Incidental Mutation 'BB014:Fbln5'
ID 642831
Institutional Source Beutler Lab
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 # BB014
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 101712824-101785314 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to C at 101784647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]
AlphaFold Q9WVH9
Predicted Effect probably benign
Transcript: ENSMUST00000021603
SMART Domains Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186

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 probably benign
Transcript: ENSMUST00000222587
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,123,539 (GRCm39) M111T probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agrn C T 4: 156,257,266 (GRCm39) G1188D probably damaging Het
Amz2 A G 11: 109,319,884 (GRCm39) K90R probably damaging Het
Arhgef4 G T 1: 34,846,334 (GRCm39) Q227H probably damaging Het
B4galt3 T A 1: 171,099,342 (GRCm39) C10* probably null Het
Banf2 T A 2: 143,915,718 (GRCm39) M53K probably benign Het
BC034090 A T 1: 155,117,371 (GRCm39) L249* probably null Het
Cftr A G 6: 18,267,970 (GRCm39) D673G possibly damaging Het
Cntnap2 G T 6: 47,072,621 (GRCm39) C1063F possibly damaging Het
Cstpp1 T A 2: 91,252,250 (GRCm39) D37V probably damaging Het
Dnah3 A G 7: 119,550,494 (GRCm39) I296T probably damaging Het
Dpy19l2 A G 9: 24,607,197 (GRCm39) V88A probably benign Het
Fbn1 T C 2: 125,225,656 (GRCm39) D532G possibly damaging Het
Fnta G A 8: 26,494,454 (GRCm39) R258* probably null Het
Gch1 G A 14: 47,393,380 (GRCm39) H201Y probably damaging Het
Grik2 A T 10: 49,116,890 (GRCm39) S624T probably damaging Het
Grm5 T A 7: 87,685,382 (GRCm39) S500T probably benign Het
Hmcn1 T A 1: 150,485,526 (GRCm39) I4359F probably damaging Het
Hrc T A 7: 44,985,477 (GRCm39) H209Q possibly damaging Het
Hsd17b14 T C 7: 45,215,395 (GRCm39) M164T probably damaging Het
Hydin T C 8: 111,307,476 (GRCm39) F3952L possibly damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging Het
Muc4 A G 16: 32,592,011 (GRCm39) T958A Het
Myo19 A G 11: 84,791,046 (GRCm39) E419G probably damaging Het
Ndufa5 A G 6: 24,527,291 (GRCm39) V16A possibly damaging Het
Or10a2 T C 7: 106,673,496 (GRCm39) F154L probably benign Het
Phf24 A C 4: 42,934,774 (GRCm39) T137P probably damaging Het
Pkp4 A T 2: 59,142,098 (GRCm39) N467I probably damaging Het
Pramel25 T A 4: 143,519,536 (GRCm39) I99N probably benign Het
Rbm12b2 C T 4: 12,095,417 (GRCm39) R759C possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf34 T A 5: 122,988,288 (GRCm39) probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,229,131 (GRCm39) probably benign Het
Scaf8 T A 17: 3,209,495 (GRCm39) S73T unknown Het
Scn4a T A 11: 106,233,209 (GRCm39) E454D probably damaging Het
Serpina1e A G 12: 103,917,450 (GRCm39) V73A probably benign Het
Sh3rf2 A G 18: 42,244,487 (GRCm39) T350A probably benign Het
Slc35a1 A G 4: 34,669,021 (GRCm39) V264A probably damaging Het
Slf2 A G 19: 44,923,740 (GRCm39) K185E probably damaging Het
Spmip8 T A 8: 96,039,786 (GRCm39) S68T probably benign Het
Spsb2 T C 6: 124,786,336 (GRCm39) F23S probably benign Het
Ssx2ip T G 3: 146,138,365 (GRCm39) L404R probably damaging Het
Strn4 T A 7: 16,560,556 (GRCm39) L236Q probably null Het
Tcp10b A G 17: 13,288,579 (GRCm39) T202A probably benign Het
Tdp1 G T 12: 99,878,555 (GRCm39) V448L probably damaging Het
Tecrl T C 5: 83,502,666 (GRCm39) E61G probably damaging Het
Trim50 T C 5: 135,382,465 (GRCm39) F106L probably benign Het
Usp5 G T 6: 124,801,192 (GRCm39) F224L probably benign Het
Vmn2r45 C A 7: 8,486,513 (GRCm39) M258I probably benign Het
Zfp574 T A 7: 24,779,572 (GRCm39) V198E probably benign Het
Zmym4 A G 4: 126,799,170 (GRCm39) I722T probably benign Het
Other mutations in Fbln5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCCTCAAGGCTCAAGGATTACTTG -3'
(R):5'- GCGCCCATCTCAAAGTCTTC -3'

Sequencing Primer
(F):5'- GACTGGAATTGCAATTTCCGC -3'
(R):5'- CCATCTCAAAGTCTTCGTTTGGGAG -3'
Posted On 2020-08-01