Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Fbp2'

34423

Institutional Source

Beutler Lab

Gene Symbol

Fbp2

Ensembl Gene

ENSMUSG00000021456

Gene Name

fructose bisphosphatase 2

Synonyms

Fbp-1, FBPase muscle

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62836877-62858422 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62854048 bp (GRCm38)

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: 110,144,872	L641M	probably damaging	Het
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	Het

Other mutations in Fbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Fbp2	APN	13	62841884	missense	possibly damaging	0.90
IGL01284:Fbp2	APN	13	62840285	missense	probably benign	0.32
R0020:Fbp2	UTSW	13	62854048	missense	probably damaging	1.00
R0062:Fbp2	UTSW	13	62854048	missense	probably damaging	1.00
R0063:Fbp2	UTSW	13	62854048	missense	probably damaging	1.00
R0064:Fbp2	UTSW	13	62854048	missense	probably damaging	1.00
R0218:Fbp2	UTSW	13	62854048	missense	probably damaging	1.00
R0219:Fbp2	UTSW	13	62854048	missense	probably damaging	1.00
R0241:Fbp2	UTSW	13	62854048	missense	probably damaging	1.00
R1530:Fbp2	UTSW	13	62837159	missense	probably damaging	1.00
R2069:Fbp2	UTSW	13	62854061	missense	possibly damaging	0.68
R2091:Fbp2	UTSW	13	62858207	missense	probably damaging	0.99
R2192:Fbp2	UTSW	13	62858242	missense	possibly damaging	0.88
R3943:Fbp2	UTSW	13	62841793	missense	possibly damaging	0.66
R4092:Fbp2	UTSW	13	62840360	missense	possibly damaging	0.94
R4124:Fbp2	UTSW	13	62854941	missense	probably damaging	1.00
R4508:Fbp2	UTSW	13	62841865	missense	probably damaging	0.96
R4841:Fbp2	UTSW	13	62854913	missense	probably benign	0.29
R5576:Fbp2	UTSW	13	62837191	missense	probably benign	0.00
R5893:Fbp2	UTSW	13	62837102	missense	probably benign	0.03
R6989:Fbp2	UTSW	13	62858177	missense	probably damaging	0.99
R7156:Fbp2	UTSW	13	62841861	missense	probably benign	0.02
R7340:Fbp2	UTSW	13	62837247	missense	probably damaging	0.98
R7366:Fbp2	UTSW	13	62837198	missense	possibly damaging	0.90
R7413:Fbp2	UTSW	13	62837253	missense	probably benign	0.00
R8855:Fbp2	UTSW	13	62841895	missense	probably benign	0.00
R8866:Fbp2	UTSW	13	62841895	missense	probably benign	0.00
R9136:Fbp2	UTSW	13	62855026	missense	possibly damaging	0.90
R9233:Fbp2	UTSW	13	62841808	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