Incidental Mutation 'R9033:Pfkfb2'
ID |
687167 |
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 |
068862-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9033 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 130626475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 433
(K433*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186867]
[ENSMUST00000187089]
[ENSMUST00000188520]
[ENSMUST00000189167]
[ENSMUST00000189534]
[ENSMUST00000191301]
[ENSMUST00000191347]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000050406
AA Change: K412*
|
SMART Domains |
Protein: ENSMUSP00000133073 Gene: ENSMUSG00000026409 AA Change: K412*
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: K433*
|
SMART Domains |
Protein: ENSMUSP00000066426 Gene: ENSMUSG00000026409 AA Change: K433*
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: K433*
|
SMART Domains |
Protein: ENSMUSP00000127587 Gene: ENSMUSG00000026409 AA Change: K433*
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 null
Transcript: ENSMUST00000171479
AA Change: K433*
|
SMART Domains |
Protein: ENSMUSP00000129747 Gene: ENSMUSG00000026409 AA Change: K433*
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: K433*
|
SMART Domains |
Protein: ENSMUSP00000140551 Gene: ENSMUSG00000026409 AA Change: K433*
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 null
Transcript: ENSMUST00000187089
AA Change: K433*
|
SMART Domains |
Protein: ENSMUSP00000140612 Gene: ENSMUSG00000026409 AA Change: K433*
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 |
silent
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 |
silent
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 null
Transcript: ENSMUST00000189534
AA Change: K433*
|
SMART Domains |
Protein: ENSMUSP00000140355 Gene: ENSMUSG00000026409 AA Change: K433*
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 null
Transcript: ENSMUST00000191347
AA Change: K433*
|
SMART Domains |
Protein: ENSMUSP00000140698 Gene: ENSMUSG00000026409 AA Change: K433*
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: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
94% (30/32) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
G |
A |
6: 92,808,934 (GRCm39) |
G87D |
unknown |
Het |
Actg1 |
T |
C |
11: 120,237,826 (GRCm39) |
K238R |
probably benign |
Het |
Arhgef10l |
G |
A |
4: 140,321,463 (GRCm39) |
R115C |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,405,865 (GRCm39) |
F1584S |
probably damaging |
Het |
Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
Catsper1 |
G |
A |
19: 5,387,864 (GRCm39) |
|
probably null |
Het |
Chgb |
A |
C |
2: 132,634,914 (GRCm39) |
K285N |
probably damaging |
Het |
Csnk1g1 |
A |
G |
9: 65,915,070 (GRCm39) |
Y243C |
probably damaging |
Het |
Dpysl5 |
G |
T |
5: 30,948,941 (GRCm39) |
D399Y |
probably damaging |
Het |
Enam |
A |
G |
5: 88,646,475 (GRCm39) |
R259G |
probably benign |
Het |
Foxf2 |
C |
T |
13: 31,810,085 (GRCm39) |
P8L |
unknown |
Het |
Fpr1 |
C |
T |
17: 18,097,691 (GRCm39) |
W99* |
probably null |
Het |
Itprid2 |
A |
G |
2: 79,465,938 (GRCm39) |
S19G |
probably damaging |
Het |
Kansl1 |
A |
G |
11: 104,248,356 (GRCm39) |
S533P |
probably benign |
Het |
Klhl25 |
T |
A |
7: 75,516,681 (GRCm39) |
M529K |
probably damaging |
Het |
Mtss2 |
G |
A |
8: 111,465,651 (GRCm39) |
R697H |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,105,396 (GRCm39) |
V1515I |
probably benign |
Het |
Pcdh15 |
T |
C |
10: 74,302,138 (GRCm39) |
F926L |
probably damaging |
Het |
Pirb |
G |
C |
7: 3,720,584 (GRCm39) |
Q305E |
probably benign |
Het |
Pld5 |
T |
C |
1: 175,967,585 (GRCm39) |
D90G |
probably damaging |
Het |
Rergl |
T |
C |
6: 139,471,900 (GRCm39) |
Y83C |
probably damaging |
Het |
Rorb |
G |
A |
19: 18,965,422 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,236 (GRCm39) |
Q948R |
probably damaging |
Het |
Slc4a5 |
C |
T |
6: 83,237,457 (GRCm39) |
R147* |
probably null |
Het |
Tdpoz6 |
T |
C |
3: 93,600,168 (GRCm39) |
Y67C |
probably damaging |
Het |
Tdrd7 |
G |
T |
4: 46,007,468 (GRCm39) |
D507Y |
probably damaging |
Het |
Tspan31 |
C |
A |
10: 126,904,349 (GRCm39) |
|
probably benign |
Het |
Usp40 |
T |
C |
1: 87,923,499 (GRCm39) |
|
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,606,414 (GRCm39) |
Y311N |
probably benign |
Het |
Zbtb11 |
T |
A |
16: 55,818,492 (GRCm39) |
S639T |
probably benign |
Het |
Zfp52 |
T |
C |
17: 21,780,655 (GRCm39) |
F168L |
possibly 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 |
|
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 |
R9739:Pfkfb2
|
UTSW |
1 |
130,624,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAACGGTTTCATCTTTGCCTC -3'
(R):5'- TTGAGCTTCCTCTTGATGGC -3'
Sequencing Primer
(F):5'- CATCTTTGCCTCTTGGAAATAAAGAG -3'
(R):5'- GAGCTTCCTCTTGATGGCTTTTC -3'
|
Posted On |
2021-11-19 |