Incidental Mutation 'IGL02273:Pfkfb2'
| ID |
287243 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130635319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 81
(R81C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186777]
[ENSMUST00000186867]
[ENSMUST00000188520]
[ENSMUST00000189167]
[ENSMUST00000189534]
[ENSMUST00000191301]
[ENSMUST00000187089]
[ENSMUST00000191347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050406
AA Change: R81C
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000066863
AA Change: R81C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000169659
AA Change: R81C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000171479
AA Change: R81C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000185233
AA Change: R81C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 |
possibly damaging
Transcript: ENSMUST00000188520
AA Change: R81C
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904
AA Change: R81C
| 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: ENSMUST00000189167
AA Change: R81C
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000189534
AA Change: R81C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000191301
AA Change: R81C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140995
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000187089
AA Change: R81C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 damaging
Transcript: ENSMUST00000191347
AA Change: R81C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: R81C
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,353,922 (GRCm39) |
E426G |
probably benign |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably 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 |
|
|
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 |
|
R9033:Pfkfb2
|
UTSW |
1 |
130,626,475 (GRCm39) |
nonsense |
probably null |
|
|
R9739:Pfkfb2
|
UTSW |
1 |
130,624,815 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation