Mutagenetix > Incidental Mutation

Incidental Mutation 'R0519:Slc2a2'

48371

Institutional Source

Beutler Lab

Gene Symbol

Slc2a2

Ensembl Gene

ENSMUSG00000027690

Gene Name

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

Synonyms

liver-type glucose transporter, Glut2, Glut-2

MMRRC Submission

038712-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28752052-28782510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28772965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 253 (V253I)

Ref Sequence

ENSEMBL: ENSMUSP00000029240 (fasta)

Gene Model

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

AlphaFold

P14246

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029240
AA Change: V253I

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: V253I

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

0.0706

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.6%
20x: 93.2%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,696,067 (GRCm39)	R168G	probably benign	Het
2810004N23Rik	C	T	8: 125,566,668 (GRCm39)	G251R	possibly damaging	Het
3425401B19Rik	A	G	14: 32,384,919 (GRCm39)	S349P	possibly damaging	Het
Ackr4	A	G	9: 103,976,650 (GRCm39)	V99A	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Asxl3	A	G	18: 22,656,577 (GRCm39)	Q1529R	possibly damaging	Het
Atg12	T	C	18: 46,874,477 (GRCm39)	E46G	probably benign	Het
Cdcp2	A	G	4: 106,964,389 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,318,089 (GRCm39)		probably benign	Het
Clip2	A	G	5: 134,545,005 (GRCm39)	V383A	probably benign	Het
Cntln	C	T	4: 84,923,290 (GRCm39)		probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Csmd2	A	C	4: 128,380,798 (GRCm39)	Y2118S	possibly damaging	Het
Dip2c	T	A	13: 9,613,244 (GRCm39)	V415E	probably damaging	Het
Dpy19l2	C	T	9: 24,469,391 (GRCm39)	R755Q	probably benign	Het
Dsn1	A	T	2: 156,840,633 (GRCm39)		probably benign	Het
Dtd2	T	C	12: 52,051,742 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 6,027,399 (GRCm39)	T602A	probably benign	Het
Ercc6	A	C	14: 32,248,799 (GRCm39)	D450A	probably damaging	Het
Fgf12	A	T	16: 28,008,380 (GRCm39)	V104D	probably benign	Het
Frem1	A	T	4: 82,888,870 (GRCm39)		probably null	Het
Gcgr	G	T	11: 120,426,982 (GRCm39)	W88L	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Hapln1	A	G	13: 89,732,835 (GRCm39)		probably benign	Het
Hmgn3	T	C	9: 82,994,301 (GRCm39)	E40G	probably damaging	Het
Hsdl1	G	A	8: 120,292,450 (GRCm39)	A255V	probably damaging	Het
Hyls1	T	C	9: 35,472,499 (GRCm39)	K306E	probably damaging	Het
Jcad	C	T	18: 4,649,122 (GRCm39)		probably benign	Het
Kif14	C	A	1: 136,396,885 (GRCm39)	A397E	probably damaging	Het
Lcmt2	A	T	2: 120,969,825 (GRCm39)		probably null	Het
Lifr	T	C	15: 7,207,061 (GRCm39)	L524P	probably damaging	Het
Ly6g6f	T	C	17: 35,301,828 (GRCm39)	K209E	possibly damaging	Het
Macf1	G	A	4: 123,365,113 (GRCm39)	T1651I	probably benign	Het
Mapk4	T	C	18: 74,103,392 (GRCm39)	D39G	probably damaging	Het
Mbl1	A	G	14: 40,880,522 (GRCm39)	M137V	probably damaging	Het
Mcm10	G	A	2: 5,013,356 (GRCm39)	S92L	probably benign	Het
Mug1	A	G	6: 121,828,383 (GRCm39)	K265R	possibly damaging	Het
Mxra7	A	G	11: 116,701,612 (GRCm39)		probably null	Het
Neu3	G	A	7: 99,472,524 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,460,648 (GRCm39)	T2395A	probably benign	Het
Or1j1	T	A	2: 36,702,627 (GRCm39)	H159L	probably damaging	Het
Or5m9	A	T	2: 85,877,411 (GRCm39)	Y195F	probably benign	Het
Or6s1	T	A	14: 51,308,614 (GRCm39)	I79F	probably damaging	Het
Or7g34	A	T	9: 19,478,245 (GRCm39)	I145N	probably benign	Het
Osgepl1	T	C	1: 53,360,255 (GRCm39)	V327A	probably damaging	Het
Pcdhb21	T	C	18: 37,649,085 (GRCm39)	V738A	possibly damaging	Het
Plekha8	A	T	6: 54,599,092 (GRCm39)		probably benign	Het
Ptprq	A	C	10: 107,374,781 (GRCm39)		probably benign	Het
Pus10	T	A	11: 23,661,201 (GRCm39)	F263Y	probably benign	Het
Rad54b	A	T	4: 11,599,809 (GRCm39)	I338F	probably damaging	Het
Rad54l2	A	G	9: 106,585,498 (GRCm39)	F756L	probably damaging	Het
Scn11a	A	G	9: 119,619,185 (GRCm39)	L719P	probably damaging	Het
Slc39a4	A	T	15: 76,499,338 (GRCm39)	N192K	probably benign	Het
Soat1	T	A	1: 156,268,816 (GRCm39)	I245F	probably damaging	Het
Sorcs2	G	A	5: 36,188,534 (GRCm39)	A858V	probably benign	Het
Tcim	T	C	8: 24,928,651 (GRCm39)	T88A	possibly damaging	Het
Tecta	G	A	9: 42,259,188 (GRCm39)		probably benign	Het
Tgm5	C	A	2: 120,879,376 (GRCm39)	L553F	probably damaging	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmem214	A	C	5: 31,027,012 (GRCm39)	M1L	probably null	Het
Togaram1	T	C	12: 65,012,776 (GRCm39)		probably benign	Het
Topaz1	C	A	9: 122,578,544 (GRCm39)	L485I	possibly damaging	Het
Ttn	T	C	2: 76,548,626 (GRCm39)		probably benign	Het
Ube2o	A	G	11: 116,437,285 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,734,465 (GRCm39)	D246E	probably benign	Het
Vcpkmt	T	C	12: 69,629,102 (GRCm39)	D132G	probably benign	Het
Vmn2r111	T	A	17: 22,792,102 (GRCm39)	Q51H	probably benign	Het
Vmn2r95	C	T	17: 18,659,765 (GRCm39)	P170S	probably damaging	Het
Zbtb38	A	G	9: 96,567,826 (GRCm39)	I1086T	probably damaging	Het
Zfp444	G	A	7: 6,191,172 (GRCm39)	A118T	probably benign	Het
Zp2	A	G	7: 119,737,372 (GRCm39)	I272T	probably damaging	Het

Other mutations in Slc2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Slc2a2	APN	3	28,772,890 (GRCm39)	missense	possibly damaging	0.86
IGL01582:Slc2a2	APN	3	28,762,637 (GRCm39)	missense	probably benign	0.01
IGL01762:Slc2a2	APN	3	28,771,621 (GRCm39)	missense	probably damaging	1.00
IGL01942:Slc2a2	APN	3	28,759,952 (GRCm39)	missense	probably damaging	1.00
IGL02128:Slc2a2	APN	3	28,773,550 (GRCm39)	missense	probably damaging	1.00
IGL02218:Slc2a2	APN	3	28,752,174 (GRCm39)	missense	possibly damaging	0.94
IGL02278:Slc2a2	APN	3	28,771,604 (GRCm39)	missense	probably damaging	0.99
IGL02507:Slc2a2	APN	3	28,781,260 (GRCm39)	missense	probably benign	0.00
IGL02649:Slc2a2	APN	3	28,772,885 (GRCm39)	missense	probably damaging	0.97
IGL03323:Slc2a2	APN	3	28,780,439 (GRCm39)	missense	probably damaging	1.00
IGL03147:Slc2a2	UTSW	3	28,773,519 (GRCm39)	missense	possibly damaging	0.56
R0063:Slc2a2	UTSW	3	28,771,589 (GRCm39)	missense	probably damaging	0.98
R0063:Slc2a2	UTSW	3	28,771,589 (GRCm39)	missense	probably damaging	0.98
R0365:Slc2a2	UTSW	3	28,762,828 (GRCm39)	critical splice donor site	probably null
R0494:Slc2a2	UTSW	3	28,781,426 (GRCm39)	missense	probably benign	0.01
R1292:Slc2a2	UTSW	3	28,771,637 (GRCm39)	missense	probably damaging	1.00
R1755:Slc2a2	UTSW	3	28,767,811 (GRCm39)	splice site	probably null
R1965:Slc2a2	UTSW	3	28,773,634 (GRCm39)	missense	probably damaging	1.00
R1966:Slc2a2	UTSW	3	28,773,634 (GRCm39)	missense	probably damaging	1.00
R1982:Slc2a2	UTSW	3	28,771,590 (GRCm39)	missense	probably benign	0.36
R2937:Slc2a2	UTSW	3	28,772,920 (GRCm39)	missense	probably damaging	1.00
R3121:Slc2a2	UTSW	3	28,775,898 (GRCm39)	missense	probably benign	0.01
R3721:Slc2a2	UTSW	3	28,781,301 (GRCm39)	missense	probably damaging	1.00
R4799:Slc2a2	UTSW	3	28,771,681 (GRCm39)	critical splice donor site	probably null
R5206:Slc2a2	UTSW	3	28,762,756 (GRCm39)	missense	probably damaging	1.00
R6829:Slc2a2	UTSW	3	28,781,590 (GRCm39)	nonsense	probably null
R6864:Slc2a2	UTSW	3	28,775,874 (GRCm39)	missense	probably damaging	1.00
R6932:Slc2a2	UTSW	3	28,771,668 (GRCm39)	missense	probably benign	0.40
R7178:Slc2a2	UTSW	3	28,773,631 (GRCm39)	missense	possibly damaging	0.90
R7599:Slc2a2	UTSW	3	28,752,166 (GRCm39)	start codon destroyed	probably null	0.02
R7616:Slc2a2	UTSW	3	28,781,260 (GRCm39)	missense	probably benign	0.00
R8879:Slc2a2	UTSW	3	28,767,951 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCATCTGGTTGAGTGCAAGAACACTG -3'
(R):5'- AGAAGGGTTATTTGGAAACCTCTGGC -3'

Sequencing Primer
(F):5'- TGTATGGGACTCACTAATGACAGC -3'
(R):5'- TTGGGGGAATACACTTCTCAC -3'

Posted On

2013-06-12