Incidental Mutation 'R4650:Pfkfb2'
| ID |
351195 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130633200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 184
(N184K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186777]
[ENSMUST00000186867]
[ENSMUST00000187089]
[ENSMUST00000188520]
[ENSMUST00000189167]
[ENSMUST00000189534]
[ENSMUST00000191347]
[ENSMUST00000191301]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050406
AA Change: N184K
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: N184K
| 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 |
possibly damaging
Transcript: ENSMUST00000066863
AA Change: N184K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: N184K
| 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 |
possibly damaging
Transcript: ENSMUST00000169659
AA Change: N184K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: N184K
| 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 |
possibly damaging
Transcript: ENSMUST00000171479
AA Change: N184K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: N184K
| 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 |
possibly damaging
Transcript: ENSMUST00000185233
AA Change: N184K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: N184K
| 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: ENSMUST00000186777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187089
AA Change: N184K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: N184K
| 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: ENSMUST00000188520
AA Change: N184K
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904
AA Change: N184K
| 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
AA Change: N184K
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409
AA Change: N184K
| 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 |
possibly damaging
Transcript: ENSMUST00000189534
AA Change: N184K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: N184K
| 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: ENSMUST00000191347
AA Change: N184K
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: N184K
| 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: 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
T |
A |
16: 88,860,603 (GRCm39) |
Y77F |
unknown |
Het |
| 4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
| Aldoa |
A |
G |
7: 126,396,879 (GRCm39) |
S71P |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,893,266 (GRCm39) |
V979A |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,739,752 (GRCm39) |
T674A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,817,365 (GRCm39) |
M1232I |
probably benign |
Het |
| Capza1 |
A |
G |
3: 104,752,296 (GRCm39) |
V14A |
probably damaging |
Het |
| Cdk2 |
A |
T |
10: 128,538,364 (GRCm39) |
I135N |
probably damaging |
Het |
| Celf4 |
A |
T |
18: 25,629,302 (GRCm39) |
M407K |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cideb |
A |
G |
14: 55,992,688 (GRCm39) |
V76A |
possibly damaging |
Het |
| Dbpht2 |
C |
G |
12: 74,345,933 (GRCm39) |
|
noncoding transcript |
Het |
| Dis3l2 |
A |
G |
1: 86,918,043 (GRCm39) |
D550G |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,006,844 (GRCm39) |
|
probably null |
Het |
| Edc4 |
T |
A |
8: 106,619,307 (GRCm39) |
L1293* |
probably null |
Het |
| Elp5 |
A |
G |
11: 69,860,398 (GRCm39) |
V203A |
possibly damaging |
Het |
| Fndc7 |
T |
C |
3: 108,770,135 (GRCm39) |
N597S |
probably benign |
Het |
| Gjb3 |
T |
C |
4: 127,220,484 (GRCm39) |
Y16C |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,712 (GRCm39) |
D128G |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,363,025 (GRCm39) |
|
probably null |
Het |
| Gon4l |
G |
A |
3: 88,770,859 (GRCm39) |
D514N |
possibly damaging |
Het |
| Grhl3 |
T |
A |
4: 135,276,547 (GRCm39) |
|
probably null |
Het |
| Hoxc10 |
T |
C |
15: 102,875,698 (GRCm39) |
S136P |
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,940,655 (GRCm39) |
V107I |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
| Lgi4 |
G |
A |
7: 30,768,554 (GRCm39) |
A518T |
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,250,052 (GRCm39) |
N290K |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,013,734 (GRCm39) |
C1092S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,412 (GRCm39) |
I2450V |
probably benign |
Het |
| Mefv |
A |
G |
16: 3,535,682 (GRCm39) |
L82P |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,028,840 (GRCm39) |
L86P |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,977,270 (GRCm39) |
T333M |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,225,279 (GRCm39) |
N78D |
possibly damaging |
Het |
| Nmi |
C |
A |
2: 51,838,646 (GRCm39) |
C296F |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,181,895 (GRCm39) |
T1163S |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,181 (GRCm39) |
G369D |
possibly damaging |
Het |
| Ola1 |
T |
C |
2: 72,972,309 (GRCm39) |
T221A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,027 (GRCm39) |
D194G |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,699 (GRCm39) |
F168S |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,088 (GRCm39) |
V129A |
probably benign |
Het |
| Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
| Pth |
A |
T |
7: 112,985,026 (GRCm39) |
*116K |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
| Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
| Rwdd3 |
A |
G |
3: 120,952,826 (GRCm39) |
F55S |
probably damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,386,836 (GRCm39) |
L301F |
probably benign |
Het |
| Slc35e4 |
A |
G |
11: 3,862,677 (GRCm39) |
C171R |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,758,424 (GRCm39) |
I529K |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,277,532 (GRCm39) |
W370R |
probably damaging |
Het |
| Tmprss11e |
C |
A |
5: 86,875,212 (GRCm39) |
W18L |
probably damaging |
Het |
| Trpv1 |
A |
C |
11: 73,129,089 (GRCm39) |
E2A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,261,035 (GRCm39) |
I1799N |
probably damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,422 (GRCm39) |
C335Y |
possibly damaging |
Het |
| Vps37c |
C |
T |
19: 10,690,273 (GRCm39) |
S245L |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,745,537 (GRCm39) |
T1191A |
probably benign |
Het |
| Zfp13 |
A |
G |
17: 23,799,112 (GRCm39) |
L153P |
probably damaging |
Het |
| Zfp472 |
T |
G |
17: 33,196,631 (GRCm39) |
S235R |
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 |
|
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 |
|
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'- AACTCTGTTCTGTGAAATGATACAAA -3'
(R):5'- CACAGGACAGGATGAGAGTGCT -3'
Sequencing Primer
(F):5'- ACCCTCAGATCATGGTGT -3'
(R):5'- TCAGTGACTGGGGAATGCC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation