Incidental Mutation 'R5151:Fgf21'
ID 395362
Institutional Source Beutler Lab
Gene Symbol Fgf21
Ensembl Gene ENSMUSG00000030827
Gene Name fibroblast growth factor 21
Synonyms
MMRRC Submission 042733-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5151 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45263314-45264914 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 45263456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 207 (S207R)
Ref Sequence ENSEMBL: ENSMUSP00000033099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033099] [ENSMUST00000209379] [ENSMUST00000210150]
AlphaFold Q9JJN1
Predicted Effect probably benign
Transcript: ENSMUST00000008605
SMART Domains Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Glyco_transf_11 39 355 3.1e-126 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000033099
AA Change: S207R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827
AA Change: S207R

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
FGF 44 169 3.95e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209379
Predicted Effect probably benign
Transcript: ENSMUST00000210150
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Theis gene encodes a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. This protein is a secreted endocrine factor that functions as a major metabolic regulator. The encoded protein stimulates the uptake of glucose in adipose tissue. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased circulating glucose levels, oxygen consumption, and gluconeogenesis in fasted mice and increased circulating ketone levels in fed mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b T A 15: 101,108,651 (GRCm39) C476S probably damaging Het
Agpat2 A G 2: 26,487,218 (GRCm39) M120T probably damaging Het
Ahnak A G 19: 8,994,933 (GRCm39) T5406A probably benign Het
Ano4 A G 10: 88,948,775 (GRCm39) F112L probably damaging Het
Arhgef11 T A 3: 87,642,667 (GRCm39) V1371D probably damaging Het
Ascc3 A G 10: 50,514,059 (GRCm39) N286S probably damaging Het
Ate1 T C 7: 130,109,394 (GRCm39) K202E possibly damaging Het
Cacna1d T C 14: 29,845,280 (GRCm39) T630A probably damaging Het
Ccdc187 G T 2: 26,183,451 (GRCm39) T183N probably damaging Het
Cdk12 C T 11: 98,140,749 (GRCm39) probably benign Het
Ciita A G 16: 10,341,594 (GRCm39) N978S probably damaging Het
Cit A T 5: 116,117,894 (GRCm39) Q1268L probably damaging Het
Csf2rb C T 15: 78,224,781 (GRCm39) R180W probably damaging Het
Dnah17 T C 11: 117,918,293 (GRCm39) I4079V probably damaging Het
Dnah7a A G 1: 53,659,929 (GRCm39) V693A probably benign Het
Dnah8 T A 17: 30,931,269 (GRCm39) V1428E probably benign Het
Dnhd1 C A 7: 105,362,647 (GRCm39) Q3777K probably benign Het
Dock9 A G 14: 121,815,582 (GRCm39) Y1666H probably damaging Het
Dpysl3 C T 18: 43,571,145 (GRCm39) G43D probably benign Het
Eftud2 A G 11: 102,758,670 (GRCm39) probably null Het
Erich4 T C 7: 25,315,292 (GRCm39) probably benign Het
Fah T A 7: 84,250,259 (GRCm39) D99V possibly damaging Het
Fat1 T C 8: 45,404,851 (GRCm39) V534A possibly damaging Het
Fras1 C T 5: 96,792,969 (GRCm39) P967S probably damaging Het
H2-T23 T C 17: 36,343,230 (GRCm39) D49G probably damaging Het
Hmcn2 A G 2: 31,279,455 (GRCm39) N1819S probably null Het
Hoxc12 A G 15: 102,846,881 (GRCm39) I258V probably damaging Het
Ighv1-22 T A 12: 114,709,928 (GRCm39) T106S probably damaging Het
Inpp5j T C 11: 3,452,270 (GRCm39) T327A probably damaging Het
Iqgap3 G T 3: 88,025,067 (GRCm39) M689I possibly damaging Het
Itga7 G A 10: 128,780,380 (GRCm39) G559S possibly damaging Het
Kcnq1 G T 7: 142,979,749 (GRCm39) V632L probably benign Het
