70,528,213 (GRCm39)	Y121H	probably damaging	Het
Tmc4	T	A	7: 3,675,008 (GRCm39)	D221V	probably benign	Het
Trim30b	A	T	7: 104,006,572 (GRCm39)	S95T	probably damaging	Het
Trip12	T	C	1: 84,741,179 (GRCm39)	E571G	probably damaging	Het
Ttn	T	C	2: 76,781,656 (GRCm39)		probably null	Het
Ubp1	A	T	9: 113,785,807 (GRCm39)	R161W	probably benign	Het
Usp21	G	A	1: 171,109,745 (GRCm39)		probably benign	Het
Vmn1r61	T	A	7: 5,613,529 (GRCm39)	R262W	probably damaging	Het
Vmn2r67	A	T	7: 84,801,044 (GRCm39)	D297E	probably damaging	Het
Vwa5a	T	C	9: 38,653,038 (GRCm39)	L784S	probably benign	Het
Vwc2	G	A	11: 11,104,244 (GRCm39)	V259M	probably damaging	Het
Zeb2	T	C	2: 44,887,064 (GRCm39)	I596M	probably benign	Het
Zgrf1	T	A	3: 127,354,672 (GRCm39)	L97H	probably damaging	Het

Other mutations in Fbln5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Fbln5	APN	12	101,776,175 (GRCm39)	missense	probably damaging	0.98
IGL01357:Fbln5	APN	12	101,717,146 (GRCm39)	missense	probably damaging	1.00
IGL01860:Fbln5	APN	12	101,776,128 (GRCm39)	missense	probably damaging	1.00
IGL02567:Fbln5	APN	12	101,728,059 (GRCm39)	critical splice donor site	probably null
BB004:Fbln5	UTSW	12	101,784,647 (GRCm39)	start gained	probably benign
BB014:Fbln5	UTSW	12	101,784,647 (GRCm39)	start gained	probably benign
R0368:Fbln5	UTSW	12	101,775,973 (GRCm39)	critical splice donor site	probably null
R1080:Fbln5	UTSW	12	101,717,131 (GRCm39)	missense	possibly damaging	0.90
R1606:Fbln5	UTSW	12	101,731,457 (GRCm39)	missense	probably benign	0.04
R2107:Fbln5	UTSW	12	101,737,528 (GRCm39)	missense	probably damaging	1.00
R2138:Fbln5	UTSW	12	101,728,179 (GRCm39)	missense	probably benign	0.32
R3694:Fbln5	UTSW	12	101,731,511 (GRCm39)	missense	probably benign	0.00
R3918:Fbln5	UTSW	12	101,717,050 (GRCm39)	missense	probably damaging	1.00
R4166:Fbln5	UTSW	12	101,723,618 (GRCm39)	missense	probably damaging	1.00
R4626:Fbln5	UTSW	12	101,727,086 (GRCm39)	missense	probably damaging	1.00
R5004:Fbln5	UTSW	12	101,727,080 (GRCm39)	missense	probably damaging	0.99
R5264:Fbln5	UTSW	12	101,723,703 (GRCm39)	missense	possibly damaging	0.94
R5364:Fbln5	UTSW	12	101,737,623 (GRCm39)	missense	probably damaging	0.98
R5767:Fbln5	UTSW	12	101,731,468 (GRCm39)	missense	probably damaging	0.97
R5889:Fbln5	UTSW	12	101,731,485 (GRCm39)	missense	probably damaging	1.00
R6427:Fbln5	UTSW	12	101,728,081 (GRCm39)	missense	possibly damaging	0.84
R7079:Fbln5	UTSW	12	101,723,667 (GRCm39)	missense	probably damaging	1.00
R7343:Fbln5	UTSW	12	101,727,075 (GRCm39)	missense	probably damaging	1.00
R7803:Fbln5	UTSW	12	101,728,077 (GRCm39)	missense	probably damaging	1.00
R7927:Fbln5	UTSW	12	101,784,647 (GRCm39)	start gained	probably benign
R8190:Fbln5	UTSW	12	101,723,555 (GRCm39)	missense	probably damaging	0.99
R8381:Fbln5	UTSW	12	101,728,114 (GRCm39)	missense	probably benign
R8747:Fbln5	UTSW	12	101,734,754 (GRCm39)	missense	probably damaging	1.00
R8857:Fbln5	UTSW	12	101,726,990 (GRCm39)	missense	probably damaging	1.00
R9035:Fbln5	UTSW	12	101,717,041 (GRCm39)	missense	probably damaging	1.00
R9288:Fbln5	UTSW	12	101,734,728 (GRCm39)	nonsense	probably null
R9296:Fbln5	UTSW	12	101,780,853 (GRCm39)	missense	probably benign	0.01
R9341:Fbln5	UTSW	12	101,737,551 (GRCm39)	missense	probably damaging	1.00
R9343:Fbln5	UTSW	12	101,737,551 (GRCm39)	missense	probably damaging	1.00
R9481:Fbln5	UTSW	12	101,734,728 (GRCm39)	nonsense	probably null
R9562:Fbln5	UTSW	12	101,734,722 (GRCm39)	missense	probably damaging	1.00
R9565:Fbln5	UTSW	12	101,734,722 (GRCm39)	missense	probably damaging	1.00
R9619:Fbln5	UTSW	12	101,723,552 (GRCm39)	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