Incidental Mutation 'R5364:Fbln5'
ID 423039
Institutional Source Beutler Lab
Gene Symbol Fbln5
Ensembl Gene ENSMUSG00000021186
Gene Name fibulin 5
Synonyms EVEC
MMRRC Submission 042942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R5364 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 101712824-101785314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101737623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 141 (V141E)
Ref Sequence ENSEMBL: ENSMUSP00000152680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]
AlphaFold Q9WVH9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021603
AA Change: V128E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: V128E

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: V141E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.5987 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency 100% (102/102)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
Abcc10 G A 17: 46,616,577 (GRCm39) R1205C probably benign Het
Acer1 A G 17: 57,289,000 (GRCm39) F37L probably damaging Het
Acp7 C A 7: 28,310,448 (GRCm39) G463V probably benign Het
Actr2 A T 11: 20,050,797 (GRCm39) probably benign Het
Adam15 A T 3: 89,252,902 (GRCm39) I272K probably damaging Het
Adam1b T A 5: 121,638,946 (GRCm39) I700F possibly damaging Het
Adam33 A G 2: 130,896,392 (GRCm39) probably null Het
Ano1 T C 7: 144,190,941 (GRCm39) Y380C probably damaging Het
Arfgap3 A C 15: 83,198,562 (GRCm39) M307R probably damaging Het
Arhgap21 T A 2: 20,854,533 (GRCm39) R1610W probably damaging Het
Bbs2 A G 8: 94,801,023 (GRCm39) Y603H probably benign Het
Bbs9 G T 9: 22,486,492 (GRCm39) probably null Het
Bcar3 A C 3: 122,323,281 (GRCm39) M779L probably benign Het
Bub3 A T 7: 131,162,467 (GRCm39) N10I possibly damaging Het
Cacna1c T G 6: 118,633,504 (GRCm39) E1098D probably benign Het
Cacna1g T A 11: 94,307,684 (GRCm39) M1738L probably benign Het
Camk2d G T 3: 126,574,069 (GRCm39) G159C probably damaging Het
Ccdc51 A T 9: 108,921,188 (GRCm39) E358D possibly damaging Het
Cdc42bpa A G 1: 179,894,747 (GRCm39) D309G probably benign Het
Cdhr3 A T 12: 33,101,007 (GRCm39) F468I possibly damaging Het
Chrd A G 16: 20,551,898 (GRCm39) M1V probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dcdc2b T C 4: 129,502,963 (GRCm39) Y253C probably damaging Het
Dclk1 A C 3: 55,163,366 (GRCm39) N153H possibly damaging Het
Dgkg G T 16: 22,419,211 (GRCm39) S96R probably benign Het
Dnah9 A G 11: 65,772,522 (GRCm39) Y3737H possibly damaging Het
Elovl4 A T 9: 83,672,076 (GRCm39) I81N probably benign Het
Epha7 T A 4: 28,950,557 (GRCm39) Y791N probably damaging Het
Fam193a C A 5: 34,623,597 (GRCm39) T1395N probably benign Het
Flii T C 11: 60,610,954 (GRCm39) T492A probably benign Het
Fnip2 A G 3: 79,388,475 (GRCm39) I752T probably benign Het
Fpr3 T C 17: 18,190,806 (GRCm39) W26R probably benign Het
Gabrb1 A T 5: 72,294,105 (GRCm39) T460S probably benign Het
Gde1 T C 7: 118,297,874 (GRCm39) N4S probably benign Het
Ghitm G T 14: 36,847,156 (GRCm39) T306K probably benign Het
Ghitm A T 14: 36,847,174 (GRCm39) I300N probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Iqcd T C 5: 120,738,332 (GRCm39) I50T probably damaging Het
Itpripl1 G A 2: 126,983,739 (GRCm39) P128S possibly damaging Het
Jag2 C A 12: 112,874,154 (GRCm39) L1000F probably damaging Het
Klhdc4 A T 8: 122,533,375 (GRCm39) probably benign Het
Klra5 A G 6: 129,876,316 (GRCm39) F164L probably benign Het
Larp1b A G 3: 40,931,658 (GRCm39) Y288C probably damaging Het
Lrfn3 T A 7: 30,055,078 (GRCm39) E622D possibly damaging Het
Lyst A G 13: 13,831,439 (GRCm39) D1621G probably benign Het
Mastl T C 2: 23,023,665 (GRCm39) T353A probably benign Het
Mkln1 T C 6: 31,473,647 (GRCm39) Y130H probably damaging Het
Mms22l T A 4: 24,496,882 (GRCm39) probably benign Het
Mroh7 T A 4: 106,548,840 (GRCm39) M1008L probably benign Het
Nipal1 T C 5: 72,825,243 (GRCm39) V312A probably damaging Het
Nlrp5 T A 7: 23,117,753 (GRCm39) Y492* probably null Het
Odad1 T A 7: 45,585,756 (GRCm39) I105N probably damaging Het
Or1n1 T C 2: 36,750,006 (GRCm39) Y118C probably damaging Het
Otulinl G A 15: 27,660,031 (GRCm39) Q24* probably null Het
Pcdhb11 T A 18: 37,555,232 (GRCm39) D187E probably benign Het
Pcdhb13 A G 18: 37,576,561 (GRCm39) Y313C probably damaging Het
Pdpn G A 4: 143,000,526 (GRCm39) T102I possibly damaging Het
Pear1 A T 3: 87,665,668 (GRCm39) C120S probably damaging Het
Peg10 T C 6: 4,756,128 (GRCm39) probably benign Het
Ppm1e A G 11: 87,128,007 (GRCm39) W384R probably benign Het
Ppp1r10 C T 17: 36,241,324 (GRCm39) P700S unknown Het
Prl2c5 G A 13: 13,357,627 (GRCm39) R13K probably benign Het
Prmt3 C A 7: 49,498,554 (GRCm39) P487T probably damaging Het
Proser3 C A 7: 30,245,573 (GRCm39) A144S possibly damaging Het
Ptcd1 G A 5: 145,088,241 (GRCm39) T590I probably damaging Het
Rbsn A G 6: 92,170,958 (GRCm39) V321A probably damaging Het
Slc40a1 C A 1: 45,964,383 (GRCm39) C14F probably damaging Het
Slc6a15 T C 10: 103,229,369 (GRCm39) I136T probably damaging Het
Slc7a4 A G 16: 17,391,227 (GRCm39) I449T probably benign Het
Snrnp48 T A 13: 38,394,165 (GRCm39) probably null Het
Tada2a A G 11: 84,011,973 (GRCm39) Y23H probably benign Het
Tbx15 A T 3: 99,259,508 (GRCm39) S460C possibly damaging Het
Tbx21 C T 11: 96,992,304 (GRCm39) probably null Het
Tmcc2 T G 1: 132,285,534 (GRCm39) T376P probably damaging Het
Tmco4 G A 4: 138,779,815 (GRCm39) C420Y probably damaging Het
Tmem235 C A 11: 117,755,020 (GRCm39) Y157* probably null Het
Tmem63b T C 17: 45,975,653 (GRCm39) probably benign Het
Tnfrsf1a T C 6: 125,334,356 (GRCm39) S92P possibly damaging Het
Top3b A T 16: 16,704,834 (GRCm39) T397S probably benign Het
Trabd C A 15: 88,967,007 (GRCm39) probably benign Het
Trbv21 A T 6: 41,179,764 (GRCm39) I27L possibly damaging Het
Trim3 C T 7: 105,268,276 (GRCm39) V169M probably damaging Het
Ttn T C 2: 76,807,458 (GRCm39) T92A probably damaging Het
Ttn C T 2: 76,738,860 (GRCm39) S3893N probably benign Het
Uchl4 A T 9: 64,142,821 (GRCm39) I101F possibly damaging Het
Vmn1r5 T A 6: 56,962,583 (GRCm39) M86K probably damaging Het
Vmn2r55 T A 7: 12,404,830 (GRCm39) Q191L possibly damaging Het
Zfp458 A T 13: 67,406,012 (GRCm39) C139* probably null Het
Zfp788 T C 7: 41,299,551 (GRCm39) L729P probably damaging Het
Zmym2 T A 14: 57,158,102 (GRCm39) M547K 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
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
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'- AACGTACCTGGACCTCCTTAC -3'
(R):5'- ACTCTAGAGGCCAGTGTGTCTC -3'

Sequencing Primer
(F):5'- TGTACTGTATCCATGACAACCATC -3'
(R):5'- GTCTCAGAAGTGCCTATCAGG -3'
Posted On 2016-08-04