Mutagenetix > Incidental Mutations

Incidental Mutation 'R6932:Slc2a2'

554304

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28697903-28731359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28717519 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 158 (S158P)

Ref Sequence

ENSEMBL: ENSMUSP00000131046 (fasta)

Gene Model

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

Predicted Effect

silent
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
AA Change: S158P

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131046
Gene: ENSMUSG00000027690
AA Change: S158P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	CA	CAA	8: 13,734,865		probably null	Het
Acads	A	T	5: 115,112,272	F198I	probably damaging	Het
Acy1	A	G	9: 106,437,627		probably null	Het
Adk	A	G	14: 21,076,308	M1V	probably null	Het
Ahi1	A	G	10: 20,963,691	D167G	probably benign	Het
Ankrd16	T	C	2: 11,786,243	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,274,417	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,281,951	M673I	probably damaging	Het
BC005624	T	C	2: 30,978,928	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,589,321	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,942,627	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,322,621		probably null	Het
Cep170	G	A	1: 176,761,437	L541F	possibly damaging	Het
Cgrrf1	T	A	14: 46,853,722	N234K	probably benign	Het
Ctrc	C	T	4: 141,841,568	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,298,296	V192M	possibly damaging	Het
Dhx38	A	T	8: 109,552,675	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,287,776	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,821,450	N3765K	possibly damaging	Het
Dnah17	C	A	11: 118,060,079	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,331,336	T306I	probably benign	Het
Efemp2	T	A	19: 5,480,245	C287S	probably damaging	Het
Efna1	T	C	3: 89,272,784	R143G	probably benign	Het
Emilin1	A	C	5: 30,917,077	N221H	probably damaging	Het
Epg5	A	G	18: 77,948,609	T174A	probably benign	Het
Fam184b	T	A	5: 45,532,901		probably null	Het
Fchsd2	T	A	7: 101,277,414	C570*	probably null	Het
Gm4787	A	T	12: 81,379,200	D61E	probably benign	Het
Gm7356	C	T	17: 14,001,663	G35R	probably damaging	Het
Gm8220	A	G	14: 44,288,188	T20A	probably damaging	Het
Hivep2	C	T	10: 14,128,501	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,770,072	V43A	probably damaging	Het
Klhl33	A	T	14: 50,891,916	C619S	probably benign	Het
Kmt2a	A	T	9: 44,829,261		probably benign	Het
Lax1	A	G	1: 133,680,158	C282R	probably benign	Het
Lrrd1	A	G	5: 3,851,395	K567E	probably benign	Het
Luzp1	C	T	4: 136,540,813	R116*	probably null	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Macrod2	A	T	2: 140,419,913	N38I	probably damaging	Het
Map3k14	A	T	11: 103,242,132	I80N	probably damaging	Het
Mcm9	A	G	10: 53,620,203	S368P	probably benign	Het
Mfge8	T	C	7: 79,143,301	D139G	probably benign	Het
Mmp19	A	T	10: 128,791,654	I54F	probably benign	Het
Myo15	G	T	11: 60,499,494	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,710,458	V277L	probably benign	Het
Myoc	A	G	1: 162,639,346	D28G	probably damaging	Het
Myrf	G	T	19: 10,219,560	N487K	probably damaging	Het
Olfr1093	C	G	2: 86,786,155	L142V	probably damaging	Het
Olfr429	G	A	1: 174,089,750	A237T	probably damaging	Het
Olfr703	G	T	7: 106,844,802	G64*	probably null	Het
Omd	T	A	13: 49,590,234	F253L	probably damaging	Het
Papss1	T	G	3: 131,599,971	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,562,451	F580Y	probably benign	Het
Polk	T	A	13: 96,516,681	K70N	probably damaging	Het
Ppig	T	A	2: 69,732,411	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,633,292	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,341,558	D783G	probably benign	Het
Reln	T	C	5: 21,985,857	I1511V	probably benign	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Rpia	A	G	6: 70,773,440	V236A	probably benign	Het
Rpl10a	G	T	17: 28,329,450	V80L	probably benign	Het
Sap130	T	G	18: 31,666,354	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,142,793	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,707,434	S470P	probably benign	Het
Slc25a32	A	G	15: 39,097,589	V233A	possibly damaging	Het
Slc6a2	A	G	8: 92,996,025	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,452,511	T77K	probably benign	Het
Snd1	A	T	6: 28,626,101	D385V	probably benign	Het
Ssh3	A	T	19: 4,264,420	F369I	probably damaging	Het
Syk	A	G	13: 52,612,459		probably null	Het
Tbc1d16	A	G	11: 119,208,916	S211P	probably damaging	Het
Ttc3	A	G	16: 94,443,453	T1439A	probably benign	Het
Usp18	A	G	6: 121,252,514	M31V	probably benign	Het
Vav1	G	T	17: 57,302,330	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,678,075	V1863D	probably benign	Het
Xdh	T	A	17: 73,922,562	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,771,077		probably benign	Het
Zfp345	G	A	2: 150,473,411	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,763,841	V357L	probably benign	Het
Zfp712	A	T	13: 67,040,827	Y545*	probably null	Het
Zgrf1	T	C	3: 127,559,632		probably null	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
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
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'- GGGGACATCTGAAGTATGACTTTC -3'
(R):5'- TGAGGAGTGGAAATAAGTCACCTC -3'

Sequencing Primer
(F):5'- GGGCTAATTTCAGGACTG -3'
(R):5'- TGGAAATAAGTCACCTCTGAGC -3'

Posted On

2019-05-17