Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R5004 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101712824-101785314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101727080 bp (GRCm39)

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]

AlphaFold

Q9WVH9

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: 13,605,927 (GRCm39)	D189E	possibly damaging	Het
Abca5	C	T	11: 110,170,202 (GRCm39)	E1298K	probably damaging	Het
Actg1	C	A	11: 120,238,986 (GRCm39)		probably benign	Het
Add2	A	G	6: 86,073,728 (GRCm39)	T206A	probably benign	Het
Alox12e	A	G	11: 70,212,330 (GRCm39)	V116A	probably benign	Het
Ankrd27	T	A	7: 35,307,800 (GRCm39)	D346E	probably damaging	Het
Arfgap3	T	A	15: 83,194,497 (GRCm39)	S391C	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cars2	C	T	8: 11,568,956 (GRCm39)		probably null	Het
Cav3	A	G	6: 112,436,885 (GRCm39)	K38R	probably damaging	Het
Ccdc159	G	A	9: 21,844,241 (GRCm39)	R101H	probably damaging	Het
Cops7b	A	G	1: 86,515,132 (GRCm39)		probably benign	Het
Cyp4a12b	C	T	4: 115,295,310 (GRCm39)	T472I	probably benign	Het
Cyp4a32	T	C	4: 115,458,238 (GRCm39)	S23P	probably damaging	Het
Cyp4f13	T	G	17: 33,144,760 (GRCm39)	I275L	probably benign	Het
Dlgap1	T	A	17: 71,025,222 (GRCm39)		probably null	Het
Dnajc12	A	T	10: 63,222,486 (GRCm39)	I4L	probably benign	Het
Ephb2	T	A	4: 136,387,010 (GRCm39)	D739V	possibly damaging	Het
Fam169a	A	G	13: 97,234,100 (GRCm39)	Y124C	probably damaging	Het
Fdxr	T	C	11: 115,160,399 (GRCm39)	E352G	probably benign	Het
Fhad1	T	G	4: 141,729,910 (GRCm39)		probably null	Het
Fhod1	C	T	8: 106,063,577 (GRCm39)		probably benign	Het
Fndc7	G	A	3: 108,790,789 (GRCm39)	T79M	probably damaging	Het
Fry	A	G	5: 150,357,069 (GRCm39)	Q1872R	probably benign	Het
Gbx1	T	C	5: 24,709,837 (GRCm39)	H336R	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gpr15lg	A	T	14: 36,824,622 (GRCm39)	C60S	probably damaging	Het
Hacl1	C	A	14: 31,340,996 (GRCm39)	C346F	probably benign	Het
Hectd4	C	A	5: 121,466,262 (GRCm39)		probably null	Het
Hectd4	C	T	5: 121,467,628 (GRCm39)	P2526S	possibly damaging	Het
Il3ra	A	T	14: 14,355,381 (GRCm38)	E289D	probably benign	Het
Itih4	T	G	14: 30,614,629 (GRCm39)	L497R	probably damaging	Het
Kcnh3	A	T	15: 99,124,383 (GRCm39)	K91*	probably null	Het
Kiz	C	G	2: 146,811,899 (GRCm39)	D669E	possibly damaging	Het
Klhl30	T	A	1: 91,287,046 (GRCm39)		probably null	Het
Kndc1	C	A	7: 139,512,792 (GRCm39)	C1514*	probably null	Het
Lipo2	A	G	19: 33,699,076 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,279,268 (GRCm39)	D5921G	probably damaging	Het
Mau2	A	G	8: 70,478,537 (GRCm39)	Y394H	probably damaging	Het
Mctp1	T	A	13: 76,789,923 (GRCm39)	S50R	possibly damaging	Het
Mllt10	T	C	2: 18,175,079 (GRCm39)	Y3H	probably damaging	Het
Mon1b	T	C	8: 114,365,859 (GRCm39)	S396P	probably damaging	Het
Mrgpra4	A	C	7: 47,631,535 (GRCm39)	L22R	probably benign	Het
Msln	T	G	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Myh15	T	A	16: 48,952,411 (GRCm39)	I827N	probably damaging	Het
Myh7	T	C	14: 55,209,140 (GRCm39)	D1866G	probably damaging	Het
Myo5b	T	G	18: 74,877,844 (GRCm39)		probably null	Het
Nlrc5	T	G	8: 95,247,844 (GRCm39)		probably benign	Het
Nup210l	A	T	3: 90,087,472 (GRCm39)	R1082*	probably null	Het
Or12k7	A	G	2: 36,958,422 (GRCm39)	Y35C	probably damaging	Het
Or4f4b	G	A	2: 111,314,005 (GRCm39)	V105I	possibly damaging	Het
Or5p63	T	A	7: 107,811,323 (GRCm39)	K138*	probably null	Het
Or7e169	T	C	9: 19,757,398 (GRCm39)	I172M	probably benign	Het
Pi4ka	A	T	16: 17,195,033 (GRCm39)	C122S	probably damaging	Het
Pkd2l1	G	T	19: 44,138,016 (GRCm39)	A690E	probably benign	Het
Pramel22	T	C	4: 143,380,706 (GRCm39)	Q439R	probably benign	Het
Prickle2	A	T	6: 92,393,736 (GRCm39)	D312E	probably benign	Het
Prrc2a	T	A	17: 35,368,974 (GRCm39)	N2021Y	probably benign	Het
Prss3	T	C	6: 41,350,836 (GRCm39)	Y218C	probably damaging	Het
Psg20	T	C	7: 18,414,837 (GRCm39)	T350A	probably damaging	Het
Ptprg	A	T	14: 12,220,667 (GRCm38)	I1235F	probably damaging	Het
Ptprk	T	A	10: 28,462,059 (GRCm39)	D1181E	possibly damaging	Het
Rcc2	T	A	4: 140,444,977 (GRCm39)	S415T	possibly damaging	Het
Ripor1	CAA	CA	8: 106,345,452 (GRCm39)		probably null	Het
Rnf31	T	C	14: 55,829,639 (GRCm39)	L68P	probably damaging	Het
Rsph6a	A	T	7: 18,791,665 (GRCm39)	E278V	possibly damaging	Het
Rubcnl	C	T	14: 75,269,617 (GRCm39)	Q92*	probably null	Het
Scfd1	A	G	12: 51,491,777 (GRCm39)	R580G	probably benign	Het
Sec31a	A	T	5: 100,516,192 (GRCm39)	N967K	probably damaging	Het
Sema4b	C	A	7: 79,866,093 (GRCm39)	T154N	probably benign	Het
Septin14	T	A	5: 129,770,040 (GRCm39)	I219F	possibly damaging	Het
Serpinb9c	A	T	13: 33,334,338 (GRCm39)	S235T	probably benign	Het
Setd4	G	T	16: 93,388,133 (GRCm39)	H118N	probably benign	Het
Siglec1	C	T	2: 130,911,789 (GRCm39)	V1697M	probably benign	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Soat2	T	A	15: 102,069,546 (GRCm39)	H402Q	probably damaging	Het
Sp3	A	T	2: 72,768,633 (GRCm39)	V666D	probably benign	Het
Spef2	T	G	15: 9,578,413 (GRCm39)	S1704R	probably benign	Het
Spidr	A	T	16: 15,936,806 (GRCm39)	W100R	possibly damaging	Het
Steap1	G	T	5: 5,792,829 (GRCm39)	Y27*	probably null	Het
Svep1	G	T	4: 58,087,751 (GRCm39)	T1776K	probably benign	Het
Tdpoz1	T	A	3: 93,578,440 (GRCm39)	T115S	probably benign	Het
Tet2	A	T	3: 133,193,140 (GRCm39)	H431Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,611,872 (GRCm39)	V170G	probably benign	Het
Tom1	T	C	8: 75,778,630 (GRCm39)	L99P	probably damaging	Het
Trim11	C	A	11: 58,872,164 (GRCm39)		probably benign	Het
Trio	T	C	15: 27,755,264 (GRCm39)	K955R	probably damaging	Het
Tubd1	C	T	11: 86,452,146 (GRCm39)	T371I	probably damaging	Het
Usp17lb	C	T	7: 104,490,884 (GRCm39)	M13I	probably benign	Het
Usp29	A	G	7: 6,965,158 (GRCm39)	M334V	probably benign	Het
Usp34	A	G	11: 23,414,586 (GRCm39)	Y2843C	probably damaging	Het
Utp20	A	T	10: 88,584,135 (GRCm39)	I2674N	probably damaging	Het
Vmn2r14	T	G	5: 109,368,246 (GRCm39)	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,247,848 (GRCm39)	F772I	probably damaging	Het
Vmn2r51	T	A	7: 9,821,932 (GRCm39)	E584D	probably benign	Het
Zbtb22	G	T	17: 34,136,217 (GRCm39)	A121S	probably benign	Het
Zfp273	A	T	13: 67,973,673 (GRCm39)	H267L	probably damaging	Het
Zkscan2	C	T	7: 123,089,267 (GRCm39)	V335M	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
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'- TACTGACAGTCTCCTGAGCCAG -3'
(R):5'- GGTGACAGACATCAGAAACGTC -3'

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

Posted On

2016-06-06