Incidental Mutation 'R9144:Fgf20'
ID 694497
Institutional Source Beutler Lab
Gene Symbol Fgf20
Ensembl Gene ENSMUSG00000031603
Gene Name fibroblast growth factor 20
Synonyms
MMRRC Submission 068935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9144 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 40732206-40740060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40732958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 160 (D160G)
Ref Sequence ENSEMBL: ENSMUSP00000034014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]
AlphaFold Q9ESL9
Predicted Effect
SMART Domains Protein: ENSMUSP00000034014
Gene: ENSMUSG00000031603
AA Change: D160G

DomainStartEndE-ValueType
low complexity region 35 53 N/A INTRINSIC
FGF 63 194 3.3e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118639
AA Change: D106G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112756
Gene: ENSMUSG00000031603
AA Change: D106G

DomainStartEndE-ValueType
FGF 6 140 2.08e-47 SMART
Meta Mutation Damage Score 0.0787 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 C T 9: 44,192,708 (GRCm39) V176M possibly damaging Het
Acp5 T C 9: 22,041,242 (GRCm39) T62A probably benign Het
Alad A T 4: 62,430,257 (GRCm39) D88E probably damaging Het
Arap1 T C 7: 101,047,602 (GRCm39) I803T probably damaging Het
Bckdhb C A 9: 83,894,662 (GRCm39) T312K probably damaging Het
Cfap206 A G 4: 34,722,667 (GRCm39) V138A possibly damaging Het
Cntnap5b A G 1: 99,978,512 (GRCm39) Y176C probably damaging Het
Creld1 A T 6: 113,461,468 (GRCm39) T63S probably damaging Het
Dsc1 G A 18: 20,218,639 (GRCm39) T878I possibly damaging Het
Ehbp1 C T 11: 22,018,463 (GRCm39) R873H probably damaging Het
Eml2 T C 7: 18,935,564 (GRCm39) V466A possibly damaging Het
Ercc5 T A 1: 44,213,511 (GRCm39) Y836N probably damaging Het
Fgfr4 A T 13: 55,315,837 (GRCm39) probably null Het
Fpr1 A T 17: 18,097,626 (GRCm39) V121D probably damaging Het
Gabbr1 A G 17: 37,362,049 (GRCm39) K218E probably benign Het
Galnt12 T C 4: 47,113,822 (GRCm39) L372P Het
Gldc A G 19: 30,114,593 (GRCm39) F439S Het
Gm6465 A G 5: 11,896,726 (GRCm39) T32A possibly damaging Het
Has2 T C 15: 56,545,588 (GRCm39) R5G probably benign Het
Hexb T C 13: 97,317,599 (GRCm39) Y366C probably damaging Het
Ier2 C T 8: 85,389,266 (GRCm39) V39I probably benign Het
Ifi214 A G 1: 173,355,434 (GRCm39) S125P possibly damaging Het
Kcnk15 A G 2: 163,700,451 (GRCm39) D230G probably benign Het
Kdm3b A T 18: 34,927,558 (GRCm39) Y140F probably benign Het
Klk1b11 T C 7: 43,427,055 (GRCm39) V140A probably damaging Het
Klra5 C T 6: 129,886,911 (GRCm39) C39Y probably benign Het
Ltbp2 T C 12: 84,856,426 (GRCm39) I699M probably damaging Het
Mak C A 13: 41,201,594 (GRCm39) E256* probably null Het
Mark3 C A 12: 111,606,376 (GRCm39) N496K probably benign Het
Mex3c A G 18: 73,723,397 (GRCm39) T497A probably benign Het
Myt1 A G 2: 181,467,805 (GRCm39) I1160V possibly damaging Het
Notch1 T C 2: 26,349,587 (GRCm39) T2518A probably benign Het
Nsg1 A G 5: 38,302,088 (GRCm39) Y108H probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Obscn A G 11: 58,960,103 (GRCm39) S3255P possibly damaging Het
Or5w18 A G 2: 87,633,482 (GRCm39) T246A probably benign Het
Plxna4 A G 6: 32,162,496 (GRCm39) V1339A possibly damaging Het
Ppp2r5e C T 12: 75,506,468 (GRCm39) R433H possibly damaging Het
Pwwp2a T A 11: 43,596,721 (GRCm39) C629S probably benign Het
Rasl10a T A 11: 5,008,473 (GRCm39) S56R probably benign Het
Rhob A G 12: 8,549,124 (GRCm39) V170A probably damaging Het
Rlf A T 4: 121,003,900 (GRCm39) N1803K probably benign Het
Rmdn3 G T 2: 118,969,847 (GRCm39) Q405K probably benign Het
Rpap3 G A 15: 97,589,184 (GRCm39) T250M possibly damaging Het
Rraga T C 4: 86,494,796 (GRCm39) I214T probably damaging Het
Rundc3a A T 11: 102,290,862 (GRCm39) Q315L probably benign Het
Sh3bgr T A 16: 96,001,931 (GRCm39) S10T probably benign Het
Skint6 A T 4: 112,985,102 (GRCm39) S421R possibly damaging Het
Spag16 G C 1: 70,420,459 (GRCm39) L482F probably damaging Het
Sppl2a A G 2: 126,769,743 (GRCm39) S38P probably benign Het
Tex14 T A 11: 87,413,423 (GRCm39) probably null Het
Tmem181a G A 17: 6,346,048 (GRCm39) V181M possibly damaging Het
Traf3 T A 12: 111,228,294 (GRCm39) S502T probably benign Het
Trav9n-4 T G 14: 53,532,236 (GRCm39) V30G probably damaging Het
Trpm2 C A 10: 77,765,122 (GRCm39) V960L probably benign Het
Unc13b T A 4: 43,173,649 (GRCm39) D1492E unknown Het
Usp44 A G 10: 93,681,645 (GRCm39) T32A probably benign Het
Vmn1r38 A G 6: 66,753,612 (GRCm39) M168T probably benign Het
Vmn1r9 A G 6: 57,048,788 (GRCm39) I288V probably benign Het
Zfhx3 A G 8: 109,676,794 (GRCm39) T2615A possibly damaging Het
Other mutations in Fgf20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:Fgf20 APN 8 40,732,828 (GRCm39) missense probably damaging 0.99
IGL03365:Fgf20 APN 8 40,732,932 (GRCm39) missense possibly damaging 0.95
mermaid UTSW 8 40,734,189 (GRCm39) missense probably damaging 0.98
LCD18:Fgf20 UTSW 8 40,745,359 (GRCm39) intron probably benign
R1893:Fgf20 UTSW 8 40,732,844 (GRCm39) missense possibly damaging 0.49
R4067:Fgf20 UTSW 8 40,732,896 (GRCm39) missense probably benign 0.00
R4613:Fgf20 UTSW 8 40,739,652 (GRCm39) missense probably benign
R6166:Fgf20 UTSW 8 40,732,881 (GRCm39) missense probably damaging 0.98
R6280:Fgf20 UTSW 8 40,734,153 (GRCm39) nonsense probably null
R6869:Fgf20 UTSW 8 40,734,189 (GRCm39) missense probably damaging 0.98
R7561:Fgf20 UTSW 8 40,732,975 (GRCm39) missense possibly damaging 0.92
R7739:Fgf20 UTSW 8 40,732,937 (GRCm39) missense probably damaging 1.00
R8191:Fgf20 UTSW 8 40,761,361 (GRCm39) start gained probably benign
R9261:Fgf20 UTSW 8 40,739,951 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ACAATGGCTCTAGATTCATCAAGTG -3'
(R):5'- GGGAGAAAATTTCACATGCTGTATG -3'

Sequencing Primer
(F):5'- GGCTCTAGATTCATCAAGTGTACATC -3'
(R):5'- TTTCACATGCTGTATGAACAAAATC -3'
Posted On 2022-01-20