Incidental Mutation 'R8857:Fbln5'
ID 675427
Institutional Source Beutler Lab
Gene Symbol Fbln5
Ensembl Gene ENSMUSG00000021186
Gene Name fibulin 5
Synonyms EVEC
MMRRC Submission 068677-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R8857 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 101712824-101785314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101726990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 320 (C320F)
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: C320F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: C320F

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 damaging
Transcript: ENSMUST00000222587
AA Change: C333F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9583 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (65/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,119,287 (GRCm39) L266F possibly damaging Het
Adgrf3 A T 5: 30,402,065 (GRCm39) C654* probably null Het
Adgrl1 C A 8: 84,657,657 (GRCm39) A421D probably benign Het
Adra1b C G 11: 43,727,092 (GRCm39) probably benign Het
Apba2 T A 7: 64,399,939 (GRCm39) V710E possibly damaging Het
Arhgef5 T C 6: 43,264,558 (GRCm39) V1523A probably damaging Het
AW551984 G C 9: 39,511,831 (GRCm39) A60G probably damaging Het
Bdh1 A T 16: 31,265,450 (GRCm39) T42S probably benign Het
C130073F10Rik G A 4: 101,747,555 (GRCm39) P158L possibly damaging Het
Cacna2d4 A T 6: 119,248,909 (GRCm39) K457* probably null Het
Chd3 G A 11: 69,253,146 (GRCm39) P223L probably benign Het
Cnst T C 1: 179,437,878 (GRCm39) S481P probably damaging Het
Col6a3 T A 1: 90,703,485 (GRCm39) K3027N unknown Het
Csf2rb2 T C 15: 78,178,613 (GRCm39) D111G probably null Het
Disc1 A C 8: 125,891,870 (GRCm39) E641A probably damaging Het
Fbn2 G A 18: 58,286,933 (GRCm39) T242I probably damaging Het
Frem1 T A 4: 82,922,280 (GRCm39) probably benign Het
Gpsm1 G C 2: 26,230,457 (GRCm39) G469A possibly damaging Het
Hic1 A G 11: 75,056,228 (GRCm39) I887T probably benign Het
Hltf T C 3: 20,159,825 (GRCm39) V692A probably damaging Het
Hsd17b13 A G 5: 104,125,063 (GRCm39) L40P probably damaging Het
Hydin T C 8: 111,298,587 (GRCm39) probably null Het
Irf2bpl T C 12: 86,929,359 (GRCm39) Y438C possibly damaging Het
Itgb4 A T 11: 115,871,853 (GRCm39) N219I probably benign Het
Knop1 T C 7: 118,451,949 (GRCm39) K257E Het
Krtap19-5 A T 16: 88,693,139 (GRCm39) F58I unknown Het
L3mbtl2 T A 15: 81,571,320 (GRCm39) F709L unknown Het
Map1a G A 2: 121,138,098 (GRCm39) R2924H probably damaging Het
Mfsd13a A G 19: 46,356,567 (GRCm39) D224G probably benign Het
Mme A T 3: 63,256,070 (GRCm39) N510I probably damaging Het
Morc2a T A 11: 3,627,484 (GRCm39) probably null Het
Mptx2 T C 1: 173,102,452 (GRCm39) E79G probably benign Het
Nutm1 A G 2: 112,081,523 (GRCm39) M380T probably benign Het
Or5ac25 A T 16: 59,182,041 (GRCm39) I180N probably damaging Het
P2rx1 A G 11: 72,903,197 (GRCm39) probably benign Het
Padi4 A G 4: 140,501,472 (GRCm39) I7T probably damaging Het
Phf20l1 T C 15: 66,513,781 (GRCm39) S1013P probably benign Het
Plb1 T C 5: 32,521,556 (GRCm39) V1469A unknown Het
Polr1g C T 7: 19,093,355 (GRCm39) probably benign Het
Prkab1 T C 5: 116,158,147 (GRCm39) N150D probably damaging Het
Qsox1 A G 1: 155,658,333 (GRCm39) V412A possibly damaging Het
Rai1 A G 11: 60,077,393 (GRCm39) S486G probably benign Het
Rev3l T A 10: 39,670,965 (GRCm39) Y170* probably null Het
Rims2 T A 15: 39,543,044 (GRCm39) M1426K possibly damaging Het
Selenoi C A 5: 30,461,160 (GRCm39) S132* probably null Het
Shtn1 T C 19: 58,978,800 (GRCm39) I498M probably damaging Het
Sin3b T C 8: 73,483,523 (GRCm39) M970T probably benign Het
Slc17a8 A G 10: 89,427,022 (GRCm39) F360L probably damaging Het
Slc7a11 A G 3: 50,393,305 (GRCm39) Y113H probably damaging Het
Spast T A 17: 74,675,938 (GRCm39) M327K possibly damaging Het
Sphkap T A 1: 83,258,288 (GRCm39) I152F probably damaging Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tiam1 A T 16: 89,662,145 (GRCm39) S658T probably damaging Het
Tmem174 G T 13: 98,773,433 (GRCm39) H132Q probably damaging Het
Tnfrsf10b G A 14: 70,012,543 (GRCm39) V117I probably benign Het
Tnr A G 1: 159,713,728 (GRCm39) T719A probably benign Het
Tomm34 G A 2: 163,896,379 (GRCm39) P292S probably damaging Het
Trav15-1-dv6-1 T A 14: 53,797,615 (GRCm39) F88Y probably damaging Het
Trp63 A T 16: 25,639,226 (GRCm39) H138L probably damaging Het
U2af2 T A 7: 5,065,290 (GRCm39) S2T probably damaging Het
Uroc1 T C 6: 90,334,510 (GRCm39) V574A possibly damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp488 A C 14: 33,692,760 (GRCm39) S134R probably benign Het
Zfp950 T C 19: 61,116,001 (GRCm39) D2G probably benign Het
Zfyve1 T A 12: 83,598,374 (GRCm39) H618L probably damaging Het
Zp1 T G 19: 10,893,888 (GRCm39) D439A probably 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
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
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'- CACGTATGCTTTCCATGCAGG -3'
(R):5'- ACAAGATGCAAGTGGCTCTC -3'

Sequencing Primer
(F):5'- CACATCCCAGTAAAATCAAATGGTTG -3'
(R):5'- GTGGCTCTCACTCTTATCCTC -3'
Posted On 2021-07-15