Mutagenetix > Incidental Mutation

Incidental Mutation 'R6547:Slc2a5'

521260

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

044672-MU

Accession Numbers

Essential gene?

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

Stock #

R6547 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150203801-150228625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150220076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 164 (V164D)

Ref Sequence

ENSEMBL: ENSMUSP00000030826 (fasta)

Gene Model

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

AlphaFold

Q9WV38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030826
AA Change: V164D

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030826
Gene: ENSMUSG00000028976
AA Change: V164D

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,490,251 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,224,757 (GRCm39)	V490E	probably benign	Het
Abca2	G	T	2: 25,323,350 (GRCm39)	G106V	possibly damaging	Het
Ablim3	T	C	18: 61,957,000 (GRCm39)	T276A	probably benign	Het
Anxa7	A	G	14: 20,519,461 (GRCm39)	V119A	probably benign	Het
Arl9	A	G	5: 77,158,257 (GRCm39)		probably null	Het
Atm	T	C	9: 53,351,457 (GRCm39)	Y2964C	probably damaging	Het
Bbs9	T	C	9: 22,425,365 (GRCm39)	Y140H	probably benign	Het
Calcr	A	T	6: 3,717,177 (GRCm39)	D94E	probably damaging	Het
Celsr3	T	A	9: 108,706,327 (GRCm39)	Y937N	probably damaging	Het
Cemip2	A	T	19: 21,822,195 (GRCm39)	T1197S	probably benign	Het
Clca3a1	C	T	3: 144,442,708 (GRCm39)	A779T	probably damaging	Het
Clec9a	T	A	6: 129,393,339 (GRCm39)	V94D	probably benign	Het
Colec12	G	T	18: 9,840,351 (GRCm39)	L57F	probably damaging	Het
Fa2h	T	C	8: 112,074,652 (GRCm39)	Y317C	probably damaging	Het
Flnc	A	G	6: 29,448,607 (GRCm39)	T1282A	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Hcn2	G	T	10: 79,552,986 (GRCm39)	V162L	probably benign	Het
Hycc1	T	C	5: 24,170,098 (GRCm39)	N417S	probably benign	Het
Kbtbd11	T	A	8: 15,077,641 (GRCm39)	V80E	possibly damaging	Het
Lama4	A	G	10: 38,949,652 (GRCm39)	D915G	probably damaging	Het
Limch1	A	T	5: 67,186,117 (GRCm39)	E806V	probably damaging	Het
Mppe1	T	C	18: 67,362,059 (GRCm39)	I169V	probably benign	Het
Msc	A	C	1: 14,825,969 (GRCm39)	S2A	possibly damaging	Het
Nploc4	A	G	11: 120,319,348 (GRCm39)		probably null	Het
Nr3c2	A	T	8: 77,635,438 (GRCm39)	I180F	possibly damaging	Het
Nrap	G	T	19: 56,339,998 (GRCm39)	H840N	probably benign	Het
Or8a1	T	A	9: 37,641,791 (GRCm39)	M163L	probably benign	Het
Pate13	T	A	9: 35,819,781 (GRCm39)	M15K	probably null	Het
Pdlim1	G	A	19: 40,211,564 (GRCm39)	T243I	probably damaging	Het
Pfkl	T	A	10: 77,831,188 (GRCm39)	M318L	probably benign	Het
Rap1gds1	C	A	3: 138,661,099 (GRCm39)	R426L	probably damaging	Het
Ric1	A	G	19: 29,572,226 (GRCm39)	N674D	probably damaging	Het
Rp1	G	A	1: 4,240,528 (GRCm39)	T875I	unknown	Het
Rtn1	G	T	12: 72,355,535 (GRCm39)	S137Y	possibly damaging	Het
Scn2a	A	G	2: 65,546,241 (GRCm39)	I935V	probably benign	Het
Serpina1a	C	T	12: 103,822,180 (GRCm39)	V251M	probably damaging	Het
Slc19a3	A	G	1: 83,000,621 (GRCm39)	V132A	probably damaging	Het
Slc26a6	T	A	9: 108,737,981 (GRCm39)		probably null	Het
Slc4a1	T	A	11: 102,247,561 (GRCm39)	T441S	probably damaging	Het
Stk33	T	C	7: 108,920,042 (GRCm39)	I366V	possibly damaging	Het
Syt14	G	T	1: 192,584,177 (GRCm39)	H696N	possibly damaging	Het
Tcaim	T	A	9: 122,643,531 (GRCm39)	V77D	probably benign	Het
Tefm	T	G	11: 80,031,210 (GRCm39)		probably null	Het
Tekt3	T	A	11: 62,961,304 (GRCm39)	S158T	possibly damaging	Het
Tspan11	T	A	6: 127,926,766 (GRCm39)	M238K	possibly damaging	Het
Unc5c	A	T	3: 141,495,780 (GRCm39)	T476S	probably benign	Het
Usp9y	A	T	Y: 1,444,612 (GRCm39)	L109Q	probably damaging	Homo
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps13c	C	A	9: 67,880,647 (GRCm39)	Q3495K	probably damaging	Het
Zbtb10	G	A	3: 9,316,763 (GRCm39)	A192T	probably benign	Het
Zfp316	A	T	5: 143,239,952 (GRCm39)	V689D	probably damaging	Het
Zswim1	A	G	2: 164,666,716 (GRCm39)		probably benign	Het
Zswim5	T	C	4: 116,844,100 (GRCm39)	L1046P	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
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'- TTCGAAGACACAGTTGGTTTCTAC -3'
(R):5'- GTCTCCACTGGACATAACAGGG -3'

Sequencing Primer
(F):5'- GGCACCAGATCTCACTATAGATTG -3'
(R):5'- TCCACTGGACATAACAGGGAAGTC -3'

Posted On

2018-06-06