Incidental Mutation 'R2919:Pfkfb3'
| ID |
255400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pfkfb3
|
| Ensembl Gene |
ENSMUSG00000026773 |
| Gene Name |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
| Synonyms |
uPFK-2, E330010H22Rik |
| MMRRC Submission |
040504-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11476241-11558882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11489138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 286
(V286I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028114]
[ENSMUST00000049849]
[ENSMUST00000100411]
[ENSMUST00000114844]
[ENSMUST00000114845]
[ENSMUST00000114846]
[ENSMUST00000171188]
[ENSMUST00000170196]
[ENSMUST00000179584]
[ENSMUST00000183869]
[ENSMUST00000191668]
[ENSMUST00000192949]
[ENSMUST00000195779]
|
| AlphaFold |
A7UAK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028114
AA Change: V286I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.7e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049849
AA Change: V286I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.3e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
9.7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.9e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100411
AA Change: V286I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
5.8e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
219 |
9.6e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2.4e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114844
AA Change: V286I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
6.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
1.1e-8 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2.6e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114845
AA Change: V286I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.7e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114846
AA Change: V286I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.1e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
219 |
9e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.9e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150086
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171188
AA Change: V286I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.2e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
209 |
4.2e-8 |
PFAM |
|
Pfam:AAA_33
|
37 |
167 |
1.8e-9 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192844
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170196
AA Change: V286I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.4e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
9.9e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179584
AA Change: V286I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.3e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
225 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.5e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183869
AA Change: V286I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
2.3e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
225 |
7e-9 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
1.5e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191668
AA Change: V286I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: V286I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
24 |
246 |
3.6e-110 |
PFAM |
|
Pfam:KTI12
|
36 |
218 |
1e-8 |
PFAM |
|
Pfam:AAA_33
|
37 |
191 |
2.1e-10 |
PFAM |
|
PGAM
|
248 |
395 |
5.09e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192949
AA Change: V266I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: V266I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
3 |
226 |
1.9e-107 |
PFAM |
|
Pfam:KTI12
|
16 |
200 |
3.9e-6 |
PFAM |
|
Pfam:AAA_33
|
17 |
171 |
1.9e-8 |
PFAM |
|
PGAM
|
228 |
375 |
3.8e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195779
AA Change: V282I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: V282I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:6PF2K
|
3 |
159 |
1.3e-69 |
PFAM |
|
Pfam:KTI12
|
16 |
212 |
1.8e-6 |
PFAM |
|
Pfam:AAA_33
|
17 |
163 |
1.6e-9 |
PFAM |
|
Pfam:6PF2K
|
158 |
242 |
2.2e-32 |
PFAM |
|
Pfam:His_Phos_1
|
244 |
326 |
3.4e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191726
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of bifunctional proteins that are 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 (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before E8 [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
C |
T |
5: 146,122,001 (GRCm39) |
R27H |
probably benign |
Het |
| 2310002L09Rik |
A |
T |
4: 73,868,845 (GRCm39) |
L31Q |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,064,406 (GRCm39) |
D53N |
probably damaging |
Het |
| Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
| Als2cl |
A |
T |
9: 110,726,567 (GRCm39) |
|
probably null |
Het |
| Atg9b |
T |
A |
5: 24,596,542 (GRCm39) |
T125S |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,343 (GRCm39) |
D1472G |
probably damaging |
Het |
| Cd1d2 |
C |
G |
3: 86,894,987 (GRCm39) |
P158A |
probably damaging |
Het |
| Cdc45 |
A |
G |
16: 18,627,543 (GRCm39) |
I94T |
probably benign |
Het |
| Chd6 |
T |
G |
2: 160,809,800 (GRCm39) |
D1487A |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,947 (GRCm39) |
Y340C |
probably damaging |
Het |
| Fbxl12 |
C |
T |
9: 20,553,509 (GRCm39) |
R26H |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,021 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,711,958 (GRCm39) |
A425E |
possibly damaging |
Het |
| Kif1a |
A |
G |
1: 92,974,464 (GRCm39) |
Y964H |
probably damaging |
Het |
| Lrp1b |
A |
C |
2: 41,660,911 (GRCm39) |
C66G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,321,075 (GRCm39) |
I1034V |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mmrn2 |
T |
C |
14: 34,124,879 (GRCm39) |
V820A |
possibly damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
| Mroh9 |
A |
C |
1: 162,884,341 (GRCm39) |
M399R |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp2 |
G |
A |
5: 65,964,441 (GRCm39) |
G830D |
probably benign |
Het |
| Nagpa |
G |
A |
16: 5,021,651 (GRCm39) |
|
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,979,067 (GRCm39) |
V111M |
probably damaging |
Het |
| Or5g23 |
G |
A |
2: 85,438,754 (GRCm39) |
P167S |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,260,221 (GRCm39) |
|
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,350,924 (GRCm39) |
R323W |
possibly damaging |
Het |
| Pfkp |
C |
T |
13: 6,643,279 (GRCm39) |
G513D |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,112,108 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,582 (GRCm39) |
E1419G |
unknown |
Het |
| Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
| Sgk2 |
T |
G |
2: 162,841,115 (GRCm39) |
L175R |
probably damaging |
Het |
| Sgk2 |
C |
A |
2: 162,841,125 (GRCm39) |
F178L |
probably damaging |
Het |
| Sim1 |
T |
C |
10: 50,785,911 (GRCm39) |
Y255H |
probably benign |
Het |
| Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,534,886 (GRCm39) |
I163N |
probably damaging |
Het |
| Slc39a4 |
A |
G |
15: 76,500,870 (GRCm39) |
L31P |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Slfnl1 |
G |
T |
4: 120,390,275 (GRCm39) |
|
probably benign |
Het |
| Stradb |
G |
A |
1: 59,031,828 (GRCm39) |
V247M |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,289,967 (GRCm39) |
|
probably benign |
Het |
| Sult1d1 |
A |
G |
5: 87,707,614 (GRCm39) |
|
probably benign |
Het |
| Syk |
C |
T |
13: 52,765,157 (GRCm39) |
P95S |
probably benign |
Het |
| Taar2 |
T |
A |
10: 23,817,454 (GRCm39) |
N331K |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,117,587 (GRCm39) |
|
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,723,188 (GRCm39) |
|
probably null |
Het |
| Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,331,276 (GRCm39) |
C158S |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,988,548 (GRCm39) |
I310T |
probably benign |
Het |
| Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
| Xirp1 |
T |
C |
9: 119,847,767 (GRCm39) |
E372G |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,790 (GRCm39) |
E198G |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,160 (GRCm39) |
N44D |
probably damaging |
Het |
|
| Other mutations in Pfkfb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Pfkfb3
|
APN |
2 |
11,493,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01651:Pfkfb3
|
APN |
2 |
11,494,495 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02010:Pfkfb3
|
APN |
2 |
11,488,805 (GRCm39) |
missense |
probably benign |
|
|
IGL02546:Pfkfb3
|
APN |
2 |
11,493,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Pfkfb3
|
APN |
2 |
11,506,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1491:Pfkfb3
|
UTSW |
2 |
11,498,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2365:Pfkfb3
|
UTSW |
2 |
11,498,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2920:Pfkfb3
|
UTSW |
2 |
11,489,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4709:Pfkfb3
|
UTSW |
2 |
11,498,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Pfkfb3
|
UTSW |
2 |
11,491,123 (GRCm39) |
missense |
probably benign |
|
|
R4915:Pfkfb3
|
UTSW |
2 |
11,495,109 (GRCm39) |
nonsense |
probably null |
|
|
R5087:Pfkfb3
|
UTSW |
2 |
11,488,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Pfkfb3
|
UTSW |
2 |
11,491,162 (GRCm39) |
splice site |
probably benign |
|
|
R5244:Pfkfb3
|
UTSW |
2 |
11,489,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5488:Pfkfb3
|
UTSW |
2 |
11,489,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5573:Pfkfb3
|
UTSW |
2 |
11,506,483 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5619:Pfkfb3
|
UTSW |
2 |
11,489,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5757:Pfkfb3
|
UTSW |
2 |
11,485,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6015:Pfkfb3
|
UTSW |
2 |
11,486,146 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7495:Pfkfb3
|
UTSW |
2 |
11,487,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Pfkfb3
|
UTSW |
2 |
11,497,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7813:Pfkfb3
|
UTSW |
2 |
11,486,719 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8682:Pfkfb3
|
UTSW |
2 |
11,489,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8911:Pfkfb3
|
UTSW |
2 |
11,487,254 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9103:Pfkfb3
|
UTSW |
2 |
11,487,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Pfkfb3
|
UTSW |
2 |
11,491,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9423:Pfkfb3
|
UTSW |
2 |
11,487,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Pfkfb3
|
UTSW |
2 |
11,486,109 (GRCm39) |
missense |
probably benign |
|
|
R9682:Pfkfb3
|
UTSW |
2 |
11,491,058 (GRCm39) |
missense |
probably benign |
0.26 |
|
X0024:Pfkfb3
|
UTSW |
2 |
11,487,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCACCTCAAATAAAGGGG -3'
(R):5'- TGAGTGTGGCCTAGAAGTCG -3'
Sequencing Primer
(F):5'- AGGTTTCCAGAGAACCCATG -3'
(R):5'- CCTAGAAGTCGGAGGGTAGAGTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation