Incidental Mutation 'IGL03052:Fgf2'
ID 392167
Institutional Source Beutler Lab
Gene Symbol Fgf2
Ensembl Gene ENSMUSG00000037225
Gene Name fibroblast growth factor 2
Synonyms Fgfb, Fgf-2, bFGF
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03052 (G1)
Quality Score 149
Status Validated
Chromosome 3
Chromosomal Location 37402616-37464255 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37403161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 55 (S55G)
Ref Sequence ENSEMBL: ENSMUSP00000143094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038885] [ENSMUST00000138563] [ENSMUST00000200585]
AlphaFold P15655
Predicted Effect probably benign
Transcript: ENSMUST00000038885
AA Change: S55G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000037694
Gene: ENSMUSG00000037225
AA Change: S55G

DomainStartEndE-ValueType
FGF 25 151 2.08e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138563
AA Change: S55G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122227
Gene: ENSMUSG00000037225
AA Change: S55G

DomainStartEndE-ValueType
FGF 25 151 2.08e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153785
Predicted Effect probably benign
Transcript: ENSMUST00000200585
AA Change: S55G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143094
Gene: ENSMUSG00000037225
AA Change: S55G

DomainStartEndE-ValueType
FGF 25 151 2.08e-65 SMART
Meta Mutation Damage Score 0.1268 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (53/53)
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 bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for different null mutations are viable and have some or all of these traits: hypotension, thrombocytosis, impaired wound healing, and reductions in cortical neuronal density, vascular smooth muscle contractility and trabecular bone formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T C 4: 155,987,815 (GRCm39) F517S probably damaging Het
Afap1l1 A G 18: 61,881,894 (GRCm39) V267A probably benign Het
Asap1 A G 15: 64,025,683 (GRCm39) probably benign Het
Bcl6 T C 16: 23,793,788 (GRCm39) probably benign Het
Ccdc73 C A 2: 104,782,281 (GRCm39) H212Q possibly damaging Het
Cct5 A T 15: 31,597,633 (GRCm39) H85Q probably damaging Het
Cfap69 A C 5: 5,639,206 (GRCm39) L238R probably damaging Het
Chl1 A T 6: 103,668,628 (GRCm39) T470S probably benign Het
Cnga4 T C 7: 105,053,932 (GRCm39) S12P probably benign Het
Cyp2c29 C T 19: 39,275,662 (GRCm39) T34M possibly damaging Het
Cyp2c67 T C 19: 39,637,329 (GRCm39) D49G possibly damaging Het
Dab2ip A G 2: 35,533,909 (GRCm39) Q45R probably benign Het
Ddhd1 A G 14: 45,858,240 (GRCm39) V164A probably damaging Het
Dnaaf8 A T 16: 4,795,358 (GRCm39) noncoding transcript Het
Dnah7c A G 1: 46,671,309 (GRCm39) Y1566C probably damaging Het
Dnase1l2 T C 17: 24,659,968 (GRCm39) probably benign Het
Dock2 G T 11: 34,182,853 (GRCm39) N1593K probably benign Het
Dpp6 G T 5: 27,914,506 (GRCm39) M530I probably benign Het
Epm2a T C 10: 11,332,974 (GRCm39) V269A possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Frem3 C T 8: 81,341,159 (GRCm39) P1151S probably damaging Het
Gm15737 T C 6: 92,846,481 (GRCm39) probably benign Het
Gpi-ps T A 8: 5,689,816 (GRCm39) noncoding transcript Het
Gvin-ps6 T C 7: 106,022,902 (GRCm39) noncoding transcript Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Larp7-ps A G 4: 92,079,287 (GRCm39) L178P probably benign Het
Macf1 T C 4: 123,281,188 (GRCm39) I3770V probably damaging Het
Mapk15 G T 15: 75,865,731 (GRCm39) R8L probably benign Het
Mecom C T 3: 30,015,112 (GRCm39) probably benign Het
Mknk2 C T 10: 80,505,496 (GRCm39) R154H probably benign Het
Mrgprb3 A T 7: 48,293,341 (GRCm39) V70E possibly damaging Het
Mtdh A G 15: 34,140,876 (GRCm39) K570E possibly damaging Het
Myo5c G T 9: 75,159,798 (GRCm39) probably benign Het
Myom2 T C 8: 15,173,442 (GRCm39) probably benign Het
Or52m2 C T 7: 102,263,656 (GRCm39) R180Q probably benign Het
Or5b124 T C 19: 13,611,090 (GRCm39) I205T probably benign Het
Or7g25 A T 9: 19,159,938 (GRCm39) Y252* probably null Het
Pcca A T 14: 123,124,513 (GRCm39) M695L probably benign Het
Pcdha2 A T 18: 37,074,670 (GRCm39) D767V probably damaging Het
Plekhs1 G A 19: 56,459,189 (GRCm39) D16N probably benign Het
Prr11 T C 11: 86,994,478 (GRCm39) N56S possibly damaging Het
Rxfp2 A T 5: 149,966,645 (GRCm39) probably benign Het
Sacs G T 14: 61,445,307 (GRCm39) G2451V probably damaging Het
Scarb1 G A 5: 125,371,163 (GRCm39) A4V probably damaging Het
Scart2 G A 7: 139,828,827 (GRCm39) C162Y probably damaging Het
Sik3 C A 9: 46,109,447 (GRCm39) T475K probably damaging Het
Slco1b2 A T 6: 141,594,311 (GRCm39) I59L probably benign Het
Sspo G A 6: 48,437,387 (GRCm39) G1382R probably damaging Het
Stx16 C A 2: 173,934,231 (GRCm39) P145T probably benign Het
Tnrc18 G A 5: 142,760,974 (GRCm39) A674V unknown Het
Uqcrq A G 11: 53,321,476 (GRCm39) V14A possibly damaging Het
Vmn2r79 A T 7: 86,652,799 (GRCm39) E497V probably benign Het
Vps8 T A 16: 21,267,115 (GRCm39) I166K probably damaging Het
Vwa8 A G 14: 79,302,361 (GRCm39) D1010G probably benign Het
Wnk1 T A 6: 119,921,760 (GRCm39) probably benign Het
Zfand3 T A 17: 30,279,798 (GRCm39) M29K probably benign Het
Other mutations in Fgf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6814:Fgf2 UTSW 3 37,458,860 (GRCm39) missense probably damaging 1.00
R6872:Fgf2 UTSW 3 37,458,860 (GRCm39) missense probably damaging 1.00
R8970:Fgf2 UTSW 3 37,458,767 (GRCm39) missense probably benign 0.05
X0065:Fgf2 UTSW 3 37,403,036 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TCTCTCGGCTTCAGGAAGAGTC -3'
(R):5'- ATCCAGGATGCAACAGGTG -3'

Sequencing Primer
(F):5'- AAGAGTCCGGCTGCACTG -3'
(R):5'- ATGCAACAGGTGGCCTCTGAG -3'
Posted On 2016-06-09