Incidental Mutation 'R7723:Pfkfb2'
| ID |
595311 |
| 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 |
045779-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130635325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 79
(Y79N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050406]
[ENSMUST00000066863]
[ENSMUST00000169659]
[ENSMUST00000171479]
[ENSMUST00000185233]
[ENSMUST00000186777]
[ENSMUST00000186867]
[ENSMUST00000187089]
[ENSMUST00000188520]
[ENSMUST00000189167]
[ENSMUST00000189534]
[ENSMUST00000191301]
[ENSMUST00000191347]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050406
AA Change: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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 damaging
Transcript: ENSMUST00000187089
AA Change: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: ENSMUST00000188520
AA Change: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904
AA Change: Y79N
| 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: ENSMUST00000189167
AA Change: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140995
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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: ENSMUST00000191347
AA Change: Y79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: Y79N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Brinp3 |
C |
T |
1: 146,577,409 (GRCm39) |
T148I |
probably damaging |
Het |
| C1qa |
A |
T |
4: 136,623,744 (GRCm39) |
C153* |
probably null |
Het |
| Camkk1 |
G |
T |
11: 72,928,058 (GRCm39) |
R363L |
probably benign |
Het |
| Ccdc80 |
T |
G |
16: 44,946,798 (GRCm39) |
|
probably null |
Het |
| Cenpu |
T |
C |
8: 47,029,349 (GRCm39) |
S351P |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,741,837 (GRCm39) |
L1609F |
unknown |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,016,154 (GRCm39) |
I4F |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,475,236 (GRCm39) |
V93A |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,499,786 (GRCm39) |
M785L |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,223,954 (GRCm39) |
C598* |
probably null |
Het |
| Fer |
T |
C |
17: 64,203,273 (GRCm39) |
S68P |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,279,158 (GRCm39) |
T22I |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,945,415 (GRCm39) |
D278G |
possibly damaging |
Het |
| Kdm1a |
C |
T |
4: 136,285,060 (GRCm39) |
V520I |
probably benign |
Het |
| Lrrc4c |
G |
T |
2: 97,460,999 (GRCm39) |
V542L |
possibly damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,427 (GRCm39) |
T247A |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,717 (GRCm39) |
S4929G |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,822,324 (GRCm39) |
H428Q |
possibly damaging |
Het |
| Mink1 |
C |
G |
11: 70,503,736 (GRCm39) |
Q1183E |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,687,141 (GRCm39) |
P82L |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,320,784 (GRCm39) |
T102A |
probably damaging |
Het |
| Nup35 |
T |
C |
2: 80,486,375 (GRCm39) |
I230T |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,965,347 (GRCm39) |
T1644S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5j |
A |
T |
9: 39,867,920 (GRCm39) |
Y104N |
possibly damaging |
Het |
| Or13p10 |
A |
G |
4: 118,522,914 (GRCm39) |
S67G |
probably benign |
Het |
| Or2at4 |
A |
G |
7: 99,384,884 (GRCm39) |
Y178C |
possibly damaging |
Het |
| Or2l13b |
A |
T |
16: 19,349,358 (GRCm39) |
L104* |
probably null |
Het |
| Or5d44 |
A |
C |
2: 88,141,819 (GRCm39) |
V107G |
possibly damaging |
Het |
| Palld |
C |
T |
8: 62,164,492 (GRCm39) |
V400I |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,258 (GRCm39) |
V261A |
probably damaging |
Het |
| Pcdhb3 |
C |
A |
18: 37,435,565 (GRCm39) |
N510K |
probably damaging |
Het |
| Phc2 |
C |
T |
4: 128,616,882 (GRCm39) |
A385V |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,785,942 (GRCm39) |
T771A |
possibly damaging |
Het |
| Psmb6 |
T |
C |
11: 70,417,396 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,091,639 (GRCm39) |
T487A |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,788,298 (GRCm39) |
M595K |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,752 (GRCm39) |
V14D |
probably benign |
Het |
| Scn3b |
C |
A |
9: 40,199,693 (GRCm39) |
S203* |
probably null |
Het |
| Serinc1 |
G |
A |
10: 57,403,918 (GRCm39) |
P15L |
probably benign |
Het |
| Six2 |
A |
G |
17: 85,995,103 (GRCm39) |
I93T |
probably benign |
Het |
| Slco1a1 |
T |
A |
6: 141,854,795 (GRCm39) |
I619F |
probably damaging |
Het |
| Snx25 |
A |
C |
8: 46,491,516 (GRCm39) |
V858G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,441,572 (GRCm39) |
C1903Y |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,832,867 (GRCm39) |
I156N |
probably benign |
Het |
| Tasp1 |
G |
T |
2: 139,827,051 (GRCm39) |
T189K |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,936,851 (GRCm39) |
M1399K |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,278,232 (GRCm39) |
C1092F |
probably damaging |
Het |
| Tmem150a |
G |
A |
6: 72,336,057 (GRCm39) |
V215I |
probably damaging |
Het |
| Tmem176b |
C |
T |
6: 48,812,869 (GRCm39) |
V109I |
probably benign |
Het |
| Trav8d-1 |
T |
A |
14: 53,016,321 (GRCm39) |
I69K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,638,419 (GRCm39) |
L13954I |
probably damaging |
Het |
| Veph1 |
C |
A |
3: 66,113,093 (GRCm39) |
C237F |
possibly damaging |
Het |
| Vmn1r121 |
G |
A |
7: 20,832,119 (GRCm39) |
T107I |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,458,567 (GRCm39) |
M300I |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,673 (GRCm39) |
D1089G |
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 |
|
|
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 |
|
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'- CCATCCAACCTAAGCTGGTC -3'
(R):5'- GGTAGAACCTCAGCTCTTCTC -3'
Sequencing Primer
(F):5'- CAACCTAAGCTGGTCTTTCAATCTAG -3'
(R):5'- GGTAGAACCTCAGCTCTTCTCGTAAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation