Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Pfkfb3'

255452

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb3

Ensembl Gene

ENSMUSG00000026773

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

Synonyms

E330010H22Rik, uPFK-2

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11471433-11554077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11484327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 286 (V286I)

Ref Sequence

ENSEMBL: ENSMUSP00000142079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028114] [ENSMUST00000049849] [ENSMUST00000100411] [ENSMUST00000114844] [ENSMUST00000114845] [ENSMUST00000114846] [ENSMUST00000170196] [ENSMUST00000171188] [ENSMUST00000179584] [ENSMUST00000183869] [ENSMUST00000191668] [ENSMUST00000192949] [ENSMUST00000195779]

AlphaFold

A7UAK5

Predicted Effect

probably benign
Transcript: ENSMUST00000028114
AA Change: V286I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	2.6e-110	PFAM
Pfam:KTI12	36	218	7e-9	PFAM
Pfam:AAA_33	37	191	1.7e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000049849
AA Change: V286I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	3.3e-110	PFAM
Pfam:KTI12	36	218	9.7e-9	PFAM
Pfam:AAA_33	37	191	1.9e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100411
AA Change: V286I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	5.8e-110	PFAM
Pfam:KTI12	36	219	9.6e-9	PFAM
Pfam:AAA_33	37	191	2.4e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114844
AA Change: V286I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	6.6e-110	PFAM
Pfam:KTI12	36	218	1.1e-8	PFAM
Pfam:AAA_33	37	191	2.6e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114845
AA Change: V286I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	2.6e-110	PFAM
Pfam:KTI12	36	218	7e-9	PFAM
Pfam:AAA_33	37	191	1.7e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114846
AA Change: V286I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	3.1e-110	PFAM
Pfam:KTI12	36	219	9e-9	PFAM
Pfam:AAA_33	37	191	1.9e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150086

Predicted Effect

probably benign
Transcript: ENSMUST00000170196
AA Change: V286I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	3.4e-110	PFAM
Pfam:KTI12	36	218	9.9e-9	PFAM
Pfam:AAA_33	37	191	2e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171188
AA Change: V286I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	3.2e-110	PFAM
Pfam:KTI12	36	209	4.2e-8	PFAM
Pfam:AAA_33	37	167	1.8e-9	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179584
AA Change: V286I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	2.3e-110	PFAM
Pfam:KTI12	36	225	7e-9	PFAM
Pfam:AAA_33	37	191	1.5e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183869
AA Change: V286I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	2.3e-110	PFAM
Pfam:KTI12	36	225	7e-9	PFAM
Pfam:AAA_33	37	191	1.5e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191668
AA Change: V286I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: V286I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	24	246	3.6e-110	PFAM
Pfam:KTI12	36	218	1e-8	PFAM
Pfam:AAA_33	37	191	2.1e-10	PFAM
PGAM	248	395	5.09e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192844

Predicted Effect

probably benign
Transcript: ENSMUST00000192949
AA Change: V266I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: V266I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	3	226	1.9e-107	PFAM
Pfam:KTI12	16	200	3.9e-6	PFAM
Pfam:AAA_33	17	171	1.9e-8	PFAM
PGAM	228	375	3.8e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195779
AA Change: V282I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: V282I

Domain	Start	End	E-Value	Type
Pfam:6PF2K	3	159	1.3e-69	PFAM
Pfam:KTI12	16	212	1.8e-6	PFAM
Pfam:AAA_33	17	163	1.6e-9	PFAM
Pfam:6PF2K	158	242	2.2e-32	PFAM
Pfam:His_Phos_1	244	326	3.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191726

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of bifunctional proteins that are 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 (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before E8 [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Pfkfb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Pfkfb3	APN	2	11488754	missense	probably damaging	1.00
IGL01651:Pfkfb3	APN	2	11489684	missense	probably damaging	0.97
IGL02010:Pfkfb3	APN	2	11483994	missense	probably benign
IGL02546:Pfkfb3	APN	2	11488778	missense	probably damaging	1.00
IGL03182:Pfkfb3	APN	2	11501663	missense	probably damaging	0.99
R1491:Pfkfb3	UTSW	2	11493936	missense	probably damaging	1.00
R2365:Pfkfb3	UTSW	2	11493902	critical splice donor site	probably null
R2919:Pfkfb3	UTSW	2	11484327	missense	probably benign	0.00
R4709:Pfkfb3	UTSW	2	11493908	missense	probably damaging	1.00
R4863:Pfkfb3	UTSW	2	11486312	missense	probably benign
R4915:Pfkfb3	UTSW	2	11490298	nonsense	probably null
R5087:Pfkfb3	UTSW	2	11484014	missense	probably damaging	1.00
R5109:Pfkfb3	UTSW	2	11486351	splice site	probably benign
R5244:Pfkfb3	UTSW	2	11484849	missense	probably damaging	1.00
R5488:Pfkfb3	UTSW	2	11484669	missense	probably benign	0.00
R5573:Pfkfb3	UTSW	2	11501672	missense	probably benign	0.28
R5619:Pfkfb3	UTSW	2	11484659	missense	probably benign	0.00
R5757:Pfkfb3	UTSW	2	11480330	missense	probably damaging	0.99
R6015:Pfkfb3	UTSW	2	11481335	critical splice acceptor site	probably null
R7495:Pfkfb3	UTSW	2	11482501	missense	probably damaging	1.00
R7688:Pfkfb3	UTSW	2	11492639	missense	probably damaging	1.00
R7813:Pfkfb3	UTSW	2	11481908	missense	probably benign	0.12
R8682:Pfkfb3	UTSW	2	11484333	missense	probably benign	0.00
R8911:Pfkfb3	UTSW	2	11482443	critical splice donor site	probably null
R9103:Pfkfb3	UTSW	2	11482570	missense	probably damaging	1.00
R9198:Pfkfb3	UTSW	2	11486273	missense	probably damaging	1.00
R9423:Pfkfb3	UTSW	2	11482465	missense	probably damaging	1.00
R9632:Pfkfb3	UTSW	2	11481298	missense	probably benign
R9682:Pfkfb3	UTSW	2	11486247	missense	probably benign	0.26
X0024:Pfkfb3	UTSW	2	11482555	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGGCCACCTCAAATAAAGGG -3'
(R):5'- TGAGTGTGGCCTAGAAGTCG -3'

Sequencing Primer
(F):5'- AGGTTTCCAGAGAACCCATG -3'
(R):5'- CCTAGAAGTCGGAGGGTAGAGTC -3'

Posted On

2014-12-29