Mutagenetix > Incidental Mutation

Incidental Mutation 'R4693:Pfkp'

355059

Institutional Source

Beutler Lab

Gene Symbol

Pfkp

Ensembl Gene

ENSMUSG00000021196

Gene Name

phosphofructokinase, platelet

Synonyms

PFK-C, 9330125N24Rik, 1200015H23Rik

MMRRC Submission

041944-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R4693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6629804-6698813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6650671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 467 (G467D)

Ref Sequence

ENSEMBL: ENSMUSP00000117030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000138703] [ENSMUST00000154100]

AlphaFold

Q9WUA3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021614
AA Change: G467D

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: G467D

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:PFK	25	332	4.7e-114	PFAM
Pfam:PFK	411	696	1.2e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133041

SMART Domains

Protein: ENSMUSP00000123662
Gene: ENSMUSG00000021196

Domain	Start	End	E-Value	Type
Pfam:PFK	1	66	4.4e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138703
AA Change: G467D

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: G467D

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:PFK	24	334	6.7e-136	PFAM
Pfam:PFK	410	698	1.1e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151894

Predicted Effect

probably benign
Transcript: ENSMUST00000154100

Meta Mutation Damage Score

0.4235

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 85,004,125 (GRCm39)	Y478H	probably damaging	Het
Adar	A	T	3: 89,643,247 (GRCm39)	H128L	probably damaging	Het
Angptl6	G	T	9: 20,786,598 (GRCm39)	D349E	probably damaging	Het
Anxa9	T	C	3: 95,204,667 (GRCm39)	T286A	probably benign	Het
Apobr	A	G	7: 126,186,019 (GRCm39)	N510S	probably damaging	Het
Atoh7	G	T	10: 62,936,275 (GRCm39)	R114L	probably benign	Het
Bank1	C	G	3: 135,953,437 (GRCm39)	R106P	probably damaging	Het
Best1	C	T	19: 9,974,499 (GRCm39)	G15D	probably damaging	Het
Best2	A	T	8: 85,737,832 (GRCm39)	F188I	probably damaging	Het
Ccdc88a	T	C	11: 29,432,241 (GRCm39)	Y344H	probably damaging	Het
Col6a5	A	G	9: 105,814,371 (GRCm39)	L547P	unknown	Het
Cyp19a1	A	T	9: 54,080,617 (GRCm39)	S247T	possibly damaging	Het
Cyp26a1	T	C	19: 37,686,925 (GRCm39)	S126P	probably benign	Het
Dab1	G	T	4: 104,536,750 (GRCm39)	C180F	probably damaging	Het
Dclk2	T	C	3: 86,722,400 (GRCm39)	D412G	possibly damaging	Het
Dspp	A	T	5: 104,325,928 (GRCm39)	S764C	unknown	Het
Dync1li1	C	A	9: 114,535,166 (GRCm39)	D143E	probably damaging	Het
Esm1	A	T	13: 113,346,594 (GRCm39)	D73V	probably damaging	Het
Etfdh	A	T	3: 79,513,110 (GRCm39)	V431E	probably damaging	Het
Fam83c	C	T	2: 155,672,154 (GRCm39)	R427H	probably damaging	Het
Galnt9	A	G	5: 110,763,375 (GRCm39)	Y93C	probably damaging	Het
Gm6818	G	A	7: 38,100,126 (GRCm39)		noncoding transcript	Het
Gosr2	A	G	11: 103,574,755 (GRCm39)	S114P	probably benign	Het
Grip1	G	A	10: 119,836,459 (GRCm39)	V444I	probably benign	Het
Gvin-ps3	T	G	7: 105,681,585 (GRCm39)		noncoding transcript	Het
Haus4	G	T	14: 54,787,256 (GRCm39)	A67E	probably benign	Het
Hectd2	T	A	19: 36,591,738 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,695 (GRCm39)	Y911H	probably benign	Het
Lim2	T	C	7: 43,080,105 (GRCm39)	Y31H	probably damaging	Het
Lims2	G	A	18: 32,077,552 (GRCm39)	R101H	probably benign	Het
Lrrc2	T	A	9: 110,799,161 (GRCm39)	M236K	probably damaging	Het
Lrrc37	T	A	11: 103,510,686 (GRCm39)	E427D	unknown	Het
Lrrk1	T	C	7: 65,912,235 (GRCm39)	Y1775C	probably damaging	Het
Mdga2	A	G	12: 66,844,407 (GRCm39)	V197A	possibly damaging	Het
Mfhas1	T	A	8: 36,056,329 (GRCm39)	L268Q	probably damaging	Het
Mlh1	A	G	9: 111,084,726 (GRCm39)	I216T	probably damaging	Het
Mrc2	G	A	11: 105,234,528 (GRCm39)	C1016Y	probably benign	Het
Mvp	C	A	7: 126,597,500 (GRCm39)	V168F	probably damaging	Het
Mybphl	A	G	3: 108,282,494 (GRCm39)	T176A	probably benign	Het
Myt1	T	A	2: 181,437,532 (GRCm39)	L81Q	probably damaging	Het
Ncbp3	T	C	11: 72,966,503 (GRCm39)	L453S	probably benign	Het
Or4c1	T	A	2: 89,133,621 (GRCm39)	E105V	probably benign	Het
Or4c114	T	C	2: 88,905,412 (GRCm39)	T8A	possibly damaging	Het
Or55b10	T	A	7: 102,143,659 (GRCm39)	I108F	probably damaging	Het
Or5b125-ps1	C	A	19: 13,056,226 (GRCm39)		noncoding transcript	Het
Or5l14	A	T	2: 87,793,053 (GRCm39)	F61Y	probably benign	Het
Pak4	A	T	7: 28,263,674 (GRCm39)	M354K	probably damaging	Het
Pax3	T	C	1: 78,173,383 (GRCm39)	T2A	probably benign	Het
Pcdh17	A	G	14: 84,770,960 (GRCm39)	D1146G	probably damaging	Het
Pcyt1a	T	C	16: 32,289,042 (GRCm39)		probably benign	Het
Plin4	C	A	17: 56,410,762 (GRCm39)	G1090C	probably damaging	Het
Pth1r	A	G	9: 110,560,692 (GRCm39)	V25A	probably damaging	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Ptprf	T	A	4: 118,068,219 (GRCm39)	E1772D	probably benign	Het
Sall2	T	C	14: 52,551,935 (GRCm39)	H420R	probably damaging	Het
Sbds	G	A	5: 130,279,816 (GRCm39)	R63W	probably damaging	Het
Sccpdh	A	G	1: 179,495,975 (GRCm39)	T19A	possibly damaging	Het
Scn8a	A	T	15: 100,913,572 (GRCm39)	D988V	probably damaging	Het
Slamf6	C	T	1: 171,761,680 (GRCm39)	Q34*	probably null	Het
Slc22a6	T	A	19: 8,601,016 (GRCm39)	I403N	probably damaging	Het
Sox5	T	C	6: 143,781,042 (GRCm39)	Y574C	probably damaging	Het
Sptbn5	T	A	2: 119,889,897 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,137,716 (GRCm39)	V1022E	probably damaging	Het
Tbx3	G	A	5: 119,815,635 (GRCm39)	E292K	possibly damaging	Het
Tbx5	A	T	5: 119,979,964 (GRCm39)	H170L	probably damaging	Het
Tcf12	A	T	9: 71,776,249 (GRCm39)		probably benign	Het
Themis	G	A	10: 28,658,647 (GRCm39)	R558H	probably damaging	Het
Tiam1	T	C	16: 89,640,170 (GRCm39)	E849G	possibly damaging	Het
Vav3	A	G	3: 109,470,534 (GRCm39)		probably benign	Het
Vmn2r90	T	A	17: 17,953,956 (GRCm39)	C707S	possibly damaging	Het
Vmn2r96	T	G	17: 18,803,270 (GRCm39)	N201K	probably benign	Het
Zfp148	C	T	16: 33,288,505 (GRCm39)	R207C	probably damaging	Het
Zfp648	G	T	1: 154,080,152 (GRCm39)	A104S	probably benign	Het

Other mutations in Pfkp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Pfkp	APN	13	6,669,586 (GRCm39)	missense	probably damaging	1.00
IGL00983:Pfkp	APN	13	6,631,603 (GRCm39)	missense	probably damaging	1.00
IGL01099:Pfkp	APN	13	6,653,426 (GRCm39)	splice site	probably benign
IGL01825:Pfkp	APN	13	6,671,014 (GRCm39)	missense	probably damaging	1.00
IGL02164:Pfkp	APN	13	6,647,951 (GRCm39)	missense	probably damaging	1.00
IGL02331:Pfkp	APN	13	6,647,996 (GRCm39)	missense	probably benign	0.33
IGL02680:Pfkp	APN	13	6,650,708 (GRCm39)	unclassified	probably benign
IGL02852:Pfkp	APN	13	6,655,059 (GRCm39)	missense	possibly damaging	0.57
R0414:Pfkp	UTSW	13	6,643,246 (GRCm39)	missense	probably benign	0.03
R0542:Pfkp	UTSW	13	6,672,028 (GRCm39)	nonsense	probably null
R0612:Pfkp	UTSW	13	6,655,670 (GRCm39)	critical splice donor site	probably null
R0767:Pfkp	UTSW	13	6,655,048 (GRCm39)	missense	probably damaging	0.98
R1417:Pfkp	UTSW	13	6,655,755 (GRCm39)	missense	probably benign	0.00
R1534:Pfkp	UTSW	13	6,669,574 (GRCm39)	missense	probably damaging	1.00
R1612:Pfkp	UTSW	13	6,638,625 (GRCm39)	missense	probably damaging	1.00
R2278:Pfkp	UTSW	13	6,669,245 (GRCm39)	splice site	probably null
R2919:Pfkp	UTSW	13	6,643,279 (GRCm39)	missense	probably damaging	0.98
R2996:Pfkp	UTSW	13	6,685,966 (GRCm39)	missense	probably benign	0.01
R4214:Pfkp	UTSW	13	6,669,261 (GRCm39)	missense	probably damaging	0.99
R4374:Pfkp	UTSW	13	6,671,025 (GRCm39)	missense	probably damaging	1.00
R5534:Pfkp	UTSW	13	6,698,619 (GRCm39)	missense	probably damaging	1.00
R5537:Pfkp	UTSW	13	6,669,278 (GRCm39)	missense	probably damaging	1.00
R5619:Pfkp	UTSW	13	6,648,765 (GRCm39)	unclassified	probably benign
R5677:Pfkp	UTSW	13	6,638,631 (GRCm39)	missense	probably damaging	1.00
R6038:Pfkp	UTSW	13	6,648,005 (GRCm39)	missense	probably benign	0.14
R6038:Pfkp	UTSW	13	6,648,005 (GRCm39)	missense	probably benign	0.14
R6216:Pfkp	UTSW	13	6,669,224 (GRCm39)	missense	probably benign	0.00
R6330:Pfkp	UTSW	13	6,635,286 (GRCm39)	unclassified	probably benign
R6676:Pfkp	UTSW	13	6,636,575 (GRCm39)	missense	possibly damaging	0.74
R7044:Pfkp	UTSW	13	6,631,603 (GRCm39)	missense	probably damaging	1.00
R7146:Pfkp	UTSW	13	6,652,817 (GRCm39)	missense	probably benign	0.00
R7193:Pfkp	UTSW	13	6,643,252 (GRCm39)	missense	probably benign	0.00
R7588:Pfkp	UTSW	13	6,698,673 (GRCm39)	missense	possibly damaging	0.81
R7611:Pfkp	UTSW	13	6,655,119 (GRCm39)	critical splice acceptor site	probably null
R7821:Pfkp	UTSW	13	6,647,908 (GRCm39)	missense	probably damaging	1.00
R8196:Pfkp	UTSW	13	6,655,698 (GRCm39)	missense	probably benign	0.00
R8542:Pfkp	UTSW	13	6,631,557 (GRCm39)	missense	possibly damaging	0.56
R9028:Pfkp	UTSW	13	6,655,725 (GRCm39)	missense	probably damaging	0.98
R9338:Pfkp	UTSW	13	6,634,724 (GRCm39)	missense	probably damaging	1.00
Z1177:Pfkp	UTSW	13	6,669,288 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ATCTACATGCAGCCACTCTC -3'
(R):5'- ACTAGTGTGGAACCCGACTTG -3'

Sequencing Primer
(F):5'- CCAGGTTTTGGTTCCCAGAAC -3'
(R):5'- GACTTGCAGCCTTACCCG -3'

Posted On

2015-10-21