Mutagenetix > Incidental Mutations

Incidental Mutation 'R2144:Pfkfb2'

236576

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

040147-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130689182-130729253 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130698723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 438 (T438A)

Ref Sequence

ENSEMBL: ENSMUSP00000140698 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050406
AA Change: T417A

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

SMART Domains

Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: T417A

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 benign
Transcript: ENSMUST00000066863
AA Change: T438A

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

SMART Domains

Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: T438A

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: ENSMUST00000169659
AA Change: T438A

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

SMART Domains

Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: T438A

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 benign
Transcript: ENSMUST00000171479
AA Change: T438A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: T438A

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 benign
Transcript: ENSMUST00000185233
AA Change: T438A

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

SMART Domains

Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: T438A

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 benign
Transcript: ENSMUST00000187089
AA Change: T438A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: T438A

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

silent
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

silent
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: ENSMUST00000189534
AA Change: T438A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: T438A

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 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

Predicted Effect

probably benign
Transcript: ENSMUST00000191347
AA Change: T438A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: T438A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,868,174	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,868,175	T69S	unknown	Het
Acsl6	A	T	11: 54,341,778	Q485L	probably damaging	Het
Adam5	C	A	8: 24,815,480	V81F	probably benign	Het
Armc4	C	T	18: 7,127,229	E995K	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bag2	A	G	1: 33,746,831	S137P	possibly damaging	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Cap2	A	T	13: 46,560,502		probably null	Het
Ccnk	T	A	12: 108,189,090	L102Q	probably null	Het
Cd52	T	C	4: 134,093,737		probably benign	Het
Cdc123	A	T	2: 5,810,806	I160K	probably benign	Het
Cep85l	T	C	10: 53,358,126	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,101,710	T298I	probably benign	Het
Cpsf4	G	T	5: 145,178,762	S192I	probably benign	Het
Cpxm1	A	G	2: 130,397,410	S33P	probably benign	Het
Cyp2a12	A	T	7: 27,034,769	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,456,084	F137S	probably damaging	Het
Des	A	G	1: 75,366,804	T444A	probably benign	Het
Dgcr8	C	T	16: 18,284,256	G54D	probably damaging	Het
Doxl2	A	G	6: 48,975,291	H50R	probably benign	Het
Dsc3	A	G	18: 19,980,686	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Eml5	A	C	12: 98,810,605	F1417C	probably damaging	Het
Ep400	A	T	5: 110,703,518	M1366K	unknown	Het
Epg5	G	T	18: 77,954,197	C425F	possibly damaging	Het
Epha3	C	G	16: 63,773,317	R136P	possibly damaging	Het
Extl1	C	A	4: 134,371,044	E225D	probably benign	Het
Fam186b	A	G	15: 99,280,657	Y263H	probably benign	Het
Fbn2	A	G	18: 58,052,993	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Gart	A	T	16: 91,630,081	I555N	probably damaging	Het
Gm11596	A	T	11: 99,792,963	C110*	probably null	Het
Gnptab	C	T	10: 88,428,506	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,518,231	V263A	probably benign	Het
Gxylt1	T	C	15: 93,254,480	I224V	probably benign	Het
H2-Aa	A	G	17: 34,283,827	S122P	probably damaging	Het
Hsph1	A	C	5: 149,630,337		probably null	Het
Hunk	G	A	16: 90,432,532	D94N	probably damaging	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Ints10	A	G	8: 68,796,805	T96A	probably damaging	Het
Kansl2	A	T	15: 98,526,631	V306E	probably benign	Het
Kif20a	A	G	18: 34,625,604	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,580,818	I50V	probably benign	Het
Ktn1	A	G	14: 47,714,652	E983G	probably damaging	Het
Lrrk1	G	A	7: 66,296,163	S566L	probably damaging	Het
M6pr	A	G	6: 122,315,367	M174V	probably benign	Het
Man2a2	A	G	7: 80,363,516	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,945,075	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,154,189		probably null	Het
Mrgpra9	T	C	7: 47,235,463	E152G	probably benign	Het
Mst1r	T	C	9: 107,913,168	V660A	probably benign	Het
Myof	A	G	19: 37,981,221		probably null	Het
Myrf	G	A	19: 10,228,674	P126L	probably benign	Het
Nckap1l	C	T	15: 103,475,676	A567V	probably damaging	Het
Nphs1	A	G	7: 30,460,970	E169G	probably benign	Het
Npy1r	T	A	8: 66,705,184	V382D	probably benign	Het
Nrl	A	T	14: 55,520,850	M140K	possibly damaging	Het
Olfr1305	A	G	2: 111,873,423	I144T	probably damaging	Het
Olfr199	C	T	16: 59,216,026	V196M	probably benign	Het
Olfr292	T	A	7: 86,695,280	F275I	probably damaging	Het
Olfr694	A	T	7: 106,688,957	M258K	probably damaging	Het
Olfr924	C	T	9: 38,848,339	T75I	probably damaging	Het
Orc5	T	A	5: 22,547,927	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 12,871,173	S396T	probably benign	Het
Pappa	T	A	4: 65,180,949	Y568*	probably null	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pclo	C	T	5: 14,858,752	L5025F	unknown	Het
Pde3a	T	C	6: 141,490,111	V924A	probably benign	Het
Pdpr	A	G	8: 111,118,036	N355S	probably damaging	Het
Pepd	A	T	7: 34,921,418	K36M	probably benign	Het
Pet100	T	G	8: 3,622,355	L14R	probably damaging	Het
Pik3r6	T	A	11: 68,543,611	L546*	probably null	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Primpol	A	T	8: 46,586,343	M414K	probably damaging	Het
Prol1	A	T	5: 88,328,395	T215S	unknown	Het
Prss22	A	G	17: 23,994,682	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,388,604	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rbm26	T	A	14: 105,115,202	R1009*	probably null	Het
Rbm42	A	G	7: 30,641,110	*450Q	probably null	Het
Rere	T	C	4: 150,616,931	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,407,983	L15F	probably damaging	Het
Rnf213	T	C	11: 119,443,690	S3242P	probably damaging	Het
Rtel1	T	A	2: 181,323,706	V167E	probably damaging	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Sin3b	T	C	8: 72,731,265	L203P	probably damaging	Het
Skint6	T	C	4: 113,236,260	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,809,378	Y566C	probably damaging	Het
Smgc	T	G	15: 91,844,421	D121E	possibly damaging	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
St7	A	T	6: 17,886,007	N52I	possibly damaging	Het
Sycn	C	A	7: 28,541,069	Q54K	probably benign	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,642,804	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,613,499	Y443H	probably damaging	Het
Tmem200c	A	T	17: 68,842,249	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,517,490	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,168,541	V23G	possibly damaging	Het
Trhr	T	C	15: 44,197,183	V33A	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Trnt1	A	G	6: 106,778,039	K244E	probably damaging	Het
Tsfm	G	A	10: 127,028,445	Q134*	probably null	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,954,482	L623F	probably damaging	Het
Wdr55	A	G	18: 36,762,366	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,896,214	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,948,988		probably benign	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp592	A	G	7: 81,038,202	T959A	probably benign	Het

