Incidental Mutation 'R0064:Fbp2'
| ID |
16418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbp2
|
| Ensembl Gene |
ENSMUSG00000021456 |
| Gene Name |
fructose bisphosphatase 2 |
| Synonyms |
FBPase muscle, Fbp-1 |
| MMRRC Submission |
038356-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R0064 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
62984698-63006214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63001862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 118
(F118I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021907]
|
| AlphaFold |
P70695 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021907
AA Change: F118I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021907
Gene: ENSMUSG00000021456
AA Change: F118I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FBPase
|
12 |
334 |
1.1e-138 |
PFAM |
|
Pfam:Inositol_P
|
31 |
127 |
5.2e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222000
|
| Meta Mutation Damage Score |
0.2340 |
| Coding Region Coverage |
- 1x: 87.7%
- 3x: 83.1%
- 10x: 65.7%
- 20x: 35.9%
|
| Validation Efficiency |
92% (56/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. [provided by RefSeq, Jul 2008]
PHENOTYPE: This locus controls electrophoretic variation of fructose bisphosphatase isozymes in muscle. Isozymes of kidney, liver and testis are not affected. P, SEA, SWR and Peru-Coppock have a slow migrating band; SM, C3H/He, C57BL/Go, CE and DBA/2 have a fast migrating band. Heterozygotes are intermediate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
G |
3: 40,888,288 (GRCm39) |
I377M |
probably benign |
Het |
| Ccdc25 |
T |
A |
14: 66,091,561 (GRCm39) |
I60K |
possibly damaging |
Het |
| Cdk1 |
T |
C |
10: 69,180,907 (GRCm39) |
D101G |
probably benign |
Het |
| Cep126 |
A |
T |
9: 8,130,183 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crlf3 |
A |
G |
11: 79,948,728 (GRCm39) |
I239T |
possibly damaging |
Het |
| Cul1 |
A |
G |
6: 47,479,349 (GRCm39) |
|
probably benign |
Het |
| Fgd3 |
T |
G |
13: 49,449,901 (GRCm39) |
D116A |
possibly damaging |
Het |
| Gm270 |
C |
A |
13: 49,919,367 (GRCm39) |
|
noncoding transcript |
Het |
| Knl1 |
T |
A |
2: 118,906,724 (GRCm39) |
N1604K |
probably benign |
Het |
| Lpl |
A |
G |
8: 69,345,356 (GRCm39) |
H120R |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,738,170 (GRCm39) |
R1704L |
probably damaging |
Het |
| Nlrc3 |
G |
T |
16: 3,781,951 (GRCm39) |
T486K |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,918,292 (GRCm39) |
V6260G |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,487 (GRCm39) |
F151L |
probably benign |
Het |
| Pmpca |
C |
A |
2: 26,285,519 (GRCm39) |
D498E |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,887,239 (GRCm39) |
E28* |
probably null |
Het |
| Polg |
C |
A |
7: 79,111,632 (GRCm39) |
W206C |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,912 (GRCm39) |
Y687H |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,536,389 (GRCm39) |
T646S |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,385,856 (GRCm39) |
Q1381* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,172,263 (GRCm39) |
D84G |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,576,028 (GRCm39) |
F843L |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly damaging |
Het |
|
| Other mutations in Fbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Fbp2
|
APN |
13 |
62,989,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01284:Fbp2
|
APN |
13 |
62,988,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0020:Fbp2
|
UTSW |
13 |
63,001,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Fbp2
|
UTSW |
13 |
63,001,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Fbp2
|
UTSW |
13 |
63,001,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Fbp2
|
UTSW |
13 |
63,001,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Fbp2
|
UTSW |
13 |
63,001,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0219:Fbp2
|
UTSW |
13 |
63,001,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Fbp2
|
UTSW |
13 |
63,001,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Fbp2
|
UTSW |
13 |
62,984,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Fbp2
|
UTSW |
13 |
63,001,875 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2091:Fbp2
|
UTSW |
13 |
63,006,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2192:Fbp2
|
UTSW |
13 |
63,006,056 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3943:Fbp2
|
UTSW |
13 |
62,989,607 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4092:Fbp2
|
UTSW |
13 |
62,988,174 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4124:Fbp2
|
UTSW |
13 |
63,002,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4508:Fbp2
|
UTSW |
13 |
62,989,679 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4841:Fbp2
|
UTSW |
13 |
63,002,727 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5576:Fbp2
|
UTSW |
13 |
62,985,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5893:Fbp2
|
UTSW |
13 |
62,984,916 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6989:Fbp2
|
UTSW |
13 |
63,005,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7156:Fbp2
|
UTSW |
13 |
62,989,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7340:Fbp2
|
UTSW |
13 |
62,985,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7366:Fbp2
|
UTSW |
13 |
62,985,012 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7413:Fbp2
|
UTSW |
13 |
62,985,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8855:Fbp2
|
UTSW |
13 |
62,989,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8866:Fbp2
|
UTSW |
13 |
62,989,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9136:Fbp2
|
UTSW |
13 |
63,002,840 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9233:Fbp2
|
UTSW |
13 |
62,989,622 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Posted On |
2013-01-20 |
Incidental Mutation