Incidental Mutation 'IGL02490:Pfkfb2'
ID |
295578 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pfkfb2
|
Ensembl Gene |
ENSMUSG00000026409 |
Gene Name |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 |
Synonyms |
4930568D07Rik, PFK-2/FBPase-2 gene B |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02490
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130628589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 339
(Y339F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186867]
[ENSMUST00000189167]
[ENSMUST00000188520]
[ENSMUST00000189534]
[ENSMUST00000191347]
[ENSMUST00000187089]
[ENSMUST00000191301]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050406
AA Change: Y339F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133073 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
8.1e-107 |
PFAM |
Pfam:KTI12
|
40 |
206 |
9.6e-8 |
PFAM |
Pfam:AAA_33
|
42 |
198 |
3.1e-9 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066863
AA Change: Y339F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066426 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
207 |
3.5e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.2e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169659
AA Change: Y339F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127587 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.3e-106 |
PFAM |
Pfam:KTI12
|
41 |
207 |
4.3e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.2e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171479
AA Change: Y339F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129747 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
208 |
3.7e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.1e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185233
AA Change: Y339F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140551 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
207 |
3.5e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.2e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186867
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189167
AA Change: Y339F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140984 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
6.3e-107 |
PFAM |
Pfam:KTI12
|
41 |
209 |
2.3e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
6.4e-11 |
PFAM |
PGAM
|
253 |
342 |
1.31e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188520
AA Change: Y339F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140786 Gene: ENSMUSG00000101904 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
6.3e-107 |
PFAM |
Pfam:KTI12
|
41 |
209 |
2.3e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
6.4e-11 |
PFAM |
PGAM
|
253 |
342 |
1.31e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189534
AA Change: Y339F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140355 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-106 |
PFAM |
Pfam:KTI12
|
41 |
208 |
3.7e-8 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.1e-10 |
PFAM |
PGAM
|
253 |
400 |
3.82e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191347
AA Change: Y339F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140698 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1.2e-103 |
PFAM |
Pfam:KTI12
|
41 |
207 |
2.4e-5 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.6e-8 |
PFAM |
PGAM
|
253 |
400 |
2.9e-20 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187089
AA Change: Y339F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140612 Gene: ENSMUSG00000026409 AA Change: Y339F
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
251 |
1e-103 |
PFAM |
Pfam:KTI12
|
41 |
207 |
2.3e-5 |
PFAM |
Pfam:AAA_33
|
42 |
199 |
1.4e-8 |
PFAM |
PGAM
|
253 |
400 |
2.9e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191301
|
SMART Domains |
Protein: ENSMUSP00000140995 Gene: ENSMUSG00000026409
Domain | Start | End | E-Value | Type |
Pfam:6PF2K
|
28 |
181 |
9.5e-70 |
PFAM |
Pfam:KTI12
|
41 |
183 |
3.2e-8 |
PFAM |
Pfam:AAA_33
|
42 |
184 |
1.1e-10 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D06Rik |
A |
G |
6: 89,078,559 (GRCm39) |
|
noncoding transcript |
Het |
Adam5 |
A |
T |
8: 25,271,720 (GRCm39) |
Y562* |
probably null |
Het |
Akr1d1 |
T |
C |
6: 37,535,423 (GRCm39) |
V269A |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,773,241 (GRCm39) |
T34A |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,226,652 (GRCm39) |
N232S |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,767 (GRCm39) |
V379I |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh13 |
A |
G |
8: 119,822,062 (GRCm39) |
D307G |
probably damaging |
Het |
Ces1h |
A |
G |
8: 94,083,627 (GRCm39) |
|
probably null |
Het |
Chchd6 |
T |
A |
6: 89,361,656 (GRCm39) |
H249L |
possibly damaging |
Het |
Clxn |
T |
A |
16: 14,734,810 (GRCm39) |
V60E |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,491,820 (GRCm39) |
V392A |
probably damaging |
Het |
Cwc15 |
A |
T |
9: 14,413,320 (GRCm39) |
D34V |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,527,446 (GRCm39) |
I264T |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,897,148 (GRCm39) |
D789G |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,291,635 (GRCm39) |
Y207N |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,268,106 (GRCm39) |
N960Y |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,359,817 (GRCm39) |
|
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,350,314 (GRCm39) |
C400* |
probably null |
Het |
Ftmt |
A |
C |
18: 52,464,760 (GRCm39) |
R25S |
probably benign |
Het |
Guca1b |
T |
C |
17: 47,700,190 (GRCm39) |
|
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,456,676 (GRCm39) |
K680N |
possibly damaging |
Het |
Hephl1 |
C |
A |
9: 14,964,981 (GRCm39) |
R1138L |
probably benign |
Het |
Il1rl2 |
T |
A |
1: 40,395,972 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
T |
11: 86,124,009 (GRCm39) |
I593K |
possibly damaging |
Het |
Iqcg |
T |
A |
16: 32,855,937 (GRCm39) |
K213* |
probably null |
Het |
Kif1b |
T |
A |
4: 149,288,665 (GRCm39) |
S1259C |
probably benign |
Het |
Klc1 |
C |
T |
12: 111,748,210 (GRCm39) |
T371M |
possibly damaging |
Het |
Loxl4 |
T |
C |
19: 42,593,269 (GRCm39) |
T301A |
probably benign |
Het |
Lrrc40 |
T |
C |
3: 157,768,336 (GRCm39) |
L497P |
probably damaging |
Het |
Masp2 |
C |
T |
4: 148,692,400 (GRCm39) |
R298W |
possibly damaging |
Het |
Myo5a |
A |
T |
9: 75,043,737 (GRCm39) |
Y242F |
probably damaging |
Het |
Nup98 |
A |
G |
7: 101,801,573 (GRCm39) |
V784A |
probably damaging |
Het |
Or5w15 |
T |
C |
2: 87,568,299 (GRCm39) |
Y123C |
probably damaging |
Het |
Osbpl1a |
G |
T |
18: 13,015,341 (GRCm39) |
|
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,334,922 (GRCm39) |
Y412C |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,550,241 (GRCm39) |
N172D |
probably damaging |
Het |
Plec |
T |
C |
15: 76,073,463 (GRCm39) |
Y517C |
probably damaging |
Het |
Plod2 |
G |
T |
9: 92,468,895 (GRCm39) |
A207S |
probably benign |
Het |
Plxdc1 |
A |
T |
11: 97,845,604 (GRCm39) |
D229E |
probably benign |
Het |
Ppp3cb |
A |
G |
14: 20,581,726 (GRCm39) |
|
probably null |
Het |
Procr |
T |
C |
2: 155,595,352 (GRCm39) |
L52P |
probably damaging |
Het |
Psme2b |
G |
T |
11: 48,836,946 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
G |
A |
15: 36,054,993 (GRCm39) |
A727V |
probably damaging |
Het |
Rock2 |
T |
A |
12: 16,998,564 (GRCm39) |
W277R |
probably damaging |
Het |
Rpl26 |
A |
G |
11: 68,795,216 (GRCm39) |
D112G |
probably damaging |
Het |
Rxfp1 |
C |
A |
3: 79,559,474 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
G |
A |
14: 56,135,798 (GRCm39) |
P98L |
probably damaging |
Het |
Sgms1 |
T |
C |
19: 32,137,543 (GRCm39) |
K8E |
probably damaging |
Het |
Stk31 |
T |
C |
6: 49,394,469 (GRCm39) |
V277A |
probably benign |
Het |
Trav15-1-dv6-1 |
A |
C |
14: 53,797,588 (GRCm39) |
E79A |
probably benign |
Het |
Ttll6 |
A |
T |
11: 96,047,546 (GRCm39) |
D715V |
possibly damaging |
Het |
Ush2a |
T |
C |
1: 188,542,561 (GRCm39) |
S3376P |
probably damaging |
Het |
Vmn2r109 |
T |
A |
17: 20,761,246 (GRCm39) |
T704S |
possibly damaging |
Het |
Zfp27 |
T |
A |
7: 29,594,360 (GRCm39) |
H535L |
possibly damaging |
Het |
Zfp609 |
A |
T |
9: 65,611,250 (GRCm39) |
V571D |
possibly damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,819 (GRCm39) |
Y288* |
probably null |
Het |
Zfp993 |
T |
C |
4: 146,742,074 (GRCm39) |
S133P |
probably damaging |
Het |
|
Other mutations in Pfkfb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01990:Pfkfb2
|
APN |
1 |
130,633,107 (GRCm39) |
splice site |
probably benign |
|
IGL02273:Pfkfb2
|
APN |
1 |
130,635,319 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02369:Pfkfb2
|
APN |
1 |
130,628,572 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02469:Pfkfb2
|
APN |
1 |
130,627,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R0080:Pfkfb2
|
UTSW |
1 |
130,642,279 (GRCm39) |
missense |
probably benign |
0.20 |
R0616:Pfkfb2
|
UTSW |
1 |
130,634,159 (GRCm39) |
splice site |
probably null |
|
R1458:Pfkfb2
|
UTSW |
1 |
130,635,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1490:Pfkfb2
|
UTSW |
1 |
130,625,626 (GRCm39) |
splice site |
probably null |
|
R1548:Pfkfb2
|
UTSW |
1 |
130,625,820 (GRCm39) |
missense |
probably benign |
|
R1554:Pfkfb2
|
UTSW |
1 |
130,634,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Pfkfb2
|
UTSW |
1 |
130,626,460 (GRCm39) |
missense |
probably benign |
0.00 |
R2144:Pfkfb2
|
UTSW |
1 |
130,626,460 (GRCm39) |
missense |
probably benign |
0.00 |
R2145:Pfkfb2
|
UTSW |
1 |
130,626,460 (GRCm39) |
missense |
probably benign |
0.00 |
R2212:Pfkfb2
|
UTSW |
1 |
130,635,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R2938:Pfkfb2
|
UTSW |
1 |
130,633,147 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4650:Pfkfb2
|
UTSW |
1 |
130,633,200 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4683:Pfkfb2
|
UTSW |
1 |
130,634,221 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5153:Pfkfb2
|
UTSW |
1 |
130,629,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Pfkfb2
|
UTSW |
1 |
130,627,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:Pfkfb2
|
UTSW |
1 |
130,635,816 (GRCm39) |
nonsense |
probably null |
|
R6194:Pfkfb2
|
UTSW |
1 |
130,625,624 (GRCm39) |
makesense |
probably null |
|
R6285:Pfkfb2
|
UTSW |
1 |
130,635,299 (GRCm39) |
nonsense |
probably null |
|
R6956:Pfkfb2
|
UTSW |
1 |
130,635,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R6971:Pfkfb2
|
UTSW |
1 |
130,628,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R7723:Pfkfb2
|
UTSW |
1 |
130,635,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R8475:Pfkfb2
|
UTSW |
1 |
130,624,816 (GRCm39) |
missense |
probably benign |
|
R8704:Pfkfb2
|
UTSW |
1 |
130,625,780 (GRCm39) |
missense |
probably benign |
0.12 |
R8846:Pfkfb2
|
UTSW |
1 |
130,625,648 (GRCm39) |
missense |
probably benign |
|
R8884:Pfkfb2
|
UTSW |
1 |
130,634,213 (GRCm39) |
missense |
probably damaging |
0.96 |
R9033:Pfkfb2
|
UTSW |
1 |
130,626,475 (GRCm39) |
nonsense |
probably null |
|
R9739:Pfkfb2
|
UTSW |
1 |
130,624,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |