Incidental Mutation 'R4092:Fbp2'
ID |
317692 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbp2
|
Ensembl Gene |
ENSMUSG00000021456 |
Gene Name |
fructose bisphosphatase 2 |
Synonyms |
FBPase muscle, Fbp-1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.332)
|
Stock # |
R4092 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
62984698-63006214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 62988174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 246
(V246M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021907]
|
AlphaFold |
P70695 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021907
AA Change: V246M
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021907 Gene: ENSMUSG00000021456 AA Change: V246M
Domain | Start | End | E-Value | Type |
Pfam:FBPase
|
12 |
334 |
1.1e-138 |
PFAM |
Pfam:Inositol_P
|
31 |
127 |
5.2e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.2605 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (53/53) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
A |
T |
9: 124,055,903 (GRCm39) |
H340Q |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,145,004 (GRCm39) |
I116N |
probably damaging |
Het |
Adamts2 |
T |
A |
11: 50,678,103 (GRCm39) |
V794E |
probably damaging |
Het |
Ak9 |
T |
C |
10: 41,265,140 (GRCm39) |
S966P |
probably benign |
Het |
Alox5 |
G |
A |
6: 116,389,635 (GRCm39) |
|
probably benign |
Het |
Bmerb1 |
G |
A |
16: 13,867,346 (GRCm39) |
R68H |
probably damaging |
Het |
Brip1 |
C |
T |
11: 86,039,347 (GRCm39) |
D396N |
possibly damaging |
Het |
Catsper3 |
C |
T |
13: 55,932,484 (GRCm39) |
H4Y |
probably benign |
Het |
Cmtm2a |
T |
C |
8: 105,019,403 (GRCm39) |
Y62C |
probably benign |
Het |
Crim1 |
T |
C |
17: 78,658,265 (GRCm39) |
C715R |
probably damaging |
Het |
Dio3 |
A |
G |
12: 110,246,234 (GRCm39) |
D190G |
possibly damaging |
Het |
Efl1 |
A |
G |
7: 82,412,035 (GRCm39) |
E808G |
probably benign |
Het |
Eif1ad16 |
A |
T |
12: 87,985,194 (GRCm39) |
N116K |
possibly damaging |
Het |
Fam83b |
T |
C |
9: 76,398,943 (GRCm39) |
D720G |
probably benign |
Het |
Gm10197 |
G |
A |
19: 53,360,196 (GRCm39) |
|
probably benign |
Het |
Icam2 |
C |
A |
11: 106,271,623 (GRCm39) |
M1I |
probably null |
Het |
Insyn2b |
G |
A |
11: 34,351,935 (GRCm39) |
|
probably benign |
Het |
Kit |
T |
C |
5: 75,771,470 (GRCm39) |
I209T |
probably benign |
Het |
Lcmt1 |
T |
C |
7: 123,017,476 (GRCm39) |
V200A |
probably damaging |
Het |
Lrrn2 |
C |
T |
1: 132,865,390 (GRCm39) |
Q152* |
probably null |
Het |
Mmadhc |
A |
G |
2: 50,177,895 (GRCm39) |
M174T |
probably benign |
Het |
N4bp2 |
A |
G |
5: 65,947,799 (GRCm39) |
N143S |
probably benign |
Het |
Ndufs1 |
G |
A |
1: 63,196,405 (GRCm39) |
A340V |
possibly damaging |
Het |
Nid1 |
A |
G |
13: 13,661,224 (GRCm39) |
D708G |
probably damaging |
Het |
Noc2l |
A |
C |
4: 156,327,033 (GRCm39) |
T295P |
probably damaging |
Het |
Nutm1 |
T |
A |
2: 112,079,809 (GRCm39) |
N702I |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,946,886 (GRCm39) |
M4083L |
probably benign |
Het |
Or5b104 |
T |
C |
19: 13,072,790 (GRCm39) |
Y74C |
probably damaging |
Het |
Otol1 |
T |
A |
3: 69,935,118 (GRCm39) |
I370N |
probably damaging |
Het |
Paip1 |
T |
G |
13: 119,586,449 (GRCm39) |
S58A |
probably benign |
Het |
Pfas |
T |
C |
11: 68,884,775 (GRCm39) |
T476A |
probably benign |
Het |
Plppr3 |
G |
T |
10: 79,703,314 (GRCm39) |
R57S |
probably damaging |
Het |
Ptgir |
T |
C |
7: 16,640,932 (GRCm39) |
S75P |
probably damaging |
Het |
Raver1 |
A |
T |
9: 20,992,568 (GRCm39) |
L287Q |
probably damaging |
Het |
Rps6ka4 |
C |
T |
19: 6,809,623 (GRCm39) |
|
probably null |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Scn11a |
T |
A |
9: 119,619,036 (GRCm39) |
M769L |
probably benign |
Het |
Serpina16 |
G |
T |
12: 103,638,836 (GRCm39) |
H250Q |
probably benign |
Het |
Serpina3a |
G |
A |
12: 104,082,625 (GRCm39) |
V133I |
probably benign |
Het |
Slc12a8 |
G |
A |
16: 33,437,491 (GRCm39) |
G308D |
probably damaging |
Het |
Slfn5 |
T |
C |
11: 82,851,893 (GRCm39) |
L673P |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,183,166 (GRCm39) |
K1036E |
possibly damaging |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Sptbn5 |
C |
A |
2: 119,897,532 (GRCm39) |
E550D |
probably damaging |
Het |
Srgap3 |
G |
T |
6: 112,700,045 (GRCm39) |
P1002T |
probably benign |
Het |
Tollip |
C |
T |
7: 141,438,180 (GRCm39) |
R181H |
probably damaging |
Het |
Trmt1l |
T |
A |
1: 151,330,784 (GRCm39) |
S600R |
probably benign |
Het |
Vps16 |
T |
A |
2: 130,281,832 (GRCm39) |
Y315N |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,551,037 (GRCm39) |
E367G |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCACAGAGCTTGCCAGG -3'
(R):5'- CAGTTCTTGGGTACAATTTATCTGT -3'
Sequencing Primer
(F):5'- GGAGCAGATGAATCCCCATAGCTC -3'
(R):5'- CTGACATCTGCGTGCTAGAAATG -3'
|
Posted On |
2015-05-15 |