Incidental Mutation 'PIT4472001:Fgf5'
ID 555856
Institutional Source Beutler Lab
Gene Symbol Fgf5
Ensembl Gene ENSMUSG00000029337
Gene Name fibroblast growth factor 5
Synonyms Fgf-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # PIT4472001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 98402108-98424892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98409838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 129 (V129E)
Ref Sequence ENSEMBL: ENSMUSP00000031280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031280] [ENSMUST00000200059]
AlphaFold P15656
Predicted Effect probably damaging
Transcript: ENSMUST00000031280
AA Change: V129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031280
Gene: ENSMUSG00000029337
AA Change: V129E

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 34 72 N/A INTRINSIC
FGF 83 217 3.78e-77 SMART
low complexity region 231 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200059
SMART Domains Protein: ENSMUSP00000142420
Gene: ENSMUSG00000029337

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 34 72 N/A INTRINSIC
Pfam:FGF 85 120 5.6e-7 PFAM
Coding Region Coverage
  • 1x: 93.7%
  • 3x: 90.8%
  • 10x: 84.2%
  • 20x: 70.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted protein that is a member of a family of heparin-binding growth factors. The encoded protein regulates cell proliferation, particularly the growth of hair follicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mutations in this gene result in significantly longer pelage hair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C A 9: 99,502,613 (GRCm39) P258T probably damaging Het
Arvcf T C 16: 18,221,699 (GRCm39) V714A possibly damaging Het
Bcas3 A G 11: 85,422,726 (GRCm39) I532V probably damaging Het
Cbr1 T A 16: 93,406,692 (GRCm39) V136E probably damaging Het
Ccdc27 T C 4: 154,126,184 (GRCm39) M102V unknown Het
Ccr1 T C 9: 123,763,765 (GRCm39) Y255C probably damaging Het
Cd300e T A 11: 114,945,336 (GRCm39) I153F possibly damaging Het
Chd7 C T 4: 8,753,101 (GRCm39) L533F unknown Het
Cpvl A T 6: 53,873,464 (GRCm39) F424Y possibly damaging Het
Cxcl16 C T 11: 70,349,625 (GRCm39) G80R probably damaging Het
Cyp2g1 T C 7: 26,513,619 (GRCm39) V186A probably benign Het
Cyp4f15 T A 17: 32,921,798 (GRCm39) M490K probably damaging Het
D630045J12Rik A T 6: 38,155,774 (GRCm39) V1160D probably damaging Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Fbn1 T C 2: 125,148,421 (GRCm39) D2609G possibly damaging Het
Fhl5 C A 4: 25,211,194 (GRCm39) C166F probably damaging Het
Frem1 G A 4: 82,890,374 (GRCm39) T1035I probably benign Het
Gcnt2 G A 13: 41,071,413 (GRCm39) V19M probably benign Het
Gga1 C A 15: 78,777,836 (GRCm39) A595D probably damaging Het
Gpaa1 C T 15: 76,218,940 (GRCm39) T594I probably benign Het
Gskip C T 12: 105,651,121 (GRCm39) probably benign Het
Ighv1-72 A G 12: 115,721,620 (GRCm39) V112A probably damaging Het
Krt16 T A 11: 100,138,732 (GRCm39) T185S probably benign Het
Lama1 T C 17: 68,071,699 (GRCm39) V862A Het
Lats2 A C 14: 57,936,814 (GRCm39) Y558* probably null Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Mnx1 T C 5: 29,679,105 (GRCm39) E326G unknown Het
Mtmr10 A G 7: 63,983,106 (GRCm39) E471G probably benign Het
Or5p64 C T 7: 107,855,310 (GRCm39) V12M possibly damaging Het
Otog G A 7: 45,945,273 (GRCm39) V2177M probably damaging Het
Ovgp1 A G 3: 105,894,306 (GRCm39) E693G unknown Het
Pclo T C 5: 14,763,182 (GRCm39) M600T possibly damaging Het
Pdgfra T A 5: 75,340,907 (GRCm39) M622K probably damaging Het
Pdxdc1 A G 16: 13,663,209 (GRCm39) L428P probably damaging Het
Pfkfb4 T C 9: 108,828,222 (GRCm39) Y86H probably benign Het
Pik3cg A G 12: 32,254,983 (GRCm39) Y335H probably damaging Het
Podnl1 G A 8: 84,854,477 (GRCm39) V150M Het
Pou4f3 A G 18: 42,527,717 (GRCm39) M4V probably benign Het
Ppp1r13b G A 12: 111,799,074 (GRCm39) R864C probably damaging Het
R3hdm4 A G 10: 79,749,389 (GRCm39) probably null Het
Skil T A 3: 31,152,381 (GRCm39) V301D probably damaging Het
Sptb G A 12: 76,667,460 (GRCm39) T879M probably damaging Het
Strip1 G A 3: 107,535,486 (GRCm39) A79V probably benign Het
Tpgs2 G A 18: 25,301,652 (GRCm39) T5M possibly damaging Het
Trim34a T A 7: 103,897,155 (GRCm39) L73Q probably damaging Het
Trpv4 T A 5: 114,764,984 (GRCm39) T677S probably damaging Het
Vmn2r23 A G 6: 123,689,936 (GRCm39) T271A possibly damaging Het
Other mutations in Fgf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Fgf5 APN 5 98,423,175 (GRCm39) missense probably damaging 1.00
IGL02037:Fgf5 APN 5 98,409,831 (GRCm39) missense probably damaging 1.00
IGL02125:Fgf5 APN 5 98,402,391 (GRCm39) missense possibly damaging 0.55
IGL02926:Fgf5 APN 5 98,409,874 (GRCm39) missense probably damaging 0.99
porcupine UTSW 5 98,402,604 (GRCm39) missense probably damaging 1.00
splinter UTSW 5 98,409,846 (GRCm39) nonsense probably null
ANU22:Fgf5 UTSW 5 98,423,175 (GRCm39) missense probably damaging 1.00
R0090:Fgf5 UTSW 5 98,409,846 (GRCm39) nonsense probably null
R2146:Fgf5 UTSW 5 98,423,409 (GRCm39) makesense probably null
R5023:Fgf5 UTSW 5 98,409,874 (GRCm39) missense probably damaging 0.99
R6035:Fgf5 UTSW 5 98,423,385 (GRCm39) missense probably damaging 1.00
R6035:Fgf5 UTSW 5 98,423,385 (GRCm39) missense probably damaging 1.00
R8997:Fgf5 UTSW 5 98,423,411 (GRCm39) makesense probably null
R9766:Fgf5 UTSW 5 98,423,113 (GRCm39) missense possibly damaging 0.49
X0018:Fgf5 UTSW 5 98,402,295 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCATTCCGAGTGTACACGCATTG -3'
(R):5'- GCAAATGGTCTATCTTATCCACTC -3'

Sequencing Primer
(F):5'- CGAGTGTACACGCATTGTTAGCC -3'
(R):5'- CCACTCATTTCAAAAACAATCTCTTC -3'
Posted On 2019-06-07