Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Fbp2'

700383

Institutional Source

Beutler Lab

Gene Symbol

Fbp2

Ensembl Gene

ENSMUSG00000021456

Gene Name

fructose bisphosphatase 2

Synonyms

FBPase muscle, Fbp-1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62984698-63006214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62989622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 228 (V228E)

Ref Sequence

ENSEMBL: ENSMUSP00000021907 (fasta)

Gene Model

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

AlphaFold

P70695

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021907
AA Change: V228E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021907
Gene: ENSMUSG00000021456
AA Change: V228E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,082,496 (GRCm39)	T1159K	probably benign	Het
Acap1	A	G	11: 69,775,484 (GRCm39)	V479A	probably benign	Het
Actl11	A	G	9: 107,807,900 (GRCm39)	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909 (GRCm39)	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,176,653 (GRCm39)	R418*	probably null	Het
Asic3	G	A	5: 24,618,837 (GRCm39)	R43H	probably damaging	Het
Bsn	A	G	9: 107,994,289 (GRCm39)	V662A	probably benign	Het
Cacna1a	C	T	8: 85,271,283 (GRCm39)	R479C	probably damaging	Het
Chchd3	A	T	6: 32,780,845 (GRCm39)	C214S	probably damaging	Het
Cspg4b	A	T	13: 113,502,754 (GRCm39)	Y100F		Het
Dock9	T	A	14: 121,820,781 (GRCm39)	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,466,913 (GRCm39)	M156V	probably benign	Het
Dzip1	T	C	14: 119,124,635 (GRCm39)	Q546R	probably benign	Het
Eef2	T	C	10: 81,014,668 (GRCm39)	V185A	probably benign	Het
Etv4	A	C	11: 101,662,532 (GRCm39)	V314G	probably damaging	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fcgbpl1	A	G	7: 27,839,519 (GRCm39)	Y444C	possibly damaging	Het
Fhip2a	T	A	19: 57,369,098 (GRCm39)	F360L	probably damaging	Het
Gcc1	A	G	6: 28,418,710 (GRCm39)	L541P	probably damaging	Het
Gemin4	A	G	11: 76,103,942 (GRCm39)	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,056,387 (GRCm39)	K1193E	possibly damaging	Het
Gmps	C	T	3: 63,924,133 (GRCm39)	P687L	probably damaging	Het
Gpr162	A	G	6: 124,836,014 (GRCm39)	L462P	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa12b	T	C	2: 130,976,036 (GRCm39)	Y13H	probably damaging	Het
Kcnh8	A	C	17: 53,285,168 (GRCm39)	E1046A	probably damaging	Het
Kcnk12	T	A	17: 88,053,538 (GRCm39)	T375S	probably benign	Het
Kdm4a	A	G	4: 118,004,193 (GRCm39)		probably null	Het
Klhl5	G	T	5: 65,300,673 (GRCm39)	V219L	possibly damaging	Het
Kpna1	A	T	16: 35,853,793 (GRCm39)	E474D	probably damaging	Het
Lama5	A	T	2: 179,840,502 (GRCm39)	Y632*	probably null	Het
Lias	A	G	5: 65,551,331 (GRCm39)	N88S	probably benign	Het
Mei1	C	T	15: 81,973,752 (GRCm39)	R80C		Het
Mical2	T	G	7: 111,981,399 (GRCm39)	S458A	probably benign	Het
Mrps33	A	G	6: 39,782,447 (GRCm39)	S25P	probably benign	Het
Mttp	T	A	3: 137,822,280 (GRCm39)	D169V	probably damaging	Het
Npdc1	A	G	2: 25,296,329 (GRCm39)	E72G	probably damaging	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Pcnx4	A	G	12: 72,603,587 (GRCm39)	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigu	C	T	2: 155,178,610 (GRCm39)	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,279,397 (GRCm39)	R52*	probably null	Het
Rbm33	A	G	5: 28,544,239 (GRCm39)	E165G	probably benign	Het
Rnf5	A	T	17: 34,822,326 (GRCm39)	V41E	possibly damaging	Het
Ror2	T	C	13: 53,265,590 (GRCm39)	T501A	probably benign	Het
Rps17	T	G	7: 80,993,497 (GRCm39)	M105L	probably benign	Het
Ryr2	A	T	13: 11,610,772 (GRCm39)	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,416,720 (GRCm39)	M721V	probably benign	Het
Scgb1b30	A	G	7: 33,799,184 (GRCm39)	T39A	probably damaging	Het
Selenoo	T	C	15: 88,984,044 (GRCm39)	V620A	probably damaging	Het
Slfn8	A	C	11: 82,894,422 (GRCm39)	I739R	probably damaging	Het
Smc6	A	G	12: 11,359,291 (GRCm39)	T972A	probably benign	Het
Spred1	G	A	2: 117,002,644 (GRCm39)	R221H	unknown	Het
Stag1	T	A	9: 100,812,024 (GRCm39)	M834K	probably benign	Het
Taf1a	T	C	1: 183,181,878 (GRCm39)	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,175,018 (GRCm39)	D158N	probably benign	Het
Tcirg1	G	T	19: 3,952,543 (GRCm39)	T275K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tor1b	A	C	2: 30,844,015 (GRCm39)	I151L	probably benign	Het
Trappc12	T	A	12: 28,772,414 (GRCm39)	Q471L	possibly damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,613,272 (GRCm39)	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,461,381 (GRCm39)	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,272,399 (GRCm39)	R118G	probably benign	Het
Vps13d	G	A	4: 144,879,344 (GRCm39)	T1493I		Het
Xrra1	T	G	7: 99,516,574 (GRCm39)	M6R	probably benign	Het
Zfp142	T	C	1: 74,610,288 (GRCm39)	E1169G	probably benign	Het
Zfp738	G	T	13: 67,819,017 (GRCm39)	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,776,310 (GRCm39)	M1209T	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TTATGAAGAAGGGCAGAGTCCATC -3'
(R):5'- AGGTTCCAGATGACTGCAGG -3'

Sequencing Primer
(F):5'- GTCCATCAGACTCATGCAGATG -3'
(R):5'- TTCCAGATGACTGCAGGGAAGC -3'

Posted On

2022-02-07