Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Pfkfb2'

161841

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb2

Ensembl Gene

ENSMUSG00000026409

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

Synonyms

4930568D07Rik, PFK-2/FBPase-2 gene B

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130616919-130656990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130635927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 35 (Y35N)

Ref Sequence

ENSEMBL: ENSMUSP00000133073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050406] [ENSMUST00000066863] [ENSMUST00000169659] [ENSMUST00000171479] [ENSMUST00000185233] [ENSMUST00000186777] [ENSMUST00000186867] [ENSMUST00000191301] [ENSMUST00000189534] [ENSMUST00000188520] [ENSMUST00000189167] [ENSMUST00000191347] [ENSMUST00000187089]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050406
AA Change: Y35N

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	8.1e-107	PFAM
Pfam:KTI12	40	206	9.6e-8	PFAM
Pfam:AAA_33	42	198	3.1e-9	PFAM
PGAM	253	400	3.82e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066863
AA Change: Y35N

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	1.2e-106	PFAM
Pfam:KTI12	41	207	3.5e-8	PFAM
Pfam:AAA_33	42	199	1.2e-10	PFAM
PGAM	253	400	3.82e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169659
AA Change: Y35N

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	1.3e-106	PFAM
Pfam:KTI12	41	207	4.3e-8	PFAM
Pfam:AAA_33	42	199	1.2e-10	PFAM
PGAM	253	400	3.82e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171479
AA Change: Y35N

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	1.2e-106	PFAM
Pfam:KTI12	41	208	3.7e-8	PFAM
Pfam:AAA_33	42	199	1.1e-10	PFAM
PGAM	253	400	3.82e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185233
AA Change: Y35N

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	1.2e-106	PFAM
Pfam:KTI12	41	207	3.5e-8	PFAM
Pfam:AAA_33	42	199	1.2e-10	PFAM
PGAM	253	400	3.82e-16	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000186777
AA Change: L38Q

Predicted Effect

unknown
Transcript: ENSMUST00000186867
AA Change: L38Q

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191301
AA Change: Y35N

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140995
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	181	9.5e-70	PFAM
Pfam:KTI12	41	183	3.2e-8	PFAM
Pfam:AAA_33	42	184	1.1e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189534
AA Change: Y35N

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	1.2e-106	PFAM
Pfam:KTI12	41	208	3.7e-8	PFAM
Pfam:AAA_33	42	199	1.1e-10	PFAM
PGAM	253	400	3.82e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188520
AA Change: Y35N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	6.3e-107	PFAM
Pfam:KTI12	41	209	2.3e-8	PFAM
Pfam:AAA_33	42	199	6.4e-11	PFAM
PGAM	253	342	1.31e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189167
AA Change: Y35N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	6.3e-107	PFAM
Pfam:KTI12	41	209	2.3e-8	PFAM
Pfam:AAA_33	42	199	6.4e-11	PFAM
PGAM	253	342	1.31e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191347
AA Change: Y35N

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	1.2e-103	PFAM
Pfam:KTI12	41	207	2.4e-5	PFAM
Pfam:AAA_33	42	199	1.6e-8	PFAM
PGAM	253	400	2.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187089
AA Change: Y35N

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: Y35N

Domain	Start	End	E-Value	Type
Pfam:6PF2K	28	251	1e-103	PFAM
Pfam:KTI12	41	207	2.3e-5	PFAM
Pfam:AAA_33	42	199	1.4e-8	PFAM
PGAM	253	400	2.9e-20	SMART

Meta Mutation Damage Score

0.1269

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

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 involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,677,043 (GRCm39)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,055,423 (GRCm39)		noncoding transcript	Het
Abce1	T	C	8: 80,433,864 (GRCm39)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,081,104 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,878,366 (GRCm39)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,172,528 (GRCm39)	M497K	probably damaging	Het
Adgrb2	T	A	4: 129,908,384 (GRCm39)	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,303,693 (GRCm39)	S168C	probably damaging	Het
Akap3	A	T	6: 126,842,517 (GRCm39)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,486,437 (GRCm39)	M135I	probably null	Het
Arhgef12	A	G	9: 42,900,294 (GRCm39)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,843,707 (GRCm39)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,229,871 (GRCm39)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,865,685 (GRCm39)	S228T	probably damaging	Het
Cic	T	C	7: 24,979,162 (GRCm39)		probably benign	Het
Cimap1d	A	T	10: 79,481,392 (GRCm39)		probably benign	Het
Cmya5	T	A	13: 93,201,835 (GRCm39)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,573,535 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,404,451 (GRCm39)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 130,646,217 (GRCm39)		probably benign	Het
Drd2	G	A	9: 49,313,512 (GRCm39)	R227H	probably damaging	Het
Dscc1	C	A	15: 54,950,160 (GRCm39)	C195F	probably damaging	Het
Dzip1	T	A	14: 119,160,125 (GRCm39)	M28L	probably benign	Het
Edar	A	T	10: 58,443,188 (GRCm39)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,840,099 (GRCm39)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,143,849 (GRCm39)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Fgl1	C	G	8: 41,663,496 (GRCm39)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,748,592 (GRCm39)	V689A	probably benign	Het
Fry	T	A	5: 150,304,324 (GRCm39)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,675,450 (GRCm39)	R104*	probably null	Het
Gm1527	A	G	3: 28,972,199 (GRCm39)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,659,640 (GRCm39)	G361*	probably null	Het
Gm7052	T	A	17: 22,259,447 (GRCm39)		probably benign	Het
Gpatch8	A	T	11: 102,372,055 (GRCm39)	S494R	unknown	Het
Gria2	A	T	3: 80,639,352 (GRCm39)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,432,418 (GRCm39)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,591,930 (GRCm39)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,203,468 (GRCm39)		probably benign	Het
H2ac8	C	A	13: 23,755,221 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,485,451 (GRCm39)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 130,987,112 (GRCm39)	A678P	probably damaging	Het
Igsf21	T	A	4: 139,755,435 (GRCm39)	N407Y	probably damaging	Het
Insig2	A	G	1: 121,234,885 (GRCm39)	Y174H	probably benign	Het
Itpr3	T	A	17: 27,337,346 (GRCm39)	M2413K	probably benign	Het
Kalrn	A	T	16: 33,994,857 (GRCm39)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 43,840,890 (GRCm39)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,358,198 (GRCm39)	Q352K	probably benign	Het
Lca5l	A	T	16: 95,961,059 (GRCm39)	S468T	possibly damaging	Het
Lvrn	T	C	18: 47,015,452 (GRCm39)		probably benign	Het
Mcpt1	T	A	14: 56,256,621 (GRCm39)		probably benign	Het
Med13l	T	C	5: 118,876,524 (GRCm39)	M900T	probably benign	Het
Med16	A	G	10: 79,743,312 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mep1a	T	C	17: 43,802,563 (GRCm39)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,228,598 (GRCm39)	D659V	probably benign	Het
Mroh8	T	A	2: 157,063,224 (GRCm39)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,334,808 (GRCm39)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,694,808 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,555,806 (GRCm39)	Q932K	probably benign	Het
Nav3	A	C	10: 109,555,905 (GRCm39)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,674,666 (GRCm39)	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,708,482 (GRCm39)		probably benign	Het
Or2w4	C	T	13: 21,795,992 (GRCm39)	C49Y	probably benign	Het
Or5k8	T	A	16: 58,645,039 (GRCm39)	E11V	probably null	Het
P4hb	A	G	11: 120,453,381 (GRCm39)		probably benign	Het
Papss1	T	G	3: 131,311,615 (GRCm39)	I281S	probably damaging	Het
Pde10a	A	T	17: 9,183,540 (GRCm39)	D832V	probably damaging	Het
Phaf1	T	C	8: 105,973,188 (GRCm39)		probably null	Het
Phf20l1	T	A	15: 66,476,662 (GRCm39)	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,379,511 (GRCm39)	V1046I	probably benign	Het
Plin3	C	T	17: 56,591,337 (GRCm39)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,567,942 (GRCm39)		probably benign	Het
Ppp2r3d	A	G	9: 101,088,511 (GRCm39)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,860,585 (GRCm39)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,398,519 (GRCm39)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,365,310 (GRCm39)	I155N	probably benign	Het
Prom1	T	C	5: 44,190,274 (GRCm39)		probably benign	Het
Psg25	C	T	7: 18,263,512 (GRCm39)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,282,094 (GRCm39)	V817A	probably benign	Het
Ryr2	T	A	13: 11,741,908 (GRCm39)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,208,248 (GRCm39)	T253A	probably benign	Het
Smg7	A	T	1: 152,731,594 (GRCm39)		probably null	Het
Spink5	C	A	18: 44,140,786 (GRCm39)	H662N	probably benign	Het
Taf2	A	T	15: 54,923,311 (GRCm39)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,090,682 (GRCm39)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,837,915 (GRCm39)	S255P	possibly damaging	Het
Trim46	A	T	3: 89,142,375 (GRCm39)		probably null	Het
Tubb1	T	A	2: 174,292,596 (GRCm39)		probably null	Het
Upf1	T	C	8: 70,796,904 (GRCm39)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,996,850 (GRCm39)	I140L	probably benign	Het
Zfp638	T	A	6: 83,921,638 (GRCm39)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het
Zpld2	T	C	4: 133,924,144 (GRCm39)	D467G	probably benign	Het

Other mutations in Pfkfb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01990:Pfkfb2	APN	1	130,633,107 (GRCm39)	splice site	probably benign
IGL02273:Pfkfb2	APN	1	130,635,319 (GRCm39)	missense	probably damaging	1.00
IGL02369:Pfkfb2	APN	1	130,628,572 (GRCm39)	missense	probably damaging	0.99
IGL02469:Pfkfb2	APN	1	130,627,774 (GRCm39)	missense	probably damaging	1.00
IGL02490:Pfkfb2	APN	1	130,628,589 (GRCm39)	missense	probably damaging	1.00
R0080:Pfkfb2	UTSW	1	130,642,279 (GRCm39)	missense	probably benign	0.20
R0616:Pfkfb2	UTSW	1	130,634,159 (GRCm39)	splice site	probably null
R1490:Pfkfb2	UTSW	1	130,625,626 (GRCm39)	splice site	probably null
R1548:Pfkfb2	UTSW	1	130,625,820 (GRCm39)	missense	probably benign
R1554:Pfkfb2	UTSW	1	130,634,209 (GRCm39)	missense	probably damaging	1.00
R2143:Pfkfb2	UTSW	1	130,626,460 (GRCm39)	missense	probably benign	0.00
R2144:Pfkfb2	UTSW	1	130,626,460 (GRCm39)	missense	probably benign	0.00
R2145:Pfkfb2	UTSW	1	130,626,460 (GRCm39)	missense	probably benign	0.00
R2212:Pfkfb2	UTSW	1	130,635,269 (GRCm39)	missense	probably damaging	1.00
R2938:Pfkfb2	UTSW	1	130,633,147 (GRCm39)	missense	possibly damaging	0.95
R4650:Pfkfb2	UTSW	1	130,633,200 (GRCm39)	missense	possibly damaging	0.67
R4683:Pfkfb2	UTSW	1	130,634,221 (GRCm39)	critical splice acceptor site	probably null
R5153:Pfkfb2	UTSW	1	130,629,527 (GRCm39)	missense	probably damaging	1.00
R5914:Pfkfb2	UTSW	1	130,627,832 (GRCm39)	missense	probably damaging	1.00
R5976:Pfkfb2	UTSW	1	130,635,816 (GRCm39)	nonsense	probably null
R6194:Pfkfb2	UTSW	1	130,625,624 (GRCm39)	makesense	probably null
R6285:Pfkfb2	UTSW	1	130,635,299 (GRCm39)	nonsense	probably null
R6956:Pfkfb2	UTSW	1	130,635,337 (GRCm39)	missense	probably damaging	1.00
R6971:Pfkfb2	UTSW	1	130,628,533 (GRCm39)	missense	probably damaging	1.00
R7723:Pfkfb2	UTSW	1	130,635,325 (GRCm39)	missense	probably damaging	1.00
R8475:Pfkfb2	UTSW	1	130,624,816 (GRCm39)	missense	probably benign
R8704:Pfkfb2	UTSW	1	130,625,780 (GRCm39)	missense	probably benign	0.12
R8846:Pfkfb2	UTSW	1	130,625,648 (GRCm39)	missense	probably benign
R8884:Pfkfb2	UTSW	1	130,634,213 (GRCm39)	missense	probably damaging	0.96
R9033:Pfkfb2	UTSW	1	130,626,475 (GRCm39)	nonsense	probably null
R9739:Pfkfb2	UTSW	1	130,624,815 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTAGGGCCAGGGAACACATTCAG -3'
(R):5'- GCCAAATATAGCCTCAGTCTGCCTTC -3'

Sequencing Primer
(F):5'- TGCGAAGAAGACTAAGTCTCTC -3'
(R):5'- GGCTATGAAACTTCTCATCTCATG -3'

Posted On

2014-03-14