Incidental Mutation 'R5576:Fbp2'
| ID |
437230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbp2
|
| Ensembl Gene |
ENSMUSG00000021456 |
| Gene Name |
fructose bisphosphatase 2 |
| Synonyms |
FBPase muscle, Fbp-1 |
| MMRRC Submission |
043131-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R5576 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
62984698-63006214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62985005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 305
(D305E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021907]
|
| AlphaFold |
P70695 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021907
AA Change: D305E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021907
Gene: ENSMUSG00000021456
AA Change: D305E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FBPase
|
12 |
334 |
1.1e-138 |
PFAM |
|
Pfam:Inositol_P
|
31 |
127 |
5.2e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,570 (GRCm39) |
T96I |
probably benign |
Het |
| Add2 |
G |
T |
6: 86,084,457 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
C |
T |
7: 75,984,985 (GRCm39) |
T134M |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,848,445 (GRCm39) |
S32T |
probably benign |
Het |
| Ankrd17 |
A |
C |
5: 90,391,083 (GRCm39) |
S2087A |
probably benign |
Het |
| Apob |
A |
T |
12: 8,048,662 (GRCm39) |
E1012V |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,887,737 (GRCm39) |
V297E |
probably benign |
Het |
| BC034090 |
T |
G |
1: 155,117,214 (GRCm39) |
K301N |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,563,595 (GRCm39) |
I74T |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,069,712 (GRCm39) |
H189R |
probably benign |
Het |
| Ccdc122 |
G |
A |
14: 77,329,317 (GRCm39) |
M123I |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,724,922 (GRCm39) |
|
probably null |
Het |
| Dnaja2 |
A |
T |
8: 86,266,033 (GRCm39) |
L351I |
possibly damaging |
Het |
| Efcab6 |
C |
A |
15: 83,834,201 (GRCm39) |
S469I |
probably benign |
Het |
| Esp15 |
C |
A |
17: 39,953,564 (GRCm39) |
T17K |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,163,238 (GRCm39) |
T172A |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,382,602 (GRCm39) |
T541A |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,865,710 (GRCm39) |
Y768H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,753,931 (GRCm39) |
V514A |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,312,255 (GRCm39) |
E141G |
probably null |
Het |
| Nln |
A |
G |
13: 104,195,338 (GRCm39) |
Y245H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,310,414 (GRCm39) |
R1563H |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,369 (GRCm39) |
M101L |
probably benign |
Het |
| Or8b44 |
A |
C |
9: 38,410,204 (GRCm39) |
K80Q |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,875 (GRCm39) |
S53P |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,459,931 (GRCm39) |
K1112* |
probably null |
Het |
| Ppfia4 |
T |
G |
1: 134,250,788 (GRCm39) |
D184A |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,079,251 (GRCm39) |
D216E |
probably benign |
Het |
| Sbno2 |
C |
T |
10: 79,903,171 (GRCm39) |
A398T |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,552 (GRCm39) |
S94T |
probably benign |
Het |
| Skp1 |
T |
G |
11: 52,133,415 (GRCm39) |
D33E |
possibly damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,433,364 (GRCm39) |
W220R |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,258 (GRCm39) |
M826K |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,822 (GRCm39) |
K322E |
probably benign |
Het |
| Spata32 |
T |
A |
11: 103,100,653 (GRCm39) |
N38I |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,726,218 (GRCm39) |
R969G |
probably damaging |
Het |
| Trgc2 |
T |
C |
13: 19,489,301 (GRCm39) |
I144V |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,377 (GRCm39) |
L385S |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,444,836 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
A |
15: 81,906,693 (GRCm39) |
D79E |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,426,744 (GRCm39) |
C2467* |
probably null |
Het |
| Zfp26 |
A |
G |
9: 20,348,803 (GRCm39) |
V587A |
possibly damaging |
Het |
| Zfp553 |
C |
T |
7: 126,835,875 (GRCm39) |
R477C |
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 |
|
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 |
|
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'- TTCTGACCGTGACCTGTGTC -3'
(R):5'- AGACAGCTCAGCAGTTCAC -3'
Sequencing Primer
(F):5'- TGACCTGTGTCACTTGACTTC -3'
(R):5'- GTTCACACTGCTCTTAGTATTTAAGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation