Incidental Mutation 'R0052:Fgl2'
ID15359
Institutional Source Beutler Lab
Gene Symbol Fgl2
Ensembl Gene ENSMUSG00000039899
Gene Namefibrinogen-like protein 2
Synonyms
MMRRC Submission 038346-MU
Accession Numbers

Genbank: NM_008013; MGI: 103266

Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #R0052 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location21372642-21378374 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21375349 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 230 (S230C)
Ref Sequence ENSEMBL: ENSMUSP00000046131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030552] [ENSMUST00000035799] [ENSMUST00000115245]
Predicted Effect probably benign
Transcript: ENSMUST00000030552
SMART Domains Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000035799
AA Change: S230C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046131
Gene: ENSMUSG00000039899
AA Change: S230C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 54 70 N/A INTRINSIC
coiled coil region 71 158 N/A INTRINSIC
FBG 201 428 1.6e-131 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115245
SMART Domains Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 120 130 N/A INTRINSIC
coiled coil region 194 320 N/A INTRINSIC
low complexity region 333 342 N/A INTRINSIC
coiled coil region 438 477 N/A INTRINSIC
coiled coil region 549 595 N/A INTRINSIC
coiled coil region 617 663 N/A INTRINSIC
coiled coil region 690 720 N/A INTRINSIC
coiled coil region 770 793 N/A INTRINSIC
Meta Mutation Damage Score 0.262 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 78.2%
  • 10x: 46.7%
  • 20x: 12.5%
Validation Efficiency 90% (62/69)
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 protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice for one allele have unaltered type 1 immunity responses. Homozygous null mice for another allele show partial embryonic lethality, hemorrhage at implantation sites, decreased susceptibility to hepatitis virus infection and prolongedsurvival of heart grafts. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,915,951 S438P possibly damaging Het
Atp2a1 A G 7: 126,457,897 probably benign Het
Bicd2 T A 13: 49,375,314 L184Q probably damaging Het
Bub1 G A 2: 127,809,039 T618I probably benign Het
Dsp A G 13: 38,197,364 D2096G possibly damaging Het
Eno4 A G 19: 58,968,553 D357G probably damaging Het
Fam214a A G 9: 75,018,983 probably benign Het
Fcrls A T 3: 87,256,778 I348N possibly damaging Het
Ginm1 T A 10: 7,779,306 E57D possibly damaging Het
Itga9 T A 9: 118,636,549 I157N probably damaging Het
Kif21a T C 15: 90,970,857 E700G probably damaging Het
Mmd C T 11: 90,259,998 probably benign Het
Morn3 T C 5: 123,046,663 Y38C probably damaging Het
Prex2 T A 1: 11,160,156 L802Q probably damaging Het
Psd3 A G 8: 67,882,979 probably null Het
Ralgds T A 2: 28,544,388 probably null Het
Rmdn2 A G 17: 79,650,331 E16G probably damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc4a4 A C 5: 89,156,336 H502P possibly damaging Het
Slco3a1 A T 7: 74,504,326 I166N probably benign Het
Snx5 A T 2: 144,259,192 probably null Het
Srgap1 T C 10: 121,800,827 D741G possibly damaging Het
St8sia2 G T 7: 73,943,290 Y339* probably null Het
Tdo2 T A 3: 81,967,025 N210I probably benign Het
Thada A T 17: 84,455,158 N104K probably damaging Het
Timm8b A T 9: 50,605,030 D61V possibly damaging Het
Trbv12-1 T C 6: 41,113,916 F74S possibly damaging Het
Tshz1 G A 18: 84,014,945 T446I possibly damaging Het
Ubap2l T C 3: 90,038,928 N123S possibly damaging Het
Usp12 A G 5: 146,739,104 V336A possibly damaging Het
Xrn2 T A 2: 147,040,965 probably benign Het
Zfp14 G T 7: 30,038,328 Q411K probably damaging Het
Other mutations in Fgl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Fgl2 APN 5 21373177 missense possibly damaging 0.57
IGL01623:Fgl2 APN 5 21373177 missense possibly damaging 0.57
IGL02056:Fgl2 APN 5 21375545 missense probably damaging 0.99
IGL03128:Fgl2 APN 5 21373293 missense probably benign
A4554:Fgl2 UTSW 5 21372778 missense probably benign 0.01
R0049:Fgl2 UTSW 5 21375663 missense possibly damaging 0.95
R0049:Fgl2 UTSW 5 21375663 missense possibly damaging 0.95
R0052:Fgl2 UTSW 5 21375349 missense probably damaging 1.00
R0149:Fgl2 UTSW 5 21375785 missense probably damaging 1.00
R0316:Fgl2 UTSW 5 21375523 missense possibly damaging 0.82
R1336:Fgl2 UTSW 5 21373183 missense possibly damaging 0.52
R1703:Fgl2 UTSW 5 21372732 missense possibly damaging 0.89
R1893:Fgl2 UTSW 5 21375671 missense probably benign 0.01
R2371:Fgl2 UTSW 5 21375818 missense probably damaging 1.00
R4803:Fgl2 UTSW 5 21375920 missense probably benign 0.00
R5250:Fgl2 UTSW 5 21375523 missense possibly damaging 0.82
R5422:Fgl2 UTSW 5 21375810 missense probably damaging 1.00
R6759:Fgl2 UTSW 5 21373258 missense probably benign 0.00
X0017:Fgl2 UTSW 5 21375652 missense probably damaging 0.98
X0026:Fgl2 UTSW 5 21375713 missense probably damaging 1.00
Posted On2012-12-17