Incidental Mutation 'R1563:Fbln2'
ID 170748
Institutional Source Beutler Lab
Gene Symbol Fbln2
Ensembl Gene ENSMUSG00000064080
Gene Name fibulin 2
Synonyms 5730577E14Rik
MMRRC Submission 039602-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1563 (G1)
Quality Score 173
Status Validated
Chromosome 6
Chromosomal Location 91189442-91249522 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 91240365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 724 (E724*)
Ref Sequence ENSEMBL: ENSMUSP00000109126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041544] [ENSMUST00000113498]
AlphaFold P37889
Predicted Effect probably null
Transcript: ENSMUST00000041544
AA Change: E771*
SMART Domains Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: E771*

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
AA Change: E724*
SMART Domains Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: E724*

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: ENSMUST00000134286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137029
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 98% (82/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,001,569 (GRCm39) M22T probably benign Het
A930018M24Rik A G 14: 51,134,576 (GRCm39) L22P probably damaging Het
Aipl1 A T 11: 71,927,538 (GRCm39) M59K probably damaging Het
Atg2b T C 12: 105,589,747 (GRCm39) I1835V probably damaging Het
Cacna1i A T 15: 80,274,056 (GRCm39) probably benign Het
Cacna1i T C 15: 80,205,389 (GRCm39) V115A probably damaging Het
Catsperb T A 12: 101,554,361 (GRCm39) M685K probably damaging Het
Cdh10 T A 15: 18,986,853 (GRCm39) Y361* probably null Het
Clcn4 C T 7: 7,296,981 (GRCm39) C219Y probably damaging Het
Cpeb2 G A 5: 43,443,080 (GRCm39) V924M probably damaging Het
Cpxm2 T C 7: 131,745,411 (GRCm39) E138G probably benign Het
Dennd1a T C 2: 37,748,441 (GRCm39) Y346C probably damaging Het
Dnah8 T A 17: 30,854,638 (GRCm39) L100Q probably benign Het
Dnajc6 A C 4: 101,456,334 (GRCm39) N76T probably damaging Het
Ehbp1 A G 11: 22,009,231 (GRCm39) L954P probably damaging Het
Eral1 A T 11: 77,966,232 (GRCm39) D315E probably benign Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Fzd3 T A 14: 65,473,173 (GRCm39) E198D probably damaging Het
Fzd9 T C 5: 135,279,408 (GRCm39) N159S probably damaging Het
Galnt6 T A 15: 100,601,259 (GRCm39) Q340L probably benign Het
Gm20939 C T 17: 95,184,522 (GRCm39) A390V probably damaging Het
Gm5435 T G 12: 82,542,464 (GRCm39) noncoding transcript Het
Gm9949 A C 18: 62,317,089 (GRCm39) probably benign Het
Gprc5b G A 7: 118,582,984 (GRCm39) T295I probably benign Het
Gria2 G T 3: 80,598,704 (GRCm39) Q777K probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Haao T C 17: 84,142,318 (GRCm39) T174A probably benign Het
Hes6 A T 1: 91,340,858 (GRCm39) M1K probably null Het
Hook3 G T 8: 26,600,780 (GRCm39) Q43K probably benign Het
Klhl35 T C 7: 99,120,902 (GRCm39) V390A probably damaging Het
Myh9 G T 15: 77,656,057 (GRCm39) T1151K probably damaging Het
Nbn A T 4: 15,981,668 (GRCm39) I587F possibly damaging Het
Nek4 A G 14: 30,704,408 (GRCm39) D696G probably damaging Het
Niban1 A T 1: 151,591,424 (GRCm39) Y522F possibly damaging Het
Nlrp2 T C 7: 5,311,724 (GRCm39) D52G probably damaging Het
Oit3 G T 10: 59,263,896 (GRCm39) R413S probably damaging Het
Or4k48 T A 2: 111,476,027 (GRCm39) H105L probably damaging Het
Or6c1b A G 10: 129,273,580 (GRCm39) M300V probably benign Het
Otof T C 5: 30,528,349 (GRCm39) T1870A probably benign Het
Pdgfd T C 9: 6,293,939 (GRCm39) probably null Het
Pitrm1 T C 13: 6,613,506 (GRCm39) V526A possibly damaging Het
Pknox1 T C 17: 31,814,256 (GRCm39) S194P probably damaging Het
Plekhg5 T C 4: 152,181,266 (GRCm39) S8P probably benign Het
Ppp1r13b T C 12: 111,807,416 (GRCm39) E157G probably damaging Het
Psmd3 C T 11: 98,585,051 (GRCm39) R466W probably damaging Het
Ptgfrn A G 3: 100,967,967 (GRCm39) F542S possibly damaging Het
Ptgs1 A T 2: 36,135,214 (GRCm39) M393L possibly damaging Het
Qpct T A 17: 79,371,492 (GRCm39) S87T probably benign Het
Qtrt1 T A 9: 21,330,607 (GRCm39) V269D probably benign Het
Rassf9 C G 10: 102,380,821 (GRCm39) R68G probably damaging Het
Relch A G 1: 105,647,259 (GRCm39) Y707C probably damaging Het
Rif1 A G 2: 51,963,235 (GRCm39) E25G probably damaging Het
Rnf213 T C 11: 119,305,352 (GRCm39) F528L probably benign Het
Sgip1 T C 4: 102,823,457 (GRCm39) S693P probably benign Het
She A G 3: 89,761,921 (GRCm39) D460G probably benign Het
Sipa1l1 G T 12: 82,387,935 (GRCm39) V54L probably benign Het
Slc8a3 T A 12: 81,251,781 (GRCm39) D640V possibly damaging Het
Smurf1 T A 5: 144,819,323 (GRCm39) E601D probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synpo2l A G 14: 20,711,346 (GRCm39) S425P probably damaging Het
Tbck T C 3: 132,421,454 (GRCm39) V187A possibly damaging Het
Tcf23 A T 5: 31,126,175 (GRCm39) H18L probably benign Het
Tcp11l2 A G 10: 84,420,808 (GRCm39) S16G probably damaging Het
Tekt2 T A 4: 126,217,200 (GRCm39) M233L probably benign Het
Tex14 T C 11: 87,427,634 (GRCm39) S29P probably damaging Het
Tjp2 T A 19: 24,110,067 (GRCm39) N59I probably damaging Het
Tlr5 G A 1: 182,802,575 (GRCm39) M626I probably benign Het
Tnn A T 1: 159,952,985 (GRCm39) V685D probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trhr G A 15: 44,060,497 (GRCm39) V6I probably benign Het
Trim30c C T 7: 104,032,158 (GRCm39) R301Q probably benign Het
Usp51 T C X: 151,790,988 (GRCm39) I194T probably benign Het
Vmn2r63 A G 7: 42,553,550 (GRCm39) S569P probably benign Het
Vps26a T G 10: 62,300,459 (GRCm39) I236L probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zcchc14 T C 8: 122,330,718 (GRCm39) M882V probably benign Het
Zfhx2 A G 14: 55,302,545 (GRCm39) V1813A probably benign Het
Zswim2 C T 2: 83,745,626 (GRCm39) G604D possibly damaging Het
Zzef1 C T 11: 72,739,559 (GRCm39) Q669* probably null 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
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
R4006:Fbln2 UTSW 6 91,246,943 (GRCm39) splice site probably null
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'- TTCTCCCTGCATGGTGAGTACCTG -3'
(R):5'- CACTTCAGTGTGCAAATGGGGAAAC -3'

Sequencing Primer
(F):5'- TGAGTACCTGAGGTCAGAGCC -3'
(R):5'- agtctgcgtgacaagtcc -3'
Posted On 2014-04-13