Mutagenetix > Incidental Mutation

Incidental Mutation 'R0544:Slc5a2'

44686

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

038736-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0544 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

127864855-127871602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127869171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 317 (Y317F)

Ref Sequence

ENSEMBL: ENSMUSP00000112597 (fasta)

Gene Model

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

AlphaFold

Q923I7

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

probably benign
Transcript: ENSMUST00000033045
AA Change: Y276F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably damaging
Transcript: ENSMUST00000118169
AA Change: Y317F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: Y317F

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

probably damaging
Transcript: ENSMUST00000205720
AA Change: Y317F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000206716
AA Change: Y100F

Predicted Effect

probably benign
Transcript: ENSMUST00000206703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147091

Predicted Effect

probably benign
Transcript: ENSMUST00000206909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171335

Predicted Effect

probably benign
Transcript: ENSMUST00000153418

Meta Mutation Damage Score

0.2685

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (97/99)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,394,763 (GRCm39)	F130L	probably benign	Het
Aatf	C	T	11: 84,313,831 (GRCm39)	R511Q	probably benign	Het
Acot12	A	T	13: 91,932,775 (GRCm39)	D516V	probably benign	Het
Adgrb2	T	C	4: 129,911,335 (GRCm39)	V1207A	probably damaging	Het
Akap9	A	G	5: 4,119,185 (GRCm39)	D3564G	probably benign	Het
Arl8b	C	T	6: 108,760,189 (GRCm39)		probably benign	Het
Atf6b	T	C	17: 34,867,273 (GRCm39)		probably null	Het
Atrn	G	A	2: 130,828,746 (GRCm39)	G1097D	probably damaging	Het
Btbd6	A	G	12: 112,940,702 (GRCm39)	E61G	probably damaging	Het
Car15	A	G	16: 17,653,680 (GRCm39)		probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Carmil2	C	T	8: 106,417,867 (GRCm39)	A654V	probably damaging	Het
Ccdc88b	A	G	19: 6,834,634 (GRCm39)	L124P	probably damaging	Het
Ccnd1	A	G	7: 144,491,023 (GRCm39)		probably benign	Het
Cenph	A	G	13: 100,909,249 (GRCm39)	S53P	probably damaging	Het
Chrm3	T	A	13: 9,927,615 (GRCm39)	I474F	probably damaging	Het
Cln8	T	A	8: 14,946,769 (GRCm39)	V261E	probably benign	Het
Coa6	A	G	8: 127,149,499 (GRCm39)	D25G	probably benign	Het
Col4a1	T	G	8: 11,276,487 (GRCm39)		probably benign	Het
Cpxm1	T	C	2: 130,235,055 (GRCm39)	H588R	probably damaging	Het
Cul7	T	C	17: 46,974,470 (GRCm39)	L1516P	possibly damaging	Het
Dcdc5	A	G	2: 106,181,909 (GRCm39)		noncoding transcript	Het
Ddx5	T	C	11: 106,673,288 (GRCm39)		probably benign	Het
Dhx16	C	A	17: 36,192,551 (GRCm39)	P161Q	probably benign	Het
Dpy19l1	A	T	9: 24,396,406 (GRCm39)		probably benign	Het
Fastkd5	A	G	2: 130,457,216 (GRCm39)	V458A	probably damaging	Het
Fhit	A	G	14: 9,870,172 (GRCm38)	V99A	probably damaging	Het
Fndc3a	A	T	14: 72,795,062 (GRCm39)		probably benign	Het
Foxd4	A	T	19: 24,877,182 (GRCm39)	S339R	possibly damaging	Het
Gm10842	T	A	11: 105,037,880 (GRCm39)	D54E	unknown	Het
Gns	T	A	10: 121,212,172 (GRCm39)	Y94*	probably null	Het
Gp2	A	G	7: 119,053,719 (GRCm39)	W81R	probably benign	Het
Hdac5	T	G	11: 102,086,922 (GRCm39)	Q46P	probably damaging	Het
Homer2	A	C	7: 81,299,426 (GRCm39)	V13G	probably damaging	Het
Irs3	A	G	5: 137,642,101 (GRCm39)	S446P	probably benign	Het
Ism2	G	T	12: 87,332,113 (GRCm39)	D141E	probably damaging	Het
Jak1	T	A	4: 101,048,822 (GRCm39)	M19L	probably benign	Het
Kcnd3	C	A	3: 105,566,075 (GRCm39)	R419S	probably damaging	Het
Lamb1	T	C	12: 31,332,694 (GRCm39)	F272S	probably damaging	Het
Ldlrad2	T	G	4: 137,299,579 (GRCm39)	T82P	possibly damaging	Het
Lrp2	T	C	2: 69,322,275 (GRCm39)	K1885E	probably benign	Het
Mbd5	T	C	2: 49,147,221 (GRCm39)	V477A	possibly damaging	Het
Mrps33	A	T	6: 39,782,488 (GRCm39)	M11K	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myom2	T	A	8: 15,119,796 (GRCm39)	V184E	probably damaging	Het
Ncor1	C	A	11: 62,224,602 (GRCm39)	G1210V	probably damaging	Het
Ncor1	C	T	11: 62,224,603 (GRCm39)	G1210R	probably damaging	Het
Nlrp4a	A	G	7: 26,156,555 (GRCm39)	D760G	probably benign	Het
Noc4l	A	G	5: 110,798,989 (GRCm39)	V231A	possibly damaging	Het
Or2at1	T	C	7: 99,416,867 (GRCm39)	I166T	probably benign	Het
Or4c112	T	C	2: 88,854,170 (GRCm39)	Y59C	probably damaging	Het
Or4f14	A	T	2: 111,742,905 (GRCm39)	Y123*	probably null	Het
Or4n4b	A	T	14: 50,536,139 (GRCm39)	V209E	probably benign	Het
Or52ab7	T	A	7: 102,977,858 (GRCm39)	I55N	probably damaging	Het
Or5b98	A	G	19: 12,931,066 (GRCm39)	T38A	possibly damaging	Het
Or5h25	T	A	16: 58,930,588 (GRCm39)	K128N	probably benign	Het
Or8k23	T	C	2: 86,186,007 (GRCm39)	T240A	probably damaging	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Patj	T	A	4: 98,457,347 (GRCm39)	M1283K	probably damaging	Het
Pkd1	C	T	17: 24,804,657 (GRCm39)	T790I	probably damaging	Het
Plod3	C	A	5: 137,020,465 (GRCm39)	T526K	probably benign	Het
Plxnb2	C	A	15: 89,042,816 (GRCm39)		probably benign	Het
Polr1g	G	T	7: 19,093,066 (GRCm39)	P38Q	probably damaging	Het
Pramel1	T	A	4: 143,124,175 (GRCm39)	D283E	possibly damaging	Het
Prpf40a	T	C	2: 53,031,663 (GRCm39)		probably benign	Het
Psg23	A	T	7: 18,348,607 (GRCm39)	Y67N	probably damaging	Het
Rftn1	T	A	17: 50,301,289 (GRCm39)	Q242L	possibly damaging	Het
Rp1l1	A	T	14: 64,269,515 (GRCm39)	E1700D	probably benign	Het
Scube3	T	C	17: 28,383,127 (GRCm39)	F435S	probably damaging	Het
Sdk2	T	C	11: 113,671,836 (GRCm39)	Y2104C	probably damaging	Het
Septin11	A	G	5: 93,313,227 (GRCm39)	E358G	possibly damaging	Het
Sh3bp1	T	C	15: 78,789,975 (GRCm39)	L246P	probably damaging	Het
Sis	T	C	3: 72,858,975 (GRCm39)	Y352C	probably damaging	Het
Skint1	T	C	4: 111,878,562 (GRCm39)	S165P	probably damaging	Het
Skint10	C	T	4: 112,586,008 (GRCm39)		probably benign	Het
Slc1a2	A	T	2: 102,586,417 (GRCm39)	R340S	probably damaging	Het
Slc26a3	C	A	12: 31,497,739 (GRCm39)	Q48K	probably benign	Het
Sorbs3	T	A	14: 70,431,375 (GRCm39)	T262S	probably benign	Het
Tas2r118	G	T	6: 23,969,400 (GRCm39)	S220R	probably damaging	Het
Terf2ip	C	A	8: 112,741,974 (GRCm39)	Q223K	possibly damaging	Het
Tespa1	A	G	10: 130,196,680 (GRCm39)	Q206R	probably damaging	Het
Tex10	T	C	4: 48,462,766 (GRCm39)		probably null	Het
Tle1	T	A	4: 72,043,227 (GRCm39)	K547N	probably damaging	Het
Tmem131l	T	A	3: 83,805,853 (GRCm39)	Q1530L	probably damaging	Het
Tomm20l	A	G	12: 71,169,851 (GRCm39)	E145G	possibly damaging	Het
Tra2a	C	T	6: 49,227,885 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim37	T	A	11: 87,036,328 (GRCm39)	Y121*	probably null	Het
Tube1	C	T	10: 39,016,941 (GRCm39)		probably null	Het
Usp6nl	T	A	2: 6,425,820 (GRCm39)	V187D	probably damaging	Het
Vmn1r13	T	C	6: 57,187,248 (GRCm39)	F136L	probably benign	Het
Vmn1r201	A	T	13: 22,659,316 (GRCm39)	I177F	probably benign	Het
Vmn1r203	A	T	13: 22,708,443 (GRCm39)	T75S	possibly damaging	Het
Vmn1r225	C	T	17: 20,722,718 (GRCm39)	S53L	probably benign	Het
Xab2	A	T	8: 3,660,994 (GRCm39)	W707R	probably damaging	Het
Zfp808	T	C	13: 62,317,248 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,926,575 (GRCm39)	Y159H	possibly damaging	Het

