Mutagenetix > Incidental Mutation

Incidental Mutation 'R9481:Fbln5'

716263

Institutional Source

Beutler Lab

Gene Symbol

Fbln5

Ensembl Gene

ENSMUSG00000021186

Gene Name

fibulin 5

Synonyms

EVEC

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R9481 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101712824-101785314 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 101734728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 181 (C181*)

Ref Sequence

ENSEMBL: ENSMUSP00000021603 (fasta)

Gene Model

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

AlphaFold

Q9WVH9

Predicted Effect

probably null
Transcript: ENSMUST00000021603
AA Change: C181*

SMART Domains

Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: C181*

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

probably null
Transcript: ENSMUST00000222587
AA Change: C194*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Acsf2	C	T	11: 94,464,044 (GRCm39)	V47M	probably benign	Het
Ahcyl1	A	T	3: 107,579,388 (GRCm39)	C215*	probably null	Het
Ambn	G	T	5: 88,613,050 (GRCm39)		probably null	Het
Apol9b	G	T	15: 77,619,656 (GRCm39)	V151L	probably benign	Het
Arid1b	A	G	17: 5,369,007 (GRCm39)	Y1070C	probably damaging	Het
Arnt	T	C	3: 95,391,092 (GRCm39)	L322P	possibly damaging	Het
Bdnf	A	G	2: 109,553,935 (GRCm39)	D103G	possibly damaging	Het
Ccdc9	A	T	7: 16,016,761 (GRCm39)	D42E	probably damaging	Het
Cdh13	A	G	8: 119,963,676 (GRCm39)	T419A		Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clasp2	A	T	9: 113,670,669 (GRCm39)	R329W	probably damaging	Het
Csmd3	A	G	15: 47,470,459 (GRCm39)	C2495R		Het
Cyba	A	T	8: 123,154,394 (GRCm39)	I43N	possibly damaging	Het
Cyp2a5	A	C	7: 26,540,511 (GRCm39)	T375P	possibly damaging	Het
Cyp2r1	A	G	7: 114,152,369 (GRCm39)	F196S	probably damaging	Het
Efcab2	T	C	1: 178,308,887 (GRCm39)	F130S	probably damaging	Het
Eml6	T	G	11: 29,788,641 (GRCm39)		probably null	Het
Glyatl3	A	G	17: 41,221,016 (GRCm39)	V117A	probably benign	Het
Gpc6	A	G	14: 117,163,432 (GRCm39)	S29G	probably benign	Het
Hadhb	T	G	5: 30,368,711 (GRCm39)	S13A	probably benign	Het
Hook1	C	T	4: 95,901,505 (GRCm39)	R488C	probably damaging	Het
Icam5	A	G	9: 20,948,877 (GRCm39)	Y743C	probably damaging	Het
Il15ra	T	C	2: 11,724,854 (GRCm39)	V108A	probably benign	Het
Itga1	T	C	13: 115,152,753 (GRCm39)	N223S	probably benign	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kcnk1	T	C	8: 126,756,281 (GRCm39)	C268R	probably damaging	Het
Kctd19	A	T	8: 106,120,249 (GRCm39)	L264M	probably benign	Het
Kmt2c	A	T	5: 25,497,907 (GRCm39)	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,554,860 (GRCm39)	I1258K	probably benign	Het
Lyst	G	A	13: 13,857,653 (GRCm39)	E2481K	possibly damaging	Het
Megf10	T	A	18: 57,395,090 (GRCm39)	I484N	probably benign	Het
Mettl21e	T	C	1: 44,245,857 (GRCm39)	I130V	probably benign	Het
Nmnat2	C	A	1: 152,962,181 (GRCm39)	N140K	possibly damaging	Het
Nsmaf	T	C	4: 6,414,976 (GRCm39)	K630R	probably benign	Het
Or2t1	C	T	14: 14,328,756 (GRCm38)	S215L	probably benign	Het
Or5w15	A	T	2: 87,568,576 (GRCm39)	F31I	probably benign	Het
Or8b38	G	T	9: 37,972,707 (GRCm39)	L30F	probably benign	Het
Or8g26	T	C	9: 39,096,172 (GRCm39)	S230P	possibly damaging	Het
Pafah1b2	G	A	9: 45,884,284 (GRCm39)	Q123*	probably null	Het
Ptprb	T	A	10: 116,155,353 (GRCm39)	N415K	probably benign	Het
Rev3l	T	A	10: 39,701,033 (GRCm39)	D1843E	probably benign	Het
Rps6ka4	T	A	19: 6,809,372 (GRCm39)	R427S	possibly damaging	Het
Scgb2b24	A	T	7: 33,436,795 (GRCm39)	L106I	probably benign	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Spata17	A	G	1: 186,844,756 (GRCm39)	V281A	possibly damaging	Het
Spef1	A	T	2: 131,014,625 (GRCm39)	V99E	probably damaging	Het
Srpra	C	T	9: 35,126,015 (GRCm39)	T431I	probably damaging	Het
Stk32c	G	A	7: 138,768,173 (GRCm39)	P36L	unknown	Het
Taar7d	T	C	10: 23,903,739 (GRCm39)	I207T	probably benign	Het
Tle1	G	A	4: 72,044,504 (GRCm39)	T501I	probably damaging	Het
Tmem88b	A	T	4: 155,868,733 (GRCm39)	W172R	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vcl	G	T	14: 21,070,726 (GRCm39)	V771L	probably benign	Het
Vmn1r200	T	A	13: 22,579,911 (GRCm39)	M238K	probably damaging	Het
Vmn2r96	A	G	17: 18,793,621 (GRCm39)		probably benign	Het
Vsig10l	G	T	7: 43,112,795 (GRCm39)	E18*	probably null	Het
Wdfy3	A	G	5: 102,000,478 (GRCm39)	L2964P	probably benign	Het
Zfp334	G	A	2: 165,222,271 (GRCm39)	R591W	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
R5914:Fbln5	UTSW	12	101,727,002 (GRCm39)	missense	possibly damaging	0.78
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
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'- GCTGAGCAATAGGTACTCCTG -3'
(R):5'- TACAAGGAAGCTGAGCACTGTG -3'

Sequencing Primer
(F):5'- CTGAGCAATAGGTACTCCTGATACAG -3'
(R):5'- GGTCCAGTGGGTTCATCATTCC -3'

Posted On

2022-07-18