Mutagenetix > Incidental Mutation

Incidental Mutation 'R1606:Fbln5'

176506

Institutional Source

Beutler Lab

Gene Symbol

Fbln5

Ensembl Gene

ENSMUSG00000021186

Gene Name

fibulin 5

Synonyms

EVEC

MMRRC Submission

039643-MU

Accession Numbers

Essential gene?

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

Stock #

R1606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101712824-101785314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101731457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 246 (D246N)

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: D233N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: D233N

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 benign
Transcript: ENSMUST00000222587
AA Change: D246N

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,825,091 (GRCm39)	D1459G	probably damaging	Het
Adhfe1	G	A	1: 9,623,698 (GRCm39)		probably null	Het
Adsl	C	T	15: 80,836,425 (GRCm39)	Q61*	probably null	Het
Arhgap26	T	A	18: 39,429,925 (GRCm39)	C214S	probably damaging	Het
Armc8	A	T	9: 99,419,782 (GRCm39)	N9K	probably damaging	Het
Asxl1	A	G	2: 153,242,375 (GRCm39)	D975G	probably damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Bltp1	G	A	3: 36,996,548 (GRCm39)	D1087N	probably damaging	Het
Cdcp2	T	C	4: 106,959,710 (GRCm39)	S42P	probably damaging	Het
Chek1	A	G	9: 36,630,820 (GRCm39)	L198P	probably damaging	Het
Dlc1	A	G	8: 37,317,406 (GRCm39)	V423A	probably benign	Het
Dpy19l2	A	G	9: 24,492,511 (GRCm39)	S696P	probably benign	Het
Echdc3	A	T	2: 6,200,438 (GRCm39)	C183S	possibly damaging	Het
Exph5	A	C	9: 53,285,595 (GRCm39)	D892A	probably benign	Het
Fam120b	T	A	17: 15,622,073 (GRCm39)	I17K	possibly damaging	Het
Fbxo15	A	C	18: 84,980,745 (GRCm39)	K195T	possibly damaging	Het
Fzd1	C	A	5: 4,807,514 (GRCm39)	E23*	probably null	Het
Gas2l1	C	A	11: 5,014,434 (GRCm39)	A9S	probably damaging	Het
Gcc2	C	T	10: 58,105,270 (GRCm39)	L69F	probably damaging	Het
Ggt6	C	T	11: 72,328,559 (GRCm39)	A353V	possibly damaging	Het
Gphn	T	A	12: 78,730,657 (GRCm39)	V764E	probably damaging	Het
Grid1	A	T	14: 35,167,922 (GRCm39)	Y482F	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,444 (GRCm39)	V338M	probably benign	Het
Klhl14	T	A	18: 21,698,589 (GRCm39)	Q408L	possibly damaging	Het
Lacc1	T	A	14: 77,267,081 (GRCm39)	Q394L	probably benign	Het
Lcor	T	G	19: 41,573,513 (GRCm39)	M756R	probably benign	Het
Lipe	A	G	7: 25,087,569 (GRCm39)	F477L	probably damaging	Het
Lrig2	A	G	3: 104,387,423 (GRCm39)		probably null	Het
Megf8	T	A	7: 25,058,120 (GRCm39)	H2131Q	probably damaging	Het
Nek1	A	G	8: 61,577,310 (GRCm39)	D1097G	possibly damaging	Het
Nhlrc3	A	T	3: 53,366,078 (GRCm39)	Y138*	probably null	Het
Nudcd2	T	A	11: 40,626,834 (GRCm39)		probably null	Het
Numb	T	C	12: 83,847,784 (GRCm39)		probably null	Het
Or7h8	T	G	9: 20,124,242 (GRCm39)	L199R	probably benign	Het
Pacrg	G	A	17: 11,058,725 (GRCm39)	Q11*	probably null	Het
Ppp1r37	A	T	7: 19,268,924 (GRCm39)	M192K	probably damaging	Het
Prmt8	T	A	6: 127,666,799 (GRCm39)	K392*	probably null	Het
Rab28	A	T	5: 41,855,795 (GRCm39)	W67R	probably damaging	Het
Rad21l	C	T	2: 151,496,606 (GRCm39)	C365Y	probably damaging	Het
Rbm17	A	T	2: 11,600,208 (GRCm39)	F147I	probably benign	Het
Rbm46	A	C	3: 82,771,848 (GRCm39)	F256V	probably damaging	Het
Rcc1	A	T	4: 132,062,087 (GRCm39)		probably null	Het
Rnf217	G	T	10: 31,410,807 (GRCm39)	T296N	possibly damaging	Het
Rnmt	A	G	18: 68,444,724 (GRCm39)	D231G	possibly damaging	Het
Rph3al	C	T	11: 75,797,367 (GRCm39)	V110I	probably damaging	Het
Rxfp2	T	C	5: 149,983,362 (GRCm39)	M289T	probably benign	Het
Sash1	T	C	10: 8,605,721 (GRCm39)	R890G	probably benign	Het
Sf3b2	A	T	19: 5,338,026 (GRCm39)	D245E	probably benign	Het
Skint9	A	T	4: 112,246,398 (GRCm39)	V238E	probably benign	Het
Slc26a8	T	A	17: 28,857,455 (GRCm39)	D896V	possibly damaging	Het
Slc35b4	T	A	6: 34,135,323 (GRCm39)	K330*	probably null	Het
Slco1a4	G	T	6: 141,785,337 (GRCm39)	H84Q	probably damaging	Het
Sptbn2	G	T	19: 4,800,270 (GRCm39)		probably null	Het
St6galnac3	A	T	3: 152,912,305 (GRCm39)	D227E	probably benign	Het
Tek	G	A	4: 94,738,004 (GRCm39)	D685N	probably damaging	Het
Trf	G	T	9: 103,102,335 (GRCm39)		probably null	Het
Trpm5	T	A	7: 142,638,908 (GRCm39)	K288*	probably null	Het
Ttn	C	T	2: 76,567,356 (GRCm39)	V27846I	probably damaging	Het
Tyr	A	T	7: 87,087,179 (GRCm39)	D444E	probably benign	Het
Ucp1	C	A	8: 84,021,933 (GRCm39)	A255E	probably damaging	Het
Ush2a	A	G	1: 188,491,963 (GRCm39)	D3084G	probably benign	Het
Yeats4	T	C	10: 117,053,344 (GRCm39)	Y139C	probably damaging	Het
Zbtb6	A	G	2: 37,319,130 (GRCm39)	V266A	probably benign	Het
Zfp784	A	T	7: 5,038,774 (GRCm39)	N261K	possibly 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
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
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'- GGGAAATGTCTCCAGCTAGACACAC -3'
(R):5'- GCATACAGAGGCTCTCGATCTTCAGG -3'

Sequencing Primer
(F):5'- ACAACCAGGAAACCAGAGG -3'
(R):5'- acagcaggaggaggcac -3'

Posted On

2014-04-24