Incidental Mutation 'IGL00863:Fbln5'
ID 10704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbln5
Ensembl Gene ENSMUSG00000021186
Gene Name fibulin 5
Synonyms EVEC
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL00863
Quality Score
Status
Chromosome 12
Chromosomal Location 101712824-101785314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101776175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
Ref Sequence ENSEMBL: ENSMUSP00000021603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]
AlphaFold Q9WVH9
Predicted Effect probably damaging
Transcript: ENSMUST00000021603
AA Change: V60A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: V60A

DomainStartEndE-ValueType
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: V73A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsn A G 9: 107,992,521 (GRCm39) I1077T probably damaging Het
Car8 A G 4: 8,183,251 (GRCm39) probably null Het
Ccdc192 A T 18: 57,727,158 (GRCm39) E136V probably damaging Het
Ccny A T 18: 9,345,444 (GRCm39) D143E probably benign Het
Cdh19 A G 1: 110,876,874 (GRCm39) V155A probably damaging Het
Cript T A 17: 87,335,151 (GRCm39) I14N probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Cyria A T 12: 12,409,235 (GRCm39) I72F probably benign Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fbn1 T A 2: 125,245,139 (GRCm39) E249D possibly damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Grik2 A G 10: 49,232,024 (GRCm39) V502A possibly damaging Het
Heatr1 T C 13: 12,450,009 (GRCm39) V2001A probably benign Het
Il4i1 T A 7: 44,487,470 (GRCm39) Y148* probably null Het
Jmjd4 T C 11: 59,341,569 (GRCm39) S113P probably benign Het
Nceh1 C T 3: 27,295,462 (GRCm39) P241L probably damaging Het
Pals1 A G 12: 78,856,595 (GRCm39) D146G probably damaging Het
Pcdh10 T A 3: 45,334,737 (GRCm39) D350E probably damaging Het
Pdgfrl A G 8: 41,438,571 (GRCm39) E169G probably damaging Het
Ppm1l T A 3: 69,225,283 (GRCm39) D128E probably damaging Het
Rasa1 A G 13: 85,436,548 (GRCm39) V160A probably benign Het
Serf2 T C 2: 121,288,184 (GRCm39) probably null Het
Slitrk1 T A 14: 109,149,269 (GRCm39) N481Y probably damaging Het
Tas2r139 T G 6: 42,118,055 (GRCm39) S62R probably damaging Het
Tdpoz4 A T 3: 93,704,380 (GRCm39) T226S probably benign Het
Tvp23b C A 11: 62,774,464 (GRCm39) A36E probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Other mutations in Fbln5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06