Incidental Mutation 'R6285:Pfkfb2'
| ID |
508144 |
| 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 |
044455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130616919-130656990 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 130635299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 87
(Y87*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140698
(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 null
Transcript: ENSMUST00000050406
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000066863
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000169659
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000171479
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000185233
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000187089
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000188520
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000189167
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000189534
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000191301
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000140995
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 null
Transcript: ENSMUST00000191347
AA Change: Y87*
|
| SMART Domains |
Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409
AA Change: Y87*
| 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 |
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.9%
|
| Validation Efficiency |
100% (68/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
T |
3: 36,136,324 (GRCm39) |
M370L |
probably benign |
Het |
| Aimp1 |
A |
G |
3: 132,373,265 (GRCm39) |
M225T |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,824,950 (GRCm39) |
I809V |
possibly damaging |
Het |
| Bbs10 |
A |
G |
10: 111,135,622 (GRCm39) |
Y245C |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,520,157 (GRCm39) |
F1572Y |
probably damaging |
Het |
| Cd79a |
A |
G |
7: 24,598,772 (GRCm39) |
N107S |
possibly damaging |
Het |
| Cdc7 |
G |
A |
5: 107,130,925 (GRCm39) |
A428T |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,359,191 (GRCm39) |
T974A |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,829,120 (GRCm39) |
N261K |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,241,001 (GRCm39) |
D8V |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,952,185 (GRCm39) |
D571G |
probably damaging |
Het |
| Cpe |
A |
C |
8: 65,070,645 (GRCm39) |
V200G |
probably benign |
Het |
| Ctnnd1 |
C |
T |
2: 84,444,231 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
A |
C |
5: 36,772,921 (GRCm39) |
C491W |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,252,856 (GRCm39) |
I183T |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,742,453 (GRCm39) |
H437Q |
possibly damaging |
Het |
| Dido1 |
C |
T |
2: 180,302,940 (GRCm39) |
A1655T |
probably benign |
Het |
| Eva1b |
A |
G |
4: 126,043,278 (GRCm39) |
D106G |
probably damaging |
Het |
| Evc2 |
G |
T |
5: 37,581,923 (GRCm39) |
S1189I |
possibly damaging |
Het |
| Faap100 |
A |
T |
11: 120,267,558 (GRCm39) |
L405Q |
probably damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,386,234 (GRCm39) |
M249L |
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,366,326 (GRCm39) |
L526Q |
probably damaging |
Het |
| Gm19402 |
A |
C |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Gm2244 |
A |
G |
14: 19,590,865 (GRCm39) |
Y141H |
probably damaging |
Het |
| Gm4181 |
A |
T |
14: 51,870,666 (GRCm39) |
N98K |
probably damaging |
Het |
| Golga4 |
C |
T |
9: 118,387,695 (GRCm39) |
R616* |
probably null |
Het |
| Gpank1 |
T |
A |
17: 35,343,266 (GRCm39) |
S226T |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,770 (GRCm39) |
M141V |
probably damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
| Igf1r |
T |
G |
7: 67,653,885 (GRCm39) |
I141S |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,273,059 (GRCm39) |
F628I |
probably benign |
Het |
| Kcp |
C |
A |
6: 29,502,364 (GRCm39) |
V227L |
probably benign |
Het |
| Knl1 |
T |
G |
2: 118,902,422 (GRCm39) |
C1374W |
probably damaging |
Het |
| Larp6 |
A |
T |
9: 60,645,043 (GRCm39) |
R394S |
probably benign |
Het |
| Lilra5 |
G |
A |
7: 4,245,114 (GRCm39) |
G253R |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,482,945 (GRCm39) |
S591P |
probably damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,215,134 (GRCm39) |
D163G |
probably damaging |
Het |
| Minar2 |
A |
G |
18: 59,205,296 (GRCm39) |
K28R |
probably benign |
Het |
| Mrpl16 |
T |
A |
19: 11,750,332 (GRCm39) |
I72K |
probably damaging |
Het |
| Nol11 |
C |
G |
11: 107,071,860 (GRCm39) |
R244S |
probably benign |
Het |
| Nr2f1 |
T |
C |
13: 78,343,782 (GRCm39) |
T161A |
probably benign |
Het |
| Nrdc |
G |
T |
4: 108,895,203 (GRCm39) |
V476F |
probably damaging |
Het |
| Or10j7 |
G |
T |
1: 173,011,477 (GRCm39) |
H175N |
probably damaging |
Het |
| Or10z1 |
A |
T |
1: 174,078,395 (GRCm39) |
S33T |
possibly damaging |
Het |
| Or13a22 |
T |
A |
7: 140,072,626 (GRCm39) |
L25Q |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,777,843 (GRCm39) |
H56L |
probably benign |
Het |
| P2rx1 |
A |
G |
11: 72,898,974 (GRCm39) |
I62V |
probably benign |
Het |
| Pcdhgc5 |
A |
T |
18: 37,953,674 (GRCm39) |
Y316F |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,576,065 (GRCm39) |
D490G |
probably benign |
Het |
| Poldip2 |
A |
G |
11: 78,408,458 (GRCm39) |
|
probably null |
Het |
| Ppp2r5b |
T |
A |
19: 6,280,566 (GRCm39) |
Q304L |
probably benign |
Het |
| Pramel26 |
A |
G |
4: 143,542,609 (GRCm39) |
C4R |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,753 (GRCm39) |
F29L |
probably benign |
Het |
| Ptk6 |
A |
T |
2: 180,838,886 (GRCm39) |
L289Q |
probably null |
Het |
| Ptprt |
A |
T |
2: 161,743,417 (GRCm39) |
I508N |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,847,808 (GRCm39) |
F406S |
probably damaging |
Het |
| Rspo3 |
A |
G |
10: 29,375,926 (GRCm39) |
|
probably null |
Het |
| Septin8 |
G |
T |
11: 53,425,594 (GRCm39) |
|
probably null |
Het |
| Sirt2 |
A |
C |
7: 28,487,471 (GRCm39) |
T345P |
probably benign |
Het |
| Slc6a20b |
T |
C |
9: 123,438,161 (GRCm39) |
E205G |
possibly damaging |
Het |
| Sqstm1 |
G |
A |
11: 50,093,418 (GRCm39) |
Q327* |
probably null |
Het |
| Susd3 |
T |
A |
13: 49,390,997 (GRCm39) |
S98C |
probably damaging |
Het |
| Tada2b |
G |
A |
5: 36,634,186 (GRCm39) |
R56W |
probably damaging |
Het |
| Tbc1d2 |
A |
T |
4: 46,615,045 (GRCm39) |
V546E |
possibly damaging |
Het |
| Tbx6 |
A |
G |
7: 126,380,740 (GRCm39) |
Q21R |
possibly damaging |
Het |
| Usp24 |
T |
G |
4: 106,231,297 (GRCm39) |
|
probably null |
Het |
| Vinac1 |
T |
G |
2: 128,879,719 (GRCm39) |
T736P |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,032,406 (GRCm39) |
T727A |
probably benign |
Het |
| Wdr48 |
C |
T |
9: 119,749,676 (GRCm39) |
T531M |
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 |
|
|
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'- ATCCAACCTAAGCTGGTCTTTC -3'
(R):5'- GGTAGAACCTCAGCTCTTCTCG -3'
Sequencing Primer
(F):5'- CAACCTAAGCTGGTCTTTCAATCTAG -3'
(R):5'- AGCTCTTCTCGTAAGTCAGGAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation