Incidental Mutation 'R6194:Pfkfb2'
ID |
502765 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
044334-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6194 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 130625624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 519
(*519Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140551
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186867]
[ENSMUST00000188520]
[ENSMUST00000189534]
[ENSMUST00000191301]
[ENSMUST00000189167]
[ENSMUST00000187089]
[ENSMUST00000191347]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000050406
AA Change: *498Q
|
SMART Domains |
Protein: ENSMUSP00000133073 Gene: ENSMUSG00000026409 AA Change: *498Q
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 null
Transcript: ENSMUST00000066863
AA Change: *519Q
|
SMART Domains |
Protein: ENSMUSP00000066426 Gene: ENSMUSG00000026409 AA Change: *519Q
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 null
Transcript: ENSMUST00000169659
AA Change: *519Q
|
SMART Domains |
Protein: ENSMUSP00000127587 Gene: ENSMUSG00000026409 AA Change: *519Q
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 benign
Transcript: ENSMUST00000171479
|
SMART Domains |
Protein: ENSMUSP00000129747 Gene: ENSMUSG00000026409
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 null
Transcript: ENSMUST00000185233
AA Change: *519Q
|
SMART Domains |
Protein: ENSMUSP00000140551 Gene: ENSMUSG00000026409 AA Change: *519Q
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 benign
Transcript: ENSMUST00000188520
|
SMART Domains |
Protein: ENSMUSP00000140786 Gene: ENSMUSG00000101904
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 benign
Transcript: ENSMUST00000189534
|
SMART Domains |
Protein: ENSMUSP00000140355 Gene: ENSMUSG00000026409
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 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189167
|
SMART Domains |
Protein: ENSMUSP00000140984 Gene: ENSMUSG00000026409
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 benign
Transcript: ENSMUST00000187089
|
SMART Domains |
Protein: ENSMUSP00000140612 Gene: ENSMUSG00000026409
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: ENSMUST00000191347
|
SMART Domains |
Protein: ENSMUSP00000140698 Gene: ENSMUSG00000026409
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031410I06Rik |
T |
C |
5: 26,309,033 (GRCm39) |
I90V |
probably benign |
Het |
Afap1l2 |
T |
A |
19: 56,911,383 (GRCm39) |
R370S |
probably damaging |
Het |
Alcam |
A |
G |
16: 52,088,761 (GRCm39) |
Y537H |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Asap1 |
A |
G |
15: 64,001,058 (GRCm39) |
S508P |
probably damaging |
Het |
Atg5 |
T |
C |
10: 44,170,612 (GRCm39) |
L86P |
probably damaging |
Het |
Atp13a5 |
G |
A |
16: 29,127,057 (GRCm39) |
P502S |
probably damaging |
Het |
AW209491 |
T |
A |
13: 14,811,705 (GRCm39) |
I186K |
possibly damaging |
Het |
Baz1b |
T |
C |
5: 135,272,744 (GRCm39) |
Y1354H |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,127,926 (GRCm39) |
S1157T |
unknown |
Het |
Chil6 |
A |
G |
3: 106,312,192 (GRCm39) |
|
probably null |
Het |
Chrna1 |
A |
G |
2: 73,400,816 (GRCm39) |
V238A |
probably benign |
Het |
Cluap1 |
A |
G |
16: 3,747,770 (GRCm39) |
S308G |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,602,061 (GRCm39) |
D1155G |
probably damaging |
Het |
Cptp |
A |
G |
4: 155,951,098 (GRCm39) |
F123L |
probably damaging |
Het |
Elapor1 |
T |
C |
3: 108,373,095 (GRCm39) |
I600V |
probably benign |
Het |
Fbxw2 |
G |
A |
2: 34,697,416 (GRCm39) |
T317I |
probably damaging |
Het |
Gc |
A |
T |
5: 89,589,438 (GRCm39) |
V197E |
probably benign |
Het |
Gusb |
C |
T |
5: 130,018,906 (GRCm39) |
V577M |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,795,228 (GRCm39) |
N2400K |
probably damaging |
Het |
Hnrnph1 |
T |
A |
11: 50,274,104 (GRCm39) |
D340E |
possibly damaging |
Het |
Hs3st1 |
C |
A |
5: 39,771,748 (GRCm39) |
K298N |
probably damaging |
Het |
Hunk |
A |
T |
16: 90,293,283 (GRCm39) |
T522S |
probably damaging |
Het |
Ifit3 |
T |
C |
19: 34,565,027 (GRCm39) |
F191S |
probably benign |
Het |
Ifnab |
T |
A |
4: 88,609,362 (GRCm39) |
K35* |
probably null |
Het |
Ifnab |
G |
T |
4: 88,609,363 (GRCm39) |
N34K |
probably damaging |
Het |
Ighmbp2 |
C |
A |
19: 3,312,003 (GRCm39) |
R917L |
possibly damaging |
Het |
Igkv13-84 |
C |
T |
6: 68,916,916 (GRCm39) |
A71V |
possibly damaging |
Het |
Irag1 |
T |
C |
7: 110,498,901 (GRCm39) |
N377D |
probably damaging |
Het |
Lim2 |
T |
A |
7: 43,085,086 (GRCm39) |
C159S |
probably damaging |
Het |
Lrrc56 |
T |
C |
7: 140,785,564 (GRCm39) |
Y147H |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,212,698 (GRCm39) |
L621P |
probably damaging |
Het |
Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
Mboat2 |
T |
A |
12: 24,996,637 (GRCm39) |
S213R |
probably benign |
Het |
Mmel1 |
T |
A |
4: 154,967,673 (GRCm39) |
C99* |
probably null |
Het |
Myo9a |
A |
G |
9: 59,777,033 (GRCm39) |
I1144V |
probably benign |
Het |
Naa15 |
A |
G |
3: 51,370,721 (GRCm39) |
T612A |
probably benign |
Het |
Naalad2 |
C |
T |
9: 18,262,443 (GRCm39) |
V362I |
probably benign |
Het |
Nbeal1 |
A |
T |
1: 60,296,643 (GRCm39) |
I1178F |
possibly damaging |
Het |
Nras |
C |
A |
3: 102,966,269 (GRCm39) |
A11E |
probably damaging |
Het |
Or13f5 |
T |
A |
4: 52,825,779 (GRCm39) |
C127* |
probably null |
Het |
Or56a3b |
G |
T |
7: 104,771,377 (GRCm39) |
V238L |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,199 (GRCm39) |
T112A |
probably damaging |
Het |
Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
Prodh |
A |
T |
16: 17,890,381 (GRCm39) |
H515Q |
probably benign |
Het |
Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
Rbks |
T |
C |
5: 31,824,234 (GRCm39) |
E87G |
probably benign |
Het |
Scyl1 |
G |
T |
19: 5,820,334 (GRCm39) |
Q167K |
possibly damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,762 (GRCm39) |
D222E |
probably benign |
Het |
Slc36a4 |
T |
A |
9: 15,638,172 (GRCm39) |
C199* |
probably null |
Het |
Slx1b |
C |
T |
7: 126,291,503 (GRCm39) |
R187H |
possibly damaging |
Het |
Stxbp5 |
A |
G |
10: 9,693,083 (GRCm39) |
F348L |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tfpt |
A |
T |
7: 3,632,026 (GRCm39) |
L28Q |
probably damaging |
Het |
Trap1 |
G |
A |
16: 3,872,664 (GRCm39) |
T335M |
possibly damaging |
Het |
Zcchc2 |
T |
A |
1: 105,918,847 (GRCm39) |
F110I |
probably damaging |
Het |
Zfp345 |
A |
T |
2: 150,314,551 (GRCm39) |
C329S |
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 |
IGL02490:Pfkfb2
|
APN |
1 |
130,628,589 (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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGGGTGACGTGTTTACACTAG -3'
(R):5'- TCACGTATGTGGTGTCCCTC -3'
Sequencing Primer
(F):5'- CGTGTTTACACTAGAGAATGGC -3'
(R):5'- GAGCCAAACCCCTGTAAGGATG -3'
|
Posted On |
2018-02-27 |