Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01977:Slc2a5'

181700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc2a5

Ensembl Gene

ENSMUSG00000028976

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 5

Synonyms

GLUT5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01977

Quality Score

Status

Chromosome

Chromosomal Location

150203801-150228625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150226675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 379 (V379A)

Ref Sequence

ENSEMBL: ENSMUSP00000030826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030826]

AlphaFold

Q9WV38

Predicted Effect

probably damaging
Transcript: ENSMUST00000030826
AA Change: V379A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976
AA Change: V379A

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,841,986 (GRCm39)	S1040T	probably benign	Het
Adam25	T	C	8: 41,208,134 (GRCm39)	Y467H	probably benign	Het
Ank1	A	G	8: 23,605,449 (GRCm39)	I1061V	probably benign	Het
Anxa10	T	C	8: 62,529,348 (GRCm39)	E123G	probably damaging	Het
Arhgap35	G	A	7: 16,297,128 (GRCm39)	L646F	probably damaging	Het
Atp8b5	A	G	4: 43,320,590 (GRCm39)		probably null	Het
Brap	A	G	5: 121,816,910 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,730,993 (GRCm39)	T87A	probably damaging	Het
Ccdc172	A	G	19: 58,541,309 (GRCm39)	D256G	possibly damaging	Het
Cep350	C	T	1: 155,787,714 (GRCm39)	A1375T	probably benign	Het
Chrdl2	A	T	7: 99,671,263 (GRCm39)	Q127L	probably benign	Het
Cyp2c29	T	C	19: 39,279,341 (GRCm39)		probably benign	Het
Ddi1	C	A	9: 6,266,226 (GRCm39)	V48F	probably benign	Het
Ddrgk1	C	T	2: 130,497,166 (GRCm39)		probably benign	Het
Fastkd1	C	T	2: 69,524,932 (GRCm39)	V626I	possibly damaging	Het
Fgd5	A	G	6: 92,001,543 (GRCm39)	T755A	probably benign	Het
Fpgt	G	T	3: 154,793,655 (GRCm39)	T124K	probably damaging	Het
Gnl2	G	A	4: 124,941,405 (GRCm39)		probably null	Het
Got1	A	T	19: 43,504,284 (GRCm39)	S46T	probably benign	Het
Hbb-bt	G	T	7: 103,463,070 (GRCm39)	H3N	probably benign	Het
Ikbke	C	T	1: 131,199,838 (GRCm39)		probably benign	Het
Il2rb	A	G	15: 78,365,897 (GRCm39)	S467P	probably benign	Het
Kcnma1	A	G	14: 23,580,367 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,876,973 (GRCm39)	N391D	probably damaging	Het
Npr3	A	T	15: 11,858,804 (GRCm39)	I360N	probably damaging	Het
Nradd	G	A	9: 110,451,237 (GRCm39)	P44S	possibly damaging	Het
Or5m10	G	T	2: 85,717,711 (GRCm39)	C189F	probably damaging	Het
Or7h8	G	A	9: 20,123,755 (GRCm39)	V37I	possibly damaging	Het
Pcdh17	A	G	14: 84,770,537 (GRCm39)	E1005G	possibly damaging	Het
Pcdhb11	A	G	18: 37,555,344 (GRCm39)	T225A	possibly damaging	Het
Pja2	T	C	17: 64,604,821 (GRCm39)	D454G	probably benign	Het
Pon3	T	C	6: 5,221,670 (GRCm39)	Y320C	probably damaging	Het
Prl2a1	A	G	13: 27,990,261 (GRCm39)	D70G	probably damaging	Het
Proc	T	A	18: 32,260,472 (GRCm39)	T218S	probably benign	Het
Proz	G	T	8: 13,116,913 (GRCm39)	G155V	probably damaging	Het
Rab11fip3	T	C	17: 26,286,977 (GRCm39)	E392G	possibly damaging	Het
Rab3gap2	C	T	1: 184,999,220 (GRCm39)	R976*	probably null	Het
Shisa2	G	A	14: 59,867,435 (GRCm39)	C229Y	probably damaging	Het
Slc31a2	A	T	4: 62,214,197 (GRCm39)	K47N	probably damaging	Het
Sult2a6	G	A	7: 13,987,411 (GRCm39)	T88I	probably benign	Het
Tbc1d14	T	C	5: 36,662,381 (GRCm39)	Y302C	probably damaging	Het
Thumpd3	C	A	6: 113,036,927 (GRCm39)	N275K	possibly damaging	Het
Tnks2	T	C	19: 36,849,990 (GRCm39)		probably null	Het
Tube1	G	A	10: 39,011,041 (GRCm39)		probably benign	Het
Umodl1	T	A	17: 31,192,742 (GRCm39)	Y290N	probably damaging	Het
Usp34	G	A	11: 23,402,661 (GRCm39)	E726K	probably damaging	Het
Vmn2r84	T	A	10: 130,229,935 (GRCm39)	D59V	probably benign	Het
Vps11	T	A	9: 44,267,516 (GRCm39)		probably benign	Het
Wdr19	T	C	5: 65,385,912 (GRCm39)	Y631H	probably benign	Het
Wdr62	G	A	7: 29,957,526 (GRCm39)	H88Y	probably damaging	Het
Wdr93	A	T	7: 79,402,253 (GRCm39)	N184I	probably damaging	Het
Wnk4	T	A	11: 101,156,240 (GRCm39)	F473Y	probably damaging	Het
Zbtb16	A	G	9: 48,568,483 (GRCm39)	W661R	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
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
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

Posted On

2014-05-07