Incidental Mutation 'R8498:Slc2a5'
| ID |
658365 |
| 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 |
067940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R8498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150203801-150228625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150210590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 46
(Q46R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030826]
|
| AlphaFold |
Q9WV38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030826
AA Change: Q46R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976
AA Change: Q46R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
16 |
397 |
1e-19 |
PFAM |
|
Pfam:Sugar_tr
|
19 |
474 |
2.1e-138 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
T |
1: 120,096,872 (GRCm39) |
|
probably null |
Het |
| Amigo1 |
A |
G |
3: 108,095,751 (GRCm39) |
M417V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,823,306 (GRCm39) |
Q1701K |
probably benign |
Het |
| Cfhr2 |
G |
T |
1: 139,741,219 (GRCm39) |
T252K |
possibly damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,602,211 (GRCm39) |
V1205E |
possibly damaging |
Het |
| Ctsb |
T |
C |
14: 63,370,881 (GRCm39) |
I31T |
probably benign |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,809,094 (GRCm39) |
D1062G |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,657,139 (GRCm39) |
M879R |
probably benign |
Het |
| Gcc1 |
C |
A |
6: 28,418,029 (GRCm39) |
S768I |
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,128,218 (GRCm39) |
Y637H |
probably damaging |
Het |
| Gm4787 |
T |
C |
12: 81,425,840 (GRCm39) |
D106G |
probably damaging |
Het |
| Gm527 |
T |
A |
12: 64,967,782 (GRCm39) |
V68D |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,955,605 (GRCm39) |
Y226* |
probably null |
Het |
| Hkdc1 |
T |
C |
10: 62,221,662 (GRCm39) |
R799G |
probably benign |
Het |
| Ier2 |
T |
C |
8: 85,389,353 (GRCm39) |
I10V |
probably damaging |
Het |
| Ifi209 |
A |
G |
1: 173,470,069 (GRCm39) |
N219S |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,625 (GRCm39) |
I606T |
probably benign |
Het |
| Krt88 |
A |
G |
15: 101,351,406 (GRCm39) |
S138G |
probably benign |
Het |
| Lrrc3 |
T |
C |
10: 77,736,824 (GRCm39) |
D204G |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,567,688 (GRCm39) |
I705T |
possibly damaging |
Het |
| Mpl |
G |
A |
4: 118,306,207 (GRCm39) |
P278S |
probably benign |
Het |
| Nkx3-2 |
T |
C |
5: 41,920,989 (GRCm39) |
E100G |
probably benign |
Het |
| Or13p8 |
A |
T |
4: 118,583,822 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Or56b1b |
A |
T |
7: 108,164,833 (GRCm39) |
C56* |
probably null |
Het |
| Or8b12b |
G |
A |
9: 37,684,560 (GRCm39) |
V202M |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,317,974 (GRCm39) |
V992I |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,953,487 (GRCm39) |
N254D |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,288,655 (GRCm39) |
E103G |
probably damaging |
Het |
| Ppp2r1b |
C |
T |
9: 50,778,194 (GRCm39) |
R304* |
probably null |
Het |
| Pramel30 |
A |
G |
4: 144,058,233 (GRCm39) |
D280G |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,907,467 (GRCm39) |
A35V |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,312,788 (GRCm39) |
N194S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,862,248 (GRCm39) |
E379V |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,618,267 (GRCm39) |
I186F |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,055,047 (GRCm39) |
C85Y |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,378,989 (GRCm39) |
L935I |
probably damaging |
Het |
| Ss18l1 |
A |
T |
2: 179,699,968 (GRCm39) |
Q276L |
probably damaging |
Het |
| Tas2r129 |
A |
T |
6: 132,928,815 (GRCm39) |
M251L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,693 (GRCm39) |
E458G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,058,626 (GRCm39) |
N594K |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,744,148 (GRCm39) |
C835S |
probably damaging |
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 |
|
R2253:Slc2a5
|
UTSW |
4 |
150,224,447 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
R8975:Slc2a5
|
UTSW |
4 |
150,224,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCTACCAGAGTTCTTCC -3'
(R):5'- GCACTAGCACGCTTCATATACC -3'
Sequencing Primer
(F):5'- AGAGTTCTTCCCACAGATGTCG -3'
(R):5'- GCTTCATATACCAACACCAGTAAGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation