Mutagenetix > Incidental Mutation

Incidental Mutation 'R8318:Slc2a5'

641802

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

067855-MU

Accession Numbers

Essential gene?

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

Stock #

R8318 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150203801-150228625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150224115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 241 (D241G)

Ref Sequence

ENSEMBL: ENSMUSP00000030826 (fasta)

Gene Model

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

AlphaFold

Q9WV38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030826
AA Change: D241G

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976
AA Change: D241G

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: 99.9%
10x: 99.6%
20x: 98.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	T	C	8: 23,605,567 (GRCm39)	V1145A	probably damaging	Het
Ankrd35	G	A	3: 96,592,038 (GRCm39)	V775M	probably damaging	Het
Ankrd63	C	T	2: 118,533,721 (GRCm39)	V67M	unknown	Het
Arhgef5	T	A	6: 43,252,933 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,734,335 (GRCm39)	Q1152H	probably benign	Het
Carmil1	A	G	13: 24,220,442 (GRCm39)	L1094P	probably benign	Het
Col7a1	G	A	9: 108,787,442 (GRCm39)	A612T	unknown	Het
Csgalnact1	T	C	8: 68,913,785 (GRCm39)	E140G	probably damaging	Het
Ddx18	G	T	1: 121,493,816 (GRCm39)	A56D	probably benign	Het
Dixdc1	T	C	9: 50,595,709 (GRCm39)		probably null	Het
Dpys	G	A	15: 39,648,061 (GRCm39)	T498I	probably benign	Het
Ear6	A	G	14: 52,091,722 (GRCm39)	I90V	probably benign	Het
Egr1	T	C	18: 34,996,663 (GRCm39)	S482P	probably damaging	Het
Ehbp1	C	T	11: 22,087,980 (GRCm39)	R393Q	probably benign	Het
Enpep	A	G	3: 129,063,986 (GRCm39)	I927T	probably damaging	Het
Ermard	C	T	17: 15,242,334 (GRCm39)	T406I	possibly damaging	Het
Etl4	T	C	2: 20,793,341 (GRCm39)	S971P	probably damaging	Het
Fan1	C	A	7: 63,999,803 (GRCm39)	V861F	probably damaging	Het
Fbp1	A	G	13: 63,012,825 (GRCm39)	F328L	probably benign	Het
Fgd5	T	A	6: 91,964,477 (GRCm39)	F237I	probably benign	Het
Fmn1	T	C	2: 113,195,502 (GRCm39)	S401P	unknown	Het
Gabbr1	G	A	17: 37,373,435 (GRCm39)	E444K	probably benign	Het
Htr3b	C	A	9: 48,876,177 (GRCm39)		probably benign	Het
Ighv1-49	A	G	12: 115,019,051 (GRCm39)	F48S	probably damaging	Het
Kcnh4	A	G	11: 100,643,154 (GRCm39)	L371P	probably damaging	Het
Kcnk15	A	G	2: 163,700,189 (GRCm39)	T143A	probably damaging	Het
Klk1b4	T	G	7: 43,860,335 (GRCm39)	S150A	possibly damaging	Het
Krt6a	A	T	15: 101,602,682 (GRCm39)	M1K	probably null	Het
Lama2	G	A	10: 26,860,334 (GRCm39)	S3051L	probably damaging	Het
Lgals4	T	C	7: 28,533,940 (GRCm39)	M38T	probably benign	Het
Mdn1	T	C	4: 32,735,897 (GRCm39)		probably null	Het
Mindy1	A	G	3: 95,199,936 (GRCm39)	S246G	probably damaging	Het
Myo18a	A	G	11: 77,714,215 (GRCm39)	T770A	probably benign	Het
Or13d1	T	C	4: 52,971,104 (GRCm39)	V161A	probably benign	Het
Or4a81	C	T	2: 89,619,321 (GRCm39)	C125Y	possibly damaging	Het
Or4c116	T	A	2: 88,942,242 (GRCm39)	I205F	probably benign	Het
Pcdhb19	T	A	18: 37,630,999 (GRCm39)	S265T	possibly damaging	Het
Pcna	T	C	2: 132,093,348 (GRCm39)	Y133C	probably damaging	Het
Polr2b	A	G	5: 77,483,576 (GRCm39)	E684G	probably benign	Het
Pon2	T	C	6: 5,265,425 (GRCm39)	I321V	probably benign	Het
Prss54	T	A	8: 96,291,094 (GRCm39)	M169L	probably damaging	Het
Rps3	T	A	7: 99,132,938 (GRCm39)		probably benign	Het
Senp1	T	C	15: 97,962,748 (GRCm39)	D312G	probably damaging	Het
Serpina10	T	A	12: 103,583,107 (GRCm39)	T446S	possibly damaging	Het
Slc7a11	A	G	3: 50,372,435 (GRCm39)		probably null	Het
Tgfbrap1	G	C	1: 43,095,829 (GRCm39)	C536W	probably damaging	Het
Trip11	C	T	12: 101,879,063 (GRCm39)	G9S	unknown	Het
Zfp626	C	A	7: 27,517,670 (GRCm39)	T217K	possibly 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
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'- AGTTCTCCTGGGTCTAACTGG -3'
(R):5'- AGGTAGATCTGATCGGCGTAG -3'

Sequencing Primer
(F):5'- TCCTGGGTCTAACTGGAGTCC -3'
(R):5'- AGATCTGATCGGCGTAGTAGTAGATC -3'

Posted On

2020-07-28