Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Fbp2'

457325

Institutional Source

Beutler Lab

Gene Symbol

Fbp2

Ensembl Gene

ENSMUSG00000021456

Gene Name

fructose bisphosphatase 2

Synonyms

FBPase muscle, Fbp-1

MMRRC Submission

044094-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62984698-63006214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62984916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 335 (N335I)

Ref Sequence

ENSEMBL: ENSMUSP00000021907 (fasta)

Gene Model

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

AlphaFold

P70695

Predicted Effect

probably benign
Transcript: ENSMUST00000021907
AA Change: N335I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021907
Gene: ENSMUSG00000021456
AA Change: N335I

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dlat	A	G	9: 50,555,439 (GRCm39)		probably benign	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	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
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
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'- TGTTGTTCATGACAGAAGACCC -3'
(R):5'- TGTATGAATGCAATCCTGTGGC -3'

Sequencing Primer
(F):5'- GTTGTTCATGACAGAAGACCCATAAC -3'
(R):5'- CTGTGGCCTATATCATCGAGCAAG -3'

Posted On

2017-02-15