Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Pfkp'

503737

Institutional Source

Beutler Lab

Gene Symbol

Pfkp

Ensembl Gene

ENSMUSG00000021196

Gene Name

phosphofructokinase, platelet

Synonyms

PFK-C, 9330125N24Rik, 1200015H23Rik

MMRRC Submission

044349-MU

Accession Numbers

Essential gene?

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

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6629804-6698813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6669224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 253 (L253H)

Ref Sequence

ENSEMBL: ENSMUSP00000021614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021614] [ENSMUST00000136585] [ENSMUST00000138703]

AlphaFold

Q9WUA3

Predicted Effect

probably benign
Transcript: ENSMUST00000021614
AA Change: L253H

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

SMART Domains

Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: L253H

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

noncoding transcript
Transcript: ENSMUST00000135761

Predicted Effect

probably benign
Transcript: ENSMUST00000136585

SMART Domains

Protein: ENSMUSP00000115313
Gene: ENSMUSG00000021196

Domain	Start	End	E-Value	Type
Pfam:PFK	1	167	1.1e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137327

Predicted Effect

probably benign
Transcript: ENSMUST00000138703
AA Change: L253H

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

SMART Domains

Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: L253H

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: ENSMUST00000148999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151894

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,910 (GRCm39)	D488G	probably benign	Het
Adgrv1	C	A	13: 81,672,590 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alkbh3	G	A	2: 93,838,881 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,101,569 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,096,618 (GRCm39)	D425G	probably damaging	Het
Arid2	A	G	15: 96,254,790 (GRCm39)	D212G	probably benign	Het
Bbx	A	T	16: 50,071,751 (GRCm39)	S225T	probably benign	Het
Bivm	T	A	1: 44,166,028 (GRCm39)		probably null	Het
Bpifb3	A	G	2: 153,767,773 (GRCm39)	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,597,793 (GRCm39)	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,100,719 (GRCm39)	S36*	probably null	Het
Ccser2	A	G	14: 36,662,465 (GRCm39)	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,171,421 (GRCm39)	S348T	probably benign	Het
Ddx49	C	T	8: 70,749,934 (GRCm39)	G161D	probably damaging	Het
Dhx16	A	G	17: 36,193,864 (GRCm39)	E353G	possibly damaging	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Etv2	A	G	7: 30,334,036 (GRCm39)		probably null	Het
Extl1	T	C	4: 134,090,441 (GRCm39)	T345A	probably benign	Het
Fam163a	A	T	1: 155,954,741 (GRCm39)	S137T	probably benign	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742 (GRCm39)	C388R	probably damaging	Het
Galnt18	A	C	7: 111,112,757 (GRCm39)	V470G	probably benign	Het
Grin2b	T	A	6: 135,749,397 (GRCm39)	I602F	probably damaging	Het
Gucy1b1	G	T	3: 81,954,020 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,494,643 (GRCm39)	V151A	probably benign	Het
Hadhb	T	A	5: 30,379,929 (GRCm39)	D258E	probably benign	Het
Heatr1	C	T	13: 12,447,545 (GRCm39)	T1746I	probably benign	Het
Hrnr	T	C	3: 93,239,469 (GRCm39)	S3236P	unknown	Het
Kcnd1	G	C	X: 7,690,148 (GRCm39)	A23P	probably damaging	Homo
Kiz	C	A	2: 146,731,417 (GRCm39)	D302E	probably damaging	Het
Kng2	A	T	16: 22,806,343 (GRCm39)	W619R	probably damaging	Het
Mfap3l	C	A	8: 61,124,841 (GRCm39)	T361K	probably damaging	Het
Mlec	T	C	5: 115,288,376 (GRCm39)	H160R	probably benign	Het
Myo16	T	C	8: 10,365,494 (GRCm39)	L89P	probably benign	Het
Neb	T	C	2: 52,114,564 (GRCm39)	I4232V	probably benign	Het
Nf1	A	G	11: 79,302,433 (GRCm39)	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,347,867 (GRCm39)	F1942V	probably damaging	Het
Or2ag17	A	T	7: 106,389,665 (GRCm39)	I181N	probably benign	Het
Or4a70	C	A	2: 89,324,066 (GRCm39)	V197F	probably damaging	Het
Or4c11c	T	C	2: 88,661,655 (GRCm39)	S65P	probably damaging	Het
Or51a10	A	G	7: 103,698,902 (GRCm39)	Y220H	probably damaging	Het
Pabpc2	G	T	18: 39,907,772 (GRCm39)	A346S	probably damaging	Het
Paxip1	T	C	5: 27,971,171 (GRCm39)	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,864,981 (GRCm39)	T259S	probably benign	Het
Piezo1	T	C	8: 123,215,869 (GRCm39)	D1428G	probably benign	Het
Pkd1l2	T	G	8: 117,808,209 (GRCm39)	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,707,889 (GRCm39)		probably benign	Het
Ppfia4	T	C	1: 134,256,921 (GRCm39)	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,173,446 (GRCm39)	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,362,239 (GRCm39)	I381N	probably damaging	Het
Ptx3	T	A	3: 66,132,265 (GRCm39)	V262E	probably damaging	Het
Rab21	A	T	10: 115,130,831 (GRCm39)	H158Q	probably benign	Het
Rasa2	A	G	9: 96,426,357 (GRCm39)	S830P	probably damaging	Het
Rdh1	G	A	10: 127,600,622 (GRCm39)	S215N	probably benign	Het
Rhot1	G	A	11: 80,141,885 (GRCm39)	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Selenom	A	T	11: 3,464,915 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,308,947 (GRCm39)	C300R	probably damaging	Het
Skint1	T	A	4: 111,878,679 (GRCm39)	S204T	probably benign	Het
Ss18l1	A	G	2: 179,703,706 (GRCm39)	N313S	unknown	Het
Sycp2l	A	G	13: 41,295,200 (GRCm39)	D289G	probably damaging	Het
Terf1	C	T	1: 15,889,221 (GRCm39)	H188Y	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Trdn	A	G	10: 33,181,065 (GRCm39)	T357A	probably damaging	Het
Trip11	A	C	12: 101,856,859 (GRCm39)	M401R	probably benign	Het
Ubald2	A	C	11: 116,325,211 (GRCm39)	D26A	probably benign	Het
Ube2w	C	G	1: 16,689,508 (GRCm39)		probably benign	Het
Vmn2r101	T	A	17: 19,811,267 (GRCm39)	S450R	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
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
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'- TTCCAGCTGTCTCTGCATGG -3'
(R):5'- TCTGGTCATAAGTGGTACATAAGTGG -3'

Sequencing Primer
(F):5'- TGGCAGATCCTTGCCAACAG -3'
(R):5'- TACATAAGTGGAGCCTTGCAAGC -3'

Posted On

2018-02-27