Mutagenetix > Incidental Mutation

Incidental Mutation 'R0612:Pfkp'

54836

Institutional Source

Beutler Lab

Gene Symbol

Pfkp

Ensembl Gene

ENSMUSG00000021196

Gene Name

phosphofructokinase, platelet

Synonyms

PFK-C, 9330125N24Rik, 1200015H23Rik

MMRRC Submission

038801-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R0612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6629804-6698813 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 6655670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117030 (fasta)

Gene Model

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

AlphaFold

Q9WUA3

Predicted Effect

probably null
Transcript: ENSMUST00000021614

SMART Domains

Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196

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 null
Transcript: ENSMUST00000138703

SMART Domains

Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196

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

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,936,478 (GRCm39)	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,105,445 (GRCm39)	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,254,596 (GRCm39)	S30G	probably benign	Het
Atp9b	T	C	18: 80,797,171 (GRCm39)	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,710,425 (GRCm39)	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,946,537 (GRCm39)	V448I	probably damaging	Het
Cab39	T	C	1: 85,746,236 (GRCm39)		probably null	Het
Cacna2d4	G	T	6: 119,258,679 (GRCm39)		probably benign	Het
Capzb	C	T	4: 139,018,340 (GRCm39)	S253L	probably benign	Het
Ccdc174	A	G	6: 91,867,873 (GRCm39)		probably benign	Het
Ccdc180	C	T	4: 45,927,969 (GRCm39)	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,820,900 (GRCm39)		probably benign	Het
Cdh8	T	C	8: 100,127,546 (GRCm39)	T22A	probably benign	Het
Cdk10	T	C	8: 123,957,419 (GRCm39)	V181A	probably benign	Het
Ceacam15	A	C	7: 16,407,445 (GRCm39)	L24*	probably null	Het
Cftr	A	C	6: 18,198,125 (GRCm39)	T20P	probably benign	Het
Cip2a	C	T	16: 48,819,402 (GRCm39)	A112V	probably benign	Het
Clstn3	T	C	6: 124,426,459 (GRCm39)	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003 (GRCm39)	V165I	unknown	Het
Copg2	A	T	6: 30,838,404 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,178,929 (GRCm39)	H47R	probably benign	Het
Cytip	T	C	2: 58,024,202 (GRCm39)	D206G	possibly damaging	Het
Dcaf8l	G	A	X: 88,448,972 (GRCm39)	R386*	probably null	Het
Dnmt1	C	T	9: 20,829,489 (GRCm39)	E824K	probably damaging	Het
Dock7	A	C	4: 98,877,470 (GRCm39)	V442G	probably benign	Het
Dsc1	T	G	18: 20,247,573 (GRCm39)	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,582,930 (GRCm39)	P371L	probably damaging	Het
Enah	A	G	1: 181,734,013 (GRCm39)		probably benign	Het
Entrep2	C	T	7: 64,411,549 (GRCm39)	V395M	probably benign	Het
Fastkd1	T	C	2: 69,542,727 (GRCm39)	T27A	probably benign	Het
Fcho1	A	G	8: 72,168,168 (GRCm39)	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,028 (GRCm39)	V268D	probably damaging	Het
Fgd2	T	A	17: 29,597,321 (GRCm39)	V547E	probably benign	Het
Flnb	T	A	14: 7,887,682 (GRCm38)		probably benign	Het
Gabrg3	A	G	7: 56,379,454 (GRCm39)	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,376,802 (GRCm39)	F1265L	probably damaging	Het
Git2	A	G	5: 114,890,342 (GRCm39)	S271P	probably damaging	Het
Gorab	T	C	1: 163,224,738 (GRCm39)	D21G	possibly damaging	Het
Gpr179	T	A	11: 97,229,264 (GRCm39)	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,087,078 (GRCm39)	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,140,540 (GRCm39)	T149S	probably damaging	Het
Igsf8	G	T	1: 172,146,974 (GRCm39)	*108L	probably null	Het
Il1rap	C	T	16: 26,519,855 (GRCm39)	T307M	possibly damaging	Het
Itih2	T	C	2: 10,122,205 (GRCm39)	D232G	probably benign	Het
Jak3	A	G	8: 72,136,021 (GRCm39)	Y607C	probably damaging	Het
Kcnh1	C	T	1: 191,959,361 (GRCm39)	P305L	probably damaging	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,865,466 (GRCm39)	L177P	probably damaging	Het
Lypd8l	A	G	11: 58,502,799 (GRCm39)		probably null	Het
Map4k3	C	A	17: 80,909,622 (GRCm39)	K712N	probably damaging	Het
Med11	A	G	11: 70,342,910 (GRCm39)	T36A	probably benign	Het
Mmp14	A	G	14: 54,677,891 (GRCm39)	D504G	probably damaging	Het
Mob1a	A	G	6: 83,311,140 (GRCm39)	T120A	probably benign	Het
Mr1	T	A	1: 155,013,436 (GRCm39)	D47V	probably damaging	Het
Nacad	G	T	11: 6,551,382 (GRCm39)	A603E	possibly damaging	Het
Nwd1	T	A	8: 73,394,308 (GRCm39)	W524R	probably damaging	Het
Or11g26	A	T	14: 50,752,939 (GRCm39)	T93S	probably benign	Het
Or13a19	T	A	7: 139,903,101 (GRCm39)	M163K	possibly damaging	Het
Or4e1	T	C	14: 52,701,008 (GRCm39)	T153A	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pde6c	T	A	19: 38,121,694 (GRCm39)	C101S	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdlim4	G	A	11: 53,959,713 (GRCm39)	R16C	probably damaging	Het
Plcg2	T	A	8: 118,300,104 (GRCm39)	S225T	probably benign	Het
Pramel1	T	C	4: 143,124,101 (GRCm39)	S259P	probably damaging	Het
Pramel27	G	T	4: 143,578,658 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,301,227 (GRCm39)	N92D	possibly damaging	Het
Ric8b	C	A	10: 84,837,745 (GRCm39)	N517K	probably damaging	Het
Rnf34	G	A	5: 123,002,237 (GRCm39)	R65H	probably damaging	Het
Rraga	C	T	4: 86,494,564 (GRCm39)	R137C	probably damaging	Het
Scube2	C	T	7: 109,403,971 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,352,179 (GRCm39)	M339T	probably damaging	Het
Spata31d1d	T	C	13: 59,875,787 (GRCm39)	I583V	probably benign	Het
Suox	T	C	10: 128,506,525 (GRCm39)	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561 (GRCm39)		probably benign	Het
Tac1	T	C	6: 7,555,653 (GRCm39)	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,411,596 (GRCm39)	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,524,344 (GRCm39)	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,334,198 (GRCm39)	V662M	probably damaging	Het
Upf2	G	T	2: 6,038,909 (GRCm39)		probably benign	Het
Uspl1	A	G	5: 149,151,767 (GRCm39)	E989G	probably damaging	Het
Vmn1r58	T	C	7: 5,413,618 (GRCm39)	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,816,481 (GRCm39)	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,803 (GRCm39)	Q1240L	probably benign	Het
Xrcc1	C	T	7: 24,269,744 (GRCm39)		probably benign	Het
Yeats2	T	G	16: 20,005,175 (GRCm39)	V385G	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
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
R4693:Pfkp	UTSW	13	6,650,671 (GRCm39)	missense	possibly damaging	0.91
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'- GCCCAGGAAATCAATCTACGTCAGAA -3'
(R):5'- GACTGGTATAGCTCTGAAGGCAGACT -3'

Sequencing Primer
(F):5'- TCTACGTCAGAAAGTCTCAAAGG -3'
(R):5'- TGAGGCTGGTATAGCTCTGA -3'

Posted On

2013-07-11