Mutagenetix > Incidental Mutation

Incidental Mutation 'R9210:Slc5a2'

698790

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

068983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127864855-127871602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127867939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 202 (Q202K)

Ref Sequence

ENSEMBL: ENSMUSP00000112597 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000033045
AA Change: Q161K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118169
AA Change: Q202K

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

SMART Domains

Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: Q202K

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

probably damaging
Transcript: ENSMUST00000137038
AA Change: Q85K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781
AA Change: Q85K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142841
AA Change: Q198K

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

SMART Domains

Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781
AA Change: Q198K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153418

Predicted Effect

probably damaging
Transcript: ENSMUST00000205720
AA Change: Q202K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000206703

Predicted Effect

probably benign
Transcript: ENSMUST00000206716

Predicted Effect

probably damaging
Transcript: ENSMUST00000206909
AA Change: Q178K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (74/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,287,165 (GRCm39)	D40G	probably damaging	Het
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Acod1	T	C	14: 103,292,526 (GRCm39)	V350A	possibly damaging	Het
Acot2	C	A	12: 84,034,851 (GRCm39)	P59Q	probably damaging	Het
Acyp1	A	T	12: 85,326,820 (GRCm39)	V10E	possibly damaging	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Agbl3	C	T	6: 34,775,177 (GRCm39)	T161I	probably damaging	Het
Ang6	T	C	14: 44,239,407 (GRCm39)	N107S	probably benign	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Arpc5	A	G	1: 152,642,603 (GRCm39)	D43G	probably null	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
Atp7b	T	C	8: 22,487,406 (GRCm39)	D1303G	probably damaging	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Catsper1	T	A	19: 5,391,535 (GRCm39)	V639E	probably benign	Het
Cbr1b	A	C	16: 93,427,127 (GRCm39)	S243R	possibly damaging	Het
Ccdc113	T	C	8: 96,283,874 (GRCm39)	F316S	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Cnn2	A	T	10: 79,828,373 (GRCm39)	M117L	probably benign	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Csgalnact1	T	C	8: 68,914,241 (GRCm39)		probably benign	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnaaf2	G	A	12: 69,244,602 (GRCm39)	A153V	probably damaging	Het
Egfem1	T	G	3: 29,207,743 (GRCm39)	C144W	probably damaging	Het
Ercc6	T	A	14: 32,291,822 (GRCm39)	I1062N	probably benign	Het
Ermap	A	T	4: 119,035,706 (GRCm39)	C427*	probably null	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fbxl14	T	C	6: 119,457,635 (GRCm39)	M272T	probably benign	Het
Grm7	T	A	6: 110,622,869 (GRCm39)	M14K	probably benign	Het
Herc6	A	G	6: 57,639,350 (GRCm39)	Y906C	probably damaging	Het
Hps4	C	A	5: 112,497,227 (GRCm39)	T70N	possibly damaging	Het
Hspg2	A	G	4: 137,289,790 (GRCm39)	H3880R	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Igkv13-84	G	T	6: 68,916,886 (GRCm39)	G61V	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Mtus2	T	A	5: 148,014,124 (GRCm39)	S306T	probably benign	Het
Ncl	G	A	1: 86,280,239 (GRCm39)	P523S	probably benign	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Ntng1	A	T	3: 109,779,633 (GRCm39)	C315S	probably damaging	Het
Nyap2	C	T	1: 81,219,042 (GRCm39)	P355S	probably damaging	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Pck2	G	A	14: 55,779,907 (GRCm39)	R52H	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Pink1	A	G	4: 138,053,278 (GRCm39)	F85L	probably benign	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Prkg2	T	C	5: 99,095,333 (GRCm39)	T613A	probably damaging	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rag1	T	C	2: 101,474,852 (GRCm39)	S97G	probably benign	Het
Rai1	C	T	11: 60,080,217 (GRCm39)	P1427L	probably benign	Het
Rrp15	G	C	1: 186,471,922 (GRCm39)	A95G	probably damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Scoc	T	C	8: 84,162,543 (GRCm39)	K121R	possibly damaging	Het
Septin5	A	T	16: 18,442,961 (GRCm39)	I206K	possibly damaging	Het
Sh2d2a	C	A	3: 87,756,655 (GRCm39)	L167I	probably damaging	Het
Slco4a1	A	T	2: 180,114,271 (GRCm39)	S518C	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Tex15	T	A	8: 34,064,319 (GRCm39)	Y1250N	possibly damaging	Het
Tln1	G	T	4: 43,536,119 (GRCm39)	T2022K	probably damaging	Het
Trpc4	T	A	3: 54,173,741 (GRCm39)	F378L	probably benign	Het
Ush2a	A	T	1: 188,516,866 (GRCm39)	Q3192L	probably null	Het
Usp40	A	T	1: 87,885,035 (GRCm39)	W938R	possibly damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	probably benign	Het
Zmiz2	T	A	11: 6,346,277 (GRCm39)	S71T	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
R0544:Slc5a2	UTSW	7	127,869,171 (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
R9212:Slc5a2	UTSW	7	127,867,939 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTCTGAATCAAACGCAACTCTG -3'
(R):5'- CACTTCATGGAAAGCTGTGCAG -3'

Sequencing Primer
(F):5'- AACTCTGCCTCCCGGTG -3'
(R):5'- GCAGGCAGGGTTGTCAG -3'

Posted On

2022-02-07