Mutagenetix > Incidental Mutation

Incidental Mutation 'R5619:Pfkp'

439731

Institutional Source

Beutler Lab

Gene Symbol

Pfkp

Ensembl Gene

ENSMUSG00000021196

Gene Name

phosphofructokinase, platelet

Synonyms

PFK-C, 9330125N24Rik, 1200015H23Rik

MMRRC Submission

043278-MU

Accession Numbers

Essential gene?

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

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6629804-6698813 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 6648765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116523 (fasta)

Gene Model

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

AlphaFold

Q9WUA3

Predicted Effect

probably benign
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 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

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000154100

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgre1	T	G	17: 57,727,437 (GRCm39)	L456V	probably benign	Het
Adgrv1	C	T	13: 81,620,619 (GRCm39)	G3943R	probably damaging	Het
Akap9	A	G	5: 4,004,760 (GRCm39)		probably benign	Het
Atp1a2	T	A	1: 172,106,948 (GRCm39)	I791F	probably damaging	Het
BC004004	C	G	17: 29,501,703 (GRCm39)	P81A	probably damaging	Het
Brca2	C	A	5: 150,480,579 (GRCm39)	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,719,322 (GRCm39)	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,080,603 (GRCm39)	S445F	probably benign	Het
Comt	T	C	16: 18,230,469 (GRCm39)	E80G	probably damaging	Het
Coq7	T	C	7: 118,126,709 (GRCm39)		probably benign	Het
Coro7	C	A	16: 4,494,799 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,228 (GRCm39)	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,581 (GRCm39)	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885 (GRCm39)	I2193M	probably benign	Het
Eipr1	A	G	12: 28,917,078 (GRCm39)	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,778,469 (GRCm39)	H447Q	probably benign	Het
Galk2	A	T	2: 125,817,317 (GRCm39)	R369*	probably null	Het
Gli2	G	A	1: 118,764,485 (GRCm39)	A1222V	probably benign	Het
Golim4	T	A	3: 75,813,802 (GRCm39)	K141*	probably null	Het
Gtpbp3	G	T	8: 71,943,692 (GRCm39)		probably benign	Het
Gzmd	C	T	14: 56,367,224 (GRCm39)	A223T	probably benign	Het
Igf2r	T	C	17: 12,958,221 (GRCm39)	R151G	probably damaging	Het
Itga8	T	A	2: 12,270,139 (GRCm39)	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,304,919 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,602 (GRCm39)	Y198H	probably benign	Het
Klhl29	A	T	12: 5,190,587 (GRCm39)	M136K	probably benign	Het
Lipf	A	T	19: 33,944,292 (GRCm39)	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155 (GRCm39)	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,820,705 (GRCm39)		probably null	Het
Myo1a	T	A	10: 127,554,413 (GRCm39)	N794K	probably benign	Het
Nmrk1	T	C	19: 18,622,452 (GRCm39)	L177P	possibly damaging	Het
Noxa1	C	T	2: 24,975,988 (GRCm39)	E401K	probably damaging	Het
Or10g9b	T	A	9: 39,918,039 (GRCm39)	M69L	probably benign	Het
Or4f53	A	T	2: 111,087,856 (GRCm39)	Y132F	probably damaging	Het
Ostm1	T	A	10: 42,555,325 (GRCm39)	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,848,800 (GRCm39)	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,489,470 (GRCm39)	K276R	probably benign	Het
Pitpnm1	A	G	19: 4,153,270 (GRCm39)	D142G	probably damaging	Het
Pkp3	T	C	7: 140,668,419 (GRCm39)	L556P	probably damaging	Het
Plb1	C	A	5: 32,490,841 (GRCm39)	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,047,012 (GRCm39)	S770G	possibly damaging	Het
Polk	A	T	13: 96,620,064 (GRCm39)	I733N	probably damaging	Het
Potegl	T	C	2: 23,147,017 (GRCm39)		probably null	Het
Prkg2	C	A	5: 99,136,156 (GRCm39)	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,066,142 (GRCm39)	T189A	probably benign	Het
Raph1	T	C	1: 60,529,414 (GRCm39)		probably benign	Het
Rbm22	T	A	18: 60,693,899 (GRCm39)	M1K	probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnf186	T	A	4: 138,694,715 (GRCm39)	I85N	probably benign	Het
Ryr2	C	A	13: 11,723,088 (GRCm39)	R2517L	probably damaging	Het
Sec63	T	A	10: 42,665,378 (GRCm39)	Y103N	probably damaging	Het
Serpinb3a	G	A	1: 106,974,838 (GRCm39)	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,423,947 (GRCm39)	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Spata46	A	T	1: 170,136,490 (GRCm39)	I14F	probably damaging	Het
Speer4b	T	C	5: 27,703,815 (GRCm39)	H106R	possibly damaging	Het
Spint4	T	C	2: 164,542,761 (GRCm39)	L118P	probably benign	Het
Sptbn5	A	G	2: 119,880,613 (GRCm39)		noncoding transcript	Het
Tgfbr3	A	T	5: 107,288,380 (GRCm39)	I427N	probably benign	Het
Thbs2	C	A	17: 14,901,506 (GRCm39)	C491F	probably damaging	Het
Tmem232	T	A	17: 65,793,506 (GRCm39)	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,197 (GRCm39)	C585*	probably null	Het
Ttc13	A	T	8: 125,406,683 (GRCm39)		probably benign	Het
Tuba8	C	T	6: 121,202,854 (GRCm39)	A389V	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp25	A	G	16: 76,830,833 (GRCm39)	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,387,529 (GRCm39)	K681*	probably null	Het
Vmn2r88	A	G	14: 51,651,367 (GRCm39)	E235G	probably damaging	Het
Vps29	T	A	5: 122,492,511 (GRCm39)		probably benign	Het
Wdr1	A	C	5: 38,686,879 (GRCm39)	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,741,734 (GRCm39)	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,741,735 (GRCm39)	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,830,470 (GRCm39)	Y398H	probably damaging	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
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
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'- GAGCTAGTCTTGTGCTACATCTTG -3'
(R):5'- TGCTACAGAACTGAGATATGGG -3'

Sequencing Primer
(F):5'- GTGCTACATCTTGCTACCCTG -3'
(R):5'- CCAGTGGTGGGAAGAATGAATTCC -3'

Posted On

2016-11-08