Other mutations in Pfkfb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01990:Pfkfb2	APN	1	130705370	splice site	probably benign
IGL02273:Pfkfb2	APN	1	130707582	missense	probably damaging	1.00
IGL02369:Pfkfb2	APN	1	130700835	missense	probably damaging	0.99
IGL02469:Pfkfb2	APN	1	130700037	missense	probably damaging	1.00
IGL02490:Pfkfb2	APN	1	130700852	missense	probably damaging	1.00
R0080:Pfkfb2	UTSW	1	130714542	missense	probably benign	0.20
R0616:Pfkfb2	UTSW	1	130706422	splice site	probably null
R1458:Pfkfb2	UTSW	1	130708190	missense	possibly damaging	0.89
R1490:Pfkfb2	UTSW	1	130697889	splice site	probably null
R1548:Pfkfb2	UTSW	1	130698083	missense	probably benign
R1554:Pfkfb2	UTSW	1	130706472	missense	probably damaging	1.00
R2143:Pfkfb2	UTSW	1	130698723	missense	probably benign	0.00
R2145:Pfkfb2	UTSW	1	130698723	missense	probably benign	0.00
R2212:Pfkfb2	UTSW	1	130707532	missense	probably damaging	1.00
R2938:Pfkfb2	UTSW	1	130705410	missense	possibly damaging	0.95
R4650:Pfkfb2	UTSW	1	130705463	missense	possibly damaging	0.67
R4683:Pfkfb2	UTSW	1	130706484	critical splice acceptor site	probably null
R5153:Pfkfb2	UTSW	1	130701790	missense	probably damaging	1.00
R5914:Pfkfb2	UTSW	1	130700095	missense	probably damaging	1.00
R5976:Pfkfb2	UTSW	1	130708079	nonsense	probably null
R6194:Pfkfb2	UTSW	1	130697887	makesense	probably null
R6285:Pfkfb2	UTSW	1	130707562	nonsense	probably null
R6956:Pfkfb2	UTSW	1	130707600	missense	probably damaging	1.00
R6971:Pfkfb2	UTSW	1	130700796	missense	probably damaging	1.00
R7723:Pfkfb2	UTSW	1	130707588	missense	probably damaging	1.00
R8475:Pfkfb2	UTSW	1	130697079	missense	probably benign
R8704:Pfkfb2	UTSW	1	130698043	missense	probably benign	0.12
R8846:Pfkfb2	UTSW	1	130697911	missense	probably benign
R8884:Pfkfb2	UTSW	1	130706476	missense	probably damaging	0.96
R9033:Pfkfb2	UTSW	1	130698738	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAAACGGTTTCATCTTTGCCTC -3'
(R):5'- TTGAGCTTCCTCTTGATGGC -3'

Sequencing Primer
(F):5'- CATCTTTGCCTCTTGGAAATAAAGAG -3'
(R):5'- GAGCTTCCTCTTGATGGCTTTTC -3'

Posted On

2014-10-01