Incidental Mutation 'R6289:Fgf22'
ID 531260
Institutional Source Beutler Lab
Gene Symbol Fgf22
Ensembl Gene ENSMUSG00000020327
Gene Name fibroblast growth factor 22
Synonyms 2210414E06Rik
MMRRC Submission 044459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6289 (G1)
Quality Score 57.0073
Status Validated
Chromosome 10
Chromosomal Location 79590887-79593629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79591041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 24 (D24G)
Ref Sequence ENSEMBL: ENSMUSP00000020577 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020577] [ENSMUST00000219228] [ENSMUST00000219981]
AlphaFold Q9ESS2
Predicted Effect probably damaging
Transcript: ENSMUST00000020577
AA Change: D24G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327
AA Change: D24G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 30 159 1.73e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219228
AA Change: D30G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219981
AA Change: D30G
Meta Mutation Damage Score 0.1176 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
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 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 including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired vesicle clustering in glutamatergic synapses, decreased miniature excitatory postsynaptic currents, enhanced paired-pulse facilitation, increased synaptic depression, and decreased susceptibility topentylenetetrazol-induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,480 (GRCm39) V94A probably damaging Het
Ankrd36 T C 11: 5,578,837 (GRCm39) S34P probably damaging Het
Arid3c G A 4: 41,724,285 (GRCm39) probably benign Het
Atg16l1 C T 1: 87,683,937 (GRCm39) R6C probably damaging Het
Bex6 A G 16: 32,005,530 (GRCm39) I113V probably benign Het
Blk T C 14: 63,613,341 (GRCm39) probably null Het
C1s1 A G 6: 124,508,135 (GRCm39) F618S probably damaging Het
Casp8ap2 C T 4: 32,639,590 (GRCm39) H215Y probably damaging Het
Casp9 T A 4: 141,534,496 (GRCm39) V302E probably damaging Het
Ccl2 A C 11: 81,927,795 (GRCm39) K80Q probably benign Het
Cit T G 5: 116,144,385 (GRCm39) *2014E probably null Het
Dclk2 A T 3: 86,739,124 (GRCm39) S292T probably benign Het
Ddx23 T C 15: 98,547,765 (GRCm39) E463G probably benign Het
Dennd1b T C 1: 139,096,683 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fgf10 C A 13: 118,852,028 (GRCm39) Q37K probably benign Het
Gabra1 A G 11: 42,045,846 (GRCm39) I88T probably damaging Het
Grip2 A G 6: 91,755,852 (GRCm39) I586T probably benign Het
H1f5 G T 13: 21,964,609 (GRCm39) P39Q probably damaging Het
Hpse2 T A 19: 42,777,418 (GRCm39) N583Y probably null Het
Katnal2 A G 18: 77,105,151 (GRCm39) probably null Het
Keg1 T G 19: 12,691,937 (GRCm39) C85G probably damaging Het
Kidins220 T A 12: 25,106,615 (GRCm39) L1356H probably damaging Het
Lifr A G 15: 7,196,391 (GRCm39) K192E probably benign Het
Mks1 T C 11: 87,750,485 (GRCm39) probably null Het
Or5b110-ps1 T C 19: 13,260,158 (GRCm39) K88R possibly damaging Het
Rars1 C T 11: 35,716,894 (GRCm39) M207I probably damaging Het
Rbm6 T C 9: 107,655,147 (GRCm39) Y896C probably damaging Het
Scarf1 T A 11: 75,416,242 (GRCm39) W472R possibly damaging Het
Septin8 A G 11: 53,425,305 (GRCm39) N66S probably damaging Het
Smcr8 T C 11: 60,669,424 (GRCm39) F191L probably damaging Het
Tdrd6 A G 17: 43,935,411 (GRCm39) M1879T probably benign Het
Tlr3 C T 8: 45,849,966 (GRCm39) R901Q probably benign Het
Trpc4ap T C 2: 155,505,627 (GRCm39) T203A possibly damaging Het
Tubgcp5 A G 7: 55,445,671 (GRCm39) S58G probably benign Het
Ubtd2 A G 11: 32,466,177 (GRCm39) E132G probably damaging Het
Uggt2 T A 14: 119,279,014 (GRCm39) E831V probably damaging Het
Umodl1 A G 17: 31,201,325 (GRCm39) N418S probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Wdhd1 A C 14: 47,495,953 (GRCm39) I637S possibly damaging Het
Other mutations in Fgf22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Fgf22 APN 10 79,592,724 (GRCm39) missense probably damaging 1.00
IGL01667:Fgf22 APN 10 79,592,588 (GRCm39) missense probably damaging 0.96
IGL02213:Fgf22 APN 10 79,592,449 (GRCm39) missense probably damaging 1.00
R1108:Fgf22 UTSW 10 79,592,417 (GRCm39) missense probably damaging 1.00
R1650:Fgf22 UTSW 10 79,591,023 (GRCm39) missense probably damaging 1.00
R2138:Fgf22 UTSW 10 79,592,435 (GRCm39) missense probably damaging 1.00
R5549:Fgf22 UTSW 10 79,592,696 (GRCm39) missense probably damaging 1.00
R6320:Fgf22 UTSW 10 79,592,830 (GRCm39) utr 3 prime probably benign
R7363:Fgf22 UTSW 10 79,592,676 (GRCm39) missense probably benign
RF017:Fgf22 UTSW 10 79,592,680 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACAGAACCCGCAATTGGAG -3'
(R):5'- CCTGTAAGTAGGCCACTGAC -3'

Sequencing Primer
(F):5'- ACCCGCAATTGGAGTCGAG -3'
(R):5'- GTAAGTAGGCCACTGACCCCAC -3'
Posted On 2018-08-21