Incidental Mutation 'R4428:Fgf3'
ID 328277
Institutional Source Beutler Lab
Gene Symbol Fgf3
Ensembl Gene ENSMUSG00000031074
Gene Name fibroblast growth factor 3
Synonyms Int-2, Int-P, Fgf-3
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144392349-144397085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144394444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000101518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105898] [ENSMUST00000155320]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000105898
AA Change: V86A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101518
Gene: ENSMUSG00000031074
AA Change: V86A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
FGF 42 182 1.13e-66 SMART
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000155320
AA Change: V86A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115205
Gene: ENSMUSG00000031074
AA Change: V86A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
FGF 42 154 3.75e-40 SMART
Meta Mutation Damage Score 0.6412 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
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. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene have short, thickened and curved tails. Otic vesicles are somewhat smaller than normal. Mice with some alleles apparently display more severe phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Cmpk1 T C 4: 114,820,559 (GRCm39) E180G probably benign Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging Het
Other mutations in Fgf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Fgf3 APN 7 144,394,521 (GRCm39) splice site probably benign
IGL02679:Fgf3 APN 7 144,394,487 (GRCm39) missense probably damaging 1.00
Porkchop UTSW 7 144,394,444 (GRCm39) missense probably damaging 1.00
R0471:Fgf3 UTSW 7 144,396,547 (GRCm39) missense probably damaging 1.00
R1351:Fgf3 UTSW 7 144,394,517 (GRCm39) splice site probably benign
R5184:Fgf3 UTSW 7 144,396,547 (GRCm39) missense probably damaging 1.00
R5677:Fgf3 UTSW 7 144,392,520 (GRCm39) nonsense probably null
R5756:Fgf3 UTSW 7 144,396,688 (GRCm39) missense probably benign 0.44
R7267:Fgf3 UTSW 7 144,392,569 (GRCm39) missense probably damaging 1.00
R9480:Fgf3 UTSW 7 144,396,619 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- ATTAAGGTCTCCCGCACAGTG -3'
(R):5'- TTGAGTCTGGCATGACCTG -3'

Sequencing Primer
(F):5'- GCACAGTGGCAGGATGC -3'
(R):5'- ACCTGGGGGCTAAGAAGTCTATCTC -3'
Posted On 2015-07-07