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

Glut2, liver-type glucose transporter, Glut-2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28697903-28731359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28719482 bp (GRCm38)

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: 54,628,461	I130T	possibly damaging	Het
Adam24	T	A	8: 40,680,000	L169*	probably null	Het
Als2	A	T	1: 59,207,812	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,649,440	N212K		Het
Anpep	T	C	7: 79,840,988	D260G	probably benign	Het
Arhgap17	A	T	7: 123,285,358		probably null	Het
Atad2	C	T	15: 58,117,293	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,819,950	M696K	probably benign	Het
Atp13a2	A	G	4: 140,999,151	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,943,672	D29G	possibly damaging	Het
Baz2a	C	T	10: 128,124,457	R1514W	probably damaging	Het
Cep250	T	A	2: 155,973,455	L631*	probably null	Het
Clec4a3	T	C	6: 122,964,292	I82T	probably benign	Het
Csmd3	T	A	15: 47,590,774	I2648F		Het
Cul5	A	G	9: 53,644,526	F247L	probably benign	Het
D430042O09Rik	T	C	7: 125,866,327	V1317A	probably benign	Het
Dnajc24	A	T	2: 105,970,462	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,694,993	V1848E	probably damaging	Het
Dspp	A	G	5: 104,174,066	T14A	probably benign	Het
Fam166a	G	A	2: 25,220,240	V55I	probably damaging	Het
Fam196b	G	T	11: 34,402,359	V134F	probably damaging	Het
Gm7298	T	G	6: 121,785,896	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,709,163	S62R	unknown	Het
Gtsf1	T	G	15: 103,419,961	N130T	probably benign	Het
Heatr5a	C	A	12: 51,925,142	S755I	probably damaging	Het
Hrc	A	G	7: 45,336,261	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,233,510	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,835	S256G	probably benign	Het
Ipo13	A	G	4: 117,903,884	S546P	possibly damaging	Het
Kif24	A	G	4: 41,395,085	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,671,074	V176A	probably benign	Het
Lgi1	T	C	19: 38,306,285	Y502H	probably damaging	Het
Liph	T	A	16: 21,976,328	D178V	probably damaging	Het
Maea	T	C	5: 33,358,510	V47A	probably damaging	Het
Mak16	A	C	8: 31,166,574	S42A	probably benign	Het
Mamdc4	T	C	2: 25,568,965	I269V	probably benign	Het
Mapk8ip3	A	T	17: 24,901,754	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788	S889T	unknown	Het
Npy6r	A	G	18: 44,276,484	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,356,147	T489P	possibly damaging	Het
Olfr1102	G	A	2: 87,002,535	V189I	probably benign	Het
Olfr187	T	A	16: 59,035,933	D268V	probably benign	Het
Olfr69	G	A	7: 103,767,975	Q141*	probably null	Het
Otof	G	C	5: 30,383,534	T887S	possibly damaging	Het
Papola	T	C	12: 105,807,184	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,715,630	H1421R	probably benign	Het
Plpp5	T	C	8: 25,720,579	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,518,337	I154L	probably benign	Het
Prr18	A	C	17: 8,341,909	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,477,259	S198F	possibly damaging	Het
Qars	T	C	9: 108,515,123	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,636,752	R185*	probably null	Het
Scn2a	C	T	2: 65,748,853	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,080,776	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,258,148	T175A	probably damaging	Het
Skiv2l	T	C	17: 34,839,464	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,667,511	I427V	possibly damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spcs1	G	A	14: 31,000,481	S127F	possibly damaging	Het
Speg	T	C	1: 75,422,383	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,418,056	I423F	probably damaging	Het
Synj2	T	A	17: 6,026,479	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,055,660	D45V	probably damaging	Het
Tcf3	C	A	10: 80,421,599	V11F	unknown	Het
Tead1	A	T	7: 112,841,937	Q91L	probably benign	Het
Tgm5	T	A	2: 121,085,768		probably benign	Het
Tgoln1	C	T	6: 72,616,045	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,827,539	N445K	probably benign	Het
Ttn	G	C	2: 76,710,170	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,136,162	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,996,994	L684F	probably damaging	Het
Zfp661	T	C	2: 127,577,536	D228G	probably benign	Het
Zfp738	T	C	13: 67,673,028	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,100,930	D378E	probably damaging	Het
Zswim9	T	A	7: 13,259,997	D744V	possibly 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
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
R7599:Slc2a2	UTSW	3	28698017	start codon destroyed	probably null	0.02
R7616:Slc2a2	UTSW	3	28727111	missense	probably benign	0.00
R8879:Slc2a2	UTSW	3	28713802	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