Mutagenetix > Incidental Mutations

Incidental Mutation 'R2937:Slc2a2'

255039

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

040514-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28697903-28731359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28718771 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 238 (C238G)

Ref Sequence

ENSEMBL: ENSMUSP00000029240 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029240
AA Change: C238G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: C238G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169047

Meta Mutation Damage Score

0.8644

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,659,127	E481G	probably damaging	Het
Anks1b	C	T	10: 90,077,066	T351M	probably damaging	Het
Arhgap45	T	A	10: 80,029,002	M933K	probably damaging	Het
Asph	A	C	4: 9,542,314		probably benign	Het
Bace2	T	C	16: 97,412,188		probably null	Het
BC051142	A	T	17: 34,421,862	H57L	possibly damaging	Het
Cacna1b	A	G	2: 24,606,528	V125A	probably benign	Het
Cbarp	T	C	10: 80,131,769	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Cdr1	T	G	X: 61,185,362	D66A	unknown	Het
Cela3b	A	G	4: 137,423,263	I208T	probably benign	Het
Clca3a2	T	A	3: 144,813,918	T232S	probably benign	Het
Col1a2	G	A	6: 4,519,882		probably benign	Het
Col1a2	A	T	6: 4,520,788	Q375L	possibly damaging	Het
Cpd	T	C	11: 76,811,859	N561S	probably damaging	Het
Csn1s1	A	T	5: 87,677,136	Q221L	possibly damaging	Het
Depdc5	G	A	5: 32,901,621		probably null	Het
Dnah10	T	C	5: 124,819,412		probably null	Het
Dsg2	T	C	18: 20,579,128	F107S	probably damaging	Het
Dthd1	A	G	5: 62,842,957	I541V	probably benign	Het
Eml6	G	A	11: 29,833,049		probably benign	Het
Fermt2	A	C	14: 45,504,491		probably null	Het
Gimap8	A	T	6: 48,658,796	R498S	possibly damaging	Het
Glis1	A	G	4: 107,632,291	N692D	possibly damaging	Het
Grtp1	G	A	8: 13,189,755		probably benign	Het
Hecw1	G	T	13: 14,245,836	Q1001K	possibly damaging	Het
Hydin	T	C	8: 110,404,295	V606A	possibly damaging	Het
Krt33b	T	A	11: 100,024,009	N388I	probably benign	Het
Lipf	T	C	19: 33,973,038	Y277H	probably damaging	Het
Lmod1	A	G	1: 135,363,916	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,243,652	M31L	probably benign	Het
Maats1	A	T	16: 38,311,038	I471N	possibly damaging	Het
Man1c1	A	G	4: 134,702,952	I173T	possibly damaging	Het
Med17	T	C	9: 15,275,891	K196E	probably damaging	Het
Mmp25	T	A	17: 23,644,791	I22F	probably benign	Het
Nrg3	T	A	14: 38,371,008	N540I	possibly damaging	Het
Nsun5	C	T	5: 135,375,463	Q375*	probably null	Het
Olfr584	T	A	7: 103,086,341	H269Q	probably benign	Het
Olfr600	T	C	7: 103,346,065	M288V	probably benign	Het
Pcdh1	G	T	18: 38,189,762	A1006E	probably benign	Het
Pdss1	T	A	2: 22,906,787		probably null	Het
Plaa	G	A	4: 94,569,459	A758V	probably damaging	Het
Prl6a1	T	A	13: 27,315,320	W24R	probably damaging	Het
Ptk7	T	C	17: 46,572,550	H863R	probably damaging	Het
Rbm10	T	C	X: 20,647,695	L429P	possibly damaging	Het
Rhou	T	C	8: 123,661,141	I204T	possibly damaging	Het
Serpind1	G	T	16: 17,337,108	M266I	probably benign	Het
Sgcg	A	T	14: 61,229,625	F175L	probably damaging	Het
Slc39a8	A	G	3: 135,886,823	M420V	probably benign	Het
Slc7a9	C	A	7: 35,463,742	Y457*	probably null	Het
Smpd3	C	T	8: 106,264,820	R367H	probably damaging	Het
Sntb2	T	C	8: 106,936,097	V99A	probably benign	Het
Specc1l	T	G	10: 75,259,131	I796R	probably damaging	Het
Stfa2l1	G	T	16: 36,159,946	V29F	probably damaging	Het
Synrg	T	C	11: 83,994,354	F455S	probably damaging	Het
Tap2	T	C	17: 34,212,354	V422A	possibly damaging	Het
Tcf7	A	T	11: 52,282,783		probably null	Het
Tcp10a	A	G	17: 7,329,774	Y110C	probably damaging	Het
Thoc1	T	A	18: 9,959,255	S43R	probably damaging	Het
Tlr1	A	G	5: 64,925,908	V442A	probably damaging	Het
Tmub1	A	G	5: 24,445,924	*261Q	probably null	Het
Trpc3	G	A	3: 36,634,383	R836*	probably null	Het
Ube2u	T	C	4: 100,524,298	S185P	possibly damaging	Het
Vamp5	A	G	6: 72,369,340	V91A	probably benign	Het
Vcp	A	G	4: 42,980,846	Y755H	probably damaging	Het
Vmn1r35	A	T	6: 66,678,966	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,091,531	E389K	probably damaging	Het
Wdfy3	A	T	5: 101,944,122	F450L	probably benign	Het
Xpo4	G	T	14: 57,604,440	Q473K	probably benign	Het
Xpo7	A	G	14: 70,671,690	I797T	probably damaging	Het
Xylt1	C	A	7: 117,634,784	Q513K	probably benign	Het
Zfp229	T	C	17: 21,745,503	F238S	probably damaging	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
R1755:Slc2a2	UTSW	3	28713662	splice site	probably null
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
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

PCR Primer
(F):5'- TGCATTTCTGTAGAAGGCAAGC -3'
(R):5'- CTCACCGGTCACTTCTAAGTAAC -3'

Sequencing Primer
(F):5'- CCCAGAGTACTGTGCAGTTCATG -3'
(R):5'- GCCATAGCTAAGGCCTTTGTAGTC -3'

Posted On

2014-12-29