Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Fbp2'

34423

Institutional Source

Beutler Lab

Gene Symbol

Fbp2

Ensembl Gene

ENSMUSG00000021456

Gene Name

fructose bisphosphatase 2

Synonyms

FBPase muscle, Fbp-1

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62984698-63006214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63001862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 118 (F118I)

Ref Sequence

ENSEMBL: ENSMUSP00000021907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021907]

AlphaFold

P70695

Predicted Effect

probably damaging
Transcript: ENSMUST00000021907
AA Change: F118I

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

SMART Domains

Protein: ENSMUSP00000021907
Gene: ENSMUSG00000021456
AA Change: F118I

Domain	Start	End	E-Value	Type
Pfam:FBPase	12	334	1.1e-138	PFAM
Pfam:Inositol_P	31	127	5.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222000

Meta Mutation Damage Score

0.2340

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]
PHENOTYPE: This locus controls electrophoretic variation of fructose bisphosphatase isozymes in muscle. Isozymes of kidney, liver and testis are not affected. P, SEA, SWR and Peru-Coppock have a slow migrating band; SM, C3H/He, C57BL/Go, CE and DBA/2 have a fast migrating band. Heterozygotes are intermediate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,035,698 (GRCm39)	L641M	probably damaging	Het
Abca9	A	C	11: 110,035,697 (GRCm39)	L641R	probably damaging	Het
Abhd18	A	G	3: 40,888,288 (GRCm39)	I377M	probably benign	Het
Arhgef17	C	A	7: 100,530,561 (GRCm39)	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,839,516 (GRCm39)	G138A	probably damaging	Het
C4b	A	G	17: 34,957,830 (GRCm39)	L617P	probably damaging	Het
Ccdc25	T	A	14: 66,091,561 (GRCm39)	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,180,907 (GRCm39)	D101G	probably benign	Het
Cdon	A	G	9: 35,400,523 (GRCm39)	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,183 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Crlf3	A	G	11: 79,948,728 (GRCm39)	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,060,699 (GRCm39)	N78K	probably damaging	Het
Cul1	A	G	6: 47,479,349 (GRCm39)		probably benign	Het
D430041D05Rik	T	G	2: 104,079,502 (GRCm39)	T1194P	probably damaging	Het
Fbxw14	A	T	9: 109,116,660 (GRCm39)	Y16*	probably null	Het
Fgd3	T	G	13: 49,449,901 (GRCm39)	D116A	possibly damaging	Het
Gm7168	C	T	17: 14,170,121 (GRCm39)	T496I	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Klhl5	T	A	5: 65,298,631 (GRCm39)	S137T	probably benign	Het
Knl1	T	A	2: 118,906,724 (GRCm39)	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,662,585 (GRCm39)	N463K	probably damaging	Het
Lpl	A	G	8: 69,345,356 (GRCm39)	H120R	probably damaging	Het
Man1a2	A	T	3: 100,499,199 (GRCm39)	S412T	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,738,170 (GRCm39)	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,781,951 (GRCm39)	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,091,558 (GRCm39)		probably benign	Het
Nutf2	A	G	8: 106,605,441 (GRCm39)	D92G	probably damaging	Het
Obscn	A	C	11: 58,918,292 (GRCm39)	V6260G	probably damaging	Het
Or10a2	T	C	7: 106,673,487 (GRCm39)	F151L	probably benign	Het
Or2ak7	G	A	11: 58,575,301 (GRCm39)	V201M	probably benign	Het
Plce1	T	C	19: 38,769,228 (GRCm39)		probably null	Het
Pmpca	C	A	2: 26,285,519 (GRCm39)	D498E	probably benign	Het
Pnpla7	G	T	2: 24,887,239 (GRCm39)	E28*	probably null	Het
Polg	C	A	7: 79,111,632 (GRCm39)	W206C	probably damaging	Het
Ptprt	C	T	2: 161,769,711 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,281,209 (GRCm39)	D367G	probably damaging	Het
Spata31	T	C	13: 65,069,912 (GRCm39)	Y687H	probably damaging	Het
Sybu	T	A	15: 44,536,389 (GRCm39)	T646S	probably benign	Het
Thbs1	A	T	2: 117,954,395 (GRCm39)		probably null	Het
Tie1	A	G	4: 118,346,898 (GRCm39)	V2A	possibly damaging	Het
Tma16	A	T	8: 66,929,457 (GRCm39)	I179K	possibly damaging	Het
Tns3	G	A	11: 8,385,856 (GRCm39)	Q1381*	probably null	Het
Trank1	A	G	9: 111,172,263 (GRCm39)	D84G	probably damaging	Het
Ttc3	A	T	16: 94,223,106 (GRCm39)	H197L	possibly damaging	Het
Urb1	A	G	16: 90,576,028 (GRCm39)	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,933,003 (GRCm39)	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,012,209 (GRCm39)	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,791,053 (GRCm39)	I82L	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het
Zfp608	A	T	18: 55,031,888 (GRCm39)	I684N	probably benign	Het

Other mutations in Fbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Fbp2	APN	13	62,989,698 (GRCm39)	missense	possibly damaging	0.90
IGL01284:Fbp2	APN	13	62,988,099 (GRCm39)	missense	probably benign	0.32
R0020:Fbp2	UTSW	13	63,001,862 (GRCm39)	missense	probably damaging	1.00
R0062:Fbp2	UTSW	13	63,001,862 (GRCm39)	missense	probably damaging	1.00
R0063:Fbp2	UTSW	13	63,001,862 (GRCm39)	missense	probably damaging	1.00
R0064:Fbp2	UTSW	13	63,001,862 (GRCm39)	missense	probably damaging	1.00
R0218:Fbp2	UTSW	13	63,001,862 (GRCm39)	missense	probably damaging	1.00
R0219:Fbp2	UTSW	13	63,001,862 (GRCm39)	missense	probably damaging	1.00
R0241:Fbp2	UTSW	13	63,001,862 (GRCm39)	missense	probably damaging	1.00
R1530:Fbp2	UTSW	13	62,984,973 (GRCm39)	missense	probably damaging	1.00
R2069:Fbp2	UTSW	13	63,001,875 (GRCm39)	missense	possibly damaging	0.68
R2091:Fbp2	UTSW	13	63,006,021 (GRCm39)	missense	probably damaging	0.99
R2192:Fbp2	UTSW	13	63,006,056 (GRCm39)	missense	possibly damaging	0.88
R3943:Fbp2	UTSW	13	62,989,607 (GRCm39)	missense	possibly damaging	0.66
R4092:Fbp2	UTSW	13	62,988,174 (GRCm39)	missense	possibly damaging	0.94
R4124:Fbp2	UTSW	13	63,002,755 (GRCm39)	missense	probably damaging	1.00
R4508:Fbp2	UTSW	13	62,989,679 (GRCm39)	missense	probably damaging	0.96
R4841:Fbp2	UTSW	13	63,002,727 (GRCm39)	missense	probably benign	0.29
R5576:Fbp2	UTSW	13	62,985,005 (GRCm39)	missense	probably benign	0.00
R5893:Fbp2	UTSW	13	62,984,916 (GRCm39)	missense	probably benign	0.03
R6989:Fbp2	UTSW	13	63,005,991 (GRCm39)	missense	probably damaging	0.99
R7156:Fbp2	UTSW	13	62,989,675 (GRCm39)	missense	probably benign	0.02
R7340:Fbp2	UTSW	13	62,985,061 (GRCm39)	missense	probably damaging	0.98
R7366:Fbp2	UTSW	13	62,985,012 (GRCm39)	missense	possibly damaging	0.90
R7413:Fbp2	UTSW	13	62,985,067 (GRCm39)	missense	probably benign	0.00
R8855:Fbp2	UTSW	13	62,989,709 (GRCm39)	missense	probably benign	0.00
R8866:Fbp2	UTSW	13	62,989,709 (GRCm39)	missense	probably benign	0.00
R9136:Fbp2	UTSW	13	63,002,840 (GRCm39)	missense	possibly damaging	0.90
R9233:Fbp2	UTSW	13	62,989,622 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TCCCAGTGGAGATTGCAAGGTAGG -3'
(R):5'- GGGGTTACATTCAGCAGAGTCACAG -3'

Sequencing Primer
(F):5'- AGATTGCAAGGTAGGGAGAAG -3'
(R):5'- ACCGATACCTGTTGAGCTATG -3'

Posted On

2013-05-09