Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Pfkp'

547222

Institutional Source

Beutler Lab

Gene Symbol

Pfkp

Ensembl Gene

ENSMUSG00000021196

Gene Name

phosphofructokinase, platelet

Synonyms

9330125N24Rik, 1200015H23Rik, PFK-C

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6579768-6648777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6581567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 151 (W151R)

Ref Sequence

ENSEMBL: ENSMUSP00000114439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021611] [ENSMUST00000021614] [ENSMUST00000138703] [ENSMUST00000142972] [ENSMUST00000154100] [ENSMUST00000222485]

AlphaFold

Q9WUA3

Predicted Effect

probably benign
Transcript: ENSMUST00000021611

SMART Domains

Protein: ENSMUSP00000021611
Gene: ENSMUSG00000021193

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	93	188	1.8e-7	PFAM
Pfam:Peptidase_M16_C	244	431	4.7e-27	PFAM
M16C_associated	504	752	2.8e-114	SMART
Pfam:Peptidase_M16_C	771	958	2.8e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000021614
AA Change: W750R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021614
Gene: ENSMUSG00000021196
AA Change: W750R

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 damaging
Transcript: ENSMUST00000138703
AA Change: W750R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117030
Gene: ENSMUSG00000021196
AA Change: W750R

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

probably damaging
Transcript: ENSMUST00000142972
AA Change: W151R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114439
Gene: ENSMUSG00000021196
AA Change: W151R

Domain	Start	End	E-Value	Type
PDB:4OMT\|A	1	179	2e-68	PDB
SCOP:d1pfka_	2	158	7e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154100

Predicted Effect

probably benign
Transcript: ENSMUST00000222485

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	T	1: 37,612,280	D1169N	possibly damaging	Het
Ankrd6	T	A	4: 32,815,260	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,928,677	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,733,321	K1066*	probably null	Het
Ckap5	T	C	2: 91,577,601	I824T	probably benign	Het
Ctbp2	T	C	7: 133,015,102	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,470,494		probably benign	Het
Eya1	T	A	1: 14,231,410		probably null	Het
Fam105a	A	G	15: 27,657,235		probably benign	Het
Fam207a	T	C	10: 77,514,392	D35G	possibly damaging	Het
Fat4	G	C	3: 39,010,810	A4972P	probably benign	Het
Fat4	C	T	3: 39,010,811	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,267,015	M1K	probably null	Het
Glyat	T	C	19: 12,650,265	S75P	probably benign	Het
Gm3543	T	A	14: 41,980,066	I154F	probably damaging	Het
Gm4565	T	A	7: 22,583,370	M8L	probably benign	Het
Gpr179	T	C	11: 97,349,790	Q269R	probably benign	Het
Hfe2	C	A	3: 96,527,474	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,538,901	H483R	possibly damaging	Het
Il25	G	A	14: 54,933,158	A63T	probably benign	Het
Krt27	T	A	11: 99,346,814	N366I	probably benign	Het
Mfge8	A	G	7: 79,142,520	V219A	probably benign	Het
Nrbp1	T	C	5: 31,249,946	V373A	probably damaging	Het
Olfr1186	A	G	2: 88,526,486	N301S	probably benign	Het
Pcdh20	A	G	14: 88,469,171	I231T	probably damaging	Het
Pikfyve	T	C	1: 65,246,854	I1084T	probably benign	Het
Poteg	T	C	8: 27,449,895	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,346	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,312,802	D358G	probably damaging	Het
Snapc4	A	G	2: 26,369,953	S495P	probably damaging	Het
Surf6	A	G	2: 26,899,356	I123T	probably damaging	Het
Sybu	A	T	15: 44,677,695	S324T	possibly damaging	Het
Trim3	A	T	7: 105,618,214	S319R	probably damaging	Het
Trmt11	A	G	10: 30,590,934	F72L	probably benign	Het
Tsks	C	T	7: 44,943,792	R61W	probably damaging	Het
Ube2k	T	C	5: 65,581,429	V36A	possibly damaging	Het
Ube3a	T	C	7: 59,288,413	V688A	probably damaging	Het
Vegfc	A	G	8: 54,157,045	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 12,041,834	R179Q	probably benign	Het
Vmn2r97	T	A	17: 18,914,367	F16I	probably benign	Het
Zfp451	A	T	1: 33,802,167		probably benign	Het
Zfp600	C	T	4: 146,195,322	Q187*	probably null	Het

Other mutations in Pfkp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Pfkp	APN	13	6619550	missense	probably damaging	1.00
IGL00983:Pfkp	APN	13	6581567	missense	probably damaging	1.00
IGL01099:Pfkp	APN	13	6603390	splice site	probably benign
IGL01825:Pfkp	APN	13	6620978	missense	probably damaging	1.00
IGL02164:Pfkp	APN	13	6597915	missense	probably damaging	1.00
IGL02331:Pfkp	APN	13	6597960	missense	probably benign	0.33
IGL02680:Pfkp	APN	13	6600672	unclassified	probably benign
IGL02852:Pfkp	APN	13	6605023	missense	possibly damaging	0.57
R0414:Pfkp	UTSW	13	6593210	missense	probably benign	0.03
R0542:Pfkp	UTSW	13	6621992	nonsense	probably null
R0612:Pfkp	UTSW	13	6605634	critical splice donor site	probably null
R0767:Pfkp	UTSW	13	6605012	missense	probably damaging	0.98
R1417:Pfkp	UTSW	13	6605719	missense	probably benign	0.00
R1534:Pfkp	UTSW	13	6619538	missense	probably damaging	1.00
R1612:Pfkp	UTSW	13	6588589	missense	probably damaging	1.00
R2278:Pfkp	UTSW	13	6619209	splice site	probably null
R2919:Pfkp	UTSW	13	6593243	missense	probably damaging	0.98
R2996:Pfkp	UTSW	13	6635930	missense	probably benign	0.01
R4214:Pfkp	UTSW	13	6619225	missense	probably damaging	0.99
R4374:Pfkp	UTSW	13	6620989	missense	probably damaging	1.00
R4693:Pfkp	UTSW	13	6600635	missense	possibly damaging	0.91
R5534:Pfkp	UTSW	13	6648583	missense	probably damaging	1.00
R5537:Pfkp	UTSW	13	6619242	missense	probably damaging	1.00
R5619:Pfkp	UTSW	13	6598729	unclassified	probably benign
R5677:Pfkp	UTSW	13	6588595	missense	probably damaging	1.00
R6038:Pfkp	UTSW	13	6597969	missense	probably benign	0.14
R6038:Pfkp	UTSW	13	6597969	missense	probably benign	0.14
R6216:Pfkp	UTSW	13	6619188	missense	probably benign	0.00
R6330:Pfkp	UTSW	13	6585250	unclassified	probably benign
R6676:Pfkp	UTSW	13	6586539	missense	possibly damaging	0.74
R7146:Pfkp	UTSW	13	6602781	missense	probably benign	0.00
R7193:Pfkp	UTSW	13	6593216	missense	probably benign	0.00
R7588:Pfkp	UTSW	13	6648637	missense	possibly damaging	0.81
R7611:Pfkp	UTSW	13	6605083	critical splice acceptor site	probably null
R7821:Pfkp	UTSW	13	6597872	missense	probably damaging	1.00
R8196:Pfkp	UTSW	13	6605662	missense	probably benign	0.00
R8542:Pfkp	UTSW	13	6581521	missense	possibly damaging	0.56
R9028:Pfkp	UTSW	13	6605689	missense	probably damaging	0.98
R9338:Pfkp	UTSW	13	6584688	missense	probably damaging	1.00
Z1177:Pfkp	UTSW	13	6619252	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ATGCTTGCTTCCATAAAGTGCTG -3'
(R):5'- GGGCCCTAGGTTTAATCTCTAGTG -3'

Sequencing Primer
(F):5'- GCTTCCATAAAGTGCTGATAAATAAC -3'
(R):5'- CATAATACACTGGATATGGCGGTCC -3'

Posted On

2019-05-13