Incidental Mutation 'R2107:Fbln5'
ID 232192
Institutional Source Beutler Lab
Gene Symbol Fbln5
Ensembl Gene ENSMUSG00000021186
Gene Name fibulin 5
Synonyms EVEC
MMRRC Submission 040111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2107 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 101712824-101785314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101737528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 173 (W173R)
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: W160R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: W160R

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: W173R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1140 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,685,744 (GRCm39) L364Q probably damaging Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Acp2 G A 2: 91,033,940 (GRCm39) probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Cblb T A 16: 51,973,079 (GRCm39) probably null Het
Ccdc88c G T 12: 100,887,808 (GRCm39) D1557E probably benign Het
Cdc20 T C 4: 118,290,710 (GRCm39) Y430C probably damaging Het
Cdk5rap1 C T 2: 154,195,166 (GRCm39) D350N probably benign Het
Cgrrf1 T A 14: 47,090,833 (GRCm39) probably benign Het
Chia1 T A 3: 106,036,156 (GRCm39) Y185* probably null Het
Cmtm8 A T 9: 114,625,176 (GRCm39) V85D possibly damaging Het
Cplx4 A G 18: 66,089,964 (GRCm39) S152P probably benign Het
Crmp1 G T 5: 37,399,838 (GRCm39) R117L probably benign Het
Csad G C 15: 102,087,469 (GRCm39) L365V probably null Het
Dyrk1a C T 16: 94,487,386 (GRCm39) T532M probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fan1 T G 7: 64,016,536 (GRCm39) R529S probably damaging Het
Gm9611 A T 14: 42,116,611 (GRCm39) N42K possibly damaging Het
Gnal T A 18: 67,346,649 (GRCm39) L257Q probably damaging Het
Hint3 A T 10: 30,494,252 (GRCm39) F33I probably damaging Het
Ipcef1 A G 10: 6,840,501 (GRCm39) S403P probably benign Het
Kmt2c T C 5: 25,514,822 (GRCm39) N3007S probably benign Het
Kpna3 T C 14: 61,607,933 (GRCm39) D424G possibly damaging Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lamc2 A G 1: 153,030,132 (GRCm39) probably benign Het
Lmtk3 G T 7: 45,443,393 (GRCm39) C692F possibly damaging Het
Lrguk T C 6: 34,039,296 (GRCm39) M269T probably benign Het
Lrrc19 T A 4: 94,527,531 (GRCm39) T227S probably benign Het
Lrrk1 C A 7: 65,929,030 (GRCm39) D1201Y probably damaging Het
Matn2 T A 15: 34,423,905 (GRCm39) Y588N probably damaging Het
Mmp1b A G 9: 7,369,310 (GRCm39) W346R probably damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nedd9 A T 13: 41,492,455 (GRCm39) C12* probably null Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nisch C T 14: 30,894,097 (GRCm39) V172I probably damaging Het
Npy2r A T 3: 82,448,436 (GRCm39) probably null Het
Ogg1 C A 6: 113,306,254 (GRCm39) N150K probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or1p1 T C 11: 74,180,216 (GRCm39) V248A probably damaging Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Pck1 G C 2: 172,995,861 (GRCm39) E120Q probably benign Het
Pde11a A G 2: 76,168,266 (GRCm39) V229A probably damaging Het
Pias2 T C 18: 77,185,167 (GRCm39) F83L probably benign Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Plin3 A T 17: 56,591,391 (GRCm39) S130T probably benign Het
Rcc2 A G 4: 140,448,496 (GRCm39) Y515C probably damaging Het
Rgs12 A G 5: 35,124,079 (GRCm39) K621E possibly damaging Het
Rnf6 G A 5: 146,148,091 (GRCm39) T309I probably damaging Het
Rpusd3 G T 6: 113,392,523 (GRCm39) T335N probably damaging Het
Scn8a A T 15: 100,916,244 (GRCm39) I1218F probably damaging Het
Slc23a1 T A 18: 35,758,879 (GRCm39) Q104L possibly damaging Het
Slc34a3 A T 2: 25,120,999 (GRCm39) V363D probably damaging Het
Smap1 A T 1: 23,887,535 (GRCm39) M248K possibly damaging Het
Sp1 A G 15: 102,318,113 (GRCm39) probably null Het
Tasor T A 14: 27,183,744 (GRCm39) probably null Het
Tbc1d1 T G 5: 64,442,048 (GRCm39) N689K probably benign Het
Tff2 T C 17: 31,361,256 (GRCm39) E99G possibly damaging Het
Tjp3 T C 10: 81,116,378 (GRCm39) N239D possibly damaging Het
Trim37 G A 11: 87,050,651 (GRCm39) R230Q probably benign Het
Ubr5 A G 15: 37,989,546 (GRCm39) M2090T probably benign Het
Unc13a T C 8: 72,108,895 (GRCm39) probably null Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vav2 T C 2: 27,157,315 (GRCm39) E829G probably damaging Het
Vps35l T C 7: 118,393,762 (GRCm39) probably benign Het
Zfp26 A T 9: 20,353,533 (GRCm39) D85E probably benign Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging 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
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
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'- ATGGATGGTCACACGTGTAAGG -3'
(R):5'- CTTGGTGTGACCCAGTGATTTTATC -3'

Sequencing Primer
(F):5'- ATGGTCACACGTGTAAGGTCATCTC -3'
(R):5'- GTGACCCAGTGATTTTATCAGCAGC -3'
Posted On 2014-09-18