Incidental Mutation 'R5549:Fgf22'
ID 435047
Institutional Source Beutler Lab
Gene Symbol Fgf22
Ensembl Gene ENSMUSG00000020327
Gene Name fibroblast growth factor 22
Synonyms 2210414E06Rik
MMRRC Submission 043106-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5549 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79590887-79593629 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 79592696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 130 (M130I)
Ref Sequence ENSEMBL: ENSMUSP00000151743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020577] [ENSMUST00000047203] [ENSMUST00000219228] [ENSMUST00000219981]
AlphaFold Q9ESS2
Predicted Effect unknown
Transcript: ENSMUST00000020577
AA Change: C151F
SMART Domains Protein: ENSMUSP00000020577
Gene: ENSMUSG00000020327
AA Change: C151F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FGF 30 159 1.73e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047203
SMART Domains Protein: ENSMUSP00000039486
Gene: ENSMUSG00000035890

DomainStartEndE-ValueType
Pfam:zinc_ribbon_9 9 40 5e-11 PFAM
low complexity region 109 121 N/A INTRINSIC
low complexity region 124 139 N/A INTRINSIC
RING 231 271 5.68e-9 SMART
low complexity region 293 313 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219189
Predicted Effect probably damaging
Transcript: ENSMUST00000219228
AA Change: M130I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219981
AA Change: V123F

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,993 (GRCm39) E324G possibly damaging Het
Acad8 C T 9: 26,896,847 (GRCm39) R204Q probably damaging Het
Adgrg7 T G 16: 56,570,790 (GRCm39) T413P probably damaging Het
Ankrd11 A G 8: 123,617,117 (GRCm39) I2224T probably benign Het
Arhgap23 A G 11: 97,357,394 (GRCm39) D964G probably damaging Het
Atf6b A G 17: 34,870,657 (GRCm39) D367G probably damaging Het
Axdnd1 A G 1: 156,226,104 (GRCm39) L131P probably damaging Het
Bmp8b T C 4: 123,018,278 (GRCm39) V383A probably damaging Het
C5ar2 A G 7: 15,970,868 (GRCm39) V353A probably damaging Het
Ccr5 C A 9: 123,925,408 (GRCm39) A337E probably benign Het
Cftr G A 6: 18,227,953 (GRCm39) V382I probably benign Het
Csmd3 G C 15: 48,048,753 (GRCm39) S446C probably damaging Het
Cyp2d12 A G 15: 82,440,498 (GRCm39) T96A probably benign Het
Diaph3 T G 14: 87,216,106 (GRCm39) I465L probably benign Het
Fabp3 A G 4: 130,209,018 (GRCm39) *134W probably null Het
Flnc G A 6: 29,453,690 (GRCm39) V1792M probably damaging Het
Grik3 G A 4: 125,579,838 (GRCm39) A528T possibly damaging Het
Hecw2 G A 1: 53,964,850 (GRCm39) R659W possibly damaging Het
Hmbs C T 9: 44,250,774 (GRCm39) probably null Het
Ift122 T G 6: 115,868,983 (GRCm39) L490R probably damaging Het
Igkv4-63 T C 6: 69,355,116 (GRCm39) H55R probably damaging Het
Itga4 A T 2: 79,086,611 (GRCm39) N96I probably damaging Het
Kcna7 A T 7: 45,056,063 (GRCm39) H93L probably damaging Het
Klhdc7b A G 15: 89,271,562 (GRCm39) I815V probably benign Het
Lcmt1 G A 7: 123,027,330 (GRCm39) E298K probably damaging Het
Ly6g6f A G 17: 35,302,333 (GRCm39) V68A possibly damaging Het
Map3k8 C T 18: 4,340,762 (GRCm39) C184Y probably damaging Het
Mcemp1 A G 8: 3,718,340 (GRCm39) T183A possibly damaging Het
Mobp T G 9: 119,996,876 (GRCm39) S2R probably damaging Het
Mprip A G 11: 59,651,644 (GRCm39) S1783G probably benign Het
Mterf3 C A 13: 67,076,321 (GRCm39) A129S probably benign Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nr2c1 A G 10: 94,003,558 (GRCm39) T239A probably benign Het
Odr4 A G 1: 150,247,909 (GRCm39) S325P possibly damaging Het
Oplah G A 15: 76,182,466 (GRCm39) A963V probably damaging Het
Or13a26 A G 7: 140,284,712 (GRCm39) probably null Het
Parp14 C T 16: 35,661,505 (GRCm39) S1481N probably benign Het
Prxl2a T C 14: 40,726,013 (GRCm39) K44E possibly damaging Het
Rictor C T 15: 6,816,391 (GRCm39) T1221M probably damaging Het
Rpe G A 1: 66,755,163 (GRCm39) D182N probably damaging Het
Slc24a3 C A 2: 145,448,784 (GRCm39) P443T probably damaging Het
Slc25a47 T C 12: 108,822,143 (GRCm39) *311Q probably null Het
Sox2 C G 3: 34,705,142 (GRCm39) A193G probably benign Het
Svep1 T C 4: 58,057,954 (GRCm39) S3284G probably benign Het
Zfp369 A T 13: 65,445,194 (GRCm39) H779L probably damaging Het
Zfp513 A T 5: 31,357,947 (GRCm39) L144Q possibly damaging Het
Zfp526 T C 7: 24,925,109 (GRCm39) F456S possibly damaging Het
Zfp791 C T 8: 85,836,835 (GRCm39) G343D probably damaging Het
Zfp941 A C 7: 140,388,021 (GRCm39) I664S possibly damaging Het
Zkscan3 A G 13: 21,578,233 (GRCm39) V189A probably 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
R6289:Fgf22 UTSW 10 79,591,041 (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'- GTACTCAGGCTTCTATGTGGCC -3'
(R):5'- CTTGGTTGTTCAGCTCCGGATC -3'

Sequencing Primer
(F):5'- CTATGTGGCCATGAATCGCAG -3'
(R):5'- GTTCAGCTCCGGATCTTCCAGG -3'
Posted On 2016-10-24