Incidental Mutation 'R4067:Fgf20'
ID 316171
Institutional Source Beutler Lab
Gene Symbol Fgf20
Ensembl Gene ENSMUSG00000031603
Gene Name fibroblast growth factor 20
MMRRC Submission 040853-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4067 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 40279166-40308331 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40279855 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 181 (S181T)
Ref Sequence ENSEMBL: ENSMUSP00000034014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]
AlphaFold Q9ESL9
Predicted Effect probably benign
Transcript: ENSMUST00000034014
AA Change: S181T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034014
Gene: ENSMUSG00000031603
AA Change: S181T

low complexity region 35 53 N/A INTRINSIC
FGF 63 194 3.3e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118639
AA Change: S127T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112756
Gene: ENSMUSG00000031603
AA Change: S127T

FGF 6 140 2.08e-47 SMART
Meta Mutation Damage Score 0.0949 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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 family. The fibroblast growth factors 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. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit imapired coclear lateral compartment differentiation and deafness without loss of vestibular function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T A 1: 151,893,399 (GRCm38) T121S possibly damaging Het
4930503E14Rik T C 14: 44,169,184 (GRCm38) E136G probably damaging Het
Adgrg4 A G X: 56,959,960 (GRCm38) N2527S probably damaging Het
Ak1 G A 2: 32,629,581 (GRCm38) S7N probably benign Het
Aktip A C 8: 91,125,838 (GRCm38) I230R possibly damaging Het
Alms1 A G 6: 85,621,289 (GRCm38) I1032M probably damaging Het
Asb4 T A 6: 5,423,651 (GRCm38) V266E probably damaging Het
Bace1 G A 9: 45,854,664 (GRCm38) V130M probably damaging Het
Bglap A T 3: 88,384,437 (GRCm38) probably benign Het
Brpf3 T C 17: 28,821,259 (GRCm38) S885P probably benign Het
Chd9 A T 8: 91,023,574 (GRCm38) I1742F possibly damaging Het
Col9a2 T A 4: 121,052,389 (GRCm38) I415N probably damaging Het
Cybc1 A T 11: 121,224,702 (GRCm38) probably null Het
Dnajc7 T C 11: 100,601,781 (GRCm38) Y38C probably benign Het
Dync2i2 A G 2: 30,032,808 (GRCm38) L309P probably benign Het
Enam A G 5: 88,503,377 (GRCm38) Y840C probably damaging Het
Etnppl T A 3: 130,631,793 (GRCm38) C416S probably damaging Het
Fut8 T A 12: 77,464,061 (GRCm38) Y421N probably damaging Het
Gcn1 T G 5: 115,599,088 (GRCm38) L1295R probably damaging Het
Gm11437 A G 11: 84,164,511 (GRCm38) V93A probably benign Het
Gm9989 T C 3: 81,922,242 (GRCm38) noncoding transcript Het
Gsdmc4 A T 15: 63,893,887 (GRCm38) probably null Het
Gvin3 T A 7: 106,599,565 (GRCm38) noncoding transcript Het
Ighv10-1 A T 12: 114,479,023 (GRCm38) M114K probably benign Het
Il22b T C 10: 118,290,210 (GRCm38) I161V probably damaging Het
Itfg2 T A 6: 128,410,450 (GRCm38) probably benign Het
Kirrel1 G A 3: 87,088,467 (GRCm38) Q387* probably null Het
Klk1 C T 7: 44,227,544 (GRCm38) R24* probably null Het
Klra7 T C 6: 130,231,649 (GRCm38) probably null Het
Ltn1 T C 16: 87,416,230 (GRCm38) Y481C possibly damaging Het
Man1c1 G C 4: 134,703,438 (GRCm38) P11R probably damaging Het
Mrps2 A G 2: 28,469,770 (GRCm38) N213S probably benign Het
Muc4 A T 16: 32,751,051 (GRCm38) I310F possibly damaging Het
Ntrk3 T A 7: 78,517,437 (GRCm38) Y102F probably damaging Het
Or8k24 A T 2: 86,386,087 (GRCm38) C110* probably null Het
Otof C T 5: 30,399,291 (GRCm38) G282D probably damaging Het
Pcdhb2 A T 18: 37,297,314 (GRCm38) probably null Het
Pign A T 1: 105,587,978 (GRCm38) probably null Het
Plekha6 G A 1: 133,294,678 (GRCm38) E1001K probably benign Het
Plxna2 C T 1: 194,749,317 (GRCm38) S538F probably damaging Het
Ppm1d A G 11: 85,345,852 (GRCm38) T486A probably benign Het
Pudp A G 18: 50,568,258 (GRCm38) F135L probably benign Het
Rd3l T G 12: 111,979,511 (GRCm38) N178T probably benign Het
Rel A C 11: 23,753,215 (GRCm38) probably null Het
Sf3a1 T A 11: 4,167,824 (GRCm38) F195L probably damaging Het
Slc30a1 G C 1: 191,907,289 (GRCm38) A95P probably damaging Het
Slc47a2 T C 11: 61,303,947 (GRCm38) T469A probably benign Het
Slc4a10 A T 2: 62,046,645 (GRCm38) M1L probably benign Het
Slc8a1 T A 17: 81,648,274 (GRCm38) D445V probably damaging Het
Slc9a7 C T X: 20,205,554 (GRCm38) G113R probably damaging Het
Spata31e5 T A 1: 28,777,631 (GRCm38) D440V probably damaging Het
Spic T C 10: 88,675,683 (GRCm38) H237R possibly damaging Het
Stk26 A G X: 50,889,033 (GRCm38) E317G probably benign Het
Tex10 A T 4: 48,459,355 (GRCm38) Y506* probably null Het
Trhde T A 10: 114,444,680 (GRCm38) R848* probably null Het
Trpc5 T A X: 144,419,598 (GRCm38) R545* probably null Het
Usp24 C T 4: 106,359,089 (GRCm38) T379M possibly damaging Het
Zfp783 A T 6: 47,945,565 (GRCm38) noncoding transcript Het
Other mutations in Fgf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:Fgf20 APN 8 40,279,787 (GRCm38) missense probably damaging 0.99
IGL03365:Fgf20 APN 8 40,279,891 (GRCm38) missense possibly damaging 0.95
mermaid UTSW 8 40,281,148 (GRCm38) missense probably damaging 0.98
LCD18:Fgf20 UTSW 8 40,292,318 (GRCm38) intron probably benign
R1893:Fgf20 UTSW 8 40,279,803 (GRCm38) missense possibly damaging 0.49
R4613:Fgf20 UTSW 8 40,286,611 (GRCm38) missense probably benign
R6166:Fgf20 UTSW 8 40,279,840 (GRCm38) missense probably damaging 0.98
R6280:Fgf20 UTSW 8 40,281,112 (GRCm38) nonsense probably null
R6869:Fgf20 UTSW 8 40,281,148 (GRCm38) missense probably damaging 0.98
R7561:Fgf20 UTSW 8 40,279,934 (GRCm38) missense possibly damaging 0.92
R7739:Fgf20 UTSW 8 40,279,896 (GRCm38) missense probably damaging 1.00
R8191:Fgf20 UTSW 8 40,308,320 (GRCm38) start gained probably benign
R9144:Fgf20 UTSW 8 40,279,917 (GRCm38) missense
R9261:Fgf20 UTSW 8 40,286,910 (GRCm38) intron probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-15