Incidental Mutation 'R8475:Pfkfb2'
| ID |
657203 |
| 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 |
067919-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 130624816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 515
(Q515E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186867]
[ENSMUST00000187089]
[ENSMUST00000191347]
[ENSMUST00000188520]
[ENSMUST00000189167]
[ENSMUST00000189534]
[ENSMUST00000191301]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050406
|
| SMART Domains |
Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
| 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 benign
Transcript: ENSMUST00000066863
|
| SMART Domains |
Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
| 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: ENSMUST00000169659
|
| SMART Domains |
Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
| 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 benign
Transcript: ENSMUST00000185233
|
| SMART Domains |
Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
| 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: 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
AA Change: Q515E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: Q515E
| 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 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Adamts14 |
T |
C |
10: 61,038,666 (GRCm39) |
E945G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,871,976 (GRCm39) |
V958A |
probably benign |
Het |
| Adh6a |
T |
C |
3: 138,030,979 (GRCm39) |
I156T |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,624,863 (GRCm39) |
V201A |
possibly damaging |
Het |
| Als2cl |
C |
G |
9: 110,715,484 (GRCm39) |
A182G |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,241,819 (GRCm39) |
L295Q |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,448,664 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
G |
A |
2: 104,552,314 (GRCm39) |
R498C |
probably benign |
Het |
| Eogt |
A |
T |
6: 97,122,327 (GRCm39) |
Y35* |
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,150 (GRCm39) |
S886R |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,293,456 (GRCm39) |
D407E |
probably damaging |
Het |
| Gngt1 |
C |
A |
6: 3,994,262 (GRCm39) |
D13E |
probably benign |
Het |
| Grxcr1 |
T |
C |
5: 68,323,484 (GRCm39) |
L254P |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,327 (GRCm39) |
D290G |
probably damaging |
Het |
| Klf16 |
A |
G |
10: 80,412,719 (GRCm39) |
S106P |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,204 (GRCm39) |
D264G |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,977,369 (GRCm39) |
V1937M |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,862 (GRCm39) |
K118N |
probably benign |
Het |
| Manba |
G |
A |
3: 135,217,573 (GRCm39) |
V130I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,164 (GRCm39) |
S527G |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,271,281 (GRCm39) |
V656L |
probably damaging |
Het |
| Mrpl10 |
A |
T |
11: 96,938,261 (GRCm39) |
N137I |
probably benign |
Het |
| Mtfmt |
C |
A |
9: 65,359,469 (GRCm39) |
N381K |
probably benign |
Het |
| Myo18b |
A |
T |
5: 113,021,422 (GRCm39) |
Y546* |
probably null |
Het |
| Nectin4 |
C |
T |
1: 171,212,280 (GRCm39) |
R293* |
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,799,776 (GRCm39) |
S136P |
possibly damaging |
Het |
| Or14c39 |
A |
C |
7: 86,344,361 (GRCm39) |
R232S |
probably benign |
Het |
| Or1q1 |
G |
A |
2: 36,887,066 (GRCm39) |
M81I |
probably damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,586 (GRCm39) |
M37V |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,214,066 (GRCm39) |
M213V |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,536 (GRCm39) |
L27P |
probably damaging |
Het |
| Oxnad1 |
A |
G |
14: 31,823,250 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
G |
16: 13,425,113 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
T |
C |
18: 37,154,136 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pjvk |
T |
C |
2: 76,480,901 (GRCm39) |
F40L |
probably benign |
Het |
| Pygo2 |
A |
G |
3: 89,340,697 (GRCm39) |
Y328C |
probably damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,681,965 (GRCm39) |
K215Q |
probably damaging |
Het |
| Sephs1 |
T |
A |
2: 4,893,821 (GRCm39) |
|
probably null |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,566,107 (GRCm39) |
Y123H |
probably damaging |
Het |
| Tbx21 |
A |
T |
11: 96,990,808 (GRCm39) |
V290D |
possibly damaging |
Het |
| Tep1 |
C |
A |
14: 51,078,712 (GRCm39) |
G1514W |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,073 (GRCm39) |
M98T |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,150,455 (GRCm39) |
N474S |
probably benign |
Het |
| Zpbp |
T |
C |
11: 11,365,203 (GRCm39) |
K215E |
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 |
|
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'- ATTTCACAGCCGGCAAAGGAC -3'
(R):5'- AACCTAATTGTCCTTCACATGTGTC -3'
Sequencing Primer
(F):5'- GACTGTCGGGCTCCTCAAGTTC -3'
(R):5'- GTCCTTCACATGTGTCCTTTAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation