Incidental Mutation 'R2253:Slc2a5'
| ID |
241801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a5
|
| Ensembl Gene |
ENSMUSG00000028976 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 5 |
| Synonyms |
GLUT5 |
| MMRRC Submission |
040253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R2253 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150203801-150228625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150224447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 315
(Y315H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
| AlphaFold |
Q9WV38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030826
AA Change: Y315H
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976
AA Change: Y315H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
397 |
1e-19 |
PFAM |
|
Pfam:Sugar_tr
|
19 |
474 |
2.1e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151504
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| 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 a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cochlear morphology and physiology with no detectable alterations in outer hair cell morphology, electromotility or nonlinear capacitance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Acss3 |
G |
A |
10: 106,840,609 (GRCm39) |
A384V |
probably damaging |
Het |
| Aff2 |
G |
A |
X: 68,878,409 (GRCm39) |
E732K |
possibly damaging |
Het |
| Atp12a |
A |
G |
14: 56,613,715 (GRCm39) |
T496A |
probably benign |
Het |
| B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
| Bptf |
G |
T |
11: 107,002,148 (GRCm39) |
D321E |
probably damaging |
Het |
| C1ql3 |
C |
T |
2: 13,015,130 (GRCm39) |
V177I |
possibly damaging |
Het |
| C2cd5 |
A |
T |
6: 142,982,042 (GRCm39) |
Y607* |
probably null |
Het |
| Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
| Cd248 |
A |
G |
19: 5,118,154 (GRCm39) |
M1V |
probably null |
Het |
| Cdh18 |
A |
G |
15: 23,410,891 (GRCm39) |
T405A |
probably benign |
Het |
| Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
| Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
| Kank4 |
A |
T |
4: 98,667,463 (GRCm39) |
I328N |
probably damaging |
Het |
| Krt9 |
A |
T |
11: 100,081,685 (GRCm39) |
N281K |
possibly damaging |
Het |
| Lgals12 |
T |
A |
19: 7,584,130 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
| Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
| Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
| Or2w3b |
T |
C |
11: 58,623,821 (GRCm39) |
T57A |
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,549 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,101,622 (GRCm39) |
K453E |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,278,981 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
| Rnf181 |
G |
T |
6: 72,338,467 (GRCm39) |
H14N |
possibly damaging |
Het |
| Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,257,418 (GRCm39) |
V240A |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,392 (GRCm39) |
S23P |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,442,143 (GRCm39) |
N721S |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,100,772 (GRCm39) |
E54G |
probably benign |
Het |
| Tesl2 |
G |
A |
X: 23,824,950 (GRCm39) |
A75V |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,853,563 (GRCm39) |
H131R |
probably benign |
Het |
| Vmn2r6 |
C |
T |
3: 64,467,139 (GRCm39) |
C120Y |
probably damaging |
Het |
| Zdhhc18 |
A |
T |
4: 133,360,388 (GRCm39) |
|
probably null |
Het |
| Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc2a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Slc2a5
|
APN |
4 |
150,210,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01071:Slc2a5
|
APN |
4 |
150,205,190 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01977:Slc2a5
|
APN |
4 |
150,226,675 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03271:Slc2a5
|
APN |
4 |
150,220,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Slc2a5
|
UTSW |
4 |
150,223,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
BB016:Slc2a5
|
UTSW |
4 |
150,223,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0760:Slc2a5
|
UTSW |
4 |
150,224,124 (GRCm39) |
missense |
probably benign |
|
|
R0906:Slc2a5
|
UTSW |
4 |
150,227,287 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1099:Slc2a5
|
UTSW |
4 |
150,226,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1809:Slc2a5
|
UTSW |
4 |
150,227,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Slc2a5
|
UTSW |
4 |
150,227,634 (GRCm39) |
nonsense |
probably null |
|
|
R2152:Slc2a5
|
UTSW |
4 |
150,210,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Slc2a5
|
UTSW |
4 |
150,205,203 (GRCm39) |
missense |
probably benign |
|
|
R4835:Slc2a5
|
UTSW |
4 |
150,224,462 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4926:Slc2a5
|
UTSW |
4 |
150,205,199 (GRCm39) |
nonsense |
probably null |
|
|
R5123:Slc2a5
|
UTSW |
4 |
150,224,262 (GRCm39) |
nonsense |
probably null |
|
|
R5397:Slc2a5
|
UTSW |
4 |
150,224,280 (GRCm39) |
splice site |
probably null |
|
|
R6209:Slc2a5
|
UTSW |
4 |
150,227,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6342:Slc2a5
|
UTSW |
4 |
150,223,983 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6547:Slc2a5
|
UTSW |
4 |
150,220,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7340:Slc2a5
|
UTSW |
4 |
150,224,439 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7507:Slc2a5
|
UTSW |
4 |
150,210,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Slc2a5
|
UTSW |
4 |
150,213,526 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7572:Slc2a5
|
UTSW |
4 |
150,226,642 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7751:Slc2a5
|
UTSW |
4 |
150,227,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7929:Slc2a5
|
UTSW |
4 |
150,223,942 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8058:Slc2a5
|
UTSW |
4 |
150,227,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8318:Slc2a5
|
UTSW |
4 |
150,224,115 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8477:Slc2a5
|
UTSW |
4 |
150,210,119 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8498:Slc2a5
|
UTSW |
4 |
150,210,590 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8975:Slc2a5
|
UTSW |
4 |
150,224,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATTGTCCTCATGGCTGG -3'
(R):5'- TACAGCAGAGCTTTGAGGCTG -3'
Sequencing Primer
(F):5'- CAGCTGTCGGGAGTGAAC -3'
(R):5'- AGGCTGGGGCGTCAGAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation