Incidental Mutation 'R4006:Fbln2'
ID 311468
Institutional Source Beutler Lab
Gene Symbol Fbln2
Ensembl Gene ENSMUSG00000064080
Gene Name fibulin 2
Synonyms 5730577E14Rik
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 91189442-91249522 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 91246943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041544] [ENSMUST00000113498]
AlphaFold P37889
Predicted Effect probably null
Transcript: ENSMUST00000041544
SMART Domains Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:VWC 72 138 8e-35 BLAST
low complexity region 201 215 N/A INTRINSIC
low complexity region 217 233 N/A INTRINSIC
low complexity region 242 262 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ANATO 435 470 1.54e-11 SMART
ANATO 478 509 4.67e-2 SMART
ANATO 511 543 2.78e-9 SMART
low complexity region 546 569 N/A INTRINSIC
EGF_CA 594 635 3.1e-11 SMART
EGF 672 708 1.88e-1 SMART
EGF 712 755 1.33e1 SMART
EGF_CA 756 800 1.34e-6 SMART
EGF_CA 801 846 1.65e-6 SMART
EGF_CA 847 894 2.06e-7 SMART
EGF_CA 895 937 3.56e-11 SMART
EGF_CA 938 979 3.48e-14 SMART
EGF_CA 980 1018 1.7e-8 SMART
EGF_CA 1019 1061 8.18e-11 SMART
EGF_CA 1062 1106 5.08e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113498
SMART Domains Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Blast:VWC 72 138 8e-35 BLAST
low complexity region 201 215 N/A INTRINSIC
low complexity region 217 233 N/A INTRINSIC
low complexity region 242 262 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 313 320 N/A INTRINSIC
ANATO 435 470 1.54e-11 SMART
ANATO 478 509 4.67e-2 SMART
ANATO 511 543 2.78e-9 SMART
low complexity region 546 569 N/A INTRINSIC
EGF_CA 594 635 3.1e-11 SMART
EGF 672 708 1.88e-1 SMART
EGF_CA 709 753 1.34e-6 SMART
EGF_CA 754 799 1.65e-6 SMART
EGF_CA 800 847 2.06e-7 SMART
EGF_CA 848 890 3.56e-11 SMART
EGF_CA 891 932 3.48e-14 SMART
EGF_CA 933 971 1.7e-8 SMART
EGF_CA 972 1014 8.18e-11 SMART
EGF_CA 1015 1059 5.08e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137029
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out alle are viable, fertile and grossly normal with no apparent defects in elastic fiber formation in the aorta and skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,600 (GRCm39) probably null Het
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I possibly damaging Het
Other mutations in Fbln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Fbln2 APN 6 91,243,374 (GRCm39) missense probably damaging 1.00
IGL01664:Fbln2 APN 6 91,210,439 (GRCm39) missense probably damaging 0.96
IGL02110:Fbln2 APN 6 91,211,084 (GRCm39) missense probably benign 0.01
IGL02227:Fbln2 APN 6 91,233,349 (GRCm39) missense possibly damaging 0.90
IGL02814:Fbln2 APN 6 91,242,839 (GRCm39) nonsense probably null
IGL03287:Fbln2 APN 6 91,210,476 (GRCm39) missense probably damaging 1.00
IGL03412:Fbln2 APN 6 91,248,763 (GRCm39) missense probably damaging 1.00
IGL03014:Fbln2 UTSW 6 91,242,901 (GRCm39) intron probably benign
R0103:Fbln2 UTSW 6 91,248,532 (GRCm39) missense probably benign
R0103:Fbln2 UTSW 6 91,248,532 (GRCm39) missense probably benign
R1563:Fbln2 UTSW 6 91,240,365 (GRCm39) nonsense probably null
R1843:Fbln2 UTSW 6 91,242,757 (GRCm39) missense probably damaging 1.00
R1846:Fbln2 UTSW 6 91,233,399 (GRCm39) missense possibly damaging 0.91
R1994:Fbln2 UTSW 6 91,211,283 (GRCm39) missense probably damaging 1.00
R2431:Fbln2 UTSW 6 91,246,955 (GRCm39) missense probably damaging 0.98
R2443:Fbln2 UTSW 6 91,236,693 (GRCm39) missense probably damaging 1.00
R2925:Fbln2 UTSW 6 91,242,837 (GRCm39) missense probably damaging 1.00
R3030:Fbln2 UTSW 6 91,210,697 (GRCm39) missense probably damaging 1.00
R3758:Fbln2 UTSW 6 91,233,363 (GRCm39) missense probably damaging 1.00
R3854:Fbln2 UTSW 6 91,243,353 (GRCm39) missense probably damaging 1.00
R4627:Fbln2 UTSW 6 91,236,749 (GRCm39) missense probably damaging 1.00
R4752:Fbln2 UTSW 6 91,233,225 (GRCm39) missense probably benign
R4763:Fbln2 UTSW 6 91,246,982 (GRCm39) missense probably damaging 1.00
R4798:Fbln2 UTSW 6 91,246,168 (GRCm39) missense probably benign 0.03
R4877:Fbln2 UTSW 6 91,210,477 (GRCm39) missense probably damaging 1.00
R4878:Fbln2 UTSW 6 91,233,977 (GRCm39) critical splice donor site probably null
R4937:Fbln2 UTSW 6 91,241,681 (GRCm39) missense probably damaging 0.99
R4969:Fbln2 UTSW 6 91,248,569 (GRCm39) missense possibly damaging 0.64
R4996:Fbln2 UTSW 6 91,242,992 (GRCm39) missense probably benign 0.05
R5344:Fbln2 UTSW 6 91,243,365 (GRCm39) missense probably damaging 1.00
R5681:Fbln2 UTSW 6 91,248,778 (GRCm39) missense probably damaging 1.00
R5838:Fbln2 UTSW 6 91,248,830 (GRCm39) missense possibly damaging 0.55
R6035:Fbln2 UTSW 6 91,240,335 (GRCm39) missense probably damaging 1.00
R6035:Fbln2 UTSW 6 91,240,335 (GRCm39) missense probably damaging 1.00
R6288:Fbln2 UTSW 6 91,210,263 (GRCm39) missense probably damaging 1.00
R6433:Fbln2 UTSW 6 91,210,254 (GRCm39) missense probably damaging 1.00
R6451:Fbln2 UTSW 6 91,211,241 (GRCm39) missense probably benign 0.18
R6491:Fbln2 UTSW 6 91,236,732 (GRCm39) missense possibly damaging 0.68
R6520:Fbln2 UTSW 6 91,236,641 (GRCm39) missense probably damaging 1.00
R6657:Fbln2 UTSW 6 91,236,732 (GRCm39) missense possibly damaging 0.68
R6987:Fbln2 UTSW 6 91,211,211 (GRCm39) missense probably benign 0.00
R7344:Fbln2 UTSW 6 91,246,955 (GRCm39) missense probably damaging 0.98
R7485:Fbln2 UTSW 6 91,247,143 (GRCm39) splice site probably null
R7488:Fbln2 UTSW 6 91,242,845 (GRCm39) critical splice donor site probably null
R7571:Fbln2 UTSW 6 91,245,557 (GRCm39) missense probably damaging 1.00
R7667:Fbln2 UTSW 6 91,210,649 (GRCm39) missense probably damaging 1.00
R7776:Fbln2 UTSW 6 91,246,181 (GRCm39) missense probably damaging 1.00
R7779:Fbln2 UTSW 6 91,210,176 (GRCm39) missense probably damaging 1.00
R8320:Fbln2 UTSW 6 91,234,749 (GRCm39) missense possibly damaging 0.51
R8487:Fbln2 UTSW 6 91,227,846 (GRCm39) missense probably damaging 0.97
R8871:Fbln2 UTSW 6 91,233,215 (GRCm39) critical splice acceptor site probably null
R8912:Fbln2 UTSW 6 91,240,420 (GRCm39) missense possibly damaging 0.95
R8931:Fbln2 UTSW 6 91,246,072 (GRCm39) missense probably damaging 1.00
R9127:Fbln2 UTSW 6 91,210,473 (GRCm39) missense probably damaging 0.98
R9248:Fbln2 UTSW 6 91,231,556 (GRCm39) missense possibly damaging 0.51
R9566:Fbln2 UTSW 6 91,231,513 (GRCm39) missense probably benign 0.01
Z1088:Fbln2 UTSW 6 91,210,328 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGCGGGCAATCATGAACTTTATTC -3'
(R):5'- TGTCCCAGTGGCAGTAAAGAG -3'

Sequencing Primer
(F):5'- CTTTATTCTGAGAAGCCAGCAG -3'
(R):5'- GCAGTAAAGAGCCCTGGATCAC -3'
Posted On 2015-04-29