Incidental Mutation 'R2278:Pfkp'
ID |
242921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkp
|
Ensembl Gene |
ENSMUSG00000021196 |
Gene Name |
phosphofructokinase, platelet |
Synonyms |
PFK-C, 9330125N24Rik, 1200015H23Rik |
MMRRC Submission |
040277-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.425)
|
Stock # |
R2278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
6629804-6698813 bp(-) (GRCm39) |
Type of Mutation |
splice site (1681 bp from exon) |
DNA Base Change (assembly) |
T to C
at 6669245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115313
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021614]
[ENSMUST00000136585]
[ENSMUST00000138703]
|
AlphaFold |
Q9WUA3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021614
AA Change: D246G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021614 Gene: ENSMUSG00000021196 AA Change: D246G
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 null
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: D246G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117030 Gene: ENSMUSG00000021196 AA Change: D246G
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,201,400 (GRCm39) |
D251G |
probably damaging |
Het |
Aqp3 |
T |
C |
4: 41,093,836 (GRCm39) |
D219G |
probably damaging |
Het |
Arhgef15 |
C |
A |
11: 68,842,517 (GRCm39) |
W404C |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
Bmp5 |
T |
A |
9: 75,683,830 (GRCm39) |
N152K |
possibly damaging |
Het |
Bpifb2 |
C |
T |
2: 153,720,399 (GRCm39) |
Q53* |
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,463,785 (GRCm39) |
V164A |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,749,234 (GRCm39) |
I1922T |
probably damaging |
Het |
Gnpat |
A |
G |
8: 125,603,659 (GRCm39) |
D179G |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,886,957 (GRCm39) |
Q188R |
probably benign |
Het |
Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
Ifi44 |
T |
C |
3: 151,438,025 (GRCm39) |
N421D |
probably benign |
Het |
Igdcc4 |
C |
T |
9: 65,038,025 (GRCm39) |
T801I |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,804,342 (GRCm39) |
S107P |
possibly damaging |
Het |
Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
Kcnk18 |
T |
C |
19: 59,223,926 (GRCm39) |
I357T |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,593,151 (GRCm39) |
R120* |
probably null |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Lypla1 |
T |
G |
1: 4,911,321 (GRCm39) |
|
probably null |
Het |
Mknk1 |
C |
T |
4: 115,732,690 (GRCm39) |
A306V |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,570 (GRCm39) |
S1245T |
possibly damaging |
Het |
Npas3 |
T |
A |
12: 53,687,285 (GRCm39) |
V122E |
possibly damaging |
Het |
Nrxn2 |
G |
C |
19: 6,531,883 (GRCm39) |
Q789H |
probably damaging |
Het |
Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
Or3a1 |
T |
C |
11: 74,225,991 (GRCm39) |
E22G |
probably benign |
Het |
Or5p69 |
T |
C |
7: 107,967,288 (GRCm39) |
V197A |
probably benign |
Het |
Or5w12 |
A |
G |
2: 87,502,289 (GRCm39) |
C141R |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,949,468 (GRCm39) |
V2369M |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,095,919 (GRCm39) |
I474M |
possibly damaging |
Het |
Psg22 |
C |
A |
7: 18,460,762 (GRCm39) |
Q464K |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,418,250 (GRCm39) |
S954N |
possibly damaging |
Het |
Rps27l |
T |
A |
9: 66,854,208 (GRCm39) |
D34E |
probably benign |
Het |
Sae1 |
A |
C |
7: 16,104,291 (GRCm39) |
L106R |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,913,257 (GRCm39) |
Q1553L |
probably benign |
Het |
Slc11a2 |
A |
G |
15: 100,307,962 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,203,159 (GRCm39) |
M556K |
probably benign |
Het |
Slk |
T |
G |
19: 47,608,188 (GRCm39) |
I380M |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tiam2 |
G |
A |
17: 3,477,495 (GRCm39) |
V573M |
probably damaging |
Het |
Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,501,081 (GRCm39) |
A106V |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,846,354 (GRCm39) |
M2141V |
probably benign |
Het |
Vwa5a |
T |
C |
9: 38,634,503 (GRCm39) |
Y143H |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,246,055 (GRCm39) |
C707* |
probably null |
Het |
Zfp668 |
A |
T |
7: 127,465,998 (GRCm39) |
N395K |
probably benign |
Het |
Znhit6 |
G |
T |
3: 145,281,991 (GRCm39) |
|
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 |
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'- GCAACATCAGCCTACACTGG -3'
(R):5'- ATAGCTGTCAAAGGTTGTCTCTG -3'
Sequencing Primer
(F):5'- TGGCAGATCCTTGCCAACAG -3'
(R):5'- CAAAGGTTGTCTCTGGTCATAAG -3'
|
Posted On |
2014-10-16 |