Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Pfkfb3'

374620

Institutional Source

Beutler Lab

Gene Symbol

Pfkfb3

Ensembl Gene

ENSMUSG00000026773

Gene Name

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

Synonyms

uPFK-2, E330010H22Rik

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11476241-11558882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11491123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000141445 (fasta)

Gene Model

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

AlphaFold

A7UAK5

Predicted Effect

probably benign
Transcript: ENSMUST00000028114
AA Change: D177G

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

SMART Domains

Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: D177G

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: D177G

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

SMART Domains

Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: D177G

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: D177G

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

SMART Domains

Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: D177G

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: D177G

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

SMART Domains

Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: D177G

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: D177G

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

SMART Domains

Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: D177G

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: D177G

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

SMART Domains

Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: D177G

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

noncoding transcript
Transcript: ENSMUST00000192844

Predicted Effect

probably benign
Transcript: ENSMUST00000191668
AA Change: D177G

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

SMART Domains

Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: D177G

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

probably benign
Transcript: ENSMUST00000195779
AA Change: D173G

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

SMART Domains

Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: D173G

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

probably benign
Transcript: ENSMUST00000179584
AA Change: D177G

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

SMART Domains

Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: D177G

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: ENSMUST00000170196
AA Change: D177G

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

SMART Domains

Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: D177G

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: ENSMUST00000183869
AA Change: D177G

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

SMART Domains

Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: D177G

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: ENSMUST00000192949
AA Change: D157G

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

SMART Domains

Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: D157G

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: ENSMUST00000171188
AA Change: D177G

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

SMART Domains

Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: D177G

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

noncoding transcript
Transcript: ENSMUST00000191726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192827

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abcc12	T	A	8: 87,265,005 (GRCm39)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm39)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,367,723 (GRCm39)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,789,127 (GRCm39)	M238K	probably benign	Het
Clmn	A	T	12: 104,763,353 (GRCm39)	I91N	probably damaging	Het
Cog8	A	T	8: 107,776,806 (GRCm39)	L523H	probably damaging	Het
Cpxm2	T	A	7: 131,661,476 (GRCm39)	K437M	probably benign	Het
Dhx57	A	T	17: 80,560,540 (GRCm39)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,285,874 (GRCm39)		probably benign	Het
Dok3	G	A	13: 55,671,270 (GRCm39)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,941,687 (GRCm39)	H275Y	probably benign	Het
Ednra	A	T	8: 78,394,012 (GRCm39)	N361K	probably damaging	Het
Ei24	A	T	9: 36,695,861 (GRCm39)	S210R	probably damaging	Het
Erich3	T	A	3: 154,470,441 (GRCm39)	V158E	unknown	Het
Fam193a	T	A	5: 34,623,549 (GRCm39)	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,699,654 (GRCm39)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 27,785,769 (GRCm39)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,562,930 (GRCm39)		probably benign	Het
Fnip1	G	A	11: 54,406,382 (GRCm39)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,202,712 (GRCm39)	K289R	probably null	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,701,797 (GRCm39)	V116A	probably benign	Het
Gm10770	T	A	2: 150,020,816 (GRCm39)	K234*	probably null	Het
Gm9887	A	G	12: 69,418,763 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,316,577 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,677,528 (GRCm39)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,537,142 (GRCm39)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,528,057 (GRCm39)	A611V	probably damaging	Het
Hr	T	C	14: 70,809,412 (GRCm39)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,485,164 (GRCm39)	S388P	probably damaging	Het
Itga3	T	A	11: 94,952,793 (GRCm39)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,556,346 (GRCm39)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,486,403 (GRCm39)	S132P	probably damaging	Het
Lama3	C	T	18: 12,672,850 (GRCm39)	A2481V	probably damaging	Het
Lama3	T	C	18: 12,631,735 (GRCm39)		probably benign	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lmcd1	T	C	6: 112,264,832 (GRCm39)		probably benign	Het
Lrrc14	T	A	15: 76,597,562 (GRCm39)		probably null	Het
Lypd8l	A	T	11: 58,503,338 (GRCm39)		probably null	Het
Map4k5	G	A	12: 69,865,212 (GRCm39)	P591L	probably benign	Het
Mapk13	C	A	17: 28,995,284 (GRCm39)	D168E	probably damaging	Het
Marf1	A	C	16: 13,950,529 (GRCm39)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,338,738 (GRCm39)		probably null	Het
Mical3	T	C	6: 121,010,748 (GRCm39)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,124,789 (GRCm39)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,965,473 (GRCm39)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,644,216 (GRCm39)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,283,464 (GRCm39)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,300,235 (GRCm39)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 19,783,521 (GRCm39)		probably null	Het
Nxpe3	A	T	16: 55,669,996 (GRCm39)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,489,434 (GRCm39)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,632,161 (GRCm39)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,901,334 (GRCm39)	L722P	probably benign	Het
Pde6a	A	T	18: 61,378,663 (GRCm39)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,828,583 (GRCm39)	S29T	probably benign	Het
Plcd4	A	G	1: 74,604,961 (GRCm39)		probably null	Het
Polr1g	T	A	7: 19,091,684 (GRCm39)	Q141L	probably damaging	Het
Pou2f2	A	G	7: 24,796,533 (GRCm39)		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,316,702 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,073,611 (GRCm39)		probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,805,103 (GRCm39)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,556 (GRCm39)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,328,243 (GRCm39)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,132,765 (GRCm39)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,066,100 (GRCm39)	M438V	probably benign	Het
Recql	T	G	6: 142,304,732 (GRCm39)		probably benign	Het
Rftn2	A	G	1: 55,211,198 (GRCm39)	V425A	probably benign	Het
Ror1	A	G	4: 100,267,001 (GRCm39)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,696,880 (GRCm39)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,210,828 (GRCm39)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,827,488 (GRCm39)	I268R	probably damaging	Het
Sin3b	G	A	8: 73,471,576 (GRCm39)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,719,649 (GRCm39)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,259,898 (GRCm39)	N481S	probably damaging	Het
Sos2	G	A	12: 69,686,928 (GRCm39)	T206I	probably benign	Het
Sp100	G	T	1: 85,632,724 (GRCm39)	A132S	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spata31d1c	T	A	13: 65,183,604 (GRCm39)	L382*	probably null	Het
Stard9	T	A	2: 120,531,341 (GRCm39)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,412,324 (GRCm39)	T286A	probably benign	Het
Tedc2	T	A	17: 24,436,910 (GRCm39)	K275M	probably damaging	Het
Ten1	A	T	11: 116,109,057 (GRCm39)	K242N	probably benign	Het
Thoc2l	A	T	5: 104,665,616 (GRCm39)	D46V	possibly damaging	Het
Tial1	C	T	7: 128,056,752 (GRCm39)	V1I	probably damaging	Het
Tle2	G	A	10: 81,424,725 (GRCm39)	R649H	possibly damaging	Het
Tmem178	A	G	17: 81,252,374 (GRCm39)	D86G	probably benign	Het
Trim29	T	A	9: 43,240,872 (GRCm39)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 41,950,132 (GRCm39)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,399,806 (GRCm39)	Q414H	possibly damaging	Het
Yars1	A	T	4: 129,083,675 (GRCm39)		probably benign	Het
Yipf4	A	G	17: 74,801,087 (GRCm39)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp426	T	C	9: 20,381,334 (GRCm39)	Y536C	probably damaging	Het
Zp2	T	G	7: 119,734,995 (GRCm39)	Y430S	probably damaging	Het

Other mutations in Pfkfb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Pfkfb3	APN	2	11,493,565 (GRCm39)	missense	probably damaging	1.00
IGL01651:Pfkfb3	APN	2	11,494,495 (GRCm39)	missense	probably damaging	0.97
IGL02010:Pfkfb3	APN	2	11,488,805 (GRCm39)	missense	probably benign
IGL02546:Pfkfb3	APN	2	11,493,589 (GRCm39)	missense	probably damaging	1.00
IGL03182:Pfkfb3	APN	2	11,506,474 (GRCm39)	missense	probably damaging	0.99
R1491:Pfkfb3	UTSW	2	11,498,747 (GRCm39)	missense	probably damaging	1.00
R2365:Pfkfb3	UTSW	2	11,498,713 (GRCm39)	critical splice donor site	probably null
R2919:Pfkfb3	UTSW	2	11,489,138 (GRCm39)	missense	probably benign	0.00
R2920:Pfkfb3	UTSW	2	11,489,138 (GRCm39)	missense	probably benign	0.00
R4709:Pfkfb3	UTSW	2	11,498,719 (GRCm39)	missense	probably damaging	1.00
R4915:Pfkfb3	UTSW	2	11,495,109 (GRCm39)	nonsense	probably null
R5087:Pfkfb3	UTSW	2	11,488,825 (GRCm39)	missense	probably damaging	1.00
R5109:Pfkfb3	UTSW	2	11,491,162 (GRCm39)	splice site	probably benign
R5244:Pfkfb3	UTSW	2	11,489,660 (GRCm39)	missense	probably damaging	1.00
R5488:Pfkfb3	UTSW	2	11,489,480 (GRCm39)	missense	probably benign	0.00
R5573:Pfkfb3	UTSW	2	11,506,483 (GRCm39)	missense	probably benign	0.28
R5619:Pfkfb3	UTSW	2	11,489,470 (GRCm39)	missense	probably benign	0.00
R5757:Pfkfb3	UTSW	2	11,485,141 (GRCm39)	missense	probably damaging	0.99
R6015:Pfkfb3	UTSW	2	11,486,146 (GRCm39)	critical splice acceptor site	probably null
R7495:Pfkfb3	UTSW	2	11,487,312 (GRCm39)	missense	probably damaging	1.00
R7688:Pfkfb3	UTSW	2	11,497,450 (GRCm39)	missense	probably damaging	1.00
R7813:Pfkfb3	UTSW	2	11,486,719 (GRCm39)	missense	probably benign	0.12
R8682:Pfkfb3	UTSW	2	11,489,144 (GRCm39)	missense	probably benign	0.00
R8911:Pfkfb3	UTSW	2	11,487,254 (GRCm39)	critical splice donor site	probably null
R9103:Pfkfb3	UTSW	2	11,487,381 (GRCm39)	missense	probably damaging	1.00
R9198:Pfkfb3	UTSW	2	11,491,084 (GRCm39)	missense	probably damaging	1.00
R9423:Pfkfb3	UTSW	2	11,487,276 (GRCm39)	missense	probably damaging	1.00
R9632:Pfkfb3	UTSW	2	11,486,109 (GRCm39)	missense	probably benign
R9682:Pfkfb3	UTSW	2	11,491,058 (GRCm39)	missense	probably benign	0.26
X0024:Pfkfb3	UTSW	2	11,487,366 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAAAGAGACTCTGATACAGCTATACA -3'
(R):5'- ACTTCCTGCTGACACCCATT -3'

Sequencing Primer
(F):5'- CATGTTGCCAAAGGAGAGCATCTC -3'
(R):5'- TATGCTGGGCAGGATACT -3'

Posted On

2016-03-17