Other mutations in Slc5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc5a2	APN	7	127,869,794 (GRCm39)	missense	probably benign	0.07
IGL03084:Slc5a2	APN	7	127,865,776 (GRCm39)	missense	probably benign	0.25
dregs	UTSW	7	127,866,677 (GRCm39)	splice site	probably null
jimbee	UTSW	7	0 ()	large deletion
R0026:Slc5a2	UTSW	7	127,869,225 (GRCm39)	missense	probably damaging	1.00
R0395:Slc5a2	UTSW	7	127,866,654 (GRCm39)	missense	probably damaging	1.00
R0762:Slc5a2	UTSW	7	127,866,654 (GRCm39)	missense	probably damaging	1.00
R0966:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R0968:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R1382:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R1383:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R1385:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R1467:Slc5a2	UTSW	7	127,870,428 (GRCm39)	unclassified	probably benign
R4836:Slc5a2	UTSW	7	127,866,677 (GRCm39)	splice site	probably null
R4983:Slc5a2	UTSW	7	127,870,982 (GRCm39)	makesense	probably null
R5703:Slc5a2	UTSW	7	127,869,787 (GRCm39)	missense	possibly damaging	0.77
R6185:Slc5a2	UTSW	7	127,870,349 (GRCm39)	missense	probably damaging	0.98
R6696:Slc5a2	UTSW	7	127,869,215 (GRCm39)	missense	probably damaging	1.00
R6969:Slc5a2	UTSW	7	127,871,249 (GRCm39)	missense	probably benign	0.00
R7062:Slc5a2	UTSW	7	127,869,212 (GRCm39)	missense	probably damaging	0.99
R7576:Slc5a2	UTSW	7	127,864,977 (GRCm39)	missense	probably damaging	1.00
R7747:Slc5a2	UTSW	7	127,865,567 (GRCm39)	splice site	probably null
R7802:Slc5a2	UTSW	7	127,870,970 (GRCm39)	missense	possibly damaging	0.80
R7915:Slc5a2	UTSW	7	127,864,966 (GRCm39)	missense	probably damaging	0.96
R8027:Slc5a2	UTSW	7	127,869,718 (GRCm39)	missense	probably damaging	1.00
R8194:Slc5a2	UTSW	7	127,870,328 (GRCm39)	missense	probably benign	0.33
R8710:Slc5a2	UTSW	7	127,864,966 (GRCm39)	missense	probably damaging	0.96
R9210:Slc5a2	UTSW	7	127,867,939 (GRCm39)	missense	probably damaging	1.00
R9212:Slc5a2	UTSW	7	127,867,939 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2013-06-11