Mutagenetix > Incidental Mutation

Incidental Mutation 'R5914:Pfkfb2'

461162

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

044111-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5914 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130616919-130656990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130627832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 372 (V372L)

Ref Sequence

ENSEMBL: ENSMUSP00000140698 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050406
AA Change: V372L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: V372L

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

probably damaging
Transcript: ENSMUST00000066863
AA Change: V372L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: V372L

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

probably damaging
Transcript: ENSMUST00000169659
AA Change: V372L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: V372L

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

probably damaging
Transcript: ENSMUST00000171479
AA Change: V372L

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

SMART Domains

Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: V372L

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

probably damaging
Transcript: ENSMUST00000185233
AA Change: V372L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: V372L

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

probably benign
Transcript: ENSMUST00000186867

Predicted Effect

probably damaging
Transcript: ENSMUST00000187089
AA Change: V372L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: V372L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189534
AA Change: V372L

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

SMART Domains

Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: V372L

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

probably damaging
Transcript: ENSMUST00000191347
AA Change: V372L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: V372L

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: ENSMUST00000188520

SMART Domains

Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904

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: ENSMUST00000189167

SMART Domains

Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409

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: ENSMUST00000191301

SMART Domains

Protein: ENSMUSP00000140995
Gene: ENSMUSG00000026409

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

Meta Mutation Damage Score

0.6067

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

95% (87/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,410,219 (GRCm39)	R286H	possibly damaging	Het
Ank3	A	T	10: 69,828,774 (GRCm39)		probably benign	Het
Arhgap24	G	A	5: 102,700,025 (GRCm39)		probably null	Het
Arhgef2	T	C	3: 88,543,176 (GRCm39)	Y396H	probably benign	Het
Asap3	G	T	4: 135,968,720 (GRCm39)	G722C	probably benign	Het
Birc2	A	C	9: 7,857,343 (GRCm39)	*377E	probably null	Het
Cdc123	G	T	2: 5,803,174 (GRCm39)	Q282K	possibly damaging	Het
Cdkl4	C	T	17: 80,855,120 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
Cfap97	T	G	8: 46,634,895 (GRCm39)	S407A	probably damaging	Het
Cfh	A	T	1: 140,063,967 (GRCm39)	N436K	probably benign	Het
Chpf2	A	T	5: 24,797,421 (GRCm39)		probably benign	Het
Cnnm2	A	G	19: 46,751,616 (GRCm39)	T469A	probably benign	Het
Col6a3	T	A	1: 90,703,922 (GRCm39)	I2275F	unknown	Het
Ctdspl2	A	T	2: 121,809,414 (GRCm39)	N122Y	probably damaging	Het
Dcaf6	A	T	1: 165,178,724 (GRCm39)	C602S	probably benign	Het
Dda1	T	A	8: 71,927,294 (GRCm39)		probably benign	Het
Dixdc1	T	C	9: 50,609,888 (GRCm39)		probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Emilin3	T	A	2: 160,750,990 (GRCm39)	N253I	probably damaging	Het
Epg5	T	A	18: 78,002,847 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,209,525 (GRCm39)	Y68*	probably null	Het
Fbln5	T	G	12: 101,727,002 (GRCm39)	D329A	possibly damaging	Het
Fkbp15	T	A	4: 62,246,047 (GRCm39)		probably null	Het
Fnbp4	C	G	2: 90,605,137 (GRCm39)		probably benign	Het
Foxn2	C	A	17: 88,770,138 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,920,012 (GRCm39)	D448G	probably damaging	Het
Fzd9	T	C	5: 135,278,199 (GRCm39)	Y562C	probably benign	Het
Gcn1	A	G	5: 115,748,194 (GRCm39)		silent	Het
Gm6003	A	G	7: 32,864,691 (GRCm39)		noncoding transcript	Het
Gnl3	C	A	14: 30,738,853 (GRCm39)	E65D	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk2	C	T	6: 82,713,615 (GRCm39)	R461K	probably benign	Het
Ice1	A	G	13: 70,754,496 (GRCm39)	F530S	possibly damaging	Het
Ing3	T	A	6: 21,968,904 (GRCm39)	S129T	probably benign	Het
Ino80	G	A	2: 119,288,697 (GRCm39)	S3L	probably damaging	Het
Ints2	T	A	11: 86,113,000 (GRCm39)	Q839H	probably benign	Het
Kcnrg	T	C	14: 61,849,280 (GRCm39)	M247T	probably benign	Het
Kpna6	T	C	4: 129,566,485 (GRCm39)		probably benign	Het
Krtap28-13	T	A	1: 83,039,044 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,748,617 (GRCm39)	V51E	possibly damaging	Het
Map3k5	A	C	10: 19,980,001 (GRCm39)	E836D	probably benign	Het
Mapk11	T	C	15: 89,030,038 (GRCm39)	I193V	probably benign	Het
Marchf10	A	T	11: 105,276,308 (GRCm39)	V660E	probably damaging	Het
Matn4	T	C	2: 164,235,144 (GRCm39)	E435G	probably damaging	Het
Mre11a	G	T	9: 14,723,232 (GRCm39)	R402M	probably damaging	Het
Msr1	C	T	8: 40,034,868 (GRCm39)	G428R	probably damaging	Het
Ndufv3	C	T	17: 31,750,206 (GRCm39)	R99*	probably null	Het
Nkx6-1	C	T	5: 101,811,847 (GRCm39)	S85N	unknown	Het
Nop2	A	T	6: 125,111,691 (GRCm39)	E141D	probably benign	Het
Or5b3	A	G	19: 13,388,326 (GRCm39)	H131R	probably benign	Het
Or8b1	G	C	9: 38,399,657 (GRCm39)	E111Q	probably damaging	Het
Paox	T	C	7: 139,709,101 (GRCm39)	S205P	probably damaging	Het
Pcdh15	T	C	10: 74,466,768 (GRCm39)	V995A	probably benign	Het
Pdcd1	T	A	1: 93,968,550 (GRCm39)	K161N	probably benign	Het
Phldb1	G	A	9: 44,622,948 (GRCm39)	T19I	probably damaging	Het
Pik3c2g	G	T	6: 139,599,477 (GRCm39)	V198L	probably benign	Het
Pnpla8	T	A	12: 44,342,753 (GRCm39)	L41*	probably null	Het
Postn	C	T	3: 54,281,221 (GRCm39)	Q449*	probably null	Het
Ppp1r3a	C	T	6: 14,718,988 (GRCm39)	S642N	probably benign	Het
Ptpn23	G	A	9: 110,214,511 (GRCm39)		probably benign	Het
Ptprj	T	C	2: 90,283,684 (GRCm39)	N923S	possibly damaging	Het
Rai1	T	C	11: 60,078,630 (GRCm39)	V898A	probably benign	Het
Rasgef1a	A	T	6: 118,057,515 (GRCm39)	Y72F	possibly damaging	Het
Serpinb7	T	C	1: 107,379,580 (GRCm39)	V329A	probably damaging	Het
Slc24a4	T	A	12: 102,201,049 (GRCm39)	I311N	probably damaging	Het
Slc45a1	C	A	4: 150,713,997 (GRCm39)	L749F	possibly damaging	Het
Spon1	G	A	7: 113,630,056 (GRCm39)	D428N	probably damaging	Het
Tcf7l2	G	A	19: 55,886,992 (GRCm39)	E2K	probably benign	Het
Thoc5	A	G	11: 4,870,416 (GRCm39)	M472V	possibly damaging	Het
Tm6sf2	T	C	8: 70,528,213 (GRCm39)	Y121H	probably damaging	Het
Tmc4	T	A	7: 3,675,008 (GRCm39)	D221V	probably benign	Het
Trim30b	A	T	7: 104,006,572 (GRCm39)	S95T	probably damaging	Het
Trip12	T	C	1: 84,741,179 (GRCm39)	E571G	probably damaging	Het
Ttn	T	C	2: 76,781,656 (GRCm39)		probably null	Het
Ubp1	A	T	9: 113,785,807 (GRCm39)	R161W	probably benign	Het
Usp21	G	A	1: 171,109,745 (GRCm39)		probably benign	Het
Vmn1r61	T	A	7: 5,613,529 (GRCm39)	R262W	probably damaging	Het
Vmn2r67	A	T	7: 84,801,044 (GRCm39)	D297E	probably damaging	Het
Vwa5a	T	C	9: 38,653,038 (GRCm39)	L784S	probably benign	Het
Vwc2	G	A	11: 11,104,244 (GRCm39)	V259M	probably damaging	Het
Zeb2	T	C	2: 44,887,064 (GRCm39)	I596M	probably benign	Het
Zgrf1	T	A	3: 127,354,672 (GRCm39)	L97H	probably damaging	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
R1458:Pfkfb2	UTSW	1	130,635,927 (GRCm39)	missense	possibly damaging	0.89
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
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'- GTCAAGAATCCCGCTAGCAC -3'
(R):5'- GAGTCTCAGAGGTTCGGGAAAC -3'

Sequencing Primer
(F):5'- ACCAAGTCCAACCTATCCCTTTGG -3'
(R):5'- GGAAACCTGCACAACTCTTTTG -3'

Posted On

2017-02-28