Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Slc5a2'

189174

Institutional Source

Beutler Lab

Gene Symbol

Slc5a2

Ensembl Gene

ENSMUSG00000030781

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 2

Synonyms

Sglt2

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

128265657-128272430 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128270053 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 335 (I335N)

Ref Sequence

ENSEMBL: ENSMUSP00000145581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033044] [ENSMUST00000033045] [ENSMUST00000118169] [ENSMUST00000126263] [ENSMUST00000137038] [ENSMUST00000142841] [ENSMUST00000153418] [ENSMUST00000205720] [ENSMUST00000206909]

Predicted Effect

probably benign
Transcript: ENSMUST00000033044

SMART Domains

Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780

Domain	Start	End	E-Value	Type
Pfam:DUF647	62	301	5.6e-97	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033045
AA Change: I294N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000118169
AA Change: I335N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: I335N

Domain	Start	End	E-Value	Type
Pfam:SSF	53	490	7e-170	PFAM
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	566	577	N/A	INTRINSIC
low complexity region	615	635	N/A	INTRINSIC
transmembrane domain	650	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126263

SMART Domains

Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780

Domain	Start	End	E-Value	Type
Pfam:DUF647	61	304	3e-102	PFAM
low complexity region	334	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136345

Predicted Effect

probably benign
Transcript: ENSMUST00000137038

SMART Domains

Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781

Domain	Start	End	E-Value	Type
Pfam:SSF	1	103	3.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142841

SMART Domains

Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781

Domain	Start	End	E-Value	Type
Pfam:SSF	53	276	5.7e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147091

Predicted Effect

probably benign
Transcript: ENSMUST00000153418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171335

Predicted Effect

probably damaging
Transcript: ENSMUST00000205720
AA Change: I335N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000206703

Predicted Effect

unknown
Transcript: ENSMUST00000206716
AA Change: I118N

Predicted Effect

probably benign
Transcript: ENSMUST00000206909

Meta Mutation Damage Score

0.8086

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urine glucose, increased eating and drinking behaviors, increased circulating renin activity, decreased urine osmolality, decreased serum aldosterone levels, polyuria, and decreased glucose renal reabsorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372		probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Cdc16	T	A	8: 13,759,130		probably null	Het
Cep135	C	T	5: 76,606,734	R353*	probably null	Het
Cma1	A	T	14: 55,942,164	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909		probably benign	Het
Got1l1	C	T	8: 27,200,248	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527		probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Relt	C	A	7: 100,850,221	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468		probably benign	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Sstr1	T	A	12: 58,212,858	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236		probably null	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Unc5b	A	T	10: 60,774,592	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vmn2r61	T	G	7: 42,275,474	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Slc5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc5a2	APN	7	128270622	missense	probably benign	0.07
IGL03084:Slc5a2	APN	7	128266604	missense	probably benign	0.25
dregs	UTSW	7	128267505	splice site	probably null
jimbee	UTSW	7		large deletion
R0395:Slc5a2	UTSW	7	128267482	missense	probably damaging	1.00
R0544:Slc5a2	UTSW	7	128269999	missense	probably damaging	1.00
R0762:Slc5a2	UTSW	7	128267482	missense	probably damaging	1.00
R0966:Slc5a2	UTSW	7	128270631	missense	probably damaging	1.00
R0968:Slc5a2	UTSW	7	128270631	missense	probably damaging	1.00
R1382:Slc5a2	UTSW	7	128270631	missense	probably damaging	1.00
R1383:Slc5a2	UTSW	7	128270631	missense	probably damaging	1.00
R1385:Slc5a2	UTSW	7	128270631	missense	probably damaging	1.00
R1467:Slc5a2	UTSW	7	128271256	unclassified	probably benign
R4836:Slc5a2	UTSW	7	128267505	splice site	probably null
R4983:Slc5a2	UTSW	7	128271810	makesense	probably null
R5703:Slc5a2	UTSW	7	128270615	missense	possibly damaging	0.77
R6185:Slc5a2	UTSW	7	128271177	missense	probably damaging	0.98
R6696:Slc5a2	UTSW	7	128270043	missense	probably damaging	1.00
R6969:Slc5a2	UTSW	7	128272077	missense	probably benign	0.00
R7062:Slc5a2	UTSW	7	128270040	missense	probably damaging	0.99
R7576:Slc5a2	UTSW	7	128265805	missense	probably damaging	1.00
R7747:Slc5a2	UTSW	7	128266395	synonymous	probably null
R7802:Slc5a2	UTSW	7	128271798	missense	possibly damaging	0.80
R8027:Slc5a2	UTSW	7	128270546	missense	probably damaging	1.00
R8194:Slc5a2	UTSW	7	128271156	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TCCCCTTATCCCATGTGAGTTACAGG -3'
(R):5'- TAGTGTGAACGGCGAATCAGGTCC -3'

Sequencing Primer
(F):5'- ATCTGGATGCCCCTTATCCCAT -3'
(R):5'- TCTGGATGTGGGTCACAGTA -3'

Posted On

2014-05-13