Mutagenetix > Incidental Mutation

Incidental Mutation 'R6814:Fgf2'

533990

Institutional Source

Beutler Lab

Gene Symbol

Fgf2

Ensembl Gene

ENSMUSG00000037225

Gene Name

fibroblast growth factor 2

Synonyms

Fgfb, Fgf-2, bFGF

MMRRC Submission

044926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37402616-37464255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37458860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 85 (K85E)

Ref Sequence

ENSEMBL: ENSMUSP00000088742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038885] [ENSMUST00000052645] [ENSMUST00000091203] [ENSMUST00000099130] [ENSMUST00000108117] [ENSMUST00000108118] [ENSMUST00000108120] [ENSMUST00000200585] [ENSMUST00000138563] [ENSMUST00000141438] [ENSMUST00000146324] [ENSMUST00000149449]

AlphaFold

P15655

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038885
AA Change: K126E

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037694
Gene: ENSMUSG00000037225
AA Change: K126E

Domain	Start	End	E-Value	Type
FGF	25	151	2.08e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052645

SMART Domains

Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	131	1e-42	PDB
Pfam:NUDIX	139	270	2.7e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091203
AA Change: K85E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088742
Gene: ENSMUSG00000037225
AA Change: K85E

Domain	Start	End	E-Value	Type
FGF	3	109	3.67e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099130

SMART Domains

Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	131	1e-42	PDB
Pfam:NUDIX	139	269	7.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108117

SMART Domains

Protein: ENSMUSP00000103752
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	76	3e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000108118

SMART Domains

Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
Pfam:NUDIX	73	202	1.7e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108120
AA Change: K82E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103755
Gene: ENSMUSG00000037225
AA Change: K82E

Domain	Start	End	E-Value	Type
FGF	3	106	3.19e-34	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200585
AA Change: K127E

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143094
Gene: ENSMUSG00000037225
AA Change: K127E

Domain	Start	End	E-Value	Type
FGF	25	151	2.08e-65	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138563
AA Change: K127E

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122227
Gene: ENSMUSG00000037225
AA Change: K127E

Domain	Start	End	E-Value	Type
FGF	25	151	2.08e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141438

SMART Domains

Protein: ENSMUSP00000142588
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
PDB:3H95\|A	2	97	5e-55	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000146324

SMART Domains

Protein: ENSMUSP00000142653
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
Pfam:NUDIX	1	104	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149449

SMART Domains

Protein: ENSMUSP00000116572
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	131	3e-44	PDB
PDB:3H95\|A	132	191	6e-22	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000198158

Meta Mutation Damage Score

0.2759

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Aadacl4fm4	A	T	4: 144,397,216 (GRCm39)	L172*	probably null	Het
Abca7	G	A	10: 79,838,833 (GRCm39)	V669I	probably damaging	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Afap1l1	A	T	18: 61,866,812 (GRCm39)	V749E	probably benign	Het
Arfgef3	A	G	10: 18,470,767 (GRCm39)	L1666S	probably damaging	Het
Atp2b1	A	G	10: 98,858,877 (GRCm39)	N284D	possibly damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,220,509 (GRCm39)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Cit	G	A	5: 116,023,022 (GRCm39)	C283Y	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Cspg4	A	G	9: 56,797,624 (GRCm39)	I1363V	possibly damaging	Het
D2hgdh	C	A	1: 93,763,025 (GRCm39)	T270N	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,200,022 (GRCm39)	N186S	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Fam53a	T	C	5: 33,767,829 (GRCm39)	Y27C	probably benign	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nr1h4	T	C	10: 89,290,607 (GRCm39)	T474A	probably damaging	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Pigq	A	T	17: 26,150,630 (GRCm39)		probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Slc24a3	C	T	2: 145,458,630 (GRCm39)	Q537*	probably null	Het
Slc34a1	T	C	13: 24,006,372 (GRCm39)	I466T	possibly damaging	Het
Slc7a10	T	C	7: 34,894,689 (GRCm39)	V116A	probably damaging	Het
Taf15	T	A	11: 83,389,915 (GRCm39)	N228K	probably damaging	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp189	A	T	4: 49,529,026 (GRCm39)	N43I	probably damaging	Het
Zfp36l2	A	G	17: 84,493,521 (GRCm39)		probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp605	C	T	5: 110,275,311 (GRCm39)	P143L	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	Het

Other mutations in Fgf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03052:Fgf2	UTSW	3	37,403,161 (GRCm39)	missense	probably benign	0.06
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'- CCTGGTGTTATCCATTGGCAG -3'
(R):5'- CTCTACTGAGGTAATGGTTAAGTGTC -3'

Sequencing Primer
(F):5'- GTGTTATCCATTGGCAGAAATGTCAC -3'
(R):5'- TGAGTCAGCTCTTAGCAG -3'

Posted On

2018-09-12