Incidental Mutation 'R0212:Fgf21'
ID 33538
Institutional Source Beutler Lab
Gene Symbol Fgf21
Ensembl Gene ENSMUSG00000030827
Gene Name fibroblast growth factor 21
Synonyms
MMRRC Submission 038463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0212 (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 T at 45263526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 184 (P184Q)
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 benign
Transcript: ENSMUST00000033099
AA Change: P184Q

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827
AA Change: P184Q

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,006,254 (GRCm39) probably null Het
Adat1 T A 8: 112,713,840 (GRCm39) D113V possibly damaging Het
Arhgap40 T G 2: 158,392,495 (GRCm39) L656V probably damaging Het
Atg2a T C 19: 6,296,584 (GRCm39) I330T probably damaging Het
Cad A G 5: 31,235,454 (GRCm39) D2137G probably damaging Het
Cd8a G A 6: 71,350,633 (GRCm39) E33K probably benign Het
Cemip C A 7: 83,622,398 (GRCm39) G594C probably damaging Het
Chd6 T A 2: 160,894,767 (GRCm39) D31V probably damaging Het
Cmpk1 A T 4: 114,822,216 (GRCm39) M111K possibly damaging Het
Crispld2 T G 8: 120,737,370 (GRCm39) H40Q probably benign Het
Depdc5 A G 5: 33,069,586 (GRCm39) T441A probably benign Het
Dpm1 T C 2: 168,069,414 (GRCm39) N5S probably benign Het
Ercc4 A G 16: 12,941,196 (GRCm39) probably null Het
Fam83f A T 15: 80,574,779 (GRCm39) M229L probably benign Het
Fgd5 A T 6: 91,965,189 (GRCm39) D474V probably damaging Het
Fry A T 5: 150,419,862 (GRCm39) D1008V probably damaging Het
Gjd2 T C 2: 113,841,953 (GRCm39) T175A probably benign Het
Gphn C T 12: 78,684,326 (GRCm39) T577I probably damaging Het
Ifi207 A T 1: 173,563,964 (GRCm39) N18K possibly damaging Het
Ifne T C 4: 88,797,972 (GRCm39) R149G possibly damaging Het
Ift80 A T 3: 68,847,506 (GRCm39) L330H probably benign Het
Inpp4b A T 8: 82,497,546 (GRCm39) H122L probably benign Het
Inpp5e T C 2: 26,298,352 (GRCm39) probably null Het
Ism1 T C 2: 139,582,177 (GRCm39) L163S probably benign Het
Itga11 T A 9: 62,653,251 (GRCm39) V375E probably benign Het
Itpr3 T G 17: 27,308,293 (GRCm39) F306V probably damaging Het
Kif19a A T 11: 114,675,736 (GRCm39) I403F possibly damaging Het
Klf12 A T 14: 100,260,298 (GRCm39) S144T probably benign Het
Lyst C T 13: 13,810,570 (GRCm39) H747Y possibly damaging Het
Mccc2 A G 13: 100,091,163 (GRCm39) Y445H probably benign Het
Mei1 G A 15: 81,980,132 (GRCm39) probably null Het
Metap2 T A 10: 93,697,242 (GRCm39) K479N probably damaging Het
Mief2 A T 11: 60,621,493 (GRCm39) D62V probably damaging Het
Mtrf1 A G 14: 79,656,719 (GRCm39) D407G probably benign Het
Myo3a A G 2: 22,296,659 (GRCm39) R210G probably damaging Het
Nkx2-2 T C 2: 147,026,090 (GRCm39) H216R probably damaging Het
Nos1 A G 5: 118,048,277 (GRCm39) E694G possibly damaging Het
Nptn A T 9: 58,535,164 (GRCm39) Y103F probably benign Het
Nrxn1 A G 17: 90,670,186 (GRCm39) probably benign Het
Numbl T C 7: 26,980,184 (GRCm39) S389P probably damaging Het
Or10d5 A G 9: 39,861,236 (GRCm39) V277A probably benign Het
Or1q1 T A 2: 36,887,644 (GRCm39) V274E possibly damaging Het
Or1q1 A T 2: 36,887,335 (GRCm39) D171V probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5d16 A G 2: 87,773,435 (GRCm39) F179S probably damaging Het
Or5i1 C T 2: 87,613,826 (GRCm39) P314L unknown Het
Or8g20 C A 9: 39,396,384 (GRCm39) S55I probably damaging Het
Osm T G 11: 4,188,465 (GRCm39) S31A probably benign Het
Paqr4 T C 17: 23,957,294 (GRCm39) M70V probably benign Het
Pikfyve T A 1: 65,302,064 (GRCm39) Y1607N probably benign Het
Plec A C 15: 76,075,505 (GRCm39) Y402* probably null Het
Polq A G 16: 36,887,216 (GRCm39) K1631E probably damaging Het
Pou6f1 A G 15: 100,478,696 (GRCm39) V129A possibly damaging Het
Prm2 A G 16: 10,609,463 (GRCm39) probably benign Het
Prtn3 A G 10: 79,716,971 (GRCm39) Y112C probably damaging Het
Qrfp T A 2: 31,698,797 (GRCm39) H45L probably benign Het
Rps6ka5 A T 12: 100,519,428 (GRCm39) probably null Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Slc10a1 A C 12: 81,014,486 (GRCm39) L78R possibly damaging Het
Slc26a5 A T 5: 22,028,547 (GRCm39) Y340* probably null Het
Sptbn2 T C 19: 4,796,970 (GRCm39) probably null Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
Tmem131l A T 3: 83,820,575 (GRCm39) S1226T probably benign Het
Togaram2 C T 17: 72,031,978 (GRCm39) L866F probably damaging Het
Txndc17 A G 11: 72,098,558 (GRCm39) T37A probably benign Het
Vmn2r105 C A 17: 20,428,827 (GRCm39) V750F possibly damaging Het
Vmn2r54 T A 7: 12,366,424 (GRCm39) Y170F probably benign Het
Wrnip1 T C 13: 33,005,889 (GRCm39) V577A probably benign Het
Zc3h7b A G 15: 81,660,529 (GRCm39) T226A probably benign Het
Zfp948 T C 17: 21,808,422 (GRCm39) I538T probably benign Het
Zzef1 A G 11: 72,764,736 (GRCm39) E1401G possibly 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
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
R5151:Fgf21 UTSW 7 45,263,456 (GRCm39) missense probably damaging 1.00
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'- TATCAGAGCCCAAAATGGTGCCCAG -3'
(R):5'- GGAGGACGGTTACAATGTGTACCAG -3'

Sequencing Primer
(F):5'- TGACAGGGTCTCAGGTTCAAAG -3'
(R):5'- ATGTGTACCAGTCTGAAGCC -3'
Posted On 2013-05-09