Incidental Mutation 'R6289:Fgf22'
Institutional Source Beutler Lab
Gene Symbol Fgf22
Ensembl Gene ENSMUSG00000020327
Gene Namefibroblast growth factor 22
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6289 (G1)
Quality Score57.0073
Status Validated
Chromosomal Location79755076-79758596 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79755207 bp
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]
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

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: 81,560,706 V94A probably damaging Het
Ankrd36 T C 11: 5,628,837 S34P probably damaging Het
Arid3c G A 4: 41,724,285 probably benign Het
Atg16l1 C T 1: 87,756,215 R6C probably damaging Het
Bex6 A G 16: 32,186,712 I113V probably benign Het
Blk T C 14: 63,375,892 probably null Het
C1s1 A G 6: 124,531,176 F618S probably damaging Het
Casp8ap2 C T 4: 32,639,590 H215Y probably damaging Het
Casp9 T A 4: 141,807,185 V302E probably damaging Het
Ccl2 A C 11: 82,036,969 K80Q probably benign Het
Cit T G 5: 116,006,326 *2014E probably null Het
Dclk2 A T 3: 86,831,817 S292T probably benign Het
Ddx23 T C 15: 98,649,884 E463G probably benign Het
Dennd1b T C 1: 139,168,945 probably benign Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Fgf10 C A 13: 118,715,492 Q37K probably benign Het
Gabra1 A G 11: 42,155,019 I88T probably damaging Het
Grip2 A G 6: 91,778,871 I586T probably benign Het
Hist1h1b G T 13: 21,780,439 P39Q probably damaging Het
Hpse2 T A 19: 42,788,979 N583Y probably null Het
Katnal2 A G 18: 77,017,455 probably null Het
Keg1 T G 19: 12,714,573 C85G probably damaging Het
Kidins220 T A 12: 25,056,616 L1356H probably damaging Het
Lifr A G 15: 7,166,910 K192E probably benign Het
Mks1 T C 11: 87,859,659 probably null Het
Olfr1464-ps1 T C 19: 13,282,794 K88R possibly damaging Het
Rars C T 11: 35,826,067 M207I probably damaging Het
Rbm6 T C 9: 107,777,948 Y896C probably damaging Het
Scarf1 T A 11: 75,525,416 W472R possibly damaging Het
Sept8 A G 11: 53,534,478 N66S probably damaging Het
Smcr8 T C 11: 60,778,598 F191L probably damaging Het
Tdrd6 A G 17: 43,624,520 M1879T probably benign Het
Tlr3 C T 8: 45,396,929 R901Q probably benign Het
Trpc4ap T C 2: 155,663,707 T203A possibly damaging Het
Tubgcp5 A G 7: 55,795,923 S58G probably benign Het
Ubtd2 A G 11: 32,516,177 E132G probably damaging Het
Uggt2 T A 14: 119,041,602 E831V probably damaging Het
Umodl1 A G 17: 30,982,351 N418S probably benign Het
Vmn2r106 C T 17: 20,268,463 C558Y probably damaging Het
Wdhd1 A C 14: 47,258,496 I637S possibly damaging Het
Other mutations in Fgf22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Fgf22 APN 10 79756890 missense probably damaging 1.00
IGL01667:Fgf22 APN 10 79756754 missense probably damaging 0.96
IGL02213:Fgf22 APN 10 79756615 missense probably damaging 1.00
R1108:Fgf22 UTSW 10 79756583 missense probably damaging 1.00
R1650:Fgf22 UTSW 10 79755189 missense probably damaging 1.00
R2138:Fgf22 UTSW 10 79756601 missense probably damaging 1.00
R5549:Fgf22 UTSW 10 79756862 missense probably damaging 1.00
R6320:Fgf22 UTSW 10 79756996 utr 3 prime probably benign
R7363:Fgf22 UTSW 10 79756842 missense probably benign
RF017:Fgf22 UTSW 10 79756846 missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-08-21