Lsamp T C 16: 41,954,792 (GRCm39) V230A probably damaging Het
Mfn2 A T 4: 147,970,785 (GRCm39) S305T probably benign Het
Myom3 A G 4: 135,516,883 (GRCm39) T818A probably benign Het
Nacc2 G A 2: 25,980,365 (GRCm39) R24C probably damaging Het
Ntrk3 A C 7: 77,897,048 (GRCm39) I663R probably damaging Het
Nyap1 A G 5: 137,734,376 (GRCm39) V219A probably damaging Het
Obox3 A T 7: 15,360,173 (GRCm39) N165K probably damaging Het
Or13a1 T A 6: 116,470,765 (GRCm39) L65* probably null Het
Or13j1 A T 4: 43,706,518 (GRCm39) F17I probably damaging Het
Or2y12 A G 11: 49,426,242 (GRCm39) T77A possibly damaging Het
Or52e2 C A 7: 102,804,593 (GRCm39) M120I probably damaging Het
Or55b4 G A 7: 102,134,192 (GRCm39) T45I probably benign Het
Pask A T 1: 93,262,350 (GRCm39) L170H probably damaging Het
Piezo2 A T 18: 63,163,480 (GRCm39) I2146N possibly damaging Het
Pitpnm2 A T 5: 124,274,449 (GRCm39) M220K probably damaging Het
Pkhd1l1 A G 15: 44,368,705 (GRCm39) D841G probably benign Het
Pla2g3 C T 11: 3,440,827 (GRCm39) T264M probably benign Het
Plcb1 A T 2: 135,104,165 (GRCm39) Y278F probably benign Het
Prkdc T C 16: 15,533,899 (GRCm39) L1579P probably damaging Het
Rad51ap2 T A 12: 11,507,516 (GRCm39) N479K probably benign Het
Rasgrf2 T C 13: 92,044,155 (GRCm39) H966R probably damaging Het
Rbm27 A G 18: 42,471,509 (GRCm39) D996G probably damaging Het
Rif1 A C 2: 52,010,321 (GRCm39) K2337T probably damaging Het
Rpl13a G T 7: 44,775,385 (GRCm39) N442K probably benign Het
Serpini2 T A 3: 75,153,820 (GRCm39) T380S possibly damaging Het
Setbp1 A T 18: 78,901,214 (GRCm39) W818R probably damaging Het
Siae T A 9: 37,542,869 (GRCm39) C185S probably benign Het
Slc15a2 A G 16: 36,572,659 (GRCm39) V674A probably damaging Het
Slc40a1 A T 1: 45,950,516 (GRCm39) M312K possibly damaging Het
Slc46a3 A G 5: 147,823,566 (GRCm39) L92S probably damaging Het
Son T C 16: 91,452,587 (GRCm39) S445P probably damaging Het
Syne2 T C 12: 76,090,484 (GRCm39) F351L probably benign Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Tmem248 T A 5: 130,269,238 (GRCm39) L277H probably damaging Het
Unc13c T A 9: 73,838,757 (GRCm39) H698L probably benign Het
Ushbp1 A G 8: 71,847,799 (GRCm39) V24A possibly damaging Het
Usp24 G T 4: 106,256,309 (GRCm39) probably null Het
Vmn2r50 T G 7: 9,786,970 (GRCm39) I46L probably benign Het
Zfp106 T C 2: 120,365,208 (GRCm39) T423A probably benign Het
Zfp663 T A 2: 165,195,113 (GRCm39) T369S probably benign Het
Zmynd11 T C 13: 9,740,953 (GRCm39) T382A probably damaging Het
Other mutations in Fgf21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Fgf21 APN 7 45,264,597 (GRCm39) missense probably damaging 1.00
IGL02104:Fgf21 APN 7 45,264,648 (GRCm39) missense probably benign 0.23
IGL02286:Fgf21 APN 7 45,264,561 (GRCm39) missense possibly damaging 0.56
IGL03074:Fgf21 APN 7 45,263,605 (GRCm39) missense probably benign
R0212:Fgf21 UTSW 7 45,263,526 (GRCm39) missense probably benign 0.18
R0233:Fgf21 UTSW 7 45,264,721 (GRCm39) missense probably benign 0.00
R0233:Fgf21 UTSW 7 45,264,721 (GRCm39) missense probably benign 0.00
R5724:Fgf21 UTSW 7 45,264,729 (GRCm39) start codon destroyed probably null 0.02
R6002:Fgf21 UTSW 7 45,264,651 (GRCm39) missense probably benign
R9331:Fgf21 UTSW 7 45,263,614 (GRCm39) missense probably benign 0.01
R9570:Fgf21 UTSW 7 45,264,594 (GRCm39) missense probably damaging 1.00
R9614:Fgf21 UTSW 7 45,264,703 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTCAGGTTCAAAGAAACACAGG -3'
(R):5'- GTACCAGTCTGAAGCCCATG -3'

Sequencing Primer
(F):5'- GAAACACAGGAAACATATCTCAGTTC -3'
(R):5'- TCTGCCTCAGAAGGACTCC -3'
Posted On 2016-06-21