Mutagenetix > Incidental Mutations

Incidental Mutation 'R1755:Slc2a2'

265955

Institutional Source

Beutler Lab

Gene Symbol

Slc2a2

Ensembl Gene

ENSMUSG00000027690

Gene Name

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

Synonyms

Glut2, liver-type glucose transporter, Glut-2

MMRRC Submission

039787-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28697903-28731359 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 28713662 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029240] [ENSMUST00000163536]

Predicted Effect

probably null
Transcript: ENSMUST00000029240

SMART Domains

Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690

Domain	Start	End	E-Value	Type
Pfam:MFS_1	9	442	4.2e-23	PFAM
Pfam:Sugar_tr	13	498	2.4e-165	PFAM
Pfam:Folate_carrier	187	458	5.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163536

SMART Domains

Protein: ENSMUSP00000131046
Gene: ENSMUSG00000027690

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	13	133	3.9e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167704

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice are hyperglycemic with hypoinsulinemia and die within 2-3 weeks of life displaying increased plasma levels of glucagon, free fatty acids and beta-hydroxybutyrate, abnormal glucose tolerance, and altered postnatal development of pancreatic islets. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	T	G	6: 40,926,162	Y92S	probably damaging	Het
4933402J07Rik	G	A	8: 87,588,957	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,222,294	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,276,564		probably null	Het
Adam23	G	A	1: 63,543,170	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,261,741	Y168*	probably null	Het
Ano6	A	G	15: 95,972,570	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,177,104	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,929,614	K30*	probably null	Het
Arl11	A	G	14: 61,310,944	T68A	probably benign	Het
Atg7	A	G	6: 114,673,677	T83A	possibly damaging	Het
Card9	T	C	2: 26,359,534	E5G	probably damaging	Het
Cars	A	G	7: 143,569,457	V474A	probably damaging	Het
Cd300ld2	A	G	11: 115,013,775	F89L	probably benign	Het
Celf2	T	A	2: 6,884,958	M1L	probably benign	Het
Cnot1	T	C	8: 95,724,577	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cox6b2	A	G	7: 4,751,938	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,636	Y1997F	probably damaging	Het
Epha4	A	T	1: 77,387,823	I683N	probably damaging	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Gm13103	T	C	4: 143,850,810	F3S	probably damaging	Het
Gmip	A	G	8: 69,814,124	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,166,901	S202P	probably damaging	Het
Ifi208	C	A	1: 173,677,910	D75E	possibly damaging	Het
Il24	T	C	1: 130,883,943	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,012,067	C124R	probably benign	Het
Kcnq3	A	T	15: 65,995,421	L791Q	probably damaging	Het
Kcns3	T	A	12: 11,091,444	D418V	probably benign	Het
Kif13a	A	G	13: 46,752,613	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,773,678	V1179E	possibly damaging	Het
Lpp	A	G	16: 24,845,124	I259V	probably benign	Het
Mapkapk2	A	G	1: 131,058,350		probably null	Het
March7	T	C	2: 60,234,921	S514P	probably benign	Het
Mgea5	A	T	19: 45,758,406	M735K	possibly damaging	Het
Nr4a2	T	A	2: 57,109,092	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,824,251	D328G	probably damaging	Het
Obox6	T	C	7: 15,834,520	K144E	probably damaging	Het
Olfml2b	G	A	1: 170,681,777	V565M	probably damaging	Het
Olfr412	T	C	11: 74,364,993	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114	A590V	possibly damaging	Het
Picalm	T	C	7: 90,160,549	S78P	possibly damaging	Het
Por	T	A	5: 135,729,485	Y105*	probably null	Het
Ppara	A	G	15: 85,797,979	K292R	probably benign	Het
Ralgds	T	A	2: 28,550,546	I844N	probably damaging	Het
Rttn	T	C	18: 89,009,317	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,501,716	V1261A	probably benign	Het
Slc5a7	T	C	17: 54,292,978	M136V	probably benign	Het
Smc4	C	A	3: 69,034,108	A1232E	probably damaging	Het
Smg1	A	T	7: 118,203,064	C270*	probably null	Het
Sparcl1	C	T	5: 104,092,824	E245K	probably benign	Het
Taf2	T	C	15: 55,016,454	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,397,973	D105G	probably benign	Het
Tmem62	T	C	2: 120,984,477		probably null	Het
Triobp	G	A	15: 78,966,479	A278T	probably benign	Het
Ufd1	T	G	16: 18,823,253	C151W	probably damaging	Het
Upk1b	T	G	16: 38,780,040	M193L	probably benign	Het
Usp15	A	G	10: 123,133,044	M334T	probably damaging	Het
Utp20	A	G	10: 88,809,769	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,611,303	L4*	probably null	Het
Vmn2r96	G	A	17: 18,582,653	G83D	possibly damaging	Het
Wdr60	A	G	12: 116,226,029	L620P	probably damaging	Het
Zbtb8a	T	C	4: 129,354,317	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,535,175	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043	V667A	probably benign	Het

Other mutations in Slc2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Slc2a2	APN	3	28718741	missense	possibly damaging	0.86
IGL01582:Slc2a2	APN	3	28708488	missense	probably benign	0.01
IGL01762:Slc2a2	APN	3	28717472	missense	probably damaging	1.00
IGL01942:Slc2a2	APN	3	28705803	missense	probably damaging	1.00
IGL02128:Slc2a2	APN	3	28719401	missense	probably damaging	1.00
IGL02218:Slc2a2	APN	3	28698025	missense	possibly damaging	0.94
IGL02278:Slc2a2	APN	3	28717455	missense	probably damaging	0.99
IGL02507:Slc2a2	APN	3	28727111	missense	probably benign	0.00
IGL02649:Slc2a2	APN	3	28718736	missense	probably damaging	0.97
IGL03323:Slc2a2	APN	3	28726290	missense	probably damaging	1.00
IGL03147:Slc2a2	UTSW	3	28719370	missense	possibly damaging	0.56
R0063:Slc2a2	UTSW	3	28717440	missense	probably damaging	0.98
R0063:Slc2a2	UTSW	3	28717440	missense	probably damaging	0.98
R0365:Slc2a2	UTSW	3	28708679	critical splice donor site	probably null
R0494:Slc2a2	UTSW	3	28727277	missense	probably benign	0.01
R0519:Slc2a2	UTSW	3	28718816	missense	possibly damaging	0.54
R1292:Slc2a2	UTSW	3	28717488	missense	probably damaging	1.00
R1965:Slc2a2	UTSW	3	28719485	missense	probably damaging	1.00
R1966:Slc2a2	UTSW	3	28719485	missense	probably damaging	1.00
R1982:Slc2a2	UTSW	3	28717441	missense	probably benign	0.36
R2937:Slc2a2	UTSW	3	28718771	missense	probably damaging	1.00
R3121:Slc2a2	UTSW	3	28721749	missense	probably benign	0.01
R3721:Slc2a2	UTSW	3	28727152	missense	probably damaging	1.00
R4799:Slc2a2	UTSW	3	28717532	critical splice donor site	probably null
R5206:Slc2a2	UTSW	3	28708607	missense	probably damaging	1.00
R6829:Slc2a2	UTSW	3	28727441	nonsense	probably null
R6864:Slc2a2	UTSW	3	28721725	missense	probably damaging	1.00
R6932:Slc2a2	UTSW	3	28717519	missense	probably benign	0.40
R7178:Slc2a2	UTSW	3	28719482	missense	possibly damaging	0.90
R7599:Slc2a2	UTSW	3	28698017	start codon destroyed	probably null	0.02
R7616:Slc2a2	UTSW	3	28727111	missense	probably benign	0.00

Predicted Primers

Posted On

2015-02-05