Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Slc2a2'

558746

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

045232-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28752052-28782510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28773631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 312 (A312V)

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: A312V

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029240
Gene: ENSMUSG00000027690
AA Change: A312V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	G	9: 54,535,745 (GRCm39)	I130T	possibly damaging	Het
Adam24	T	A	8: 41,133,039 (GRCm39)	L169*	probably null	Het
Als2	A	T	1: 59,246,971 (GRCm39)	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,688,599 (GRCm39)	N212K		Het
Anpep	T	C	7: 79,490,736 (GRCm39)	D260G	probably benign	Het
Arhgap17	A	T	7: 122,884,581 (GRCm39)		probably null	Het
Atad2	C	T	15: 57,980,689 (GRCm39)	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,874,099 (GRCm39)	M696K	probably benign	Het
Atp13a2	A	G	4: 140,726,462 (GRCm39)	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,850,979 (GRCm39)	D29G	possibly damaging	Het
Baz2a	C	T	10: 127,960,326 (GRCm39)	R1514W	probably damaging	Het
Cep250	T	A	2: 155,815,375 (GRCm39)	L631*	probably null	Het
Cimip2a	G	A	2: 25,110,252 (GRCm39)	V55I	probably damaging	Het
Clec4a3	T	C	6: 122,941,251 (GRCm39)	I82T	probably benign	Het
Csmd3	T	A	15: 47,454,170 (GRCm39)	I2648F		Het
Cul5	A	G	9: 53,555,826 (GRCm39)	F247L	probably benign	Het
Dnajc24	A	T	2: 105,800,807 (GRCm39)	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,344,200 (GRCm39)	V1848E	probably damaging	Het
Dspp	A	G	5: 104,321,932 (GRCm39)	T14A	probably benign	Het
Gm7298	T	G	6: 121,762,855 (GRCm39)	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,842,220 (GRCm39)	S62R	unknown	Het
Gtsf1	T	G	15: 103,328,388 (GRCm39)	N130T	probably benign	Het
Heatr5a	C	A	12: 51,971,925 (GRCm39)	S755I	probably damaging	Het
Hrc	A	G	7: 44,985,685 (GRCm39)	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,371,573 (GRCm39)	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,834 (GRCm39)	S256G	probably benign	Het
Insyn2b	G	T	11: 34,352,359 (GRCm39)	V134F	probably damaging	Het
Ipo13	A	G	4: 117,761,081 (GRCm39)	S546P	possibly damaging	Het
Katnip	T	C	7: 125,465,499 (GRCm39)	V1317A	probably benign	Het
Kif24	A	G	4: 41,395,085 (GRCm39)	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,555,275 (GRCm39)	V176A	probably benign	Het
Lgi1	T	C	19: 38,294,733 (GRCm39)	Y502H	probably damaging	Het
Liph	T	A	16: 21,795,078 (GRCm39)	D178V	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mak16	A	C	8: 31,656,602 (GRCm39)	S42A	probably benign	Het
Mamdc4	T	C	2: 25,458,977 (GRCm39)	I269V	probably benign	Het
Mapk8ip3	A	T	17: 25,120,728 (GRCm39)	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788 (GRCm38)	S889T	unknown	Het
Npy6r	A	G	18: 44,409,551 (GRCm39)	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,005,895 (GRCm39)	T489P	possibly damaging	Het
Or52a5b	G	A	7: 103,417,182 (GRCm39)	Q141*	probably null	Het
Or5h19	T	A	16: 58,856,296 (GRCm39)	D268V	probably benign	Het
Or5t17	G	A	2: 86,832,879 (GRCm39)	V189I	probably benign	Het
Otof	G	C	5: 30,540,878 (GRCm39)	T887S	possibly damaging	Het
Papola	T	C	12: 105,773,443 (GRCm39)	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,622,946 (GRCm39)	H1421R	probably benign	Het
Plpp5	T	C	8: 26,210,606 (GRCm39)	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,568,337 (GRCm39)	I154L	probably benign	Het
Prr18	A	C	17: 8,560,741 (GRCm39)	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,697,521 (GRCm39)	S198F	possibly damaging	Het
Qars1	T	C	9: 108,392,322 (GRCm39)	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,285,959 (GRCm39)	R185*	probably null	Het
Scn2a	C	T	2: 65,579,197 (GRCm39)	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,008,506 (GRCm39)	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,165,455 (GRCm39)	T175A	probably damaging	Het
Skic2	T	C	17: 35,058,440 (GRCm39)	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,317,259 (GRCm39)	I427V	possibly damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spcs1	G	A	14: 30,722,438 (GRCm39)	S127F	possibly damaging	Het
Speg	T	C	1: 75,399,027 (GRCm39)	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,117,481 (GRCm39)	I423F	probably damaging	Het
Synj2	T	A	17: 6,076,754 (GRCm39)	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,032,623 (GRCm39)	D45V	probably damaging	Het
Tcf3	C	A	10: 80,257,433 (GRCm39)	V11F	unknown	Het
Tead1	A	T	7: 112,441,144 (GRCm39)	Q91L	probably benign	Het
Tgm5	T	A	2: 120,916,249 (GRCm39)		probably benign	Het
Tgoln1	C	T	6: 72,593,028 (GRCm39)	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,755,264 (GRCm39)	N445K	probably benign	Het
Ttn	G	C	2: 76,540,514 (GRCm39)	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,356,424 (GRCm39)	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,887,006 (GRCm39)	L684F	probably damaging	Het
Zfp661	T	C	2: 127,419,456 (GRCm39)	D228G	probably benign	Het
Zfp738	T	C	13: 67,821,147 (GRCm39)	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,099,192 (GRCm39)	D378E	probably damaging	Het
Zswim9	T	A	7: 12,993,924 (GRCm39)	D744V	possibly 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
R0519:Slc2a2	UTSW	3	28,772,965 (GRCm39)	missense	possibly damaging	0.54
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
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'- TTTTGGGGAAACAGGCTTGAAG -3'
(R):5'- GGACCTAAAGTGCTATTGTTGAC -3'

Sequencing Primer
(F):5'- GCTTGAAGAGACTAAGAGGAACTG -3'
(R):5'- GAGCTAAATTTCGAGAGCCATTG -3'

Posted On

2019-06-26