Incidental Mutation 'R9198:Pfkfb3'
| ID |
698022 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11476241-11558882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11491084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 170
(R170K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028114]
[ENSMUST00000049849]
[ENSMUST00000100411]
[ENSMUST00000114844]
[ENSMUST00000114845]
[ENSMUST00000114846]
[ENSMUST00000170196]
[ENSMUST00000192949]
[ENSMUST00000171188]
[ENSMUST00000179584]
[ENSMUST00000183869]
[ENSMUST00000191668]
[ENSMUST00000195779]
|
| AlphaFold |
A7UAK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028114
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028114
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000049849
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050926
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000100411
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097979
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000114844
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110493
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000114845
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110494
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000114846
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110495
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 |
probably damaging
Transcript: ENSMUST00000170196
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126305
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000192949
AA Change: R170K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142296
Gene: ENSMUSG00000026773
AA Change: R170K
| 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 damaging
Transcript: ENSMUST00000171188
AA Change: R190K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129122
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 |
probably damaging
Transcript: ENSMUST00000179584
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137130
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000183869
AA Change: R190K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138893
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000191668
AA Change: R190K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142079
Gene: ENSMUSG00000026773
AA Change: R190K
| 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 damaging
Transcript: ENSMUST00000195779
AA Change: R186K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141445
Gene: ENSMUSG00000026773
AA Change: R186K
| 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 |
|
| Meta Mutation Damage Score |
0.8840 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
97% (61/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,583 (GRCm39) |
|
probably null |
Het |
| Adamts9 |
A |
T |
6: 92,837,170 (GRCm39) |
S1164T |
probably benign |
Het |
| Bcat1 |
A |
T |
6: 144,985,222 (GRCm39) |
I140N |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,957,129 (GRCm39) |
T2832A |
probably benign |
Het |
| Brca2 |
A |
T |
5: 150,459,977 (GRCm39) |
E417D |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,831,268 (GRCm39) |
D558G |
possibly damaging |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpf |
G |
T |
1: 189,388,987 (GRCm39) |
T1615K |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,830,354 (GRCm39) |
|
probably null |
Het |
| Clec4d |
T |
C |
6: 123,251,757 (GRCm39) |
F213S |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 15,962,430 (GRCm39) |
R3255W |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,612 (GRCm39) |
D82G |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
| Dld |
A |
G |
12: 31,390,885 (GRCm39) |
V187A |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,655,477 (GRCm39) |
Y359N |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,570 (GRCm39) |
N2914S |
probably benign |
Het |
| Dpyd |
A |
T |
3: 118,553,303 (GRCm39) |
|
probably null |
Het |
| Fgl2 |
A |
C |
5: 21,577,920 (GRCm39) |
Q69P |
probably damaging |
Het |
| Gadd45gip1 |
A |
T |
8: 85,560,780 (GRCm39) |
I132F |
probably damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,743 (GRCm39) |
C332R |
probably damaging |
Het |
| Gm15737 |
A |
T |
6: 92,856,640 (GRCm39) |
E23V |
unknown |
Het |
| Gm5111 |
A |
G |
6: 48,567,037 (GRCm39) |
H84R |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,355,619 (GRCm39) |
S991N |
probably benign |
Het |
| H2-M10.3 |
A |
G |
17: 36,678,919 (GRCm39) |
Y50H |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,005,621 (GRCm39) |
H740Y |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,351,872 (GRCm39) |
S860R |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,362,461 (GRCm39) |
T217S |
possibly damaging |
Het |
| Lrrc2 |
G |
T |
9: 110,791,722 (GRCm39) |
C158F |
probably benign |
Het |
| Lrrc30 |
T |
C |
17: 67,938,854 (GRCm39) |
D242G |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,133,854 (GRCm39) |
M1557L |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,924 (GRCm39) |
E594G |
probably damaging |
Het |
| Mfsd12 |
T |
C |
10: 81,198,544 (GRCm39) |
L345P |
probably damaging |
Het |
| Mmp24 |
A |
G |
2: 155,640,041 (GRCm39) |
R124G |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,406,797 (GRCm39) |
H240L |
unknown |
Het |
| Nmur1 |
T |
G |
1: 86,315,256 (GRCm39) |
D203A |
probably benign |
Het |
| Nt5c3 |
T |
C |
6: 56,859,955 (GRCm39) |
Q328R |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,232,850 (GRCm39) |
|
probably null |
Het |
| Or4k1 |
A |
T |
14: 50,377,990 (GRCm39) |
Y35* |
probably null |
Het |
| Or52ac1 |
T |
A |
7: 104,245,635 (GRCm39) |
Y251F |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,211 (GRCm39) |
W588* |
probably null |
Het |
| Pask |
A |
T |
1: 93,265,205 (GRCm39) |
S17T |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,069,937 (GRCm39) |
C960R |
unknown |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,524,163 (GRCm39) |
L451P |
probably damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,883,552 (GRCm39) |
E76V |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,015,557 (GRCm39) |
N818S |
probably benign |
Het |
| Ryk |
A |
T |
9: 102,758,854 (GRCm39) |
I248F |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,168 (GRCm39) |
Q661R |
possibly damaging |
Het |
| Siae |
T |
C |
9: 37,539,105 (GRCm39) |
V172A |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,377 (GRCm39) |
S9P |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,795,179 (GRCm39) |
E456G |
unknown |
Het |
| Srgap3 |
C |
T |
6: 112,743,865 (GRCm39) |
A458T |
probably damaging |
Het |
| Tgfbrap1 |
T |
A |
1: 43,093,799 (GRCm39) |
R564S |
probably damaging |
Het |
| Usp15 |
A |
G |
10: 123,004,143 (GRCm39) |
Y204H |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,962,276 (GRCm39) |
Y527H |
probably damaging |
Het |
| Usp8 |
T |
A |
2: 126,600,524 (GRCm39) |
*1092K |
probably null |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,987 (GRCm39) |
M545K |
probably benign |
Het |
| Ylpm1 |
A |
T |
12: 85,080,689 (GRCm39) |
|
probably null |
Het |
| Zscan22 |
G |
T |
7: 12,641,130 (GRCm39) |
R458L |
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 |
|
|
R2919:Pfkfb3
|
UTSW |
2 |
11,489,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CATTGAGAAAGAGACTCTGATACAG -3'
(R):5'- TCATATATGCTGGGCAGGATAC -3'
Sequencing Primer
(F):5'- CATGTTGCCAAAGGAGAGCATCTC -3'
(R):5'- TTCCAAGGTGACTCACCA -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation