Incidental Mutation 'R5838:Fbln2'
ID 449718
Institutional Source Beutler Lab
Gene Symbol Fbln2
Ensembl Gene ENSMUSG00000064080
Gene Name fibulin 2
Synonyms 5730577E14Rik
MMRRC Submission 044058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5838 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 91189442-91249522 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91248830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1165 (M1165T)
Ref Sequence ENSEMBL: ENSMUSP00000109126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041544] [ENSMUST00000113498]
AlphaFold P37889
Predicted Effect probably benign
Transcript: ENSMUST00000041544
AA Change: M1212T

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: M1212T

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 possibly damaging
Transcript: ENSMUST00000113498
AA Change: M1165T

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: M1165T

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,863,706 (GRCm39) V385I probably benign Het
Apmap T C 2: 150,427,777 (GRCm39) Y315C probably damaging Het
Arhgef12 G A 9: 42,916,904 (GRCm39) T414I probably damaging Het
Cd200r1 C A 16: 44,586,397 (GRCm39) A9D possibly damaging Het
Cdkal1 T C 13: 29,875,669 (GRCm39) D183G probably benign Het
Clk1 C A 1: 58,451,819 (GRCm39) C432F probably damaging Het
Col27a1 G T 4: 63,143,765 (GRCm39) L484F probably damaging Het
Col7a1 A G 9: 108,807,211 (GRCm39) E2480G unknown Het
Dnah5 A G 15: 28,290,341 (GRCm39) I1244V probably benign Het
Dock3 G T 9: 106,772,687 (GRCm39) P522Q possibly damaging Het
Drc1 T A 5: 30,523,857 (GRCm39) probably null Het
Epas1 C T 17: 87,131,114 (GRCm39) T298I possibly damaging Het
Epha1 A T 6: 42,338,580 (GRCm39) I699N probably damaging Het
Ephb3 T C 16: 21,040,437 (GRCm39) S558P probably damaging Het
Epn1 T A 7: 5,100,165 (GRCm39) L426* probably null Het
Fam234b T C 6: 135,202,265 (GRCm39) V329A probably benign Het
Fasn G T 11: 120,706,950 (GRCm39) R901S probably damaging Het
Fer1l4 T C 2: 155,893,913 (GRCm39) R103G probably benign Het
G6pd2 T A 5: 61,966,568 (GRCm39) D114E probably benign Het
Galnt10 A G 11: 57,671,882 (GRCm39) K391E probably damaging Het
Gpr150 C A 13: 76,204,045 (GRCm39) C300F probably benign Het
Hhipl2 A G 1: 183,204,479 (GRCm39) T151A probably damaging Het
Hmcn2 C A 2: 31,347,819 (GRCm39) L4822M probably damaging Het
Ifi207 T A 1: 173,559,953 (GRCm39) Q173L unknown Het
Inca1 T C 11: 70,580,707 (GRCm39) E86G probably damaging Het
Iqca1 A G 1: 90,072,667 (GRCm39) L71P probably benign Het
Kank2 G T 9: 21,706,689 (GRCm39) Q110K probably damaging Het
Katnip A T 7: 125,466,827 (GRCm39) M1361L possibly damaging Het
Kif13b A T 14: 64,975,004 (GRCm39) M407L probably damaging Het
Kif5a A C 10: 127,081,310 (GRCm39) I208S probably damaging Het
Kmt2c T C 5: 25,489,469 (GRCm39) K4490R probably damaging Het
Ltbp2 C T 12: 84,835,875 (GRCm39) R1352H probably benign Het
Macf1 T C 4: 123,345,947 (GRCm39) Q2061R possibly damaging Het
Marcks A G 10: 37,012,163 (GRCm39) S291P probably benign Het
Mccc1 A G 3: 36,039,231 (GRCm39) V254A possibly damaging Het
Mdn1 C T 4: 32,754,547 (GRCm39) R4683W probably damaging Het
Mon2 A G 10: 122,846,397 (GRCm39) probably null Het
Ndrg4 A T 8: 96,433,421 (GRCm39) H134L probably damaging Het
Nek7 C A 1: 138,462,101 (GRCm39) probably null Het
Nlrc3 C T 16: 3,771,859 (GRCm39) S151N probably damaging Het
Nsl1 C A 1: 190,802,310 (GRCm39) A146E probably benign Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or2y1e A C 11: 49,218,760 (GRCm39) N174T probably damaging Het
Or52ac1 A G 7: 104,246,104 (GRCm39) Y95H probably benign Het
Or5b120 T A 19: 13,479,922 (GRCm39) Y72N probably damaging Het
Or6c210 A T 10: 129,495,907 (GRCm39) R77S probably benign Het
Pde4d A C 13: 109,876,976 (GRCm39) S41R probably damaging Het
Phlpp1 T A 1: 106,274,862 (GRCm39) L875* probably null Het
Pkd1 T A 17: 24,799,186 (GRCm39) S2802T possibly damaging Het
Polr3b A G 10: 84,510,454 (GRCm39) T500A probably benign Het
Ppp2r2c T C 5: 37,097,531 (GRCm39) V239A probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Reln T A 5: 22,104,111 (GRCm39) I3287F probably damaging Het
Scube2 T C 7: 109,407,651 (GRCm39) D763G probably damaging Het
Setd5 T C 6: 113,096,396 (GRCm39) V534A probably benign Het
Slc10a4 T A 5: 73,169,373 (GRCm39) C333S probably benign Het
Slc15a1 G A 14: 121,722,283 (GRCm39) A206V probably damaging Het
Snx14 A G 9: 88,273,829 (GRCm39) L654P probably damaging Het
Sowahc G A 10: 59,059,012 (GRCm39) A383T possibly damaging Het
Taf1b A G 12: 24,550,448 (GRCm39) D11G possibly damaging Het
Tap1 C T 17: 34,412,279 (GRCm39) Q164* probably null Het
Tbcel T A 9: 42,327,168 (GRCm39) R430W probably damaging Het
Trappc11 A T 8: 47,965,594 (GRCm39) probably null Het
Trim15 T C 17: 37,173,732 (GRCm39) I259V probably damaging Het
Trpt1 T C 19: 6,975,668 (GRCm39) S141P probably damaging Het
Tsc2 T A 17: 24,832,190 (GRCm39) Q732L probably benign Het
Tstd3 C A 4: 21,759,622 (GRCm39) probably null Het
Unc13d T C 11: 115,955,451 (GRCm39) K914R possibly damaging Het
Unk A G 11: 115,940,157 (GRCm39) E170G probably damaging Het
Uqcc2 T A 17: 27,344,860 (GRCm39) K62* probably null Het
Vim A G 2: 13,585,001 (GRCm39) D394G probably damaging Het
Wdr47 G A 3: 108,532,052 (GRCm39) 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
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
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
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'- GACCATCACGAAGGGCAATG -3'
(R):5'- TTGCAGGTCACCATCTAGC -3'

Sequencing Primer
(F):5'- CAATGAGGAGGGCTACTTCGTCAC -3'
(R):5'- CTGTACTCAGTGCCTGCTGG -3'
Posted On 2016-12-20