Incidental Mutation 'R5756:Fgf3'
ID 445046
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 043359-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5756 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144392349-144397085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144396688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 234 (S234N)
Ref Sequence ENSEMBL: ENSMUSP00000101518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105898] [ENSMUST00000155320] [ENSMUST00000208265]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000105898
AA Change: S234N

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101518
Gene: ENSMUSG00000031074
AA Change: S234N

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 benign
Transcript: ENSMUST00000155320
SMART Domains Protein: ENSMUSP00000115205
Gene: ENSMUSG00000031074

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
FGF 42 154 3.75e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208265
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,010,919 (GRCm39) noncoding transcript Het
Aqp6 A T 15: 99,500,623 (GRCm39) I183F probably damaging Het
Asap1 A T 15: 64,039,556 (GRCm39) M218K probably damaging Het
Astn2 G A 4: 66,037,425 (GRCm39) probably benign Het
Bmp5 A G 9: 75,683,649 (GRCm39) D92G probably benign Het
Cables1 A G 18: 12,074,410 (GRCm39) D511G probably damaging Het
Cacna1e A G 1: 154,347,383 (GRCm39) M928T probably benign Het
Calcoco1 T C 15: 102,628,086 (GRCm39) N16S probably benign Het
Catspere2 A T 1: 177,943,793 (GRCm39) Q710L unknown Het
Coro7 C T 16: 4,450,148 (GRCm39) R567Q probably damaging Het
Dgki C T 6: 36,913,993 (GRCm39) probably benign Het
Dusp11 T C 6: 85,929,339 (GRCm39) I147V probably damaging Het
Eif2ak4 T C 2: 118,293,221 (GRCm39) I1259T possibly damaging Het
Elapor2 A C 5: 9,512,995 (GRCm39) K996N probably damaging Het
Etfdh T C 3: 79,521,063 (GRCm39) I219V probably benign Het
Ffar4 C T 19: 38,102,406 (GRCm39) T347I probably damaging Het
Fnta A T 8: 26,499,735 (GRCm39) I155N possibly damaging Het
Gcm2 G A 13: 41,263,372 (GRCm39) T20M probably damaging Het
Ggt5 A T 10: 75,440,607 (GRCm39) M243L probably benign Het
Ggta1 T C 2: 35,292,395 (GRCm39) Y304C probably damaging Het
Gm5454 A G 13: 103,492,855 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hrc T C 7: 44,986,130 (GRCm39) V427A possibly damaging Het
Ibtk C G 9: 85,613,307 (GRCm39) V219L possibly damaging Het
Ift140 A G 17: 25,247,787 (GRCm39) H215R possibly damaging Het
Itln1 A G 1: 171,344,485 (GRCm39) probably benign Het
Kif13b T C 14: 64,973,754 (GRCm39) I368T probably damaging Het
Lars2 T C 9: 123,267,264 (GRCm39) Y529H probably damaging Het
Lrrc55 G A 2: 85,026,727 (GRCm39) T99I probably benign Het
Mycbp2 A T 14: 103,371,410 (GRCm39) I4156N probably damaging Het
Myo1c T G 11: 75,549,240 (GRCm39) M137R probably benign Het
Or51i1 T C 7: 103,670,889 (GRCm39) D212G probably damaging Het
Or6c8b A G 10: 128,882,095 (GRCm39) V279A probably benign Het
Or8b54 T A 9: 38,686,554 (GRCm39) M1K probably null Het
Pde7a A G 3: 19,319,009 (GRCm39) V12A probably benign Het
Phyhip T G 14: 70,704,532 (GRCm39) C250W probably damaging Het
Pisd G A 5: 32,895,842 (GRCm39) T412I probably damaging Het
Polr3c T C 3: 96,621,450 (GRCm39) N444S probably damaging Het
Sart1 T C 19: 5,430,497 (GRCm39) E750G probably damaging Het
Sh3rf3 T C 10: 58,940,204 (GRCm39) V675A probably damaging Het
Slc4a11 G T 2: 130,529,783 (GRCm39) D307E probably benign Het
Slc6a16 A T 7: 44,910,274 (GRCm39) I315F possibly damaging Het
Smarca5 A C 8: 81,437,233 (GRCm39) S708A probably benign Het
Sv2c T C 13: 96,122,475 (GRCm39) I434V probably benign Het
Tars3 A G 7: 65,325,724 (GRCm39) K433E probably benign Het
Tbx15 A T 3: 99,220,402 (GRCm39) I165F probably damaging Het
Tep1 C T 14: 51,074,836 (GRCm39) probably null Het
Tex15 G A 8: 34,065,861 (GRCm39) G1764S probably benign Het
Tnfrsf19 A G 14: 61,262,224 (GRCm39) L13P probably benign Het
Tnnt3 G A 7: 142,056,495 (GRCm39) probably null Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp24 T A 4: 106,219,680 (GRCm39) I597K probably damaging Het
Usp40 C T 1: 87,879,413 (GRCm39) R960Q possibly damaging Het
Vps53 A T 11: 75,983,156 (GRCm39) probably benign Het
Xylt1 C T 7: 117,249,927 (GRCm39) T699I probably damaging Het
Zfp81 A C 17: 33,553,307 (GRCm39) Y502* probably null Het
Zfyve26 T A 12: 79,311,131 (GRCm39) H145L 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
R4428:Fgf3 UTSW 7 144,394,444 (GRCm39) missense probably damaging 1.00
R5184:Fgf3 UTSW 7 144,396,547 (GRCm39) missense probably damaging 1.00
R5677:Fgf3 UTSW 7 144,392,520 (GRCm39) nonsense probably null
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'- ACGTGTCGGTGAATGGCAAG -3'
(R):5'- GCACTTGCTCTTTGAAAGCTG -3'

Sequencing Primer
(F):5'- ACGCAGGGGCTTCAAGAC -3'
(R):5'- GTAAAAGGCATGCAAGTTCTTGGTC -3'
Posted On 2016-11-21